Incidental Mutation 'R2373:9330159F19Rik'
| ID |
248208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
9330159F19Rik
|
| Ensembl Gene |
ENSMUSG00000004360 |
| Gene Name |
RIKEN cDNA 9330159F19 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R2373 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
29087602-29106775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29101039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 471
(N471D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092627]
[ENSMUST00000213489]
[ENSMUST00000213490]
[ENSMUST00000217011]
|
| AlphaFold |
D3Z623 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092627
AA Change: N471D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: N471D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4482
|
15 |
152 |
3e-43 |
PFAM |
|
low complexity region
|
270 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
635 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213489
AA Change: N471D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217011
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
| Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
| Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
| Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
| Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
| Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
| Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
Het |
|
| Other mutations in 9330159F19Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:9330159F19Rik
|
APN |
10 |
29,103,324 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01766:9330159F19Rik
|
APN |
10 |
29,100,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01896:9330159F19Rik
|
APN |
10 |
29,101,154 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01988:9330159F19Rik
|
APN |
10 |
29,101,107 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03007:9330159F19Rik
|
APN |
10 |
29,098,034 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
PIT1430001:9330159F19Rik
|
UTSW |
10 |
29,100,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0256:9330159F19Rik
|
UTSW |
10 |
29,098,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:9330159F19Rik
|
UTSW |
10 |
29,103,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1755:9330159F19Rik
|
UTSW |
10 |
29,098,290 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1759:9330159F19Rik
|
UTSW |
10 |
29,094,272 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1836:9330159F19Rik
|
UTSW |
10 |
29,097,795 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2511:9330159F19Rik
|
UTSW |
10 |
29,097,902 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3113:9330159F19Rik
|
UTSW |
10 |
29,100,372 (GRCm39) |
nonsense |
probably null |
|
|
R3755:9330159F19Rik
|
UTSW |
10 |
29,098,110 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3954:9330159F19Rik
|
UTSW |
10 |
29,100,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3956:9330159F19Rik
|
UTSW |
10 |
29,100,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3957:9330159F19Rik
|
UTSW |
10 |
29,100,805 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4321:9330159F19Rik
|
UTSW |
10 |
29,100,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:9330159F19Rik
|
UTSW |
10 |
29,100,819 (GRCm39) |
missense |
probably benign |
|
|
R4511:9330159F19Rik
|
UTSW |
10 |
29,100,819 (GRCm39) |
missense |
probably benign |
|
|
R4717:9330159F19Rik
|
UTSW |
10 |
29,097,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:9330159F19Rik
|
UTSW |
10 |
29,100,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5401:9330159F19Rik
|
UTSW |
10 |
29,101,136 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5585:9330159F19Rik
|
UTSW |
10 |
29,101,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5635:9330159F19Rik
|
UTSW |
10 |
29,094,273 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5647:9330159F19Rik
|
UTSW |
10 |
29,101,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6831:9330159F19Rik
|
UTSW |
10 |
29,100,675 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7085:9330159F19Rik
|
UTSW |
10 |
29,100,476 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7779:9330159F19Rik
|
UTSW |
10 |
29,101,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7813:9330159F19Rik
|
UTSW |
10 |
29,100,896 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8209:9330159F19Rik
|
UTSW |
10 |
29,094,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8224:9330159F19Rik
|
UTSW |
10 |
29,094,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:9330159F19Rik
|
UTSW |
10 |
29,094,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8492:9330159F19Rik
|
UTSW |
10 |
29,094,243 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8832:9330159F19Rik
|
UTSW |
10 |
29,100,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:9330159F19Rik
|
UTSW |
10 |
29,100,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:9330159F19Rik
|
UTSW |
10 |
29,103,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9722:9330159F19Rik
|
UTSW |
10 |
29,094,269 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9796:9330159F19Rik
|
UTSW |
10 |
29,101,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCCCTCAGTGACACAGAG -3'
(R):5'- ATCTGGGATCCGCTGATCTTGG -3'
Sequencing Primer
(F):5'- GGGACCCAGTTAGAATTTACGACTG -3'
(R):5'- GATCTCCAATCATGCTCATGGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation