Incidental Mutation 'R9762:Diaph1'
| ID |
733115 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9762 (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 A
at 37987589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 1056
(V1056F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
| AlphaFold |
O08808 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025337
AA Change: V1065F
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: V1065F
| 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: V1056F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: V1056F
| 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: V1021F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: V1021F
| 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: V1021F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: V1021F
| 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: V1056F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: V1056F
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
T |
19: 57,025,691 (GRCm39) |
R851S |
probably damaging |
Het |
| Acap2 |
C |
A |
16: 30,929,763 (GRCm39) |
A407S |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,635 (GRCm39) |
S618R |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,180,896 (GRCm39) |
Y89C |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,588,021 (GRCm39) |
S364T |
probably damaging |
Het |
| Ankfy1 |
A |
G |
11: 72,621,401 (GRCm39) |
E229G |
probably benign |
Het |
| Arhgap27 |
G |
T |
11: 103,251,511 (GRCm39) |
D72E |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,230,950 (GRCm39) |
E191G |
probably null |
Het |
| Atp6v0a1 |
C |
T |
11: 100,946,427 (GRCm39) |
H807Y |
possibly damaging |
Het |
| Ccdc113 |
A |
C |
8: 96,272,605 (GRCm39) |
E237D |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,420 (GRCm39) |
I25K |
probably benign |
Het |
| Cd300c2 |
A |
G |
11: 114,887,775 (GRCm39) |
V209A |
probably damaging |
Het |
| Cdkn2d |
T |
A |
9: 21,200,383 (GRCm39) |
E129D |
probably benign |
Het |
| Cfap251 |
A |
G |
5: 123,460,533 (GRCm39) |
Y1165C |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,712,741 (GRCm39) |
N855Y |
unknown |
Het |
| Cntn3 |
A |
G |
6: 102,254,196 (GRCm39) |
C249R |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,527,266 (GRCm39) |
E2688G |
possibly damaging |
Het |
| Copb2 |
C |
T |
9: 98,464,901 (GRCm39) |
T612I |
probably benign |
Het |
| Cplx1 |
A |
T |
5: 108,673,378 (GRCm39) |
D29E |
possibly damaging |
Het |
| Cracd |
A |
G |
5: 77,006,555 (GRCm39) |
K972R |
unknown |
Het |
| Cstf3 |
A |
T |
2: 104,494,684 (GRCm39) |
R645* |
probably null |
Het |
| Ctdp1 |
A |
T |
18: 80,492,550 (GRCm39) |
Y648* |
probably null |
Het |
| Daam1 |
T |
A |
12: 71,990,855 (GRCm39) |
D156E |
unknown |
Het |
| Dbn1 |
G |
A |
13: 55,622,824 (GRCm39) |
P599L |
probably damaging |
Het |
| Dzip3 |
A |
T |
16: 48,748,707 (GRCm39) |
D870E |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,331 (GRCm39) |
T231A |
possibly damaging |
Het |
| Efl1 |
A |
C |
7: 82,412,596 (GRCm39) |
D995A |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,842,393 (GRCm39) |
T1284A |
possibly damaging |
Het |
| Fbxo33 |
T |
C |
12: 59,251,708 (GRCm39) |
E269G |
probably benign |
Het |
| Foxj3 |
T |
A |
4: 119,483,540 (GRCm39) |
M604K |
unknown |
Het |
| Gabra4 |
A |
G |
5: 71,814,463 (GRCm39) |
S86P |
unknown |
Het |
| Gnas |
G |
A |
2: 174,140,639 (GRCm39) |
W269* |
probably null |
Het |
| Gpc6 |
T |
G |
14: 118,202,258 (GRCm39) |
N489K |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,236 (GRCm39) |
K357R |
possibly damaging |
Het |
| Grip1 |
G |
T |
10: 119,811,906 (GRCm39) |
A286S |
possibly damaging |
Het |
| Grm4 |
A |
T |
17: 27,721,688 (GRCm39) |
V151E |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,942,065 (GRCm39) |
S565T |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,525,014 (GRCm39) |
V260A |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,486,940 (GRCm39) |
I139T |
probably damaging |
Het |
| Hspa4l |
T |
C |
3: 40,727,057 (GRCm39) |
I486T |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,317,866 (GRCm39) |
Y120C |
probably damaging |
Het |
| Iglv2 |
C |
T |
16: 19,079,548 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,237,106 (GRCm39) |
L1025H |
probably damaging |
Het |
| Itpkb |
A |
G |
1: 180,161,752 (GRCm39) |
N626S |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Klc3 |
C |
T |
7: 19,132,023 (GRCm39) |
W118* |
probably null |
Het |
| Klhl25 |
C |
T |
7: 75,516,741 (GRCm39) |
T549I |
probably damaging |
Het |
| Krtap6-2 |
T |
A |
16: 89,216,763 (GRCm39) |
Y68F |
unknown |
Het |
| Mtcl1 |
T |
C |
17: 66,673,347 (GRCm39) |
N1121D |
probably benign |
Het |
| Ncbp3 |
A |
G |
11: 72,961,668 (GRCm39) |
K314R |
probably benign |
Het |
| Nop2 |
T |
C |
6: 125,121,272 (GRCm39) |
W685R |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,447,874 (GRCm39) |
D40E |
probably benign |
Het |
| Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,960,815 (GRCm39) |
S224P |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 80,944,792 (GRCm39) |
R17G |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,424,358 (GRCm39) |
L321* |
probably null |
Het |
| Pnp2 |
T |
C |
14: 51,197,006 (GRCm39) |
W31R |
probably damaging |
Het |
| Prr12 |
T |
C |
7: 44,696,954 (GRCm39) |
Y987C |
unknown |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Prss23 |
T |
C |
7: 89,159,683 (GRCm39) |
I129V |
probably damaging |
Het |
| Rhno1 |
T |
C |
6: 128,336,119 (GRCm39) |
T39A |
probably damaging |
Het |
| Rps2 |
A |
T |
17: 24,940,810 (GRCm39) |
R279* |
probably null |
Het |
| Ski |
T |
C |
4: 155,244,344 (GRCm39) |
K427R |
probably damaging |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
C |
T |
4: 14,546,372 (GRCm39) |
G319D |
probably damaging |
Het |
| Slc7a6os |
A |
G |
8: 106,937,523 (GRCm39) |
V8A |
probably damaging |
Het |
| Smim8 |
A |
C |
4: 34,771,265 (GRCm39) |
I43S |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,819,842 (GRCm39) |
K400R |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,032,943 (GRCm39) |
V76M |
probably damaging |
Het |
| Taf2 |
A |
C |
15: 54,894,440 (GRCm39) |
|
probably null |
Het |
| Taf5 |
G |
A |
19: 47,059,434 (GRCm39) |
V193M |
probably damaging |
Het |
| Tm2d1 |
A |
T |
4: 98,246,261 (GRCm39) |
S180R |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,368,166 (GRCm39) |
F287S |
probably damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,473,185 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,839,497 (GRCm39) |
V1537A |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,900 (GRCm39) |
L70P |
probably damaging |
Het |
| Vps26a |
A |
T |
10: 62,316,433 (GRCm39) |
N51K |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,990,749 (GRCm39) |
T173S |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,706,239 (GRCm39) |
C279R |
probably damaging |
Het |
| Zfp65 |
T |
A |
13: 67,856,478 (GRCm39) |
H267L |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGACTGCAGCTTATCTGTAAG -3'
(R):5'- TGAGTCAGGAGGTTCACAGG -3'
Sequencing Primer
(F):5'- GACTGCAGCTTATCTGTAAGGTTTAC -3'
(R):5'- AGGTTCACAGGCTCGAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation