Incidental Mutation 'R5811:Pih1d2'
| ID |
447520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pih1d2
|
| Ensembl Gene |
ENSMUSG00000000167 |
| Gene Name |
PIH1 domain containing 2 |
| Synonyms |
2700059L22Rik |
| MMRRC Submission |
043213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5811 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50528621-50536300 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50532374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 144
(L144P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000171]
[ENSMUST00000125606]
[ENSMUST00000131351]
[ENSMUST00000132187]
[ENSMUST00000141366]
[ENSMUST00000145139]
[ENSMUST00000151197]
[ENSMUST00000171462]
[ENSMUST00000147671]
[ENSMUST00000155435]
|
| AlphaFold |
Q8CHR9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000171
AA Change: L144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: L144P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
314 |
4.1e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125606
|
| SMART Domains |
Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
140 |
2.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131351
|
| SMART Domains |
Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132187
|
| SMART Domains |
Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
92 |
1.7e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141366
AA Change: L160P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: L160P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
35 |
198 |
2.6e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145139
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151197
AA Change: L144P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
AA Change: L144P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PIH1
|
19 |
235 |
1.7e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171462
|
| SMART Domains |
Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NKAP
|
86 |
163 |
5.2e-26 |
PFAM |
|
low complexity region
|
198 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147671
|
| SMART Domains |
Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155435
|
| SMART Domains |
Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
142 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
214 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btnl1 |
A |
T |
17: 34,604,503 (GRCm39) |
K428M |
probably damaging |
Het |
| Chid1 |
G |
A |
7: 141,110,166 (GRCm39) |
T53M |
probably damaging |
Het |
| Clnk |
A |
G |
5: 38,870,490 (GRCm39) |
V356A |
probably damaging |
Het |
| Cryba4 |
C |
T |
5: 112,398,937 (GRCm39) |
V36I |
probably benign |
Het |
| Dct |
A |
G |
14: 118,250,600 (GRCm39) |
V466A |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,887,929 (GRCm39) |
D146G |
possibly damaging |
Het |
| Epas1 |
A |
G |
17: 87,131,203 (GRCm39) |
N328D |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,945,936 (GRCm39) |
R1610W |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,657 (GRCm39) |
V415A |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,896,911 (GRCm39) |
L576P |
probably damaging |
Het |
| Gjd3 |
A |
T |
11: 98,873,226 (GRCm39) |
V206E |
possibly damaging |
Het |
| Gpr135 |
A |
T |
12: 72,116,641 (GRCm39) |
D375E |
possibly damaging |
Het |
| Gsdme |
T |
A |
6: 50,222,925 (GRCm39) |
Q130L |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,777,702 (GRCm39) |
M274V |
probably null |
Het |
| Kcnn4 |
T |
C |
7: 24,077,030 (GRCm39) |
V193A |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,505 (GRCm39) |
V31A |
probably damaging |
Het |
| Lamc2 |
C |
T |
1: 153,041,999 (GRCm39) |
R45Q |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,772,860 (GRCm39) |
I203F |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,182,564 (GRCm39) |
D91G |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,263,465 (GRCm39) |
|
probably benign |
Het |
| Mecom |
C |
T |
3: 30,015,149 (GRCm39) |
S602N |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,352,721 (GRCm39) |
V736A |
possibly damaging |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Or2h2c |
C |
A |
17: 37,422,649 (GRCm39) |
C75F |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,269,790 (GRCm39) |
M173K |
possibly damaging |
Het |
| Plch2 |
C |
T |
4: 155,077,024 (GRCm39) |
E577K |
possibly damaging |
Het |
| Samd4b |
T |
C |
7: 28,107,445 (GRCm39) |
S275G |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,822,495 (GRCm39) |
V668A |
probably benign |
Het |
| Sema3c |
T |
A |
5: 17,880,188 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
C |
T |
2: 167,313,307 (GRCm39) |
R390* |
probably null |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,565 (GRCm39) |
N305I |
probably benign |
Het |
| Wdr33 |
T |
C |
18: 32,035,673 (GRCm39) |
F1164L |
unknown |
Het |
| Zfp873 |
T |
A |
10: 81,896,567 (GRCm39) |
C470S |
probably damaging |
Het |
|
| Other mutations in Pih1d2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Pih1d2
|
APN |
9 |
50,533,177 (GRCm39) |
missense |
probably benign |
0.09 |
|
FR4449:Pih1d2
|
UTSW |
9 |
50,532,927 (GRCm39) |
frame shift |
probably null |
|
|
R0390:Pih1d2
|
UTSW |
9 |
50,532,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pih1d2
|
UTSW |
9 |
50,532,403 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1570:Pih1d2
|
UTSW |
9 |
50,532,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1874:Pih1d2
|
UTSW |
9 |
50,532,245 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2207:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4667:Pih1d2
|
UTSW |
9 |
50,532,252 (GRCm39) |
nonsense |
probably null |
|
|
R5806:Pih1d2
|
UTSW |
9 |
50,529,750 (GRCm39) |
unclassified |
probably benign |
|
|
R5949:Pih1d2
|
UTSW |
9 |
50,536,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Pih1d2
|
UTSW |
9 |
50,532,452 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6416:Pih1d2
|
UTSW |
9 |
50,529,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6711:Pih1d2
|
UTSW |
9 |
50,529,310 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7052:Pih1d2
|
UTSW |
9 |
50,533,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Pih1d2
|
UTSW |
9 |
50,536,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7661:Pih1d2
|
UTSW |
9 |
50,529,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7770:Pih1d2
|
UTSW |
9 |
50,533,101 (GRCm39) |
missense |
not run |
|
|
R8295:Pih1d2
|
UTSW |
9 |
50,532,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Pih1d2
|
UTSW |
9 |
50,536,232 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9147:Pih1d2
|
UTSW |
9 |
50,532,321 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9401:Pih1d2
|
UTSW |
9 |
50,529,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGTCGCTTGCAACTTTG -3'
(R):5'- CTATGCATGGGCTACAAACCC -3'
Sequencing Primer
(F):5'- AACTTTGCTAATATGGGTTGGTATAC -3'
(R):5'- TGGGCTACAAACCCAGAATCTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation