Incidental Mutation 'R0523:Diaph1'
| ID |
48755 |
| 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 |
038716-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0523 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37989553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 860
(V860I)
|
| 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 |
probably benign
Transcript: ENSMUST00000025337
AA Change: V869I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: V869I
| 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 benign
Transcript: ENSMUST00000080033
AA Change: V860I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: V860I
| 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 benign
Transcript: ENSMUST00000115629
AA Change: V825I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: V825I
| 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 benign
Transcript: ENSMUST00000115631
AA Change: V825I
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: V825I
| 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: V860I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: V860I
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.7%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,289 (GRCm39) |
D807G |
possibly damaging |
Het |
| Actl9 |
T |
A |
17: 33,652,323 (GRCm39) |
W128R |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,492,924 (GRCm39) |
I562V |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,715,200 (GRCm39) |
E79D |
probably benign |
Het |
| Apobec1 |
T |
A |
6: 122,558,504 (GRCm39) |
I84F |
probably damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,562,637 (GRCm39) |
F458L |
possibly damaging |
Het |
| Bco2 |
A |
T |
9: 50,445,926 (GRCm39) |
V490E |
probably damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,884,615 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
T |
C |
9: 21,054,292 (GRCm39) |
K111R |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,744,745 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
G |
A |
16: 38,148,736 (GRCm39) |
P231S |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,223,870 (GRCm39) |
Y878N |
probably damaging |
Het |
| Cpox |
T |
A |
16: 58,495,608 (GRCm39) |
C308* |
probably null |
Het |
| Cracdl |
A |
T |
1: 37,683,710 (GRCm39) |
M1K |
probably null |
Het |
| Ctnna3 |
T |
G |
10: 64,511,688 (GRCm39) |
M626R |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,727,873 (GRCm39) |
E93G |
probably benign |
Het |
| Cyp2s1 |
G |
A |
7: 25,505,475 (GRCm39) |
R330W |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,668,750 (GRCm39) |
S1311P |
probably damaging |
Het |
| Dpyd |
G |
A |
3: 118,692,852 (GRCm39) |
R332K |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,719,716 (GRCm39) |
R416H |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,005 (GRCm39) |
D218G |
probably benign |
Het |
| Eif2ak1 |
T |
C |
5: 143,818,984 (GRCm39) |
V215A |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,272,577 (GRCm39) |
|
probably null |
Het |
| Fcrl5 |
T |
C |
3: 87,365,099 (GRCm39) |
S583P |
possibly damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,392 (GRCm39) |
S246P |
possibly damaging |
Het |
| Grid2ip |
C |
A |
5: 143,358,798 (GRCm39) |
Q29K |
possibly damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,262 (GRCm39) |
N343K |
probably damaging |
Het |
| Hvcn1 |
T |
C |
5: 122,354,428 (GRCm39) |
|
probably null |
Het |
| Igf2r |
T |
C |
17: 12,910,951 (GRCm39) |
I1956V |
probably benign |
Het |
| Impdh2 |
A |
T |
9: 108,439,018 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
C |
T |
9: 108,439,019 (GRCm39) |
T96I |
possibly damaging |
Het |
| Lactb |
C |
G |
9: 66,877,974 (GRCm39) |
G285A |
probably benign |
Het |
| Lrrc43 |
T |
C |
5: 123,639,305 (GRCm39) |
S445P |
probably damaging |
Het |
| Mapk12 |
T |
G |
15: 89,019,848 (GRCm39) |
M120L |
probably benign |
Het |
| Mroh8 |
C |
G |
2: 157,065,956 (GRCm39) |
A669P |
probably damaging |
Het |
| Mrpl38 |
A |
C |
11: 116,022,844 (GRCm39) |
H373Q |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,071,728 (GRCm39) |
V740A |
probably damaging |
Het |
| Naprt |
A |
G |
15: 75,764,314 (GRCm39) |
F300S |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,258,531 (GRCm39) |
I271T |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,701,995 (GRCm39) |
T582A |
probably benign |
Het |
| Notch2 |
C |
T |
3: 97,978,286 (GRCm39) |
T89I |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,018,914 (GRCm39) |
R692H |
probably benign |
Het |
| Nt5c3 |
A |
T |
6: 56,860,666 (GRCm39) |
N296K |
probably damaging |
Het |
| Nt5c3b |
T |
A |
11: 100,327,036 (GRCm39) |
I87F |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,904,209 (GRCm39) |
Q555R |
unknown |
Het |
| Or2ag17 |
A |
G |
7: 106,389,533 (GRCm39) |
V225A |
probably damaging |
Het |
| Or5p69 |
A |
T |
7: 107,967,438 (GRCm39) |
H247L |
probably damaging |
Het |
| Or9g19 |
T |
A |
2: 85,600,273 (GRCm39) |
S43T |
probably benign |
Het |
| P3h1 |
C |
A |
4: 119,098,727 (GRCm39) |
Q410K |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,172,078 (GRCm39) |
V44A |
possibly damaging |
Het |
| Pde1c |
T |
A |
6: 56,151,926 (GRCm39) |
L252F |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,024,529 (GRCm39) |
T497S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,155,552 (GRCm39) |
T253A |
probably damaging |
Het |
| Pipox |
T |
C |
11: 77,782,965 (GRCm39) |
E79G |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,451,459 (GRCm39) |
M829I |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,492,771 (GRCm39) |
L156Q |
probably damaging |
Het |
| Psme2b |
T |
G |
11: 48,836,609 (GRCm39) |
T113P |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,416,081 (GRCm39) |
I1739T |
possibly damaging |
Het |
| Qser1 |
T |
C |
2: 104,620,021 (GRCm39) |
T174A |
probably damaging |
Het |
| Rcor3 |
T |
G |
1: 191,814,736 (GRCm39) |
D81A |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,724,045 (GRCm39) |
V785A |
probably benign |
Het |
| Rnf11 |
T |
C |
4: 109,314,119 (GRCm39) |
D90G |
probably benign |
Het |
| Sh3tc1 |
GCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCC |
5: 35,881,410 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
T |
A |
18: 76,395,623 (GRCm39) |
S21T |
probably benign |
Het |
| Smc4 |
A |
G |
3: 68,933,221 (GRCm39) |
D639G |
probably damaging |
Het |
| Smtn |
A |
T |
11: 3,474,664 (GRCm39) |
S716T |
possibly damaging |
Het |
| Smug1 |
G |
T |
15: 103,064,136 (GRCm39) |
Q262K |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,428,794 (GRCm39) |
G403V |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,414 (GRCm39) |
F132L |
possibly damaging |
Het |
| Tgm3 |
T |
C |
2: 129,886,582 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
C |
T |
6: 59,187,358 (GRCm39) |
T75M |
probably benign |
Het |
| Tnfrsf13b |
T |
C |
11: 61,038,413 (GRCm39) |
V232A |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,998,716 (GRCm39) |
L301S |
probably damaging |
Het |
| Trim75 |
G |
A |
8: 65,436,442 (GRCm39) |
H3Y |
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
| Tsbp1 |
G |
T |
17: 34,664,473 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
G |
C |
8: 79,003,466 (GRCm39) |
L227F |
probably benign |
Het |
| Ttc39d |
G |
A |
17: 80,523,886 (GRCm39) |
D182N |
possibly damaging |
Het |
| Ttll10 |
T |
A |
4: 156,129,818 (GRCm39) |
R164* |
probably null |
Het |
| Ufsp2 |
T |
A |
8: 46,449,780 (GRCm39) |
D447E |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,399,691 (GRCm39) |
L272F |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,472,196 (GRCm39) |
V833A |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,989,165 (GRCm39) |
T308A |
probably benign |
Het |
| Zfp933 |
G |
A |
4: 147,910,919 (GRCm39) |
Q226* |
probably null |
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 |
|
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 |
|
|
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'- ACTCAGCCAGATCATCGTACTCCTC -3'
(R):5'- AGTTCCAGCTCTGAACTCAGGCTC -3'
Sequencing Primer
(F):5'- GCCTGAGCATCATCATGACTG -3'
(R):5'- CGGATTTGGCTCGGATTTCAAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation