Incidental Mutation 'R1637:4930522L14Rik'
| ID |
173239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930522L14Rik
|
| Ensembl Gene |
ENSMUSG00000072762 |
| Gene Name |
RIKEN cDNA 4930522L14 gene |
| Synonyms |
Gm42152 |
| MMRRC Submission |
039673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R1637 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
109883856-109899752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109886858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 50
(H50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100937]
[ENSMUST00000112547]
|
| AlphaFold |
E9QAG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100937
AA Change: H50L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762
AA Change: H50L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
5.37e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112547
AA Change: H50L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: H50L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Agpat5 |
A |
G |
8: 18,931,827 (GRCm39) |
R316G |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,573 (GRCm39) |
Q151* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,651,147 (GRCm39) |
D30G |
probably damaging |
Het |
| Atpaf1 |
A |
G |
4: 115,645,499 (GRCm39) |
S123G |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,614 (GRCm39) |
S1276P |
probably benign |
Het |
| Car1 |
T |
C |
3: 14,842,846 (GRCm39) |
I60V |
possibly damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,215,644 (GRCm39) |
I411V |
probably damaging |
Het |
| Cyp2c37 |
A |
T |
19: 39,990,426 (GRCm39) |
K375* |
probably null |
Het |
| Cysrt1 |
T |
C |
2: 25,129,297 (GRCm39) |
I72V |
probably benign |
Het |
| Dock9 |
T |
A |
14: 121,889,187 (GRCm39) |
D312V |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,396,760 (GRCm39) |
I42V |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,694 (GRCm39) |
T536A |
probably benign |
Het |
| Gjd2 |
A |
T |
2: 113,841,789 (GRCm39) |
Y229* |
probably null |
Het |
| Gramd1b |
A |
T |
9: 40,215,834 (GRCm39) |
|
probably null |
Het |
| Hcrtr2 |
T |
C |
9: 76,140,281 (GRCm39) |
T336A |
probably benign |
Het |
| Hjurp |
G |
A |
1: 88,193,843 (GRCm39) |
S279F |
probably benign |
Het |
| Ift140 |
C |
T |
17: 25,244,608 (GRCm39) |
L152F |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,813,105 (GRCm39) |
C56R |
probably damaging |
Het |
| Kif7 |
T |
C |
7: 79,352,585 (GRCm39) |
E850G |
probably damaging |
Het |
| Larp4b |
C |
G |
13: 9,201,133 (GRCm39) |
T335S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,118,268 (GRCm39) |
R42S |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,618,261 (GRCm39) |
L920R |
probably benign |
Het |
| Mapk8 |
G |
A |
14: 33,132,919 (GRCm39) |
R6C |
probably benign |
Het |
| Mpped1 |
C |
T |
15: 83,676,191 (GRCm39) |
|
probably benign |
Het |
| Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,474 (GRCm39) |
M66I |
probably benign |
Het |
| Nkpd1 |
T |
C |
7: 19,257,904 (GRCm39) |
I411T |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 89,321,238 (GRCm39) |
N382S |
possibly damaging |
Het |
| Or2t47 |
A |
T |
11: 58,442,246 (GRCm39) |
V273E |
possibly damaging |
Het |
| Or4c114 |
A |
T |
2: 88,905,396 (GRCm39) |
L13Q |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,664,060 (GRCm39) |
E303G |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,413 (GRCm39) |
M1047K |
probably benign |
Het |
| Pofut1 |
T |
G |
2: 153,107,709 (GRCm39) |
F268C |
probably damaging |
Het |
| Psrc1 |
G |
T |
3: 108,292,609 (GRCm39) |
S134I |
probably damaging |
Het |
| Slc6a2 |
A |
T |
8: 93,708,618 (GRCm39) |
I245F |
probably benign |
Het |
| Slc9a1 |
T |
C |
4: 133,149,534 (GRCm39) |
S787P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,736,798 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
A |
12: 76,042,776 (GRCm39) |
H3916N |
probably damaging |
Het |
| Taar6 |
A |
G |
10: 23,861,079 (GRCm39) |
S156P |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,975,170 (GRCm39) |
F86L |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,706,253 (GRCm39) |
L341H |
possibly damaging |
Het |
| Ttll8 |
A |
G |
15: 88,798,647 (GRCm39) |
V696A |
probably benign |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,222 (GRCm39) |
C301S |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,207,573 (GRCm39) |
Y928C |
probably benign |
Het |
| Zfand1 |
G |
A |
3: 10,411,042 (GRCm39) |
A104V |
probably benign |
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 |
|
|
R0891:4930522L14Rik
|
UTSW |
5 |
109,884,156 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1289:4930522L14Rik
|
UTSW |
5 |
109,884,756 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2014-04-24 |
Incidental Mutation