Incidental Mutation 'IGL02325:Diaph1'
| ID |
288438 |
| 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 # |
IGL02325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37986653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1111
(K1111E)
|
| 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: K1120E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: K1120E
| 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: K1111E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: K1111E
| 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: K1076E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: K1076E
| 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: K1076E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: K1076E
| 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: K1111E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: K1111E
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
A |
T |
5: 115,250,013 (GRCm39) |
I233N |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,648,303 (GRCm39) |
G393S |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,603,580 (GRCm39) |
D822G |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,552 (GRCm39) |
N817S |
probably benign |
Het |
| Aoah |
G |
A |
13: 21,101,295 (GRCm39) |
E272K |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,882,829 (GRCm39) |
D235G |
possibly damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,801,788 (GRCm39) |
Q110K |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,320,187 (GRCm39) |
T875K |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,754,782 (GRCm39) |
V264A |
probably benign |
Het |
| Col15a1 |
A |
G |
4: 47,289,364 (GRCm39) |
T854A |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,060,999 (GRCm39) |
E114V |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,545,074 (GRCm39) |
D677E |
possibly damaging |
Het |
| Ddx24 |
A |
G |
12: 103,382,525 (GRCm39) |
V640A |
probably damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,804 (GRCm39) |
|
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,309,772 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,725,043 (GRCm39) |
D4370G |
probably damaging |
Het |
| Eef1e1 |
A |
T |
13: 38,840,012 (GRCm39) |
|
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,206,066 (GRCm39) |
I101T |
probably benign |
Het |
| Gpr142 |
G |
T |
11: 114,696,947 (GRCm39) |
L164F |
probably damaging |
Het |
| Gtf2h5 |
T |
A |
17: 6,131,106 (GRCm39) |
|
probably null |
Het |
| Hap1 |
T |
A |
11: 100,245,190 (GRCm39) |
|
probably null |
Het |
| Hemgn |
T |
G |
4: 46,396,085 (GRCm39) |
I384L |
probably benign |
Het |
| Ints3 |
A |
T |
3: 90,311,349 (GRCm39) |
H419Q |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,383,026 (GRCm39) |
L132P |
probably damaging |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,159 (GRCm39) |
V241M |
probably damaging |
Het |
| Lrguk |
A |
G |
6: 34,106,114 (GRCm39) |
E713G |
probably benign |
Het |
| Lrrk2 |
G |
T |
15: 91,610,511 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
A |
G |
7: 106,781,523 (GRCm39) |
D240G |
possibly damaging |
Het |
| Omt2b |
A |
T |
9: 78,235,854 (GRCm39) |
T60S |
possibly damaging |
Het |
| Or10ag52 |
G |
T |
2: 87,043,850 (GRCm39) |
G205W |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,733 (GRCm39) |
N569D |
possibly damaging |
Het |
| Plcd3 |
G |
A |
11: 102,971,447 (GRCm39) |
R66* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,897,641 (GRCm39) |
R212Q |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,020 (GRCm39) |
L371Q |
probably damaging |
Het |
| Rnf207 |
A |
T |
4: 152,396,237 (GRCm39) |
I509N |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,686,977 (GRCm39) |
S1030A |
possibly damaging |
Het |
| Shank1 |
C |
A |
7: 43,976,504 (GRCm39) |
S534* |
probably null |
Het |
| Sntg2 |
T |
C |
12: 30,245,542 (GRCm39) |
T495A |
probably benign |
Het |
| Spem2 |
A |
T |
11: 69,707,789 (GRCm39) |
V392D |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,029,453 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
A |
T |
1: 39,433,321 (GRCm39) |
F287Y |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,779,043 (GRCm39) |
D422G |
probably benign |
Het |
| Tppp |
G |
A |
13: 74,169,295 (GRCm39) |
A12T |
probably benign |
Het |
| Usp46 |
C |
T |
5: 74,197,689 (GRCm39) |
|
probably null |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,448 (GRCm39) |
V205I |
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 |
|
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 |
2015-04-16 |
Incidental Mutation