Incidental Mutation 'R0891:4930522L14Rik'
ID |
83501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930522L14Rik
|
Ensembl Gene |
ENSMUSG00000072762 |
Gene Name |
RIKEN cDNA 4930522L14 gene |
Synonyms |
Gm42152 |
MMRRC Submission |
039054-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R0891 (G1)
|
Quality Score |
150 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
109883856-109899752 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109884156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 567
(N567K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100937]
[ENSMUST00000112547]
|
AlphaFold |
E9QAG4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100937
|
SMART Domains |
Protein: ENSMUSP00000098497 Gene: ENSMUSG00000072762
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
5.37e-15 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112547
AA Change: N567K
PolyPhen 2
Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000108166 Gene: ENSMUSG00000072762 AA Change: N567K
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
7.19e-16 |
SMART |
ZnF_C2H2
|
103 |
125 |
2.75e-3 |
SMART |
ZnF_C2H2
|
131 |
153 |
1.72e-4 |
SMART |
ZnF_C2H2
|
159 |
181 |
7.9e-4 |
SMART |
ZnF_C2H2
|
187 |
209 |
1.04e-3 |
SMART |
ZnF_C2H2
|
215 |
237 |
1.1e-2 |
SMART |
ZnF_C2H2
|
243 |
265 |
3.89e-3 |
SMART |
ZnF_C2H2
|
271 |
294 |
3.69e-4 |
SMART |
ZnF_C2H2
|
300 |
322 |
5.9e-3 |
SMART |
ZnF_C2H2
|
328 |
350 |
1.56e-2 |
SMART |
ZnF_C2H2
|
356 |
378 |
1.18e-2 |
SMART |
ZnF_C2H2
|
384 |
406 |
9.08e-4 |
SMART |
ZnF_C2H2
|
412 |
434 |
1.98e-4 |
SMART |
ZnF_C2H2
|
440 |
462 |
2.61e-4 |
SMART |
ZnF_C2H2
|
468 |
491 |
1.38e-3 |
SMART |
ZnF_C2H2
|
497 |
519 |
3.39e-3 |
SMART |
ZnF_C2H2
|
525 |
547 |
1.4e-4 |
SMART |
ZnF_C2H2
|
553 |
576 |
1.95e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
5.14e-3 |
SMART |
ZnF_C2H2
|
610 |
632 |
1.67e-2 |
SMART |
ZnF_C2H2
|
638 |
660 |
1.72e-4 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
Ankrd45 |
A |
G |
1: 160,982,906 (GRCm39) |
N139S |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
Dcst1 |
G |
A |
3: 89,260,584 (GRCm39) |
T560I |
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 90,996,337 (GRCm39) |
I50N |
probably damaging |
Het |
Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
Pik3r1 |
A |
T |
13: 101,837,974 (GRCm39) |
N299K |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,972,831 (GRCm39) |
|
probably benign |
Het |
Semp2l1 |
T |
A |
1: 32,585,442 (GRCm39) |
H156L |
possibly damaging |
Het |
Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
probably damaging |
Het |
|
Other mutations in 4930522L14Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02622:4930522L14Rik
|
APN |
5 |
109,887,101 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0164:4930522L14Rik
|
UTSW |
5 |
109,884,713 (GRCm39) |
missense |
probably damaging |
0.96 |
R0164:4930522L14Rik
|
UTSW |
5 |
109,884,713 (GRCm39) |
missense |
probably damaging |
0.96 |
R0432:4930522L14Rik
|
UTSW |
5 |
109,884,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R0463:4930522L14Rik
|
UTSW |
5 |
109,884,926 (GRCm39) |
unclassified |
probably benign |
|
R1289:4930522L14Rik
|
UTSW |
5 |
109,884,756 (GRCm39) |
nonsense |
probably null |
|
R1637:4930522L14Rik
|
UTSW |
5 |
109,886,858 (GRCm39) |
missense |
probably benign |
0.01 |
R1764:4930522L14Rik
|
UTSW |
5 |
109,884,655 (GRCm39) |
missense |
probably benign |
0.22 |
R1793:4930522L14Rik
|
UTSW |
5 |
109,884,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:4930522L14Rik
|
UTSW |
5 |
109,884,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1899:4930522L14Rik
|
UTSW |
5 |
109,884,664 (GRCm39) |
missense |
probably benign |
0.04 |
R2135:4930522L14Rik
|
UTSW |
5 |
109,885,509 (GRCm39) |
missense |
probably benign |
0.00 |
R2143:4930522L14Rik
|
UTSW |
5 |
109,884,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R2877:4930522L14Rik
|
UTSW |
5 |
109,886,811 (GRCm39) |
splice site |
probably benign |
|
R3847:4930522L14Rik
|
UTSW |
5 |
109,884,190 (GRCm39) |
splice site |
probably null |
|
R4431:4930522L14Rik
|
UTSW |
5 |
109,884,440 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4578:4930522L14Rik
|
UTSW |
5 |
109,884,537 (GRCm39) |
nonsense |
probably null |
|
R4611:4930522L14Rik
|
UTSW |
5 |
109,885,259 (GRCm39) |
missense |
probably benign |
0.00 |
R4776:4930522L14Rik
|
UTSW |
5 |
109,884,739 (GRCm39) |
missense |
probably benign |
0.22 |
R4921:4930522L14Rik
|
UTSW |
5 |
109,885,662 (GRCm39) |
missense |
probably benign |
0.25 |
R4937:4930522L14Rik
|
UTSW |
5 |
109,884,067 (GRCm39) |
missense |
probably benign |
0.12 |
R4952:4930522L14Rik
|
UTSW |
5 |
109,887,063 (GRCm39) |
critical splice donor site |
probably null |
|
R4980:4930522L14Rik
|
UTSW |
5 |
109,885,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:4930522L14Rik
|
UTSW |
5 |
109,885,196 (GRCm39) |
missense |
probably benign |
|
R5088:4930522L14Rik
|
UTSW |
5 |
109,883,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R5143:4930522L14Rik
|
UTSW |
5 |
109,887,064 (GRCm39) |
critical splice donor site |
probably null |
|
R5183:4930522L14Rik
|
UTSW |
5 |
109,887,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R5461:4930522L14Rik
|
UTSW |
5 |
109,884,643 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5498:4930522L14Rik
|
UTSW |
5 |
109,885,413 (GRCm39) |
missense |
probably benign |
0.05 |
R5576:4930522L14Rik
|
UTSW |
5 |
109,885,570 (GRCm39) |
missense |
probably benign |
0.00 |
R6081:4930522L14Rik
|
UTSW |
5 |
109,887,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R6387:4930522L14Rik
|
UTSW |
5 |
109,884,881 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6509:4930522L14Rik
|
UTSW |
5 |
109,885,250 (GRCm39) |
nonsense |
probably null |
|
R6585:4930522L14Rik
|
UTSW |
5 |
109,885,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R7309:4930522L14Rik
|
UTSW |
5 |
109,884,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R7740:4930522L14Rik
|
UTSW |
5 |
109,885,370 (GRCm39) |
nonsense |
probably null |
|
R7877:4930522L14Rik
|
UTSW |
5 |
109,884,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R8526:4930522L14Rik
|
UTSW |
5 |
109,885,655 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8884:4930522L14Rik
|
UTSW |
5 |
109,885,354 (GRCm39) |
missense |
probably damaging |
0.98 |
R9047:4930522L14Rik
|
UTSW |
5 |
109,885,420 (GRCm39) |
missense |
|
|
R9432:4930522L14Rik
|
UTSW |
5 |
109,884,917 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
|
Posted On |
2013-11-08 |