Incidental Mutation 'R6983:Diaph1'
| ID |
542816 |
| 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 |
045090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6983 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38022822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 749
(V749E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
| AlphaFold |
O08808 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025337
AA Change: V793E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: V793E
| 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: V784E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: V784E
| 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: V749E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: V749E
| 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: V749E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: V749E
| 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: V784E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: V784E
| 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 |
|
| Meta Mutation Damage Score |
0.8636 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,583,389 (GRCm39) |
F288L |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
| Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
| Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
| Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
| Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
| Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
| Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
| Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
| Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
| Lonp2 |
T |
A |
8: 87,350,876 (GRCm39) |
V22E |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
| Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,709,973 (GRCm39) |
V306D |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,271,469 (GRCm39) |
L368P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
| Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
| Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
| Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
| Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
| Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
| Slc2a9 |
A |
C |
5: 38,549,064 (GRCm39) |
I243S |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
| Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,118 (GRCm39) |
V19A |
probably benign |
Het |
| Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
| Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
| Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
|
|
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'- GAGCTTTTGGTACCACGGTC -3'
(R):5'- TGTCTGATTCTCAGCACAGGC -3'
Sequencing Primer
(F):5'- GGAAAAATCAATGTCTCTCCGTCCTG -3'
(R):5'- CACAGGCTAGTCAACGTTGTTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation