Incidental Mutation 'R5576:4930522L14Rik'
| ID |
437204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930522L14Rik
|
| Ensembl Gene |
ENSMUSG00000072762 |
| Gene Name |
RIKEN cDNA 4930522L14 gene |
| Synonyms |
Gm42152 |
| MMRRC Submission |
043131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R5576 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
109883856-109899752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109885570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 96
(T96I)
|
| 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 |
probably benign
Transcript: ENSMUST00000112547
AA Change: T96I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: T96I
| 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: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,084,457 (GRCm39) |
|
probably null |
Het |
| Agbl1 |
C |
T |
7: 75,984,985 (GRCm39) |
T134M |
probably benign |
Het |
| Agfg1 |
T |
A |
1: 82,848,445 (GRCm39) |
S32T |
probably benign |
Het |
| Ankrd17 |
A |
C |
5: 90,391,083 (GRCm39) |
S2087A |
probably benign |
Het |
| Apob |
A |
T |
12: 8,048,662 (GRCm39) |
E1012V |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,887,737 (GRCm39) |
V297E |
probably benign |
Het |
| BC034090 |
T |
G |
1: 155,117,214 (GRCm39) |
K301N |
probably benign |
Het |
| Bhlha9 |
T |
C |
11: 76,563,595 (GRCm39) |
I74T |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,069,712 (GRCm39) |
H189R |
probably benign |
Het |
| Ccdc122 |
G |
A |
14: 77,329,317 (GRCm39) |
M123I |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,724,922 (GRCm39) |
|
probably null |
Het |
| Dnaja2 |
A |
T |
8: 86,266,033 (GRCm39) |
L351I |
possibly damaging |
Het |
| Efcab6 |
C |
A |
15: 83,834,201 (GRCm39) |
S469I |
probably benign |
Het |
| Esp15 |
C |
A |
17: 39,953,564 (GRCm39) |
T17K |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,163,238 (GRCm39) |
T172A |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,985,005 (GRCm39) |
D305E |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,382,602 (GRCm39) |
T541A |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,865,710 (GRCm39) |
Y768H |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,753,931 (GRCm39) |
V514A |
possibly damaging |
Het |
| Melk |
A |
G |
4: 44,312,255 (GRCm39) |
E141G |
probably null |
Het |
| Nln |
A |
G |
13: 104,195,338 (GRCm39) |
Y245H |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,310,414 (GRCm39) |
R1563H |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,369 (GRCm39) |
M101L |
probably benign |
Het |
| Or8b44 |
A |
C |
9: 38,410,204 (GRCm39) |
K80Q |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,515,875 (GRCm39) |
S53P |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,459,931 (GRCm39) |
K1112* |
probably null |
Het |
| Ppfia4 |
T |
G |
1: 134,250,788 (GRCm39) |
D184A |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,079,251 (GRCm39) |
D216E |
probably benign |
Het |
| Sbno2 |
C |
T |
10: 79,903,171 (GRCm39) |
A398T |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,552 (GRCm39) |
S94T |
probably benign |
Het |
| Skp1 |
T |
G |
11: 52,133,415 (GRCm39) |
D33E |
possibly damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,433,364 (GRCm39) |
W220R |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,258 (GRCm39) |
M826K |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,343,822 (GRCm39) |
K322E |
probably benign |
Het |
| Spata32 |
T |
A |
11: 103,100,653 (GRCm39) |
N38I |
possibly damaging |
Het |
| Sycp1 |
T |
C |
3: 102,726,218 (GRCm39) |
R969G |
probably damaging |
Het |
| Trgc2 |
T |
C |
13: 19,489,301 (GRCm39) |
I144V |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,377 (GRCm39) |
L385S |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,444,836 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
T |
A |
15: 81,906,693 (GRCm39) |
D79E |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,426,744 (GRCm39) |
C2467* |
probably null |
Het |
| Zfp26 |
A |
G |
9: 20,348,803 (GRCm39) |
V587A |
possibly damaging |
Het |
| Zfp553 |
C |
T |
7: 126,835,875 (GRCm39) |
R477C |
possibly 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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TCATAGGGTTTGTGTTCAGTATGCA -3'
(R):5'- GAAGGATTCTATAAATGTGAGCCATGT -3'
Sequencing Primer
(F):5'- GCATTCGAAGATTACCAGGGTATAC -3'
(R):5'- GTGAGCCATGTAATAACACTCTTACC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation