Incidental Mutation 'R7497:Diaph1'
| ID |
581171 |
| 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 |
045570-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37976654-38068529 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 38028353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025337]
[ENSMUST00000025337]
[ENSMUST00000080033]
[ENSMUST00000080033]
[ENSMUST00000115629]
[ENSMUST00000115629]
[ENSMUST00000115631]
[ENSMUST00000115631]
[ENSMUST00000115634]
[ENSMUST00000115634]
|
| AlphaFold |
O08808 |
| 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: 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: 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: 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,075,379 (GRCm39) |
I145F |
probably benign |
Het |
| Acvr2b |
T |
A |
9: 119,262,352 (GRCm39) |
V455E |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Agap2 |
T |
C |
10: 126,926,834 (GRCm39) |
V977A |
probably damaging |
Het |
| Aph1b |
A |
C |
9: 66,701,401 (GRCm39) |
S79A |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,423,191 (GRCm39) |
S645L |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,400,456 (GRCm39) |
R171G |
probably benign |
Het |
| Ces2f |
T |
A |
8: 105,681,330 (GRCm39) |
D556E |
probably benign |
Het |
| Cfap210 |
A |
C |
2: 69,588,792 (GRCm39) |
N439K |
probably benign |
Het |
| Cyp26b1 |
C |
A |
6: 84,553,964 (GRCm39) |
V218L |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,367,003 (GRCm39) |
I482V |
probably benign |
Het |
| Dok4 |
A |
T |
8: 95,594,053 (GRCm39) |
D47E |
possibly damaging |
Het |
| Dqx1 |
T |
A |
6: 83,036,028 (GRCm39) |
L120Q |
probably damaging |
Het |
| Duxf3 |
A |
T |
10: 58,066,558 (GRCm39) |
V157E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,653,516 (GRCm39) |
|
probably null |
Het |
| Eif2a |
C |
A |
3: 58,456,102 (GRCm39) |
P367Q |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,744,985 (GRCm39) |
R102C |
probably damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,666 (GRCm39) |
S347P |
probably damaging |
Het |
| Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,717,467 (GRCm39) |
D148V |
probably damaging |
Het |
| Gadl1 |
A |
T |
9: 115,903,155 (GRCm39) |
I495L |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,468 (GRCm39) |
T255A |
possibly damaging |
Het |
| Gm10972 |
A |
G |
3: 94,550,887 (GRCm39) |
K21E |
unknown |
Het |
| Gm57859 |
T |
A |
11: 113,583,223 (GRCm39) |
W517R |
probably damaging |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,829 (GRCm39) |
C44Y |
probably damaging |
Het |
| Hcar2 |
C |
T |
5: 124,003,249 (GRCm39) |
V85I |
probably benign |
Het |
| Hira |
T |
C |
16: 18,770,829 (GRCm39) |
V822A |
probably damaging |
Het |
| Ighv1-5 |
T |
A |
12: 114,477,156 (GRCm39) |
T49S |
probably damaging |
Het |
| Ints1 |
C |
T |
5: 139,754,731 (GRCm39) |
V603M |
probably damaging |
Het |
| Kdm2a |
A |
C |
19: 4,374,404 (GRCm39) |
L909R |
probably damaging |
Het |
| Klkb1 |
T |
A |
8: 45,747,827 (GRCm39) |
|
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,862,349 (GRCm39) |
H168R |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,654,340 (GRCm39) |
E386D |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,556,385 (GRCm39) |
E3303K |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,415,250 (GRCm39) |
V2732G |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,104,983 (GRCm39) |
L189P |
|
Het |
| Nlrc5 |
T |
C |
8: 95,248,598 (GRCm39) |
L1740S |
probably damaging |
Het |
| Nolc1 |
A |
G |
19: 46,071,257 (GRCm39) |
K402R |
probably benign |
Het |
| Or4b1b |
T |
A |
2: 90,112,098 (GRCm39) |
T274S |
possibly damaging |
Het |
| Or4k15 |
T |
A |
14: 50,364,952 (GRCm39) |
L306Q |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,219 (GRCm39) |
M61V |
probably damaging |
Het |
| Or8u8 |
T |
C |
2: 86,012,417 (GRCm39) |
I13V |
probably benign |
Het |
| Pnma8b |
A |
G |
7: 16,678,874 (GRCm39) |
|
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,080,860 (GRCm39) |
M35L |
probably benign |
Het |
| Postn |
A |
G |
3: 54,270,091 (GRCm39) |
K57E |
probably damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,905,775 (GRCm39) |
D110A |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,422,942 (GRCm39) |
V71M |
possibly damaging |
Het |
| Prdm11 |
T |
A |
2: 92,843,052 (GRCm39) |
I136F |
possibly damaging |
Het |
| Rfc1 |
A |
G |
5: 65,436,841 (GRCm39) |
L613P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,560,818 (GRCm39) |
D2981G |
probably benign |
Het |
| Sbf2 |
C |
A |
7: 110,213,923 (GRCm39) |
E16* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,168,651 (GRCm39) |
E322G |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,481,700 (GRCm39) |
C893S |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,249,139 (GRCm39) |
D323G |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 82,991,649 (GRCm39) |
Y453C |
probably damaging |
Het |
| Snx5 |
T |
C |
2: 144,099,894 (GRCm39) |
K137E |
probably damaging |
Het |
| Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
| Taok2 |
G |
A |
7: 126,474,050 (GRCm39) |
T352I |
probably damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,541 (GRCm39) |
R489S |
possibly damaging |
Het |
| Usp12 |
A |
T |
5: 146,689,264 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
A |
16: 87,263,174 (GRCm39) |
C125* |
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,201 (GRCm39) |
E733K |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,876,843 (GRCm39) |
I2832K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,747,761 (GRCm39) |
Y18C |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,246,455 (GRCm39) |
I335K |
probably benign |
Het |
| Zfp788 |
A |
T |
7: 41,298,275 (GRCm39) |
I304F |
possibly 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 |
|
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'- GATCTGTAACTAATGAACCTGATCC -3'
(R):5'- GAATCCTGAGTCTATGGACAATGC -3'
Sequencing Primer
(F):5'- ATTTCGGACCAACAGGAG -3'
(R):5'- GAGTCTATGGACAATGCCACTCTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation