Incidental Mutation 'IGL03007:9330159F19Rik'
ID |
407597 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03007
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
29087602-29106775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29098034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 144
(N144D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149712
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092627]
[ENSMUST00000213489]
[ENSMUST00000213490]
[ENSMUST00000217011]
|
AlphaFold |
D3Z623 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000092627
AA Change: N144D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000090291 Gene: ENSMUSG00000004360 AA Change: N144D
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: N144D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213490
AA Change: N144D
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217011
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830031A19Rik |
T |
C |
11: 23,999,248 (GRCm39) |
|
probably benign |
Het |
Ankfy1 |
T |
C |
11: 72,641,347 (GRCm39) |
F640S |
probably damaging |
Het |
Asb8 |
A |
G |
15: 98,040,615 (GRCm39) |
Y16H |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,496,193 (GRCm39) |
|
probably benign |
Het |
Btbd8 |
T |
A |
5: 107,651,542 (GRCm39) |
V145E |
probably benign |
Het |
Celf3 |
A |
G |
3: 94,394,444 (GRCm39) |
T183A |
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,159,690 (GRCm39) |
V56A |
probably damaging |
Het |
Erbb2 |
A |
C |
11: 98,319,819 (GRCm39) |
|
probably benign |
Het |
Ighv6-4 |
A |
T |
12: 114,370,213 (GRCm39) |
Y80N |
possibly damaging |
Het |
Igsf9b |
T |
C |
9: 27,244,378 (GRCm39) |
S782P |
probably damaging |
Het |
Itsn1 |
A |
T |
16: 91,581,050 (GRCm39) |
|
probably benign |
Het |
Kcnt2 |
T |
A |
1: 140,282,245 (GRCm39) |
Y77N |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,680,401 (GRCm39) |
F359S |
probably damaging |
Het |
Mtmr6 |
G |
T |
14: 60,526,984 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
T |
16: 32,570,866 (GRCm39) |
S642F |
possibly damaging |
Het |
Ncoa1 |
T |
A |
12: 4,389,114 (GRCm39) |
I54F |
possibly damaging |
Het |
Nfx1 |
C |
A |
4: 40,984,962 (GRCm39) |
T362K |
probably benign |
Het |
Ntrk1 |
T |
C |
3: 87,690,050 (GRCm39) |
S449G |
possibly damaging |
Het |
Odc1 |
T |
A |
12: 17,598,811 (GRCm39) |
H230Q |
probably benign |
Het |
Or10d4 |
T |
C |
9: 39,580,767 (GRCm39) |
V138A |
possibly damaging |
Het |
Or10h28 |
A |
G |
17: 33,487,857 (GRCm39) |
E53G |
probably damaging |
Het |
Or1j19 |
T |
C |
2: 36,676,812 (GRCm39) |
S92P |
probably damaging |
Het |
Or8d1 |
C |
T |
9: 38,766,592 (GRCm39) |
T78I |
probably damaging |
Het |
Plekhh2 |
A |
C |
17: 84,882,388 (GRCm39) |
S665R |
possibly damaging |
Het |
Qpct |
T |
A |
17: 79,378,294 (GRCm39) |
F155I |
probably damaging |
Het |
Rcor2 |
C |
A |
19: 7,251,718 (GRCm39) |
T379K |
probably benign |
Het |
Rint1 |
A |
G |
5: 24,020,699 (GRCm39) |
N574S |
probably benign |
Het |
Rsbn1 |
C |
T |
3: 103,836,195 (GRCm39) |
A411V |
probably damaging |
Het |
Sbno2 |
A |
T |
10: 79,894,384 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,115 (GRCm39) |
S661P |
probably damaging |
Het |
Syn3 |
A |
T |
10: 85,900,778 (GRCm39) |
M370K |
possibly damaging |
Het |
Tex101 |
G |
A |
7: 24,369,906 (GRCm39) |
|
probably benign |
Het |
Tmem255b |
C |
T |
8: 13,507,066 (GRCm39) |
T265I |
possibly damaging |
Het |
Trio |
G |
T |
15: 27,902,828 (GRCm39) |
A211D |
probably damaging |
Het |
Zfp638 |
C |
A |
6: 83,961,866 (GRCm39) |
Q1902K |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |