Incidental Mutation 'R7544:Diaph1'
| ID |
585982 |
| 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 |
045616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
splice site (81 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 38026322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
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 null
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 null
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: 99.7%
- 20x: 99.0%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,089,765 (GRCm39) |
V40I |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,095,830 (GRCm39) |
K837E |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,854 (GRCm39) |
S919P |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,431 (GRCm39) |
S530P |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,792,204 (GRCm39) |
E268G |
possibly damaging |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Capn7 |
T |
G |
14: 31,062,007 (GRCm39) |
L40V |
probably damaging |
Het |
| Cd28 |
A |
T |
1: 60,808,859 (GRCm39) |
N191I |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,645,936 (GRCm39) |
T588M |
not run |
Het |
| Csmd1 |
T |
C |
8: 16,142,310 (GRCm39) |
E1531G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,283 (GRCm39) |
D398V |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,262,434 (GRCm39) |
S2901P |
probably damaging |
Het |
| Ddx11 |
G |
A |
17: 66,433,280 (GRCm39) |
G37S |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,392 (GRCm39) |
V49A |
probably benign |
Het |
| Elovl4 |
T |
C |
9: 83,665,271 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,772,422 (GRCm39) |
L679F |
probably benign |
Het |
| Fbf1 |
A |
T |
11: 116,056,659 (GRCm39) |
M17K |
probably benign |
Het |
| Flvcr1 |
C |
A |
1: 190,758,143 (GRCm39) |
G50W |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,382 (GRCm39) |
S1455P |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,716 (GRCm39) |
Y390H |
probably damaging |
Het |
| Gnai3 |
C |
T |
3: 108,025,702 (GRCm39) |
V126M |
|
Het |
| Gpc5 |
T |
C |
14: 115,665,585 (GRCm39) |
F470L |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,195,086 (GRCm39) |
N332S |
probably benign |
Het |
| Gtf3c5 |
T |
A |
2: 28,469,554 (GRCm39) |
I117F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,316,157 (GRCm39) |
S4350C |
probably benign |
Het |
| Kcnh4 |
G |
T |
11: 100,647,906 (GRCm39) |
H152Q |
probably benign |
Het |
| Kcnk12 |
A |
T |
17: 88,053,493 (GRCm39) |
S390T |
possibly damaging |
Het |
| Klra9 |
T |
G |
6: 130,168,183 (GRCm39) |
T28P |
probably benign |
Het |
| Lef1 |
T |
A |
3: 130,988,414 (GRCm39) |
I327N |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,633,129 (GRCm39) |
V185A |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,506,274 (GRCm39) |
E1898G |
probably benign |
Het |
| Lrrc4b |
A |
T |
7: 44,111,975 (GRCm39) |
I616F |
probably damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,463,770 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Mars1 |
T |
C |
10: 127,147,479 (GRCm39) |
E7G |
probably benign |
Het |
| Mpnd |
G |
A |
17: 56,318,666 (GRCm39) |
R225H |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,555,016 (GRCm39) |
M1K |
probably null |
Het |
| Nckap5 |
A |
G |
1: 125,953,948 (GRCm39) |
L868S |
possibly damaging |
Het |
| Ndst1 |
G |
A |
18: 60,830,256 (GRCm39) |
T618M |
probably damaging |
Het |
| Npas1 |
A |
T |
7: 16,194,899 (GRCm39) |
|
probably null |
Het |
| Nr2f2 |
A |
T |
7: 70,004,499 (GRCm39) |
V384D |
probably damaging |
Het |
| Or10a3b |
A |
G |
7: 108,444,528 (GRCm39) |
S230P |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,596 (GRCm39) |
L71P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,705 (GRCm39) |
I79F |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,582,337 (GRCm39) |
F188I |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,776 (GRCm39) |
I320L |
probably benign |
Het |
| Peg10 |
TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC |
T |
6: 4,756,427 (GRCm39) |
|
probably null |
Het |
| Pgpep1 |
C |
T |
8: 71,103,168 (GRCm39) |
G110R |
unknown |
Het |
| Pidd1 |
T |
A |
7: 141,020,252 (GRCm39) |
H558L |
possibly damaging |
Het |
| Ppp1r1a |
C |
T |
15: 103,439,776 (GRCm39) |
|
probably null |
Het |
| Pramel18 |
T |
C |
4: 101,768,599 (GRCm39) |
S317P |
possibly damaging |
Het |
| Pramel51 |
T |
A |
12: 88,142,850 (GRCm39) |
Y451F |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,359,081 (GRCm39) |
D96G |
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,203,899 (GRCm39) |
N154S |
probably benign |
Het |
| Psg17 |
A |
G |
7: 18,553,897 (GRCm39) |
Y118H |
probably benign |
Het |
| Ptpn12 |
A |
G |
5: 21,214,509 (GRCm39) |
I209T |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,181,276 (GRCm39) |
K1835* |
probably null |
Het |
| Sf3b3 |
T |
C |
8: 111,564,915 (GRCm39) |
M298V |
probably benign |
Het |
| Slc5a3 |
T |
A |
16: 91,874,682 (GRCm39) |
N246K |
probably benign |
Het |
| Slmap |
T |
A |
14: 26,151,001 (GRCm39) |
E522D |
probably damaging |
Het |
| Slmap |
C |
T |
14: 26,151,003 (GRCm39) |
E522K |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,581,260 (GRCm39) |
L230Q |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,878,942 (GRCm39) |
|
probably null |
Het |
| Tet3 |
A |
T |
6: 83,381,623 (GRCm39) |
W182R |
probably damaging |
Het |
| Tmem151a |
T |
A |
19: 5,121,895 (GRCm39) |
M35L |
unknown |
Het |
| Tom1l2 |
TTGATGATG |
TTGATG |
11: 60,171,040 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
A |
T |
1: 58,960,227 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
T |
A |
8: 47,975,449 (GRCm39) |
E256D |
possibly damaging |
Het |
| Trim62 |
C |
T |
4: 128,796,346 (GRCm39) |
T281I |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,081,021 (GRCm39) |
E115G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,620,837 (GRCm39) |
T10A |
probably benign |
Het |
| Urah |
A |
T |
7: 140,415,565 (GRCm39) |
H11L |
probably damaging |
Het |
| Usp39 |
G |
A |
6: 72,319,891 (GRCm39) |
T109I |
probably damaging |
Het |
| Wfikkn2 |
T |
C |
11: 94,128,738 (GRCm39) |
T468A |
probably benign |
Het |
| Zfhx4 |
T |
G |
3: 5,477,875 (GRCm39) |
S3497A |
probably damaging |
Het |
| Zfp85 |
C |
T |
13: 67,897,184 (GRCm39) |
R296H |
probably benign |
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 |
|
|
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'- TGGTCTGGTGTCCCAAGAAC -3'
(R):5'- TTGGTACTGAGACTTGACTTACTG -3'
Sequencing Primer
(F):5'- GGTCTGGTGTCCCAAGAACTATAC -3'
(R):5'- ACTGAGACTTGACTTACTGTGTTG -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation