Incidental Mutation 'R3891:Diaph1'
ID |
310418 |
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 |
040803-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 38033691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000025337
|
SMART Domains |
Protein: ENSMUSP00000025337 Gene: ENSMUSG00000024456
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 benign
Transcript: ENSMUST00000080033
|
SMART Domains |
Protein: ENSMUSP00000078942 Gene: ENSMUSG00000024456
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 benign
Transcript: ENSMUST00000115629
|
SMART Domains |
Protein: ENSMUSP00000111292 Gene: ENSMUSG00000024456
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 benign
Transcript: ENSMUST00000115631
|
SMART Domains |
Protein: ENSMUSP00000111294 Gene: ENSMUSG00000024456
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 benign
Transcript: ENSMUST00000115634
|
SMART Domains |
Protein: ENSMUSP00000111297 Gene: ENSMUSG00000024456
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (51/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
Skor2 |
A |
G |
18: 76,946,350 (GRCm39) |
D24G |
unknown |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
Stard10 |
G |
A |
7: 100,993,137 (GRCm39) |
R231Q |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
Vwa1 |
T |
C |
4: 155,857,651 (GRCm39) |
E49G |
probably damaging |
Het |
Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGGAGTATCACGATGGTATC -3'
(R):5'- TTGGTTGCCGTTAAGCCTGC -3'
Sequencing Primer
(F):5'- CACGATGGTATCAAAAACGTTTC -3'
(R):5'- CGTTAAGCCTGCCTCCTTTC -3'
|
Posted On |
2015-04-17 |