Incidental Mutation 'R8073:Diaph1'
| ID |
620380 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8073 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 38024850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 537
(G537E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
| AlphaFold |
O08808 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025337
AA Change: G546E
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: G546E
| 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 |
unknown
Transcript: ENSMUST00000080033
AA Change: G537E
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: G537E
| 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 |
unknown
Transcript: ENSMUST00000115629
AA Change: G502E
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: G502E
| 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 |
unknown
Transcript: ENSMUST00000115631
AA Change: G502E
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: G502E
| 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 |
unknown
Transcript: ENSMUST00000115634
AA Change: G537E
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: G537E
| 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: 99.2%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
C |
T |
4: 126,337,019 (GRCm39) |
V533I |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,842,736 (GRCm39) |
T452S |
probably damaging |
Het |
| Angpt1 |
C |
T |
15: 42,301,699 (GRCm39) |
M436I |
probably benign |
Het |
| B3galt4 |
T |
C |
17: 34,169,797 (GRCm39) |
K147R |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,910,080 (GRCm39) |
T1491K |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,394,881 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,764,675 (GRCm39) |
F124L |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,163,281 (GRCm39) |
Y436C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,823,356 (GRCm39) |
N1684S |
probably benign |
Het |
| Cflar |
T |
C |
1: 58,791,981 (GRCm39) |
L428P |
|
Het |
| Clk4 |
T |
C |
11: 51,168,716 (GRCm39) |
I363T |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,434,002 (GRCm39) |
T273A |
probably benign |
Het |
| Col5a1 |
C |
T |
2: 27,852,141 (GRCm39) |
A546V |
possibly damaging |
Het |
| Col6a6 |
T |
A |
9: 105,659,146 (GRCm39) |
N600Y |
probably benign |
Het |
| Cxadr |
A |
G |
16: 78,130,301 (GRCm39) |
N156S |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,500 (GRCm39) |
V1219D |
probably damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,726,001 (GRCm39) |
Y95* |
probably null |
Het |
| Dnajc5g |
A |
G |
5: 31,269,029 (GRCm39) |
T137A |
probably benign |
Het |
| Dpy19l3 |
G |
A |
7: 35,429,173 (GRCm39) |
T89M |
probably damaging |
Het |
| Dusp19 |
C |
A |
2: 80,447,828 (GRCm39) |
T34N |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,555,142 (GRCm39) |
V68A |
possibly damaging |
Het |
| Epha7 |
T |
A |
4: 28,821,022 (GRCm39) |
D62E |
probably damaging |
Het |
| Frmd4b |
A |
T |
6: 97,283,674 (GRCm39) |
V445E |
probably benign |
Het |
| Gp9 |
A |
C |
6: 87,756,336 (GRCm39) |
D117A |
probably benign |
Het |
| Haao |
T |
C |
17: 84,142,649 (GRCm39) |
E152G |
possibly damaging |
Het |
| Ift70a2 |
A |
G |
2: 75,806,997 (GRCm39) |
V505A |
probably damaging |
Het |
| Ighd |
A |
G |
12: 113,379,789 (GRCm39) |
S52P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,358,255 (GRCm39) |
K361E |
probably benign |
Het |
| Lgi2 |
T |
A |
5: 52,704,013 (GRCm39) |
E206V |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,754,749 (GRCm39) |
V220E |
probably benign |
Het |
| Moxd1 |
G |
T |
10: 24,128,848 (GRCm39) |
G200C |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,923,417 (GRCm39) |
Q55K |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,260,260 (GRCm39) |
L672M |
probably damaging |
Het |
| Npvf |
A |
C |
6: 50,631,349 (GRCm39) |
F9V |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,179,104 (GRCm39) |
|
probably null |
Het |
| Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
| Obscn |
C |
T |
11: 59,026,516 (GRCm39) |
R229H |
probably benign |
Het |
| Olfml2a |
C |
A |
2: 38,847,766 (GRCm39) |
R442S |
probably damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,552 (GRCm39) |
D270G |
probably benign |
Het |
| Or2ag16 |
C |
A |
7: 106,352,008 (GRCm39) |
E196* |
probably null |
Het |
| Or4c120 |
T |
A |
2: 89,001,284 (GRCm39) |
I91F |
probably damaging |
Het |
| Or5b12b |
T |
A |
19: 12,861,980 (GRCm39) |
V245E |
probably benign |
Het |
| Or9s13 |
T |
A |
1: 92,547,806 (GRCm39) |
D59E |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,398 (GRCm39) |
F135S |
probably damaging |
Het |
| Pde4a |
A |
T |
9: 21,122,065 (GRCm39) |
I654F |
probably damaging |
Het |
| Pip5kl1 |
G |
A |
2: 32,473,440 (GRCm39) |
R359Q |
possibly damaging |
Het |
| Ppp2ca |
T |
C |
11: 52,010,124 (GRCm39) |
V244A |
possibly damaging |
Het |
| Qrich1 |
T |
A |
9: 108,411,627 (GRCm39) |
L384H |
possibly damaging |
Het |
| Rab4a |
T |
C |
8: 124,554,135 (GRCm39) |
V62A |
possibly damaging |
Het |
| Ranbp10 |
A |
G |
8: 106,513,261 (GRCm39) |
L217P |
probably damaging |
Het |
| Rhebl1 |
C |
T |
15: 98,776,405 (GRCm39) |
A131T |
probably benign |
Het |
| Rnf150 |
A |
T |
8: 83,590,546 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
A |
2: 158,456,685 (GRCm39) |
A447T |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,803 (GRCm39) |
M45K |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,928,705 (GRCm39) |
N88D |
probably damaging |
Het |
| Spred2 |
C |
A |
11: 19,958,422 (GRCm39) |
T128N |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,030,471 (GRCm39) |
E776G |
possibly damaging |
Het |
| Tet1 |
C |
G |
10: 62,649,132 (GRCm39) |
E156Q |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,845,725 (GRCm39) |
N166S |
probably benign |
Het |
| Trim43a |
C |
A |
9: 88,464,490 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,607,305 (GRCm39) |
M543L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,574,181 (GRCm39) |
K25571E |
probably damaging |
Het |
| Vamp5 |
C |
A |
6: 72,357,436 (GRCm39) |
|
probably benign |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,462 (GRCm39) |
Q287L |
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,062,682 (GRCm39) |
V517E |
unknown |
Het |
| Zfp467 |
A |
T |
6: 48,414,959 (GRCm39) |
H564Q |
probably damaging |
Het |
| Zfp51 |
G |
A |
17: 21,684,294 (GRCm39) |
C303Y |
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 |
|
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 |
|
|
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'- GCTGTAAGCAACTTTTATCACGC -3'
(R):5'- CAGAATTAACAGCGCGGCAC -3'
Sequencing Primer
(F):5'- GTAAGCAACTTTTATCACGCTTTAC -3'
(R):5'- GGCACGAGTTACAAGTAGAAATG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation