Incidental Mutation 'R0304:Pde4dip'
| ID |
37728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4dip
|
| Ensembl Gene |
ENSMUSG00000038170 |
| Gene Name |
phosphodiesterase 4D interacting protein (myomegalin) |
| Synonyms |
Usmg4, D3Bwg1078e, D130016K21Rik, 9430063L05Rik, 4732458A06Rik |
| MMRRC Submission |
038515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0304 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97597144-97796023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97751028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 62
(H62L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090750]
[ENSMUST00000107038]
[ENSMUST00000168438]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090750
AA Change: H62L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000088254
Gene: ENSMUSG00000038170
AA Change: H62L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
|
Pfam:Cnn_1N
|
124 |
196 |
3.2e-26 |
PFAM |
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
325 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
397 |
438 |
4.03e-5 |
PROSPERO |
|
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
617 |
667 |
6.59e-5 |
PROSPERO |
|
internal_repeat_1
|
620 |
661 |
4.03e-5 |
PROSPERO |
|
coiled coil region
|
866 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1067 |
1082 |
N/A |
INTRINSIC |
|
coiled coil region
|
1118 |
1163 |
N/A |
INTRINSIC |
|
coiled coil region
|
1336 |
1363 |
N/A |
INTRINSIC |
|
low complexity region
|
1403 |
1420 |
N/A |
INTRINSIC |
|
coiled coil region
|
1470 |
1508 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1597 |
1644 |
6.59e-5 |
PROSPERO |
|
DUF1220
|
1680 |
1747 |
1.17e-17 |
SMART |
|
low complexity region
|
1758 |
1780 |
N/A |
INTRINSIC |
|
low complexity region
|
1836 |
1851 |
N/A |
INTRINSIC |
|
low complexity region
|
1860 |
1874 |
N/A |
INTRINSIC |
|
low complexity region
|
1940 |
1951 |
N/A |
INTRINSIC |
|
coiled coil region
|
1962 |
2138 |
N/A |
INTRINSIC |
|
coiled coil region
|
2162 |
2197 |
N/A |
INTRINSIC |
|
coiled coil region
|
2387 |
2431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107038
AA Change: H8L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102653
Gene: ENSMUSG00000038170
AA Change: H8L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Microtub_assoc
|
70 |
144 |
7.8e-32 |
PFAM |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
271 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
343 |
384 |
5.54e-5 |
PROSPERO |
|
low complexity region
|
513 |
524 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
566 |
607 |
5.54e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163531
|
| SMART Domains |
Protein: ENSMUSP00000132409
Gene: ENSMUSG00000038170
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Microtub_assoc
|
70 |
117 |
7.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168438
AA Change: H62L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000131170
Gene: ENSMUSG00000038170
AA Change: H62L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
|
Pfam:Microtub_assoc
|
124 |
198 |
1.4e-31 |
PFAM |
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
coiled coil region
|
282 |
325 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
397 |
438 |
3.56e-5 |
PROSPERO |
|
low complexity region
|
567 |
578 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
617 |
667 |
5.83e-5 |
PROSPERO |
|
internal_repeat_1
|
620 |
661 |
3.56e-5 |
PROSPERO |
|
coiled coil region
|
866 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1067 |
1082 |
N/A |
INTRINSIC |
|
coiled coil region
|
1118 |
1163 |
N/A |
INTRINSIC |
|
coiled coil region
|
1336 |
1363 |
N/A |
INTRINSIC |
|
low complexity region
|
1403 |
1420 |
N/A |
INTRINSIC |
|
coiled coil region
|
1470 |
1508 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1597 |
1644 |
5.83e-5 |
PROSPERO |
|
DUF1220
|
1680 |
1747 |
1.17e-17 |
SMART |
|
low complexity region
|
1758 |
1769 |
N/A |
INTRINSIC |
|
low complexity region
|
1785 |
1800 |
N/A |
INTRINSIC |
|
low complexity region
|
1809 |
1823 |
N/A |
INTRINSIC |
|
low complexity region
|
1889 |
1900 |
N/A |
INTRINSIC |
|
coiled coil region
|
1911 |
2087 |
N/A |
INTRINSIC |
|
coiled coil region
|
2111 |
2146 |
N/A |
INTRINSIC |
|
coiled coil region
|
2336 |
2380 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (95/97) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit partial (in utero or perinatal) lethality, hyperactivity, and increased vertical activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
C |
T |
4: 144,246,619 (GRCm39) |
T55I |
probably benign |
Het |
| Acod1 |
T |
A |
14: 103,292,418 (GRCm39) |
I314N |
probably damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,967 (GRCm39) |
V430E |
probably damaging |
Het |
| Adam19 |
A |
C |
11: 46,018,219 (GRCm39) |
D427A |
possibly damaging |
Het |
| Adarb2 |
C |
T |
13: 8,802,606 (GRCm39) |
|
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,147,450 (GRCm39) |
H93Q |
probably damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,981 (GRCm39) |
R82S |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,864,612 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
A |
9: 53,427,644 (GRCm39) |
I489F |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,323,324 (GRCm39) |
S243G |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,278 (GRCm39) |
V939A |
probably damaging |
Het |
| Cel |
A |
C |
2: 28,447,783 (GRCm39) |
L377R |
probably benign |
Het |
| Clock |
A |
G |
5: 76,374,832 (GRCm39) |
V779A |
unknown |
Het |
| Cluap1 |
G |
A |
16: 3,747,782 (GRCm39) |
|
probably benign |
Het |
| Ctif |
A |
T |
18: 75,654,889 (GRCm39) |
H212Q |
probably benign |
Het |
| Cyp4a29 |
T |
A |
4: 115,110,129 (GRCm39) |
|
probably benign |
Het |
| Cytip |
T |
C |
2: 58,038,258 (GRCm39) |
N101S |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,048,798 (GRCm39) |
M434T |
probably benign |
Het |
| Ddx47 |
A |
G |
6: 134,994,183 (GRCm39) |
I154V |
possibly damaging |
Het |
| Dnah6 |
C |
T |
6: 73,136,098 (GRCm39) |
E1014K |
probably damaging |
Het |
| Dnajc27 |
T |
G |
12: 4,156,793 (GRCm39) |
|
probably benign |
Het |
| Drc7 |
A |
T |
8: 95,785,756 (GRCm39) |
D204V |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,114,298 (GRCm39) |
Y319H |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,727,441 (GRCm39) |
Q1227R |
probably benign |
Het |
| Enpp2 |
A |
T |
15: 54,741,202 (GRCm39) |
D365E |
probably benign |
Het |
| Ercc2 |
T |
C |
7: 19,120,633 (GRCm39) |
I199T |
possibly damaging |
Het |
| Exd2 |
G |
A |
12: 80,538,014 (GRCm39) |
|
probably benign |
Het |
| F2 |
A |
T |
2: 91,463,578 (GRCm39) |
I128N |
probably damaging |
Het |
| Fam219b |
T |
C |
9: 57,446,159 (GRCm39) |
L123P |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,710,762 (GRCm39) |
V299A |
possibly damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,791,559 (GRCm39) |
V689A |
possibly damaging |
Het |
| Fbxw13 |
C |
T |
9: 109,023,789 (GRCm39) |
R85Q |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,462,411 (GRCm39) |
Y822C |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,207,241 (GRCm39) |
T176A |
probably benign |
Het |
| Gm20530 |
T |
G |
17: 36,405,118 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
A |
T |
12: 81,425,708 (GRCm39) |
I150N |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,911,376 (GRCm39) |
S618N |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,424,110 (GRCm39) |
K454E |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,019,353 (GRCm39) |
I978F |
possibly damaging |
Het |
| Icosl |
A |
G |
10: 77,911,156 (GRCm39) |
Y299C |
probably benign |
Het |
| Idi1 |
T |
C |
13: 8,940,393 (GRCm39) |
Y192H |
probably damaging |
Het |
| Iqub |
T |
G |
6: 24,454,290 (GRCm39) |
Q531P |
probably damaging |
Het |
| Itih4 |
T |
A |
14: 30,612,051 (GRCm39) |
|
probably null |
Het |
| Izumo4 |
A |
T |
10: 80,538,770 (GRCm39) |
H71L |
probably damaging |
Het |
| Jcad |
A |
T |
18: 4,673,325 (GRCm39) |
E362D |
possibly damaging |
Het |
| Kif21a |
G |
T |
15: 90,860,724 (GRCm39) |
|
probably null |
Het |
| Kynu |
A |
T |
2: 43,569,893 (GRCm39) |
I392F |
probably damaging |
Het |
| Luc7l2 |
A |
G |
6: 38,569,711 (GRCm39) |
E223G |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,339,552 (GRCm39) |
L273R |
probably damaging |
Het |
| Max |
A |
G |
12: 76,985,361 (GRCm39) |
L119P |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,436,892 (GRCm39) |
N484S |
probably benign |
Het |
| Mrgprg |
A |
G |
7: 143,318,792 (GRCm39) |
Y107H |
probably damaging |
Het |
| Mrps31 |
A |
T |
8: 22,911,354 (GRCm39) |
I199F |
probably benign |
Het |
| Mtr |
C |
G |
13: 12,237,040 (GRCm39) |
|
probably null |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,222 (GRCm39) |
D130G |
probably damaging |
Het |
| Nptx2 |
A |
G |
5: 144,490,460 (GRCm39) |
|
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,595 (GRCm39) |
Q654R |
possibly damaging |
Het |
| Ocm |
A |
G |
5: 143,961,352 (GRCm39) |
F30L |
probably damaging |
Het |
| Oosp1 |
T |
C |
19: 11,668,333 (GRCm39) |
M17V |
probably benign |
Het |
| Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4c111 |
G |
A |
2: 88,843,632 (GRCm39) |
R259W |
probably damaging |
Het |
| Or4c118 |
A |
C |
2: 88,975,108 (GRCm39) |
Y86* |
probably null |
Het |
| Or52ad1 |
G |
T |
7: 102,995,918 (GRCm39) |
D72E |
probably damaging |
Het |
| Pax1 |
A |
T |
2: 147,208,067 (GRCm39) |
Y225F |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,804,920 (GRCm39) |
Q3190K |
probably damaging |
Het |
| Pkn1 |
A |
C |
8: 84,410,236 (GRCm39) |
|
probably benign |
Het |
| Plin5 |
T |
C |
17: 56,422,597 (GRCm39) |
D113G |
probably damaging |
Het |
| Ppfia1 |
A |
G |
7: 144,036,082 (GRCm39) |
V1141A |
probably damaging |
Het |
| Ppp4r1 |
T |
A |
17: 66,123,001 (GRCm39) |
D334E |
probably benign |
Het |
| Ptov1 |
A |
T |
7: 44,512,873 (GRCm39) |
|
probably null |
Het |
| Rab22a |
G |
A |
2: 173,503,252 (GRCm39) |
V22M |
probably damaging |
Het |
| Rictor |
T |
A |
15: 6,815,852 (GRCm39) |
|
probably null |
Het |
| Sart1 |
G |
T |
19: 5,430,559 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,928 (GRCm39) |
A45V |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,069,459 (GRCm39) |
T224A |
possibly damaging |
Het |
| Siglecf |
G |
T |
7: 43,001,825 (GRCm39) |
G212C |
probably damaging |
Het |
| Slc38a4 |
A |
T |
15: 96,906,335 (GRCm39) |
M378K |
probably damaging |
Het |
| Spata22 |
T |
A |
11: 73,231,275 (GRCm39) |
C176* |
probably null |
Het |
| Tmc3 |
G |
A |
7: 83,245,347 (GRCm39) |
E131K |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,594 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,537,180 (GRCm39) |
F672L |
probably benign |
Het |
| Vmn1r121 |
A |
G |
7: 20,832,332 (GRCm39) |
V36A |
possibly damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,611 (GRCm39) |
M257L |
probably benign |
Het |
| Vmn1r58 |
C |
T |
7: 5,413,495 (GRCm39) |
C245Y |
probably damaging |
Het |
| Vmn1r86 |
C |
A |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,942,299 (GRCm39) |
Y1051C |
probably benign |
Het |
| Xpnpep3 |
A |
G |
15: 81,314,915 (GRCm39) |
D205G |
probably damaging |
Het |
| Zdhhc14 |
T |
C |
17: 5,775,611 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
A |
T |
7: 27,578,637 (GRCm39) |
D569V |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,608,470 (GRCm39) |
E1137K |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,993,408 (GRCm39) |
Y589C |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,771,450 (GRCm39) |
D1644V |
probably benign |
Het |
|
| Other mutations in Pde4dip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Pde4dip
|
APN |
3 |
97,674,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00543:Pde4dip
|
APN |
3 |
97,664,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00979:Pde4dip
|
APN |
3 |
97,655,074 (GRCm39) |
splice site |
probably benign |
|
|
IGL01483:Pde4dip
|
APN |
3 |
97,661,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02122:Pde4dip
|
APN |
3 |
97,674,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Pde4dip
|
APN |
3 |
97,674,097 (GRCm39) |
missense |
probably benign |
|
|
IGL02814:Pde4dip
|
APN |
3 |
97,674,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Pde4dip
|
APN |
3 |
97,674,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D3080:Pde4dip
|
UTSW |
3 |
97,674,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Pde4dip
|
UTSW |
3 |
97,660,442 (GRCm39) |
nonsense |
probably null |
|
|
R0096:Pde4dip
|
UTSW |
3 |
97,674,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0277:Pde4dip
|
UTSW |
3 |
97,751,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0616:Pde4dip
|
UTSW |
3 |
97,654,849 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0676:Pde4dip
|
UTSW |
3 |
97,624,413 (GRCm39) |
splice site |
probably benign |
|
|
R1166:Pde4dip
|
UTSW |
3 |
97,620,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1376:Pde4dip
|
UTSW |
3 |
97,650,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1376:Pde4dip
|
UTSW |
3 |
97,650,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1452:Pde4dip
|
UTSW |
3 |
97,631,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Pde4dip
|
UTSW |
3 |
97,627,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1700:Pde4dip
|
UTSW |
3 |
97,610,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1704:Pde4dip
|
UTSW |
3 |
97,661,576 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1769:Pde4dip
|
UTSW |
3 |
97,603,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1934:Pde4dip
|
UTSW |
3 |
97,600,007 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1980:Pde4dip
|
UTSW |
3 |
97,664,312 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2088:Pde4dip
|
UTSW |
3 |
97,661,749 (GRCm39) |
missense |
probably null |
1.00 |
|
R2143:Pde4dip
|
UTSW |
3 |
97,795,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2149:Pde4dip
|
UTSW |
3 |
97,700,152 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2156:Pde4dip
|
UTSW |
3 |
97,631,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2158:Pde4dip
|
UTSW |
3 |
97,664,937 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2240:Pde4dip
|
UTSW |
3 |
97,631,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2249:Pde4dip
|
UTSW |
3 |
97,700,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Pde4dip
|
UTSW |
3 |
97,625,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Pde4dip
|
UTSW |
3 |
97,608,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2921:Pde4dip
|
UTSW |
3 |
97,626,885 (GRCm39) |
missense |
probably benign |
|
|
R3407:Pde4dip
|
UTSW |
3 |
97,661,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Pde4dip
|
UTSW |
3 |
97,631,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3787:Pde4dip
|
UTSW |
3 |
97,622,868 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3883:Pde4dip
|
UTSW |
3 |
97,620,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4437:Pde4dip
|
UTSW |
3 |
97,673,885 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4528:Pde4dip
|
UTSW |
3 |
97,624,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Pde4dip
|
UTSW |
3 |
97,661,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Pde4dip
|
UTSW |
3 |
97,603,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4653:Pde4dip
|
UTSW |
3 |
97,674,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4678:Pde4dip
|
UTSW |
3 |
97,602,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Pde4dip
|
UTSW |
3 |
97,602,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Pde4dip
|
UTSW |
3 |
97,750,993 (GRCm39) |
nonsense |
probably null |
|
|
R4770:Pde4dip
|
UTSW |
3 |
97,674,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Pde4dip
|
UTSW |
3 |
97,700,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Pde4dip
|
UTSW |
3 |
97,700,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4899:Pde4dip
|
UTSW |
3 |
97,616,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Pde4dip
|
UTSW |
3 |
97,622,644 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4943:Pde4dip
|
UTSW |
3 |
97,662,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5131:Pde4dip
|
UTSW |
3 |
97,616,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5408:Pde4dip
|
UTSW |
3 |
97,704,052 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5583:Pde4dip
|
UTSW |
3 |
97,654,892 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5677:Pde4dip
|
UTSW |
3 |
97,748,964 (GRCm39) |
nonsense |
probably null |
|
|
R5689:Pde4dip
|
UTSW |
3 |
97,599,683 (GRCm39) |
nonsense |
probably null |
|
|
R5696:Pde4dip
|
UTSW |
3 |
97,616,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Pde4dip
|
UTSW |
3 |
97,631,504 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6279:Pde4dip
|
UTSW |
3 |
97,606,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Pde4dip
|
UTSW |
3 |
97,602,227 (GRCm39) |
missense |
probably benign |
|
|
R6440:Pde4dip
|
UTSW |
3 |
97,674,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6464:Pde4dip
|
UTSW |
3 |
97,617,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Pde4dip
|
UTSW |
3 |
97,662,907 (GRCm39) |
nonsense |
probably null |
|
|
R6706:Pde4dip
|
UTSW |
3 |
97,648,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Pde4dip
|
UTSW |
3 |
97,625,555 (GRCm39) |
nonsense |
probably null |
|
|
R6798:Pde4dip
|
UTSW |
3 |
97,795,850 (GRCm39) |
missense |
probably benign |
|
|
R6804:Pde4dip
|
UTSW |
3 |
97,700,564 (GRCm39) |
nonsense |
probably null |
|
|
R6862:Pde4dip
|
UTSW |
3 |
97,674,340 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6957:Pde4dip
|
UTSW |
3 |
97,731,649 (GRCm39) |
splice site |
probably null |
|
|
R6983:Pde4dip
|
UTSW |
3 |
97,625,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Pde4dip
|
UTSW |
3 |
97,622,738 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7025:Pde4dip
|
UTSW |
3 |
97,631,499 (GRCm39) |
nonsense |
probably null |
|
|
R7136:Pde4dip
|
UTSW |
3 |
97,601,379 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7178:Pde4dip
|
UTSW |
3 |
97,622,946 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7269:Pde4dip
|
UTSW |
3 |
97,674,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7283:Pde4dip
|
UTSW |
3 |
97,666,198 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7354:Pde4dip
|
UTSW |
3 |
97,626,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7357:Pde4dip
|
UTSW |
3 |
97,622,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7360:Pde4dip
|
UTSW |
3 |
97,625,632 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7371:Pde4dip
|
UTSW |
3 |
97,664,587 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7432:Pde4dip
|
UTSW |
3 |
97,602,408 (GRCm39) |
missense |
probably benign |
|
|
R7536:Pde4dip
|
UTSW |
3 |
97,664,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Pde4dip
|
UTSW |
3 |
97,673,971 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7609:Pde4dip
|
UTSW |
3 |
97,622,881 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7650:Pde4dip
|
UTSW |
3 |
97,606,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7800:Pde4dip
|
UTSW |
3 |
97,622,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Pde4dip
|
UTSW |
3 |
97,622,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Pde4dip
|
UTSW |
3 |
97,622,539 (GRCm39) |
nonsense |
probably null |
|
|
R8120:Pde4dip
|
UTSW |
3 |
97,614,254 (GRCm39) |
missense |
probably null |
0.94 |
|
R8139:Pde4dip
|
UTSW |
3 |
97,604,309 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8144:Pde4dip
|
UTSW |
3 |
97,622,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Pde4dip
|
UTSW |
3 |
97,674,848 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8294:Pde4dip
|
UTSW |
3 |
97,674,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Pde4dip
|
UTSW |
3 |
97,606,428 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8911:Pde4dip
|
UTSW |
3 |
97,650,917 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8912:Pde4dip
|
UTSW |
3 |
97,617,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Pde4dip
|
UTSW |
3 |
97,700,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Pde4dip
|
UTSW |
3 |
97,673,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9031:Pde4dip
|
UTSW |
3 |
97,599,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Pde4dip
|
UTSW |
3 |
97,601,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9085:Pde4dip
|
UTSW |
3 |
97,601,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Pde4dip
|
UTSW |
3 |
97,749,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Pde4dip
|
UTSW |
3 |
97,659,123 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9182:Pde4dip
|
UTSW |
3 |
97,602,314 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9185:Pde4dip
|
UTSW |
3 |
97,666,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9286:Pde4dip
|
UTSW |
3 |
97,607,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Pde4dip
|
UTSW |
3 |
97,625,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9415:Pde4dip
|
UTSW |
3 |
97,660,468 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9500:Pde4dip
|
UTSW |
3 |
97,795,896 (GRCm39) |
missense |
unknown |
|
|
R9595:Pde4dip
|
UTSW |
3 |
97,602,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9689:Pde4dip
|
UTSW |
3 |
97,649,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9720:Pde4dip
|
UTSW |
3 |
97,603,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCCATTATGGACTGGAAGAGCC -3'
(R):5'- AGCATCTGGAACGCTCTATGTGAAC -3'
Sequencing Primer
(F):5'- CTCAAATAAAGGGAATGATAATTGGC -3'
(R):5'- AAAGACTATGGCTGTTGCCTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation