Incidental Mutation 'R7073:Diaph1'
ID |
549070 |
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 |
045169-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7073 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to G
at 38022867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078942
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
AlphaFold |
O08808 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
G |
13: 81,709,593 (GRCm39) |
E1133D |
probably damaging |
Het |
Ankrd13b |
A |
T |
11: 77,363,335 (GRCm39) |
D505E |
probably benign |
Het |
Ano1 |
C |
T |
7: 144,192,289 (GRCm39) |
E361K |
probably damaging |
Het |
Arap3 |
T |
A |
18: 38,107,495 (GRCm39) |
K1341* |
probably null |
Het |
Arhgef17 |
A |
C |
7: 100,579,198 (GRCm39) |
Y583* |
probably null |
Het |
Ash1l |
G |
A |
3: 88,892,647 (GRCm39) |
E1509K |
probably damaging |
Het |
B430305J03Rik |
T |
G |
3: 61,271,681 (GRCm39) |
R21S |
unknown |
Het |
Bbof1 |
A |
G |
12: 84,473,609 (GRCm39) |
E313G |
probably damaging |
Het |
Catsperb |
C |
T |
12: 101,475,497 (GRCm39) |
T347I |
probably benign |
Het |
Ccdc24 |
G |
T |
4: 117,729,201 (GRCm39) |
A92D |
probably damaging |
Het |
Ccdc63 |
T |
C |
5: 122,249,073 (GRCm39) |
T419A |
probably benign |
Het |
Ccdc7a |
C |
T |
8: 129,618,866 (GRCm39) |
V893I |
possibly damaging |
Het |
Ccdc88b |
G |
T |
19: 6,831,330 (GRCm39) |
D537E |
probably benign |
Het |
Cd276 |
T |
C |
9: 58,444,615 (GRCm39) |
S119G |
probably damaging |
Het |
Cdkn3 |
T |
C |
14: 47,004,647 (GRCm39) |
Y70H |
possibly damaging |
Het |
Cdo1 |
G |
A |
18: 46,861,266 (GRCm39) |
|
probably benign |
Het |
Cdr2 |
A |
T |
7: 120,581,247 (GRCm39) |
F10Y |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,374,865 (GRCm39) |
K1370N |
possibly damaging |
Het |
Crb1 |
T |
A |
1: 139,176,049 (GRCm39) |
I645F |
probably damaging |
Het |
Cul7 |
T |
C |
17: 46,969,657 (GRCm39) |
W975R |
probably damaging |
Het |
Ddx39b |
A |
C |
17: 35,471,826 (GRCm39) |
E324A |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,321,318 (GRCm39) |
R3917* |
probably null |
Het |
Dnph1 |
T |
A |
17: 46,807,815 (GRCm39) |
L27Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,119,788 (GRCm39) |
F880S |
probably damaging |
Het |
Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,106,319 (GRCm39) |
Y302* |
probably null |
Het |
Ergic2 |
G |
T |
6: 148,096,707 (GRCm39) |
H186Q |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,453,031 (GRCm39) |
D12G |
probably benign |
Het |
Fbxw16 |
A |
T |
9: 109,270,123 (GRCm39) |
V206D |
probably damaging |
Het |
Fhod1 |
A |
T |
8: 106,063,771 (GRCm39) |
V278D |
unknown |
Het |
Gba2 |
G |
C |
4: 43,573,753 (GRCm39) |
Q180E |
probably damaging |
Het |
Grhl3 |
G |
A |
4: 135,300,723 (GRCm39) |
L5F |
probably benign |
Het |
H2-T15 |
A |
T |
17: 36,369,235 (GRCm39) |
C7S |
unknown |
Het |
Ifit1bl1 |
C |
T |
19: 34,576,667 (GRCm39) |
|
probably null |
Het |
Ift57 |
A |
G |
16: 49,584,230 (GRCm39) |
T413A |
probably benign |
Het |
Itga2 |
A |
G |
13: 114,996,149 (GRCm39) |
F714S |
probably damaging |
Het |
Jmy |
A |
G |
13: 93,577,841 (GRCm39) |
S776P |
probably benign |
Het |
Kbtbd8 |
G |
A |
6: 95,098,814 (GRCm39) |
A108T |
probably damaging |
Het |
Kpna6 |
G |
A |
4: 129,548,139 (GRCm39) |
A230V |
probably damaging |
Het |
Lrfn1 |
C |
T |
7: 28,159,397 (GRCm39) |
L439F |
possibly damaging |
Het |
Lrrc1 |
T |
A |
9: 77,375,847 (GRCm39) |
I147F |
probably benign |
Het |
Lrrc7 |
C |
T |
3: 157,832,884 (GRCm39) |
G1425R |
probably damaging |
Het |
Madd |
T |
A |
2: 90,992,854 (GRCm39) |
I1022F |
probably damaging |
Het |
Map2k2 |
A |
T |
10: 80,942,017 (GRCm39) |
T13S |
probably benign |
Het |
Mdc1 |
G |
A |
17: 36,164,960 (GRCm39) |
V1459I |
probably benign |
Het |
Mdh1b |
G |
A |
1: 63,760,719 (GRCm39) |
T114M |
probably damaging |
Het |
Mfsd2a |
T |
C |
4: 122,845,088 (GRCm39) |
I208V |
possibly damaging |
Het |
Mmrn1 |
T |
A |
6: 60,965,411 (GRCm39) |
D1147E |
probably damaging |
Het |
Nbeal2 |
T |
A |
9: 110,455,177 (GRCm39) |
I2574F |
probably damaging |
Het |
Nr1d1 |
T |
G |
11: 98,662,892 (GRCm39) |
S34R |
probably damaging |
Het |
Nr3c1 |
A |
T |
18: 39,619,449 (GRCm39) |
D279E |
probably benign |
Het |
Nrde2 |
T |
C |
12: 100,098,747 (GRCm39) |
D640G |
probably benign |
Het |
Odf4 |
A |
G |
11: 68,817,514 (GRCm39) |
L58P |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,631 (GRCm39) |
I49F |
probably benign |
Het |
Or4p22 |
A |
T |
2: 88,317,651 (GRCm39) |
I192F |
probably benign |
Het |
Otud6b |
A |
C |
4: 14,811,743 (GRCm39) |
M300R |
probably damaging |
Het |
Pamr1 |
T |
A |
2: 102,471,280 (GRCm39) |
D534E |
probably benign |
Het |
Pcdh7 |
T |
A |
5: 57,878,299 (GRCm39) |
V618E |
probably benign |
Het |
Pcgf6 |
A |
C |
19: 47,031,226 (GRCm39) |
N266K |
possibly damaging |
Het |
Plcz1 |
A |
T |
6: 139,968,849 (GRCm39) |
Y196* |
probably null |
Het |
Plxna1 |
A |
T |
6: 89,334,311 (GRCm39) |
L106Q |
probably damaging |
Het |
Qrich2 |
G |
A |
11: 116,337,701 (GRCm39) |
A184V |
probably damaging |
Het |
Rimkla |
A |
G |
4: 119,325,275 (GRCm39) |
L378S |
probably benign |
Het |
Rufy1 |
G |
T |
11: 50,295,290 (GRCm39) |
H472Q |
probably benign |
Het |
Samd7 |
T |
A |
3: 30,810,631 (GRCm39) |
M216K |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,375,856 (GRCm39) |
Y468* |
probably null |
Het |
Scn2a |
T |
G |
2: 65,558,787 (GRCm39) |
L1194R |
probably benign |
Het |
Sgo2a |
T |
A |
1: 58,056,944 (GRCm39) |
S1043T |
possibly damaging |
Het |
Slc6a17 |
G |
T |
3: 107,378,755 (GRCm39) |
H642Q |
probably benign |
Het |
Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
St6galnac3 |
T |
A |
3: 153,117,274 (GRCm39) |
T150S |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,941,911 (GRCm39) |
I627N |
possibly damaging |
Het |
Sv2c |
A |
T |
13: 96,224,758 (GRCm39) |
C184S |
probably damaging |
Het |
Tm7sf2 |
A |
T |
19: 6,116,527 (GRCm39) |
|
probably null |
Het |
Ttc28 |
T |
C |
5: 111,371,282 (GRCm39) |
I608T |
possibly damaging |
Het |
Vmn1r183 |
T |
G |
7: 23,754,926 (GRCm39) |
L243R |
probably damaging |
Het |
Vmn1r68 |
T |
C |
7: 10,261,778 (GRCm39) |
T107A |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
Zfp516 |
T |
A |
18: 83,006,325 (GRCm39) |
|
probably null |
Het |
Zpbp2 |
A |
G |
11: 98,443,335 (GRCm39) |
D56G |
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 |
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 |
|
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 |
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'- AAGGGACATGGTAAGCTCTCC -3'
(R):5'- TCTGAAACCAGGAGATTTGGGG -3'
Sequencing Primer
(F):5'- ATGGTAAGCTCTCCATGTCTG -3'
(R):5'- CTGATTACCAGTGGACAGACC -3'
|
Posted On |
2019-05-15 |