Incidental Mutation 'R6823:Diaph1'
| ID |
537778 |
| 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 |
044935-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6823 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
splice site (13315 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 38009436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115634]
|
| AlphaFold |
O08808 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025337
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
| 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 null
Transcript: ENSMUST00000080033
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
| 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 null
Transcript: ENSMUST00000115629
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
| 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 benign
Transcript: ENSMUST00000115634
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (81/83) |
| 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 |
|---|
| Adcy8 |
T |
G |
15: 64,626,735 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,705,200 (GRCm39) |
F1537L |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,501,231 (GRCm39) |
S384G |
probably benign |
Het |
| Anxa8 |
A |
T |
14: 33,816,722 (GRCm39) |
D204V |
possibly damaging |
Het |
| Asap3 |
A |
T |
4: 135,954,883 (GRCm39) |
E71V |
possibly damaging |
Het |
| BC024139 |
T |
C |
15: 76,003,946 (GRCm39) |
*773W |
probably null |
Het |
| Bckdhb |
T |
C |
9: 83,835,814 (GRCm39) |
V106A |
possibly damaging |
Het |
| Cep250 |
A |
G |
2: 155,823,379 (GRCm39) |
D1010G |
probably benign |
Het |
| Chrd |
T |
A |
16: 20,553,486 (GRCm39) |
L243Q |
probably damaging |
Het |
| Cib2 |
G |
T |
9: 54,457,175 (GRCm39) |
L30I |
possibly damaging |
Het |
| Cpsf7 |
T |
A |
19: 10,510,248 (GRCm39) |
L113* |
probably null |
Het |
| Cubn |
T |
A |
2: 13,449,840 (GRCm39) |
I895L |
probably benign |
Het |
| Cyp24a1 |
C |
A |
2: 170,329,899 (GRCm39) |
R351I |
probably benign |
Het |
| Cyp2a12 |
A |
T |
7: 26,733,581 (GRCm39) |
D320V |
possibly damaging |
Het |
| Dact1 |
C |
G |
12: 71,364,713 (GRCm39) |
P498R |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,495,863 (GRCm39) |
I3198N |
probably benign |
Het |
| Dop1b |
A |
T |
16: 93,552,373 (GRCm39) |
I271F |
possibly damaging |
Het |
| Elp1 |
A |
G |
4: 56,787,939 (GRCm39) |
Y331H |
probably damaging |
Het |
| Erich3 |
C |
A |
3: 154,433,074 (GRCm39) |
F349L |
probably damaging |
Het |
| Fam187b |
G |
C |
7: 30,688,715 (GRCm39) |
V358L |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,038,088 (GRCm39) |
H3913Q |
probably benign |
Het |
| Fbxw7 |
G |
C |
3: 84,865,934 (GRCm39) |
E118D |
probably benign |
Het |
| Fgf1 |
A |
G |
18: 38,980,161 (GRCm39) |
I71T |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,222,560 (GRCm39) |
I2007K |
probably damaging |
Het |
| Galnt2 |
C |
G |
8: 125,050,750 (GRCm39) |
P130A |
probably benign |
Het |
| H1f10 |
G |
A |
6: 87,958,284 (GRCm39) |
R19C |
probably damaging |
Het |
| Hmga2 |
A |
C |
10: 120,311,929 (GRCm39) |
S14A |
possibly damaging |
Het |
| Hoxb4 |
C |
T |
11: 96,209,480 (GRCm39) |
|
probably benign |
Het |
| Hr |
A |
T |
14: 70,802,814 (GRCm39) |
I756F |
probably damaging |
Het |
| Hspa1b |
A |
T |
17: 35,177,161 (GRCm39) |
S275T |
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 192,187,597 (GRCm39) |
*99R |
probably null |
Het |
| Kit |
C |
A |
5: 75,813,309 (GRCm39) |
L864I |
probably benign |
Het |
| Klk14 |
A |
T |
7: 43,343,880 (GRCm39) |
K196* |
probably null |
Het |
| Lmod1 |
A |
G |
1: 135,252,905 (GRCm39) |
N53S |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,246,984 (GRCm39) |
M1235T |
probably benign |
Het |
| Neurl3 |
T |
A |
1: 36,307,785 (GRCm39) |
K175* |
probably null |
Het |
| Nlgn2 |
T |
A |
11: 69,716,750 (GRCm39) |
K597M |
probably damaging |
Het |
| Npdc1 |
T |
C |
2: 25,299,121 (GRCm39) |
M306T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,958,769 (GRCm39) |
|
probably null |
Het |
| Or1p1b |
T |
C |
11: 74,130,522 (GRCm39) |
L44P |
probably damaging |
Het |
| Or52m2 |
G |
A |
7: 102,263,693 (GRCm39) |
L168F |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,201 (GRCm39) |
I228T |
possibly damaging |
Het |
| Pbrm1 |
A |
T |
14: 30,806,747 (GRCm39) |
Y1042F |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,921 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Phf12 |
C |
T |
11: 77,913,337 (GRCm39) |
Q430* |
probably null |
Het |
| Plaat5 |
A |
T |
19: 7,616,861 (GRCm39) |
|
probably benign |
Het |
| Pld3 |
C |
T |
7: 27,235,322 (GRCm39) |
R302H |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,471,584 (GRCm39) |
S112P |
probably benign |
Het |
| Pmfbp1 |
T |
A |
8: 110,256,939 (GRCm39) |
S548T |
possibly damaging |
Het |
| Ppa1 |
A |
T |
10: 61,503,382 (GRCm39) |
I220F |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,439,078 (GRCm38) |
|
probably benign |
Het |
| Psmg2 |
A |
T |
18: 67,781,927 (GRCm39) |
E164D |
possibly damaging |
Het |
| Rarb |
T |
C |
14: 16,443,824 (GRCm38) |
R155G |
probably damaging |
Het |
| Rnf215 |
T |
C |
11: 4,086,609 (GRCm39) |
L162S |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rtkn2 |
G |
A |
10: 67,862,462 (GRCm39) |
V330M |
probably damaging |
Het |
| Slc16a4 |
A |
T |
3: 107,218,814 (GRCm39) |
I472F |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,276,435 (GRCm39) |
N617D |
possibly damaging |
Het |
| Spire2 |
T |
C |
8: 124,083,466 (GRCm39) |
V150A |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,064,787 (GRCm39) |
R1904M |
probably damaging |
Het |
| Swap70 |
A |
G |
7: 109,880,510 (GRCm39) |
E575G |
possibly damaging |
Het |
| Tbxas1 |
A |
T |
6: 38,896,087 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,709,872 (GRCm39) |
V1688D |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,297,780 (GRCm39) |
S207T |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,317,282 (GRCm39) |
F248L |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,633,849 (GRCm39) |
L170P |
probably damaging |
Het |
| Tmem63a |
A |
T |
1: 180,788,035 (GRCm39) |
Y263F |
possibly damaging |
Het |
| Tnfsf9 |
C |
A |
17: 57,412,513 (GRCm39) |
L28I |
probably benign |
Het |
| Tph2 |
T |
A |
10: 115,010,011 (GRCm39) |
N183I |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,125,528 (GRCm39) |
I60T |
probably damaging |
Het |
| Ubn1 |
T |
G |
16: 4,882,411 (GRCm39) |
S48A |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 37,989,842 (GRCm39) |
N2019S |
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,977,736 (GRCm39) |
N6D |
probably benign |
Het |
| Wdr59 |
T |
A |
8: 112,185,672 (GRCm39) |
E810V |
possibly damaging |
Het |
| Wiz |
T |
C |
17: 32,579,395 (GRCm39) |
D220G |
probably damaging |
Het |
| Yipf7 |
A |
G |
5: 69,674,413 (GRCm39) |
L244P |
probably damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,790,972 (GRCm39) |
T366A |
possibly damaging |
Het |
| Zfp169 |
A |
T |
13: 48,644,472 (GRCm39) |
|
probably benign |
Het |
| Zfp707 |
C |
T |
15: 75,841,572 (GRCm39) |
|
probably benign |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
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 |
|
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'- CCAAAGCTTAAAAGGCCTGATTG -3'
(R):5'- GCCTACAAACTGTAGTTGGTTAG -3'
Sequencing Primer
(F):5'- AAAGATGTGGTTCATATCACTGTGGC -3'
(R):5'- AACTGTAGTTGGTTAGTAGATGTAGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation