Incidental Mutation 'R4077:Diaph1'
ID |
316653 |
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 |
041622-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37986636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1116
(E1116D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
AlphaFold |
O08808 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025337
AA Change: E1125D
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025337 Gene: ENSMUSG00000024456 AA Change: E1125D
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 |
possibly damaging
Transcript: ENSMUST00000080033
AA Change: E1116D
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078942 Gene: ENSMUSG00000024456 AA Change: E1116D
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 |
possibly damaging
Transcript: ENSMUST00000115629
AA Change: E1081D
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000111292 Gene: ENSMUSG00000024456 AA Change: E1081D
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 |
possibly damaging
Transcript: ENSMUST00000115631
AA Change: E1081D
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000111294 Gene: ENSMUSG00000024456 AA Change: E1081D
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 |
possibly damaging
Transcript: ENSMUST00000115634
AA Change: E1116D
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000111297 Gene: ENSMUSG00000024456 AA Change: E1116D
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
|
Meta Mutation Damage Score |
0.0827 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
99% (81/82) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
T |
A |
2: 150,690,379 (GRCm39) |
|
probably null |
Het |
Adam33 |
T |
C |
2: 130,905,444 (GRCm39) |
|
probably benign |
Het |
Adrm1b |
A |
C |
3: 92,336,195 (GRCm39) |
|
probably benign |
Het |
Akap8 |
C |
T |
17: 32,531,272 (GRCm39) |
R380Q |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,886,588 (GRCm39) |
M1131V |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,806,850 (GRCm39) |
|
probably null |
Het |
Btaf1 |
A |
G |
19: 36,963,879 (GRCm39) |
T817A |
probably benign |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cadm3 |
A |
G |
1: 173,169,236 (GRCm39) |
V293A |
probably benign |
Het |
Cdk11b |
C |
T |
4: 155,724,204 (GRCm39) |
|
probably benign |
Het |
Cdnf |
A |
G |
2: 3,522,060 (GRCm39) |
Y84C |
probably damaging |
Het |
Chdh |
T |
C |
14: 29,757,297 (GRCm39) |
S407P |
probably damaging |
Het |
Cmtr1 |
C |
A |
17: 29,904,949 (GRCm39) |
T300K |
probably damaging |
Het |
Dennd2d |
A |
T |
3: 106,389,939 (GRCm39) |
|
probably benign |
Het |
Eif1ad3 |
A |
G |
12: 87,843,401 (GRCm39) |
K16R |
unknown |
Het |
Eif1ad3 |
A |
T |
12: 87,843,710 (GRCm39) |
D119V |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,544,905 (GRCm39) |
|
probably null |
Het |
Erbb4 |
T |
C |
1: 68,079,496 (GRCm39) |
T1195A |
probably benign |
Het |
Ermard |
T |
A |
17: 15,273,638 (GRCm39) |
S408T |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,812,772 (GRCm39) |
R1442S |
probably damaging |
Het |
F13b |
T |
A |
1: 139,429,508 (GRCm39) |
F9I |
unknown |
Het |
Fnbp4 |
C |
T |
2: 90,588,821 (GRCm39) |
R531* |
probably null |
Het |
Gdf6 |
A |
G |
4: 9,844,776 (GRCm39) |
Y100C |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,938,226 (GRCm39) |
T149A |
probably damaging |
Het |
Grm8 |
T |
C |
6: 27,760,208 (GRCm39) |
H374R |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,228,501 (GRCm39) |
V493A |
probably damaging |
Het |
Hgs |
A |
G |
11: 120,368,202 (GRCm39) |
K277E |
probably damaging |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Hoxa11 |
A |
T |
6: 52,222,504 (GRCm39) |
Y66N |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Igdcc4 |
T |
A |
9: 65,039,047 (GRCm39) |
L944Q |
probably damaging |
Het |
Ighv3-1 |
C |
A |
12: 113,928,107 (GRCm39) |
S84I |
probably damaging |
Het |
Iqgap2 |
T |
C |
13: 95,794,375 (GRCm39) |
D1199G |
probably damaging |
Het |
Kcnk10 |
A |
T |
12: 98,401,205 (GRCm39) |
M490K |
probably benign |
Het |
Kirrel1 |
A |
G |
3: 86,992,387 (GRCm39) |
|
probably null |
Het |
Lias |
A |
T |
5: 65,552,768 (GRCm39) |
T124S |
probably benign |
Het |
Lrig3 |
A |
C |
10: 125,845,656 (GRCm39) |
E695A |
probably damaging |
Het |
Lrpap1 |
A |
G |
5: 35,253,381 (GRCm39) |
I261T |
possibly damaging |
Het |
Lrrc37a |
T |
A |
11: 103,388,808 (GRCm39) |
T2206S |
unknown |
Het |
Macf1 |
T |
A |
4: 123,365,884 (GRCm39) |
Q2959L |
probably benign |
Het |
Mis12 |
A |
G |
11: 70,916,134 (GRCm39) |
T56A |
probably benign |
Het |
Or10ag56 |
T |
A |
2: 87,139,208 (GRCm39) |
M25K |
probably null |
Het |
Or1l4 |
T |
A |
2: 37,092,024 (GRCm39) |
I257N |
possibly damaging |
Het |
Or4k41 |
A |
G |
2: 111,279,848 (GRCm39) |
D121G |
probably damaging |
Het |
Or5b99 |
T |
C |
19: 12,977,235 (GRCm39) |
V295A |
probably damaging |
Het |
Otof |
A |
T |
5: 30,576,850 (GRCm39) |
L134Q |
possibly damaging |
Het |
Pds5b |
T |
A |
5: 150,717,824 (GRCm39) |
V1155E |
possibly damaging |
Het |
Pdss2 |
A |
T |
10: 43,278,518 (GRCm39) |
M342L |
probably benign |
Het |
Phyhipl |
C |
T |
10: 70,404,903 (GRCm39) |
V57I |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,501,647 (GRCm39) |
|
probably null |
Het |
Pnck |
A |
T |
X: 72,701,761 (GRCm39) |
V93E |
probably damaging |
Het |
Proser1 |
A |
G |
3: 53,385,962 (GRCm39) |
T615A |
probably damaging |
Het |
Ptprk |
G |
A |
10: 28,139,508 (GRCm39) |
V78I |
probably benign |
Het |
Ptprv |
A |
G |
1: 135,038,168 (GRCm39) |
|
noncoding transcript |
Het |
Ranbp3l |
A |
G |
15: 9,060,838 (GRCm39) |
N233S |
probably damaging |
Het |
Rassf2 |
G |
A |
2: 131,854,522 (GRCm39) |
P7S |
probably benign |
Het |
Sart1 |
A |
T |
19: 5,432,771 (GRCm39) |
L521Q |
possibly damaging |
Het |
Scgb1b21 |
T |
A |
7: 33,227,118 (GRCm39) |
|
noncoding transcript |
Het |
Scyl2 |
A |
T |
10: 89,476,458 (GRCm39) |
M889K |
probably benign |
Het |
Secisbp2l |
A |
G |
2: 125,593,785 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,063,522 (GRCm39) |
E931G |
probably benign |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tdrd1 |
A |
G |
19: 56,819,505 (GRCm39) |
M2V |
probably benign |
Het |
Tjp2 |
A |
T |
19: 24,086,182 (GRCm39) |
V780E |
possibly damaging |
Het |
Tram1 |
A |
G |
1: 13,636,599 (GRCm39) |
V358A |
probably benign |
Het |
Unc13c |
C |
T |
9: 73,643,821 (GRCm39) |
W1214* |
probably null |
Het |
Vps13b |
T |
C |
15: 35,455,274 (GRCm39) |
C728R |
probably damaging |
Het |
Wwox |
A |
G |
8: 115,166,481 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
G |
A |
1: 139,357,064 (GRCm39) |
V440I |
probably benign |
Het |
Zfp777 |
T |
C |
6: 48,002,456 (GRCm39) |
S589G |
probably benign |
Het |
Zfp955a |
A |
G |
17: 33,460,675 (GRCm39) |
Y486H |
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 |
R3891:Diaph1
|
UTSW |
18 |
38,033,691 (GRCm39) |
splice site |
probably benign |
|
R3892:Diaph1
|
UTSW |
18 |
38,033,691 (GRCm39) |
splice site |
probably benign |
|
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'- TCATGTCGATGAGCTGCTCG -3'
(R):5'- ATGATTCTCTGACCTGGGCC -3'
Sequencing Primer
(F):5'- ATGAGCTGCTCGCGCTTC -3'
(R):5'- TAAAGGTGTGTGCCATCACC -3'
|
Posted On |
2015-05-15 |