Incidental Mutation 'R0137:Diaph1'
| ID |
22072 |
| 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 |
038422-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0137 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
(trace)
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38024902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 520
(Q520K)
|
| 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: Q529K
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: Q529K
| 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: Q520K
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: Q520K
| 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: Q485K
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: Q485K
| 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: Q485K
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: Q485K
| 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: Q520K
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: Q520K
| 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 |
0.0595 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
95% (94/99) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
T |
8: 120,878,115 (GRCm39) |
H190L |
possibly damaging |
Het |
| Adap1 |
A |
G |
5: 139,278,976 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
C |
T |
5: 50,121,182 (GRCm39) |
|
probably benign |
Het |
| Adgre5 |
A |
T |
8: 84,451,527 (GRCm39) |
V527E |
probably damaging |
Het |
| Anapc5 |
A |
T |
5: 122,938,695 (GRCm39) |
Y360N |
probably damaging |
Het |
| Angptl6 |
C |
A |
9: 20,789,683 (GRCm39) |
A70S |
probably benign |
Het |
| Ankdd1a |
C |
A |
9: 65,417,610 (GRCm39) |
K137N |
probably null |
Het |
| Ccdc170 |
T |
C |
10: 4,496,950 (GRCm39) |
|
probably benign |
Het |
| Ccdc51 |
A |
G |
9: 108,920,698 (GRCm39) |
E195G |
probably damaging |
Het |
| Cdc37 |
A |
T |
9: 21,053,426 (GRCm39) |
C204S |
possibly damaging |
Het |
| Cfap36 |
T |
C |
11: 29,172,431 (GRCm39) |
|
probably benign |
Het |
| Col6a2 |
C |
A |
10: 76,432,259 (GRCm39) |
G965C |
probably damaging |
Het |
| Csn1s2a |
G |
A |
5: 87,926,826 (GRCm39) |
S53N |
possibly damaging |
Het |
| Dab2ip |
T |
C |
2: 35,582,388 (GRCm39) |
|
probably null |
Het |
| Dhx58 |
A |
G |
11: 100,587,823 (GRCm39) |
V578A |
probably damaging |
Het |
| Eefsec |
C |
A |
6: 88,274,631 (GRCm39) |
K444N |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,759,443 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Eif5b |
T |
G |
1: 38,058,324 (GRCm39) |
S209A |
probably benign |
Het |
| Exosc2 |
T |
A |
2: 31,562,497 (GRCm39) |
Y46N |
probably damaging |
Het |
| F2 |
C |
T |
2: 91,456,075 (GRCm39) |
G562D |
probably damaging |
Het |
| Fgf23 |
G |
A |
6: 127,057,128 (GRCm39) |
G148D |
probably damaging |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,614,786 (GRCm39) |
G179R |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,938,644 (GRCm39) |
W246R |
probably damaging |
Het |
| Gart |
T |
A |
16: 91,422,282 (GRCm39) |
Q745L |
probably benign |
Het |
| Gmeb1 |
T |
A |
4: 131,959,419 (GRCm39) |
M212L |
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,218,981 (GRCm39) |
Y548H |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,986,667 (GRCm39) |
E763G |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,762,389 (GRCm39) |
I279F |
probably damaging |
Het |
| Hcls1 |
T |
A |
16: 36,771,536 (GRCm39) |
H147Q |
probably damaging |
Het |
| Hpcal1 |
A |
C |
12: 17,836,389 (GRCm39) |
D73A |
probably damaging |
Het |
| Il22ra1 |
T |
C |
4: 135,478,317 (GRCm39) |
S463P |
probably benign |
Het |
| Itgbl1 |
G |
A |
14: 124,078,098 (GRCm39) |
|
probably null |
Het |
| Izumo3 |
G |
T |
4: 92,035,437 (GRCm39) |
|
probably benign |
Het |
| Kcna5 |
A |
T |
6: 126,510,346 (GRCm39) |
L594Q |
probably damaging |
Het |
| Kif13a |
A |
T |
13: 46,918,079 (GRCm39) |
D409E |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,314,106 (GRCm39) |
I39F |
probably damaging |
Het |
| Klri2 |
C |
T |
6: 129,709,171 (GRCm39) |
R227H |
possibly damaging |
Het |
| Lamc3 |
G |
A |
2: 31,798,628 (GRCm39) |
G445S |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,024,980 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,325,327 (GRCm39) |
L1384P |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,439,526 (GRCm39) |
S549L |
possibly damaging |
Het |
| Ms4a15 |
G |
A |
19: 10,956,697 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
C |
4: 148,555,081 (GRCm39) |
V901A |
possibly damaging |
Het |
| Nckap1l |
A |
T |
15: 103,390,391 (GRCm39) |
I721F |
probably benign |
Het |
| Nemp2 |
T |
C |
1: 52,684,588 (GRCm39) |
V298A |
probably benign |
Het |
| Npc1l1 |
T |
A |
11: 6,178,148 (GRCm39) |
K421* |
probably null |
Het |
| Npr1 |
C |
T |
3: 90,363,244 (GRCm39) |
V879M |
probably damaging |
Het |
| Odad4 |
A |
G |
11: 100,454,394 (GRCm39) |
E393G |
probably damaging |
Het |
| Or2ad1 |
A |
G |
13: 21,326,336 (GRCm39) |
V297A |
possibly damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,709 (GRCm39) |
T82A |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,169,219 (GRCm39) |
I39F |
possibly damaging |
Het |
| Phip |
G |
C |
9: 82,809,244 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,705,768 (GRCm39) |
P56Q |
possibly damaging |
Het |
| Plcxd2 |
A |
G |
16: 45,800,889 (GRCm39) |
Y112H |
probably damaging |
Het |
| Plekha1 |
C |
T |
7: 130,499,176 (GRCm39) |
T155M |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,558,196 (GRCm39) |
|
probably null |
Het |
| Prss1 |
A |
G |
6: 41,439,495 (GRCm39) |
H76R |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,348,558 (GRCm39) |
D83G |
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,055,140 (GRCm39) |
Q196L |
probably benign |
Het |
| Ranbp3l |
A |
T |
15: 9,063,067 (GRCm39) |
H292L |
probably damaging |
Het |
| Ranbp6 |
T |
C |
19: 29,787,097 (GRCm39) |
E1085G |
probably benign |
Het |
| Rccd1 |
A |
G |
7: 79,970,326 (GRCm39) |
V97A |
possibly damaging |
Het |
| Rchy1 |
T |
C |
5: 92,105,458 (GRCm39) |
S48G |
probably benign |
Het |
| Rnmt |
G |
A |
18: 68,446,771 (GRCm39) |
M265I |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,336,640 (GRCm39) |
M376K |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,862,289 (GRCm39) |
D898G |
probably benign |
Het |
| Scg3 |
A |
T |
9: 75,570,462 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
A |
T |
19: 44,522,821 (GRCm39) |
M57K |
probably damaging |
Het |
| Slc17a6 |
A |
C |
7: 51,315,892 (GRCm39) |
I387L |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,240,982 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,470,260 (GRCm39) |
D146G |
possibly damaging |
Het |
| Ss18 |
A |
G |
18: 14,788,200 (GRCm39) |
M90T |
probably damaging |
Het |
| Syna |
A |
T |
5: 134,588,314 (GRCm39) |
F212I |
possibly damaging |
Het |
| Tex54 |
A |
G |
19: 8,718,221 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,055 (GRCm39) |
H34R |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,547,086 (GRCm39) |
I84T |
probably benign |
Het |
| Trim50 |
T |
C |
5: 135,395,487 (GRCm39) |
V281A |
probably damaging |
Het |
| Trp53i11 |
C |
A |
2: 93,029,696 (GRCm39) |
|
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,718,851 (GRCm39) |
T234I |
possibly damaging |
Het |
| Ttyh1 |
A |
T |
7: 4,127,719 (GRCm39) |
I136F |
possibly damaging |
Het |
| Ube2f |
T |
C |
1: 91,189,976 (GRCm39) |
|
probably benign |
Het |
| Vcl |
T |
A |
14: 21,037,083 (GRCm39) |
L227* |
probably null |
Het |
| Vmn1r222 |
A |
C |
13: 23,416,974 (GRCm39) |
C80G |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,926,365 (GRCm39) |
A3889S |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,323,136 (GRCm39) |
|
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,978,006 (GRCm39) |
Y422C |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,805,158 (GRCm39) |
S526G |
possibly damaging |
Het |
| Zfp518a |
A |
C |
19: 40,904,310 (GRCm39) |
E1413A |
probably damaging |
Het |
| Zfp629 |
T |
A |
7: 127,210,858 (GRCm39) |
Y317F |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
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 |
|
|
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 |
|
|
R9762:Diaph1
|
UTSW |
18 |
37,987,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAGGAGCCAAGAACAGTGTAGCC -3'
(R):5'- AGAGCAGCCTTGCTGTGATCAAC -3'
Sequencing Primer
(F):5'- ACAGTGTAGCCGCATGG -3'
(R):5'- tgctgcttactgtctcttcc -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation