Incidental Mutation 'R5336:9330159F19Rik'
| ID |
423528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
9330159F19Rik
|
| Ensembl Gene |
ENSMUSG00000004360 |
| Gene Name |
RIKEN cDNA 9330159F19 gene |
| Synonyms |
|
| MMRRC Submission |
042844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5336 (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 T
at 29100495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 289
(E289D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092627]
[ENSMUST00000213489]
[ENSMUST00000213490]
[ENSMUST00000217011]
|
| AlphaFold |
D3Z623 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092627
AA Change: E289D
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: E289D
| 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 damaging
Transcript: ENSMUST00000213489
AA Change: E289D
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217011
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
| Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
| Chpf |
C |
A |
1: 75,452,351 (GRCm39) |
A368S |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
| Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,618,002 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
C |
4: 138,036,741 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
| Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,859 (GRCm39) |
F177L |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
| Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,487 (GRCm39) |
Y377H |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,084 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
| Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
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 |
|
R2373:9330159F19Rik
|
UTSW |
10 |
29,101,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GTCAGGGCATTCTTCCAACC -3'
(R):5'- AGTCCAGTGTCTTTGTTACCTG -3'
Sequencing Primer
(F):5'- AGGGCATTCTTCCAACCAATTTG -3'
(R):5'- AGTGTCTTTGTTACCTGGAAGATTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation