Incidental Mutation 'IGL01432:Diaph1'
| ID |
84161 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Diaph1
|
| Ensembl Gene |
ENSMUSG00000024456 |
| Gene Name |
diaphanous related formin 1 |
| Synonyms |
p140mDia, Dia1, mDia1, D18Wsu154e, Diap1, Drf1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38030557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 299
(I299N)
|
| 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 |
unknown
Transcript: ENSMUST00000025337
AA Change: I308N
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: I308N
| 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 |
unknown
Transcript: ENSMUST00000080033
AA Change: I299N
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: I299N
| 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 |
unknown
Transcript: ENSMUST00000115629
AA Change: I264N
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: I264N
| 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 |
unknown
Transcript: ENSMUST00000115631
AA Change: I264N
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: I264N
| 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 |
unknown
Transcript: ENSMUST00000115634
AA Change: I299N
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: I299N
| 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: ENSMUST00000129688
|
| Coding Region Coverage |
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh9a1 |
T |
C |
1: 167,183,354 (GRCm39) |
S191P |
probably damaging |
Het |
| Aldoart2 |
A |
T |
12: 55,612,566 (GRCm39) |
I164F |
probably damaging |
Het |
| Anapc1 |
C |
A |
2: 128,475,328 (GRCm39) |
A1384S |
probably damaging |
Het |
| Arid5a |
T |
G |
1: 36,358,514 (GRCm39) |
S429A |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,242,125 (GRCm39) |
K892E |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,057,908 (GRCm39) |
V3166E |
possibly damaging |
Het |
| Bpnt1 |
G |
A |
1: 185,086,218 (GRCm39) |
W261* |
probably null |
Het |
| Calu |
A |
G |
6: 29,356,552 (GRCm39) |
D26G |
possibly damaging |
Het |
| Ccdc113 |
C |
T |
8: 96,264,885 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,605,405 (GRCm39) |
Y1003H |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,831,033 (GRCm39) |
K290R |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,967,835 (GRCm39) |
A140V |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,418,015 (GRCm39) |
I81M |
possibly damaging |
Het |
| Chn1 |
A |
T |
2: 73,462,096 (GRCm39) |
C236S |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,655,295 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
A |
T |
1: 17,817,025 (GRCm39) |
Q194L |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,895 (GRCm39) |
V1981A |
probably damaging |
Het |
| Cttn |
A |
G |
7: 144,015,043 (GRCm39) |
I55T |
probably damaging |
Het |
| Ddx46 |
G |
T |
13: 55,785,835 (GRCm39) |
|
probably benign |
Het |
| Dll1 |
A |
G |
17: 15,588,768 (GRCm39) |
Y636H |
probably damaging |
Het |
| Eng |
A |
T |
2: 32,559,544 (GRCm39) |
Q111L |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,578,324 (GRCm39) |
V389A |
possibly damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,547,043 (GRCm39) |
T461S |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,268,434 (GRCm39) |
Y1269H |
probably damaging |
Het |
| Gm5852 |
A |
G |
3: 93,635,086 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Gnrhr |
C |
T |
5: 86,330,052 (GRCm39) |
G323R |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,182,229 (GRCm39) |
E661D |
possibly damaging |
Het |
| Grik4 |
A |
T |
9: 42,432,472 (GRCm39) |
C842S |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,216,519 (GRCm39) |
|
probably benign |
Het |
| Kif5c |
A |
G |
2: 49,591,089 (GRCm39) |
T314A |
probably damaging |
Het |
| Klhdc1 |
A |
C |
12: 69,298,751 (GRCm39) |
K112T |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,720,393 (GRCm39) |
T3865A |
unknown |
Het |
| Lgr5 |
T |
C |
10: 115,288,997 (GRCm39) |
K477R |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,206,351 (GRCm39) |
L106Q |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,675,655 (GRCm39) |
M26K |
probably damaging |
Het |
| Mettl2 |
T |
C |
11: 105,017,348 (GRCm39) |
V9A |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,864,202 (GRCm39) |
D456G |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,689 (GRCm39) |
T344A |
possibly damaging |
Het |
| Npr1 |
T |
A |
3: 90,370,543 (GRCm39) |
I308F |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,075,466 (GRCm39) |
V509M |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,924,583 (GRCm39) |
M5727V |
probably benign |
Het |
| Or2d4 |
T |
C |
7: 106,543,748 (GRCm39) |
I153M |
possibly damaging |
Het |
| Or4c114 |
T |
A |
2: 88,904,545 (GRCm39) |
I297F |
probably benign |
Het |
| Or4k15c |
T |
A |
14: 50,321,404 (GRCm39) |
T245S |
probably benign |
Het |
| Or5an1c |
A |
G |
19: 12,218,891 (GRCm39) |
S45P |
probably damaging |
Het |
| Pcgf1 |
T |
C |
6: 83,055,398 (GRCm39) |
I11T |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,893 (GRCm39) |
V276A |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,202,168 (GRCm39) |
M1K |
probably null |
Het |
| Plec |
T |
C |
15: 76,074,728 (GRCm39) |
E413G |
probably damaging |
Het |
| Plxna2 |
G |
T |
1: 194,326,626 (GRCm39) |
A187S |
possibly damaging |
Het |
| Polq |
A |
T |
16: 36,892,184 (GRCm39) |
|
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,143,202 (GRCm39) |
K139E |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,541,216 (GRCm39) |
D240G |
probably benign |
Het |
| Ptpn12 |
A |
T |
5: 21,203,553 (GRCm39) |
Y408* |
probably null |
Het |
| Ptprt |
A |
G |
2: 162,109,999 (GRCm39) |
|
probably benign |
Het |
| Rnf6 |
A |
T |
5: 146,152,931 (GRCm39) |
S95T |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,866,090 (GRCm39) |
S287G |
possibly damaging |
Het |
| Samd4b |
A |
G |
7: 28,113,491 (GRCm39) |
F158S |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,182,012 (GRCm39) |
I571L |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,738,285 (GRCm39) |
T527A |
probably damaging |
Het |
| Smg9 |
T |
C |
7: 24,120,691 (GRCm39) |
|
probably null |
Het |
| Snx25 |
A |
G |
8: 46,558,197 (GRCm39) |
L270P |
probably damaging |
Het |
| Ssh1 |
G |
T |
5: 114,096,883 (GRCm39) |
T165N |
probably benign |
Het |
| Stk24 |
T |
A |
14: 121,540,218 (GRCm39) |
E127V |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,661,689 (GRCm39) |
V914A |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,366,506 (GRCm39) |
|
probably benign |
Het |
| Tbcel |
A |
T |
9: 42,355,817 (GRCm39) |
L114Q |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,884,767 (GRCm39) |
D816G |
probably benign |
Het |
| Uhrf1 |
G |
A |
17: 56,625,250 (GRCm39) |
V566M |
probably damaging |
Het |
| Ulk4 |
T |
A |
9: 121,095,367 (GRCm39) |
E95D |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,201 (GRCm39) |
M6T |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,661,983 (GRCm39) |
V611I |
possibly damaging |
Het |
| Vwde |
G |
T |
6: 13,193,239 (GRCm39) |
H367N |
probably benign |
Het |
| Xpo6 |
A |
G |
7: 125,723,553 (GRCm39) |
V585A |
probably benign |
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 |
|
|
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 |
|
|
R6151:Diaph1
|
UTSW |
18 |
37,986,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation