Incidental Mutation 'R6151:Diaph1'
| ID |
489310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Diaph1
|
| Ensembl Gene |
ENSMUSG00000024456 |
| Gene Name |
diaphanous related formin 1 |
| Synonyms |
p140mDia, Dia1, mDia1, D18Wsu154e, Diap1, Drf1 |
| MMRRC Submission |
044298-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6151 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37986406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 1158
(E1158A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
| AlphaFold |
O08808 |
| PDB Structure |
Crystal structure of the core FH2 domain of mouse mDia1 [X-RAY DIFFRACTION]
Crystal structure of mDIA1 GBD-FH3 in complex with RhoC-GMPPNP [X-RAY DIFFRACTION]
Crystal structure of the N-terminal mDia1 Armadillo Repeat Region and Dimerisation Domain in complex with the mDia1 autoregulatory domain (DAD) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE DIMERIC REGULATORY DOMAIN OF MOUSE DIAPHANEOUS-RELATED FORMIN (DRF), MDIA1 [X-RAY DIFFRACTION]
Crystal structure of the autoinhibitory switch in Formin mDia1; the DID/DAD complex [X-RAY DIFFRACTION]
Mouse Profilin IIa in complex with a double repeat from the FH1 domain of mDia1 [X-RAY DIFFRACTION]
Crystal structure of MDIA1-TSH GBD-FH3 in complex with CDC42-GMPPNP [X-RAY DIFFRACTION]
Crystal structure of complex between amino and carboxy terminal fragments of mDia1 [X-RAY DIFFRACTION]
Autoinhibited Formin mDia1 Structure [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025337
AA Change: E1167A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: E1167A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Drf_GBD
|
84 |
268 |
1.07e-57 |
SMART |
|
Drf_FH3
|
274 |
466 |
2.06e-68 |
SMART |
|
coiled coil region
|
471 |
571 |
N/A |
INTRINSIC |
|
Pfam:Drf_FH1
|
609 |
756 |
6.1e-43 |
PFAM |
|
FH2
|
761 |
1206 |
2.46e-182 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080033
AA Change: E1158A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: E1158A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Drf_GBD
|
75 |
259 |
1.07e-57 |
SMART |
|
Drf_FH3
|
265 |
457 |
2.06e-68 |
SMART |
|
coiled coil region
|
462 |
562 |
N/A |
INTRINSIC |
|
Pfam:Drf_FH1
|
589 |
747 |
7.9e-52 |
PFAM |
|
FH2
|
752 |
1197 |
3.73e-182 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115629
AA Change: E1123A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: E1123A
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
40 |
224 |
1.07e-57 |
SMART |
|
Drf_FH3
|
230 |
422 |
2.06e-68 |
SMART |
|
coiled coil region
|
427 |
527 |
N/A |
INTRINSIC |
|
Pfam:Drf_FH1
|
554 |
712 |
7.6e-52 |
PFAM |
|
FH2
|
717 |
1162 |
3.73e-182 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115631
AA Change: E1123A
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: E1123A
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
40 |
224 |
1.07e-57 |
SMART |
|
Drf_FH3
|
230 |
422 |
2.06e-68 |
SMART |
|
coiled coil region
|
427 |
527 |
N/A |
INTRINSIC |
|
Pfam:Drf_FH1
|
554 |
712 |
1.1e-51 |
PFAM |
|
FH2
|
717 |
1162 |
2.46e-182 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115634
AA Change: E1158A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: E1158A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
Drf_GBD
|
75 |
259 |
1.07e-57 |
SMART |
|
Drf_FH3
|
265 |
457 |
2.06e-68 |
SMART |
|
coiled coil region
|
462 |
562 |
N/A |
INTRINSIC |
|
Pfam:Drf_FH1
|
589 |
747 |
9.4e-52 |
PFAM |
|
FH2
|
752 |
1197 |
2.46e-182 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183927
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the formin family of proteins that play important roles in cytoskeletal rearragnement by nucleation of actin filaments. Mice lacking the encoded protein develop age-dependent myeloproliferative defects resembling human myeloproliferative syndrome and myelodysplastic syndromes. Trafficking of T lymphocytes to secondary lymphoid organs and egression of thymocytes from the thymus are impaired in these animals. Lack of the encoded protein in T lymphocytes and thymocytes also reduces chemotaxis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal hematopoiesis, bone marrow cell morphology, spleen morphology, skin physiology, skull morphology, and postnatal growth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,099,216 (GRCm39) |
|
probably null |
Het |
| 4930550C14Rik |
G |
T |
9: 53,325,683 (GRCm39) |
R73S |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,085,261 (GRCm39) |
V517A |
probably benign |
Het |
| Adck5 |
A |
T |
15: 76,478,887 (GRCm39) |
K370N |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,072,575 (GRCm39) |
D981A |
probably damaging |
Het |
| Apbb1 |
G |
A |
7: 105,223,459 (GRCm39) |
R51* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,391,238 (GRCm39) |
M1252V |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,617,367 (GRCm39) |
T354A |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,412,287 (GRCm39) |
Q1636K |
unknown |
Het |
| Asmt |
C |
T |
X: 169,110,202 (GRCm39) |
A237V |
possibly damaging |
Het |
| Brat1 |
T |
A |
5: 140,691,716 (GRCm39) |
C43S |
probably benign |
Het |
| Cd36 |
T |
C |
5: 18,000,593 (GRCm39) |
Y370C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,030 (GRCm39) |
L145F |
probably benign |
Het |
| Col24a1 |
C |
T |
3: 145,019,815 (GRCm39) |
T62I |
probably damaging |
Het |
| Col6a3 |
G |
T |
1: 90,741,475 (GRCm39) |
N652K |
possibly damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,180,756 (GRCm39) |
L140P |
probably damaging |
Het |
| Dhrs13 |
G |
A |
11: 77,927,808 (GRCm39) |
C218Y |
probably damaging |
Het |
| Emp2 |
A |
C |
16: 10,110,145 (GRCm39) |
F20C |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,126,067 (GRCm39) |
I22V |
possibly damaging |
Het |
| Epha2 |
A |
G |
4: 141,045,791 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
G |
T |
1: 185,139,951 (GRCm39) |
|
probably null |
Het |
| Etl4 |
T |
A |
2: 20,718,171 (GRCm39) |
I304N |
probably damaging |
Het |
| Exoc3l2 |
C |
A |
7: 19,225,670 (GRCm39) |
S89* |
probably null |
Het |
| F5 |
G |
A |
1: 164,017,756 (GRCm39) |
C611Y |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,009,204 (GRCm39) |
I325F |
probably damaging |
Het |
| Fam133b |
A |
T |
5: 3,609,133 (GRCm39) |
S116C |
probably null |
Het |
| Fam13b |
A |
T |
18: 34,627,330 (GRCm39) |
D190E |
probably damaging |
Het |
| Fam169a |
T |
G |
13: 97,230,138 (GRCm39) |
Y58D |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,160,603 (GRCm39) |
R383H |
possibly damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,364,579 (GRCm39) |
K52R |
possibly damaging |
Het |
| Foxj3 |
C |
A |
4: 119,480,468 (GRCm39) |
Q469K |
unknown |
Het |
| Frs3 |
A |
T |
17: 48,000,013 (GRCm39) |
|
probably benign |
Het |
| Gdpd3 |
A |
G |
7: 126,374,674 (GRCm39) |
S290G |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,269,735 (GRCm39) |
L610Q |
probably damaging |
Het |
| Gprc5c |
T |
A |
11: 114,754,851 (GRCm39) |
I176N |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,561,556 (GRCm39) |
F765L |
probably damaging |
Het |
| Hhat |
A |
T |
1: 192,442,065 (GRCm39) |
L2Q |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,637,592 (GRCm39) |
S214P |
probably damaging |
Het |
| Ighv1-62-3 |
C |
A |
12: 115,424,909 (GRCm39) |
V21F |
probably damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,096,527 (GRCm39) |
K50* |
probably null |
Het |
| Kidins220 |
T |
C |
12: 25,106,908 (GRCm39) |
S1454P |
possibly damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Klhl23 |
T |
G |
2: 69,655,198 (GRCm39) |
L356R |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,501,129 (GRCm39) |
D806V |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,228,315 (GRCm39) |
E139G |
probably benign |
Het |
| Lefty1 |
T |
C |
1: 180,762,681 (GRCm39) |
F3L |
unknown |
Het |
| Madd |
A |
C |
2: 90,995,802 (GRCm39) |
Y853* |
probably null |
Het |
| Map1a |
T |
A |
2: 121,120,304 (GRCm39) |
D63E |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,684,735 (GRCm39) |
V815E |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,532,477 (GRCm39) |
Y569H |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,504,859 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
C |
A |
11: 101,899,392 (GRCm39) |
R376S |
probably benign |
Het |
| Ncoa4-ps |
T |
G |
12: 119,224,841 (GRCm39) |
|
noncoding transcript |
Het |
| Nup160 |
T |
A |
2: 90,520,449 (GRCm39) |
Y293* |
probably null |
Het |
| Nup58 |
A |
T |
14: 60,482,065 (GRCm39) |
F100I |
possibly damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,237,491 (GRCm39) |
L255V |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,655,106 (GRCm39) |
I306V |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,521 (GRCm39) |
Y252* |
probably null |
Het |
| Or2l5 |
A |
T |
16: 19,334,281 (GRCm39) |
L35Q |
probably damaging |
Het |
| Or4d11 |
T |
C |
19: 12,014,100 (GRCm39) |
E2G |
probably benign |
Het |
| Padi3 |
A |
T |
4: 140,523,705 (GRCm39) |
D248E |
probably damaging |
Het |
| Paxip1 |
G |
T |
5: 27,966,616 (GRCm39) |
H637N |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,458,748 (GRCm39) |
M296K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,794,580 (GRCm39) |
H2089R |
probably benign |
Het |
| Plaat5 |
C |
T |
19: 7,596,656 (GRCm39) |
P148S |
probably damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Rhebl1 |
T |
C |
15: 98,776,160 (GRCm39) |
I165V |
probably benign |
Het |
| Rock1 |
A |
T |
18: 10,106,426 (GRCm39) |
V481E |
possibly damaging |
Het |
| Rtca |
T |
A |
3: 116,301,476 (GRCm39) |
T24S |
probably benign |
Het |
| Serpina3c |
T |
A |
12: 104,118,327 (GRCm39) |
I4F |
possibly damaging |
Het |
| Serpina3j |
C |
A |
12: 104,283,649 (GRCm39) |
A249E |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,825,910 (GRCm39) |
N116S |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,339,770 (GRCm39) |
V58I |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,908,147 (GRCm39) |
Y132F |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 75,047,033 (GRCm39) |
I1242S |
probably damaging |
Het |
| Tap2 |
G |
T |
17: 34,431,021 (GRCm39) |
V374L |
probably benign |
Het |
| Tbc1d10b |
G |
A |
7: 126,807,168 (GRCm39) |
T123M |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,899,610 (GRCm39) |
V2516G |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,848,608 (GRCm39) |
R12Q |
probably damaging |
Het |
| Tmem130 |
T |
A |
5: 144,674,661 (GRCm39) |
M355L |
probably benign |
Het |
| Tns4 |
C |
T |
11: 98,966,376 (GRCm39) |
S433N |
probably benign |
Het |
| Traip |
G |
T |
9: 107,847,818 (GRCm39) |
|
probably null |
Het |
| Trmo |
G |
A |
4: 46,389,390 (GRCm39) |
R2C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,504 (GRCm39) |
I2134N |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,984 (GRCm39) |
D380G |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,895,698 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
T |
5: 65,574,924 (GRCm39) |
Y367* |
probably null |
Het |
| Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
| Vmn1r84 |
G |
T |
7: 12,095,841 (GRCm39) |
T284K |
possibly damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,360 (GRCm39) |
F93Y |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,450,878 (GRCm39) |
Y255N |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
| Vwa2 |
A |
G |
19: 56,891,897 (GRCm39) |
|
probably null |
Het |
| Vwf |
A |
G |
6: 125,634,028 (GRCm39) |
K169E |
unknown |
Het |
| Zc3h7b |
G |
C |
15: 81,662,911 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
T |
A |
13: 67,405,662 (GRCm39) |
H259L |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,819,910 (GRCm39) |
V1051A |
probably benign |
Het |
| Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
probably damaging |
Het |
|
| Other mutations in Diaph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Diaph1
|
APN |
18 |
38,026,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01432:Diaph1
|
APN |
18 |
38,030,557 (GRCm39) |
missense |
unknown |
|
|
IGL01646:Diaph1
|
APN |
18 |
38,026,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01676:Diaph1
|
APN |
18 |
37,989,241 (GRCm39) |
nonsense |
probably null |
|
|
IGL01731:Diaph1
|
APN |
18 |
37,986,762 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
IGL01921:Diaph1
|
APN |
18 |
37,989,261 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02200:Diaph1
|
APN |
18 |
38,023,735 (GRCm39) |
missense |
unknown |
|
|
IGL02258:Diaph1
|
APN |
18 |
37,986,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02325:Diaph1
|
APN |
18 |
37,986,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:Diaph1
|
APN |
18 |
37,987,626 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
albatross
|
UTSW |
18 |
37,986,732 (GRCm39) |
nonsense |
probably null |
|
|
cucamonga
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
damselfly
|
UTSW |
18 |
38,030,603 (GRCm39) |
nonsense |
probably null |
|
|
devastator
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
fishnets
|
UTSW |
18 |
38,028,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Guangzhou
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
saran
|
UTSW |
18 |
37,988,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
seethrough
|
UTSW |
18 |
38,022,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sheer
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0137:Diaph1
|
UTSW |
18 |
38,024,902 (GRCm39) |
missense |
unknown |
|
|
R0446:Diaph1
|
UTSW |
18 |
37,986,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0523:Diaph1
|
UTSW |
18 |
37,989,553 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1433:Diaph1
|
UTSW |
18 |
38,038,187 (GRCm39) |
missense |
unknown |
|
|
R1532:Diaph1
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1534:Diaph1
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1535:Diaph1
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1536:Diaph1
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1537:Diaph1
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1611:Diaph1
|
UTSW |
18 |
38,033,755 (GRCm39) |
missense |
unknown |
|
|
R1756:Diaph1
|
UTSW |
18 |
37,987,626 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1771:Diaph1
|
UTSW |
18 |
38,024,071 (GRCm39) |
missense |
unknown |
|
|
R1812:Diaph1
|
UTSW |
18 |
38,024,071 (GRCm39) |
missense |
unknown |
|
|
R2121:Diaph1
|
UTSW |
18 |
38,029,442 (GRCm39) |
missense |
unknown |
|
|
R3710:Diaph1
|
UTSW |
18 |
37,978,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Diaph1
|
UTSW |
18 |
38,033,691 (GRCm39) |
splice site |
probably benign |
|
|
R3892:Diaph1
|
UTSW |
18 |
38,033,691 (GRCm39) |
splice site |
probably benign |
|
|
R4077:Diaph1
|
UTSW |
18 |
37,986,636 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4079:Diaph1
|
UTSW |
18 |
37,986,636 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4771:Diaph1
|
UTSW |
18 |
37,986,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Diaph1
|
UTSW |
18 |
38,028,256 (GRCm39) |
missense |
unknown |
|
|
R5242:Diaph1
|
UTSW |
18 |
37,984,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5294:Diaph1
|
UTSW |
18 |
38,030,633 (GRCm39) |
missense |
unknown |
|
|
R5294:Diaph1
|
UTSW |
18 |
38,030,603 (GRCm39) |
nonsense |
probably null |
|
|
R5349:Diaph1
|
UTSW |
18 |
38,024,125 (GRCm39) |
missense |
unknown |
|
|
R5427:Diaph1
|
UTSW |
18 |
38,023,648 (GRCm39) |
missense |
unknown |
|
|
R5623:Diaph1
|
UTSW |
18 |
38,029,146 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5677:Diaph1
|
UTSW |
18 |
37,989,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Diaph1
|
UTSW |
18 |
38,036,829 (GRCm39) |
missense |
unknown |
|
|
R5767:Diaph1
|
UTSW |
18 |
37,986,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Diaph1
|
UTSW |
18 |
38,024,988 (GRCm39) |
missense |
unknown |
|
|
R6823:Diaph1
|
UTSW |
18 |
38,009,436 (GRCm39) |
splice site |
probably null |
|
|
R6876:Diaph1
|
UTSW |
18 |
38,029,426 (GRCm39) |
missense |
unknown |
|
|
R6925:Diaph1
|
UTSW |
18 |
37,986,732 (GRCm39) |
nonsense |
probably null |
|
|
R6983:Diaph1
|
UTSW |
18 |
38,022,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7073:Diaph1
|
UTSW |
18 |
38,022,867 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7248:Diaph1
|
UTSW |
18 |
38,022,829 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7400:Diaph1
|
UTSW |
18 |
37,987,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Diaph1
|
UTSW |
18 |
38,028,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7544:Diaph1
|
UTSW |
18 |
38,026,322 (GRCm39) |
splice site |
probably null |
|
|
R7703:Diaph1
|
UTSW |
18 |
38,023,862 (GRCm39) |
missense |
unknown |
|
|
R7834:Diaph1
|
UTSW |
18 |
37,986,762 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8073:Diaph1
|
UTSW |
18 |
38,024,850 (GRCm39) |
missense |
unknown |
|
|
R8378:Diaph1
|
UTSW |
18 |
38,025,006 (GRCm39) |
missense |
unknown |
|
|
R8847:Diaph1
|
UTSW |
18 |
37,987,590 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8947:Diaph1
|
UTSW |
18 |
37,986,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8990:Diaph1
|
UTSW |
18 |
37,988,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9059:Diaph1
|
UTSW |
18 |
38,022,798 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9189:Diaph1
|
UTSW |
18 |
38,024,162 (GRCm39) |
missense |
unknown |
|
|
R9297:Diaph1
|
UTSW |
18 |
38,022,828 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9438:Diaph1
|
UTSW |
18 |
38,026,443 (GRCm39) |
missense |
unknown |
|
|
R9439:Diaph1
|
UTSW |
18 |
38,029,412 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9538:Diaph1
|
UTSW |
18 |
37,986,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Diaph1
|
UTSW |
18 |
38,024,111 (GRCm39) |
missense |
unknown |
|
|
R9752:Diaph1
|
UTSW |
18 |
38,036,124 (GRCm39) |
missense |
unknown |
|
|
R9762:Diaph1
|
UTSW |
18 |
37,987,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCAGCACCCAGAGTTTG -3'
(R):5'- AAGGAGCTAGGTGACTACTTCG -3'
Sequencing Primer
(F):5'- AGTTTGGAGGCAGAGGCTG -3'
(R):5'- CGTCTTTGACCCTAAGAAGTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation