Incidental Mutation 'R6081:4930522L14Rik'
| ID |
482916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930522L14Rik
|
| Ensembl Gene |
ENSMUSG00000072762 |
| Gene Name |
RIKEN cDNA 4930522L14 gene |
| Synonyms |
Gm42152 |
| MMRRC Submission |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
109883856-109899752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109887097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 33
(M33K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100937]
[ENSMUST00000112547]
|
| AlphaFold |
E9QAG4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100937
AA Change: M33K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762
AA Change: M33K
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
64 |
5.37e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112547
AA Change: M33K
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: M33K
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
| Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
| Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TGTAGCCTAAAACATAGTACCAGAAAA -3'
(R):5'- ATGTGTGCTCAGTACTGCTTC -3'
Sequencing Primer
(F):5'- cctcattcttcctcattctcaa -3'
(R):5'- CAGTTTCCTTCTAAGATGACTTGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation