Incidental Mutation 'R5294:Diaph1'
| ID |
405336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Diaph1
|
| Ensembl Gene |
ENSMUSG00000024456 |
| Gene Name |
diaphanous related formin 1 |
| Synonyms |
Drf1, Dia1, D18Wsu154e, mDia1, Diap1, p140mDia |
| MMRRC Submission |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37843601-37935476 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37897580 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 274
(M274V)
|
| 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 |
unknown
Transcript: ENSMUST00000025337
AA Change: M283V
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: M283V
| 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: M274V
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: M274V
| 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: M239V
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: M239V
| 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: M239V
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: M239V
| 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: M274V
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: M274V
| 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: ENSMUST00000129688
|
| Meta Mutation Damage Score |
0.6984 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,152,003 (GRCm38) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,391,519 (GRCm38) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,241,952 (GRCm38) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,811,157 (GRCm38) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,185,124 (GRCm38) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,691,055 (GRCm38) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,402,705 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,516,439 (GRCm38) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,988,048 (GRCm38) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,628,766 (GRCm38) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,978,602 (GRCm38) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,947,900 (GRCm38) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,878,981 (GRCm38) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,610,440 (GRCm38) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,161,116 (GRCm38) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 19,966,316 (GRCm38) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,873,483 (GRCm38) |
M52K |
possibly damaging |
Het |
| Dars |
A |
T |
1: 128,364,302 (GRCm38) |
F480I |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,061,153 (GRCm38) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,211,430 (GRCm38) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,496,439 (GRCm38) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,436,644 (GRCm38) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,997,500 (GRCm38) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,570,036 (GRCm38) |
S91N |
possibly damaging |
Het |
| Gm884 |
A |
G |
11: 103,616,231 (GRCm38) |
|
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,255,710 (GRCm38) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,834,792 (GRCm38) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 105,523,297 (GRCm38) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,707,336 (GRCm38) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,121,832 (GRCm38) |
Y123* |
probably null |
Het |
| Mis18bp1 |
A |
C |
12: 65,157,043 (GRCm38) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,409,873 (GRCm38) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,427,794 (GRCm38) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,400,800 (GRCm38) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,517,506 (GRCm38) |
|
probably null |
Het |
| Olfr248 |
A |
T |
1: 174,391,225 (GRCm38) |
Y52F |
probably benign |
Het |
| Olfr692 |
C |
T |
7: 105,368,413 (GRCm38) |
T20I |
probably benign |
Het |
| Olfr748 |
A |
G |
14: 50,710,443 (GRCm38) |
T38A |
possibly damaging |
Het |
| Olfr748 |
A |
G |
14: 50,710,779 (GRCm38) |
I150V |
probably benign |
Het |
| Otud4 |
A |
T |
8: 79,672,892 (GRCm38) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,115,568 (GRCm38) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 32,021,830 (GRCm38) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,639,000 (GRCm38) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,728,111 (GRCm38) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,717,849 (GRCm38) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,668,893 (GRCm38) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,478,668 (GRCm38) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,057,985 (GRCm38) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 108,064,003 (GRCm38) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 36,947,200 (GRCm38) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,425,938 (GRCm38) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 119,494,289 (GRCm38) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,956,310 (GRCm38) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,718,908 (GRCm38) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,008,218 (GRCm38) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,530,731 (GRCm38) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,472,488 (GRCm38) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,773,414 (GRCm38) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,777,190 (GRCm38) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,362,357 (GRCm38) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,651,864 (GRCm38) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,455,113 (GRCm38) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,069,754 (GRCm38) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,641,667 (GRCm38) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,071,033 (GRCm38) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,236,922 (GRCm38) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,901,241 (GRCm38) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,600,980 (GRCm38) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,979,577 (GRCm38) |
D686G |
possibly damaging |
Het |
|
| Other mutations in Diaph1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Diaph1
|
APN |
18 |
37,893,348 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01432:Diaph1
|
APN |
18 |
37,897,504 (GRCm38) |
missense |
unknown |
|
|
IGL01646:Diaph1
|
APN |
18 |
37,893,416 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01676:Diaph1
|
APN |
18 |
37,856,188 (GRCm38) |
nonsense |
probably null |
|
|
IGL01731:Diaph1
|
APN |
18 |
37,853,709 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
IGL01921:Diaph1
|
APN |
18 |
37,856,208 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02200:Diaph1
|
APN |
18 |
37,890,682 (GRCm38) |
missense |
unknown |
|
|
IGL02258:Diaph1
|
APN |
18 |
37,853,330 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02325:Diaph1
|
APN |
18 |
37,853,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03304:Diaph1
|
APN |
18 |
37,854,573 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
albatross
|
UTSW |
18 |
37,853,679 (GRCm38) |
nonsense |
probably null |
|
|
cucamonga
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
damselfly
|
UTSW |
18 |
37,897,550 (GRCm38) |
nonsense |
probably null |
|
|
devastator
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
fishnets
|
UTSW |
18 |
37,895,300 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Guangzhou
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
saran
|
UTSW |
18 |
37,855,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
seethrough
|
UTSW |
18 |
37,889,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
sheer
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0137:Diaph1
|
UTSW |
18 |
37,891,849 (GRCm38) |
missense |
unknown |
|
|
R0446:Diaph1
|
UTSW |
18 |
37,853,590 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0523:Diaph1
|
UTSW |
18 |
37,856,500 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1433:Diaph1
|
UTSW |
18 |
37,905,134 (GRCm38) |
missense |
unknown |
|
|
R1532:Diaph1
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1534:Diaph1
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1535:Diaph1
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1536:Diaph1
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1537:Diaph1
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1611:Diaph1
|
UTSW |
18 |
37,900,702 (GRCm38) |
missense |
unknown |
|
|
R1756:Diaph1
|
UTSW |
18 |
37,854,573 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1771:Diaph1
|
UTSW |
18 |
37,891,018 (GRCm38) |
missense |
unknown |
|
|
R1812:Diaph1
|
UTSW |
18 |
37,891,018 (GRCm38) |
missense |
unknown |
|
|
R2121:Diaph1
|
UTSW |
18 |
37,896,389 (GRCm38) |
missense |
unknown |
|
|
R3710:Diaph1
|
UTSW |
18 |
37,845,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3891:Diaph1
|
UTSW |
18 |
37,900,638 (GRCm38) |
splice site |
probably benign |
|
|
R3892:Diaph1
|
UTSW |
18 |
37,900,638 (GRCm38) |
splice site |
probably benign |
|
|
R4077:Diaph1
|
UTSW |
18 |
37,853,583 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4079:Diaph1
|
UTSW |
18 |
37,853,583 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R4771:Diaph1
|
UTSW |
18 |
37,853,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4815:Diaph1
|
UTSW |
18 |
37,895,203 (GRCm38) |
missense |
unknown |
|
|
R5242:Diaph1
|
UTSW |
18 |
37,851,635 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5294:Diaph1
|
UTSW |
18 |
37,897,550 (GRCm38) |
nonsense |
probably null |
|
|
R5349:Diaph1
|
UTSW |
18 |
37,891,072 (GRCm38) |
missense |
unknown |
|
|
R5427:Diaph1
|
UTSW |
18 |
37,890,595 (GRCm38) |
missense |
unknown |
|
|
R5623:Diaph1
|
UTSW |
18 |
37,896,093 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R5677:Diaph1
|
UTSW |
18 |
37,855,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5730:Diaph1
|
UTSW |
18 |
37,903,776 (GRCm38) |
missense |
unknown |
|
|
R5767:Diaph1
|
UTSW |
18 |
37,853,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5925:Diaph1
|
UTSW |
18 |
37,891,935 (GRCm38) |
missense |
unknown |
|
|
R6151:Diaph1
|
UTSW |
18 |
37,853,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6823:Diaph1
|
UTSW |
18 |
37,876,383 (GRCm38) |
splice site |
probably null |
|
|
R6876:Diaph1
|
UTSW |
18 |
37,896,373 (GRCm38) |
missense |
unknown |
|
|
R6925:Diaph1
|
UTSW |
18 |
37,853,679 (GRCm38) |
nonsense |
probably null |
|
|
R6983:Diaph1
|
UTSW |
18 |
37,889,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7073:Diaph1
|
UTSW |
18 |
37,889,814 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7248:Diaph1
|
UTSW |
18 |
37,889,776 (GRCm38) |
missense |
probably benign |
0.26 |
|
R7400:Diaph1
|
UTSW |
18 |
37,854,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7497:Diaph1
|
UTSW |
18 |
37,895,300 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7544:Diaph1
|
UTSW |
18 |
37,893,269 (GRCm38) |
splice site |
probably null |
|
|
R7703:Diaph1
|
UTSW |
18 |
37,890,809 (GRCm38) |
missense |
unknown |
|
|
R7834:Diaph1
|
UTSW |
18 |
37,853,709 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R8073:Diaph1
|
UTSW |
18 |
37,891,797 (GRCm38) |
missense |
unknown |
|
|
R8378:Diaph1
|
UTSW |
18 |
37,891,953 (GRCm38) |
missense |
unknown |
|
|
R8847:Diaph1
|
UTSW |
18 |
37,854,537 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8947:Diaph1
|
UTSW |
18 |
37,853,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8990:Diaph1
|
UTSW |
18 |
37,855,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9059:Diaph1
|
UTSW |
18 |
37,889,745 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9189:Diaph1
|
UTSW |
18 |
37,891,109 (GRCm38) |
missense |
unknown |
|
|
R9297:Diaph1
|
UTSW |
18 |
37,889,775 (GRCm38) |
missense |
probably benign |
0.26 |
|
R9438:Diaph1
|
UTSW |
18 |
37,893,390 (GRCm38) |
missense |
unknown |
|
|
R9439:Diaph1
|
UTSW |
18 |
37,896,359 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9538:Diaph1
|
UTSW |
18 |
37,853,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9596:Diaph1
|
UTSW |
18 |
37,891,058 (GRCm38) |
missense |
unknown |
|
|
R9752:Diaph1
|
UTSW |
18 |
37,903,071 (GRCm38) |
missense |
unknown |
|
|
R9762:Diaph1
|
UTSW |
18 |
37,854,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCATACCACAGAGAAATGAAGG -3'
(R):5'- CCGCATGTCATGTGCATTGG -3'
Sequencing Primer
(F):5'- GACAGGTGAACTCTGGGCTTTC -3'
(R):5'- TCAGATGGTCCTTAAAAAGTCAGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation