Incidental Mutation 'R1537:Diaph1'
ID |
169633 |
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 |
039576-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1537 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,372,124 (GRCm39) |
H86L |
possibly damaging |
Het |
4930519G04Rik |
A |
G |
5: 115,008,278 (GRCm39) |
T31A |
probably benign |
Het |
Ahcyl1 |
A |
G |
3: 107,603,505 (GRCm39) |
F30S |
probably benign |
Het |
Alox5ap |
G |
A |
5: 149,201,993 (GRCm39) |
|
probably null |
Het |
Amtn |
A |
G |
5: 88,526,729 (GRCm39) |
S53G |
probably null |
Het |
Arap3 |
A |
T |
18: 38,122,737 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
A |
3: 88,979,783 (GRCm39) |
V2769E |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Bhlha9 |
C |
T |
11: 76,563,457 (GRCm39) |
S28L |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,180,169 (GRCm39) |
Y2150N |
probably damaging |
Het |
Bmpr2 |
A |
G |
1: 59,907,285 (GRCm39) |
T793A |
probably benign |
Het |
Ccdc80 |
G |
A |
16: 44,916,299 (GRCm39) |
A352T |
probably benign |
Het |
Chst2 |
A |
T |
9: 95,288,194 (GRCm39) |
F51I |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,244,163 (GRCm39) |
N412S |
unknown |
Het |
Dclk2 |
T |
C |
3: 86,713,491 (GRCm39) |
I451V |
probably damaging |
Het |
Ddb2 |
A |
G |
2: 91,065,234 (GRCm39) |
S64P |
probably benign |
Het |
Dnai3 |
T |
C |
3: 145,748,504 (GRCm39) |
E870G |
probably damaging |
Het |
Dusp4 |
G |
T |
8: 35,285,570 (GRCm39) |
R277L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Garem1 |
A |
T |
18: 21,301,931 (GRCm39) |
|
probably null |
Het |
Gnpat |
A |
G |
8: 125,597,555 (GRCm39) |
E39G |
probably damaging |
Het |
Golgb1 |
A |
T |
16: 36,719,150 (GRCm39) |
Q352L |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,345,096 (GRCm39) |
D803G |
probably benign |
Het |
Hps1 |
A |
G |
19: 42,748,143 (GRCm39) |
|
probably null |
Het |
Ilvbl |
G |
A |
10: 78,415,565 (GRCm39) |
R327H |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,121 (GRCm39) |
D1911G |
possibly damaging |
Het |
Lmo7 |
T |
A |
14: 102,166,700 (GRCm39) |
|
probably benign |
Het |
Mcm10 |
G |
A |
2: 5,003,591 (GRCm39) |
T542I |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,051,772 (GRCm39) |
V497A |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,602,646 (GRCm39) |
A1295T |
probably damaging |
Het |
Myh7b |
A |
C |
2: 155,473,707 (GRCm39) |
D1580A |
probably damaging |
Het |
Naa20 |
A |
G |
2: 145,754,438 (GRCm39) |
I101V |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,702,846 (GRCm39) |
Y229C |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,891,575 (GRCm39) |
R6986G |
unknown |
Het |
Or51h7 |
G |
A |
7: 102,591,547 (GRCm39) |
T79I |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,570 (GRCm39) |
I211V |
probably benign |
Het |
P2rx3 |
A |
G |
2: 84,853,825 (GRCm39) |
|
probably null |
Het |
Pcdhac2 |
G |
A |
18: 37,279,539 (GRCm39) |
G840R |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,762,489 (GRCm39) |
N3654S |
unknown |
Het |
Pcnx2 |
T |
A |
8: 126,604,188 (GRCm39) |
E689D |
possibly damaging |
Het |
Pds5a |
A |
G |
5: 65,804,464 (GRCm39) |
S532P |
probably benign |
Het |
Phf1 |
G |
A |
17: 27,154,372 (GRCm39) |
|
probably null |
Het |
Pkp4 |
G |
A |
2: 59,045,147 (GRCm39) |
V41M |
probably damaging |
Het |
Prlr |
T |
G |
15: 10,328,364 (GRCm39) |
|
probably null |
Het |
Prr12 |
G |
T |
7: 44,678,366 (GRCm39) |
A1954D |
unknown |
Het |
Prtg |
A |
G |
9: 72,717,039 (GRCm39) |
T127A |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,698 (GRCm39) |
L884P |
probably damaging |
Het |
Rnf170 |
T |
A |
8: 26,629,076 (GRCm39) |
D183E |
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,875,242 (GRCm39) |
H339Q |
probably damaging |
Het |
Rubcnl |
T |
G |
14: 75,278,267 (GRCm39) |
S350R |
possibly damaging |
Het |
Sgo2b |
T |
A |
8: 64,379,536 (GRCm39) |
T1099S |
possibly damaging |
Het |
Ska2 |
T |
C |
11: 87,006,945 (GRCm39) |
S17P |
probably damaging |
Het |
Slc38a2 |
A |
G |
15: 96,591,034 (GRCm39) |
I243T |
possibly damaging |
Het |
Sptan1 |
T |
A |
2: 29,916,034 (GRCm39) |
D2007E |
possibly damaging |
Het |
Taar5 |
T |
A |
10: 23,846,620 (GRCm39) |
L6H |
probably benign |
Het |
Tbata |
G |
T |
10: 61,019,270 (GRCm39) |
|
probably null |
Het |
Tent2 |
C |
T |
13: 93,312,076 (GRCm39) |
G208D |
probably damaging |
Het |
Tmem107 |
T |
C |
11: 68,963,284 (GRCm39) |
S98P |
probably damaging |
Het |
Tpst2 |
A |
G |
5: 112,456,286 (GRCm39) |
D275G |
possibly damaging |
Het |
Ttc28 |
G |
T |
5: 111,433,184 (GRCm39) |
G2073W |
probably damaging |
Het |
Ttc7 |
T |
C |
17: 87,629,891 (GRCm39) |
V291A |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,792,327 (GRCm39) |
N2198K |
possibly damaging |
Het |
Wdr37 |
A |
T |
13: 8,887,039 (GRCm39) |
D249E |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,357 (GRCm39) |
C866F |
probably damaging |
Het |
Zfp990 |
A |
G |
4: 145,263,566 (GRCm39) |
E188G |
possibly damaging |
Het |
Zkscan2 |
A |
G |
7: 123,099,064 (GRCm39) |
S43P |
possibly damaging |
Het |
Zscan5b |
A |
G |
7: 6,236,850 (GRCm39) |
R200G |
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 |
|
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 |