Incidental Mutation 'R1536:Diaph1'
| ID |
169558 |
| 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 |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 38029146 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 null
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 null
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 null
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 null
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 null
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 |
0.9584 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGAATGACTGCCAGGGTGATG -3'
(R):5'- ACCTTTCCTTAGAGAGGCTGGACTG -3'
Sequencing Primer
(F):5'- gcatcaaactcagaagagatcc -3'
(R):5'- CAGCCCTGATCATCTCTGAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation