Incidental Mutation 'R5143:4930522L14Rik'
ID |
396515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930522L14Rik
|
Ensembl Gene |
ENSMUSG00000072762 |
Gene Name |
RIKEN cDNA 4930522L14 gene |
Synonyms |
Gm42152 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.099)
|
Stock # |
R5143 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
109883856-109899752 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 109887064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100937]
[ENSMUST00000112547]
|
AlphaFold |
E9QAG4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000100937
|
SMART Domains |
Protein: ENSMUSP00000098497 Gene: ENSMUSG00000072762
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
64 |
5.37e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112547
|
SMART Domains |
Protein: ENSMUSP00000108166 Gene: ENSMUSG00000072762
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
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 |
|
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 |
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 |
PCR Primer
(F):5'- AGCCTAAAACATAGTACCAGAAAATG -3'
(R):5'- CTGATGTGTGCTCAGTACTGCT -3'
Sequencing Primer
(F):5'- cctcattcttcctcattctc -3'
(R):5'- CAGTTTCCTTCTAAGATGACTTGG -3'
|
Posted On |
2016-06-21 |