Incidental Mutation 'R1756:Diaph1'
| ID |
194910 |
| 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 |
039788-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1756 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37987626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1043
(D1043E)
|
| 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: D1052E
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025337
Gene: ENSMUSG00000024456
AA Change: D1052E
| 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: D1043E
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000078942
Gene: ENSMUSG00000024456
AA Change: D1043E
| 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: D1008E
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111292
Gene: ENSMUSG00000024456
AA Change: D1008E
| 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: D1008E
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111294
Gene: ENSMUSG00000024456
AA Change: D1008E
| 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: D1043E
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111297
Gene: ENSMUSG00000024456
AA Change: D1043E
| 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
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 93.0%
|
| Validation Efficiency |
100% (96/96) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330008L17Rik |
C |
A |
8: 100,148,514 (GRCm39) |
|
noncoding transcript |
Het |
| Acin1 |
A |
G |
14: 54,902,661 (GRCm39) |
V377A |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,361 (GRCm39) |
I251F |
probably damaging |
Het |
| Adnp2 |
A |
T |
18: 80,170,912 (GRCm39) |
*1166K |
probably null |
Het |
| Akap12 |
T |
A |
10: 4,307,574 (GRCm39) |
D1461E |
probably benign |
Het |
| Aopep |
T |
A |
13: 63,215,875 (GRCm39) |
H382Q |
possibly damaging |
Het |
| Apba1 |
A |
G |
19: 23,871,056 (GRCm39) |
D296G |
possibly damaging |
Het |
| Apol7a |
G |
T |
15: 77,277,671 (GRCm39) |
L26M |
possibly damaging |
Het |
| Bcl2 |
C |
T |
1: 106,640,122 (GRCm39) |
M163I |
probably damaging |
Het |
| Cap2 |
T |
G |
13: 46,684,489 (GRCm39) |
I53R |
probably benign |
Het |
| Ccdc74a |
T |
C |
16: 17,468,332 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ccnb2 |
A |
G |
9: 70,318,070 (GRCm39) |
V234A |
probably benign |
Het |
| Cd207 |
C |
T |
6: 83,652,579 (GRCm39) |
V184I |
probably benign |
Het |
| Cdk12 |
C |
A |
11: 98,132,587 (GRCm39) |
C1005* |
probably null |
Het |
| Cep83 |
T |
C |
10: 94,586,129 (GRCm39) |
S344P |
probably damaging |
Het |
| Ces1g |
A |
T |
8: 94,033,582 (GRCm39) |
Y447N |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,883,923 (GRCm39) |
L277Q |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,028,615 (GRCm39) |
Y1027H |
probably damaging |
Het |
| Clcnkb |
T |
A |
4: 141,142,525 (GRCm39) |
I28F |
possibly damaging |
Het |
| Clec4d |
A |
G |
6: 123,244,068 (GRCm39) |
D59G |
probably damaging |
Het |
| Colq |
G |
A |
14: 31,269,409 (GRCm39) |
P153S |
probably damaging |
Het |
| Crybg1 |
T |
A |
10: 43,862,275 (GRCm39) |
T1500S |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,501,725 (GRCm39) |
R262W |
probably damaging |
Het |
| Dennd4b |
C |
G |
3: 90,178,912 (GRCm39) |
L559V |
probably damaging |
Het |
| Dhrs1 |
A |
G |
14: 55,976,766 (GRCm39) |
V306A |
probably benign |
Het |
| Dis3 |
G |
T |
14: 99,323,539 (GRCm39) |
D538E |
probably damaging |
Het |
| Dnai2 |
T |
G |
11: 114,641,206 (GRCm39) |
S344A |
probably benign |
Het |
| Dner |
C |
T |
1: 84,423,311 (GRCm39) |
V431M |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
| Eps15 |
T |
G |
4: 109,170,115 (GRCm39) |
L139* |
probably null |
Het |
| Fam193a |
T |
A |
5: 34,623,636 (GRCm39) |
I55N |
possibly damaging |
Het |
| Gm10308 |
T |
A |
17: 91,396,385 (GRCm39) |
Y102* |
probably null |
Het |
| Gm10509 |
A |
G |
17: 21,909,762 (GRCm39) |
K30E |
possibly damaging |
Het |
| Gpr155 |
T |
C |
2: 73,197,921 (GRCm39) |
M400V |
probably benign |
Het |
| H2-M10.2 |
T |
C |
17: 36,597,015 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,411,341 (GRCm39) |
A61S |
probably benign |
Het |
| Helb |
G |
T |
10: 119,930,147 (GRCm39) |
T744K |
probably damaging |
Het |
| Hmcn1 |
C |
A |
1: 150,474,781 (GRCm39) |
W4702L |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,286,132 (GRCm39) |
R2095W |
probably damaging |
Het |
| Igfbp3 |
G |
C |
11: 7,158,461 (GRCm39) |
D267E |
probably damaging |
Het |
| Ighmbp2 |
T |
A |
19: 3,318,669 (GRCm39) |
H469L |
probably damaging |
Het |
| Kcnj3 |
A |
C |
2: 55,327,232 (GRCm39) |
K7T |
probably damaging |
Het |
| Krtap5-5 |
T |
G |
7: 141,783,358 (GRCm39) |
K97N |
unknown |
Het |
| Lcor |
T |
C |
19: 41,547,705 (GRCm39) |
S430P |
probably benign |
Het |
| Lpin1 |
A |
G |
12: 16,588,541 (GRCm39) |
V883A |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,837 (GRCm39) |
Y2243C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,925,556 (GRCm39) |
|
probably benign |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mpdz |
C |
T |
4: 81,225,114 (GRCm39) |
V1438M |
possibly damaging |
Het |
| Muc21 |
A |
T |
17: 35,930,131 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,169,131 (GRCm39) |
L635* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,368,035 (GRCm39) |
N1202D |
possibly damaging |
Het |
| Nphs1 |
A |
G |
7: 30,160,959 (GRCm39) |
D196G |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or2b2b |
A |
G |
13: 21,858,865 (GRCm39) |
I83T |
probably benign |
Het |
| Or8b42 |
A |
T |
9: 38,342,291 (GRCm39) |
I238F |
probably benign |
Het |
| Or8k16 |
A |
G |
2: 85,520,427 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,325,833 (GRCm39) |
N350K |
probably damaging |
Het |
| Pik3cd |
T |
C |
4: 149,743,207 (GRCm39) |
K298E |
probably benign |
Het |
| Pkd1 |
C |
T |
17: 24,813,459 (GRCm39) |
R4000C |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,516,488 (GRCm39) |
V546D |
possibly damaging |
Het |
| Plcg2 |
A |
G |
8: 118,319,447 (GRCm39) |
K673E |
probably benign |
Het |
| Pld4 |
T |
G |
12: 112,729,826 (GRCm39) |
|
probably null |
Het |
| Plek |
A |
T |
11: 16,942,901 (GRCm39) |
N130K |
probably damaging |
Het |
| Prune2 |
G |
A |
19: 17,101,068 (GRCm39) |
D2191N |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,048,723 (GRCm39) |
Y431C |
probably damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,498,092 (GRCm39) |
S36G |
probably benign |
Het |
| Rtn4ip1 |
C |
T |
10: 43,786,826 (GRCm39) |
A178V |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,578,188 (GRCm39) |
S168P |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,624,590 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,987,984 (GRCm39) |
M574I |
probably benign |
Het |
| Slk |
T |
C |
19: 47,611,116 (GRCm39) |
F861L |
probably damaging |
Het |
| Smpd3 |
C |
A |
8: 106,991,603 (GRCm39) |
A317S |
probably benign |
Het |
| Spopfm1 |
A |
T |
3: 94,173,525 (GRCm39) |
M174L |
probably benign |
Het |
| Spz1 |
T |
A |
13: 92,711,633 (GRCm39) |
Q281L |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,422,814 (GRCm39) |
R519S |
probably benign |
Het |
| Taf4 |
T |
C |
2: 179,618,324 (GRCm39) |
H39R |
unknown |
Het |
| Tbx5 |
A |
T |
5: 119,983,178 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
T |
A |
10: 78,583,031 (GRCm39) |
K451M |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Th |
G |
A |
7: 142,451,903 (GRCm39) |
Q19* |
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,568,038 (GRCm39) |
I230F |
probably damaging |
Het |
| Tnfrsf14 |
T |
A |
4: 155,009,779 (GRCm39) |
H50L |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,017,885 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim2 |
A |
G |
3: 84,098,107 (GRCm39) |
I398T |
possibly damaging |
Het |
| Trpc5 |
A |
T |
X: 143,264,222 (GRCm39) |
S212T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,617,678 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,678,407 (GRCm39) |
T2063A |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,518,814 (GRCm39) |
S260T |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,800 (GRCm39) |
S1915P |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,589,282 (GRCm39) |
I91F |
possibly damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,385 (GRCm39) |
T205A |
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 |
|
|
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'- AAGGTGTCTCCGTGACAGCAATG -3'
(R):5'- TTTTACTGCGAGGACCAGAGCCAG -3'
Sequencing Primer
(F):5'- GCAGCTTATCTGTAAGGTTTACTTC -3'
(R):5'- CAGAGCCAGCGTGAGTCAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation