Incidental Mutation 'R0829:4930430A15Rik'
| ID |
262283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930430A15Rik
|
| Ensembl Gene |
ENSMUSG00000027157 |
| Gene Name |
RIKEN cDNA 4930430A15 gene |
| Synonyms |
|
| MMRRC Submission |
039009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R0829 (G1)
|
| Quality Score |
83 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111162061-111229602 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111198105 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 42
(T42I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000028577
AA Change: T414I
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: T414I
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
78 |
107 |
1.61e-4 |
SMART |
|
ANK
|
111 |
140 |
3.6e-2 |
SMART |
|
ANK
|
144 |
173 |
4.89e-4 |
SMART |
|
ANK
|
177 |
206 |
4.03e-5 |
SMART |
|
ANK
|
210 |
239 |
8.72e-1 |
SMART |
|
Blast:ANK
|
243 |
272 |
4e-12 |
BLAST |
|
low complexity region
|
460 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142636
AA Change: T42I
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: T42I
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
1 |
69 |
7.48e-6 |
PROSPERO |
|
internal_repeat_1
|
81 |
153 |
7.48e-6 |
PROSPERO |
|
low complexity region
|
168 |
183 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
| Validation Efficiency |
95% (37/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
A |
16: 38,445,788 (GRCm38) |
A331S |
probably benign |
Het |
| Atp4b |
T |
G |
8: 13,390,098 (GRCm38) |
T83P |
probably damaging |
Het |
| Ccdc177 |
T |
C |
12: 80,759,479 (GRCm38) |
E7G |
probably damaging |
Het |
| Cercam |
G |
T |
2: 29,871,067 (GRCm38) |
R126L |
probably damaging |
Het |
| Cpb1 |
C |
T |
3: 20,251,943 (GRCm38) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,504,079 (GRCm38) |
M2311V |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,005,176 (GRCm38) |
V2458L |
probably benign |
Het |
| Dnajb6 |
T |
C |
5: 29,785,022 (GRCm38) |
|
probably benign |
Het |
| Dst |
A |
G |
1: 34,163,220 (GRCm38) |
T210A |
probably damaging |
Het |
| Gfpt1 |
T |
C |
6: 87,053,865 (GRCm38) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,298,448 (GRCm38) |
D429N |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,899,888 (GRCm38) |
|
probably null |
Het |
| Itgb5 |
A |
G |
16: 33,944,201 (GRCm38) |
I359V |
probably benign |
Het |
| Lemd3 |
T |
C |
10: 120,979,083 (GRCm38) |
T82A |
probably benign |
Het |
| Lrrc74b |
A |
G |
16: 17,558,390 (GRCm38) |
|
probably benign |
Het |
| Mitf |
A |
T |
6: 98,003,908 (GRCm38) |
I246F |
possibly damaging |
Het |
| Msgn1 |
C |
T |
12: 11,208,524 (GRCm38) |
R142Q |
probably damaging |
Het |
| Myh8 |
C |
A |
11: 67,283,500 (GRCm38) |
|
probably benign |
Het |
| Nacad |
C |
A |
11: 6,601,158 (GRCm38) |
V678L |
probably benign |
Het |
| Nomo1 |
A |
G |
7: 46,076,172 (GRCm38) |
|
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,208,829 (GRCm38) |
G206R |
probably benign |
Het |
| Olfr1186 |
A |
T |
2: 88,526,228 (GRCm38) |
Y215F |
probably damaging |
Het |
| Olfr1496 |
T |
A |
19: 13,781,192 (GRCm38) |
D191E |
probably damaging |
Het |
| Olfr213 |
A |
G |
6: 116,541,265 (GRCm38) |
T271A |
probably benign |
Het |
| Olfr724 |
C |
A |
14: 49,961,046 (GRCm38) |
V9L |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,502,766 (GRCm38) |
V1068E |
probably damaging |
Het |
| Plat |
A |
G |
8: 22,772,257 (GRCm38) |
Y99C |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,417,839 (GRCm38) |
|
probably null |
Het |
| Rbm25 |
T |
C |
12: 83,660,376 (GRCm38) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,418,689 (GRCm38) |
D998G |
probably damaging |
Het |
| Serpinb6a |
A |
G |
13: 33,935,701 (GRCm38) |
|
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,687,813 (GRCm38) |
I507M |
probably benign |
Het |
| Srebf2 |
T |
A |
15: 82,177,589 (GRCm38) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,644,385 (GRCm38) |
C924R |
probably damaging |
Het |
| Tmem110 |
C |
T |
14: 30,862,885 (GRCm38) |
R56C |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,493,801 (GRCm38) |
S221P |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,671,246 (GRCm38) |
A35T |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
|
| Other mutations in 4930430A15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:4930430A15Rik
|
APN |
2 |
111,220,762 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01403:4930430A15Rik
|
APN |
2 |
111,229,170 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01431:4930430A15Rik
|
APN |
2 |
111,225,395 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01601:4930430A15Rik
|
APN |
2 |
111,193,478 (GRCm38) |
missense |
unknown |
|
|
IGL01649:4930430A15Rik
|
APN |
2 |
111,214,576 (GRCm38) |
splice site |
probably benign |
|
|
IGL02355:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02362:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02485:4930430A15Rik
|
APN |
2 |
111,228,325 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02620:4930430A15Rik
|
APN |
2 |
111,211,625 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03156:4930430A15Rik
|
APN |
2 |
111,200,412 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02980:4930430A15Rik
|
UTSW |
2 |
111,164,473 (GRCm38) |
missense |
unknown |
|
|
R0577:4930430A15Rik
|
UTSW |
2 |
111,194,349 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0638:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0645:4930430A15Rik
|
UTSW |
2 |
111,214,583 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0671:4930430A15Rik
|
UTSW |
2 |
111,204,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1486:4930430A15Rik
|
UTSW |
2 |
111,200,358 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1509:4930430A15Rik
|
UTSW |
2 |
111,218,627 (GRCm38) |
missense |
probably benign |
|
|
R1672:4930430A15Rik
|
UTSW |
2 |
111,220,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2073:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2074:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2075:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2899:4930430A15Rik
|
UTSW |
2 |
111,220,670 (GRCm38) |
splice site |
probably benign |
|
|
R2965:4930430A15Rik
|
UTSW |
2 |
111,204,019 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3110:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3112:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4489:4930430A15Rik
|
UTSW |
2 |
111,220,702 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4821:4930430A15Rik
|
UTSW |
2 |
111,204,145 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4925:4930430A15Rik
|
UTSW |
2 |
111,218,616 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5045:4930430A15Rik
|
UTSW |
2 |
111,193,459 (GRCm38) |
missense |
unknown |
|
|
R5057:4930430A15Rik
|
UTSW |
2 |
111,225,421 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5128:4930430A15Rik
|
UTSW |
2 |
111,164,329 (GRCm38) |
nonsense |
probably null |
|
|
R5250:4930430A15Rik
|
UTSW |
2 |
111,228,077 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5333:4930430A15Rik
|
UTSW |
2 |
111,194,337 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5376:4930430A15Rik
|
UTSW |
2 |
111,215,599 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5677:4930430A15Rik
|
UTSW |
2 |
111,211,565 (GRCm38) |
missense |
probably benign |
|
|
R5722:4930430A15Rik
|
UTSW |
2 |
111,204,123 (GRCm38) |
missense |
probably benign |
|
|
R5735:4930430A15Rik
|
UTSW |
2 |
111,225,492 (GRCm38) |
nonsense |
probably null |
|
|
R6170:4930430A15Rik
|
UTSW |
2 |
111,227,948 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6366:4930430A15Rik
|
UTSW |
2 |
111,169,592 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6496:4930430A15Rik
|
UTSW |
2 |
111,164,472 (GRCm38) |
missense |
unknown |
|
|
R6654:4930430A15Rik
|
UTSW |
2 |
111,171,884 (GRCm38) |
missense |
unknown |
|
|
R6983:4930430A15Rik
|
UTSW |
2 |
111,228,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7371:4930430A15Rik
|
UTSW |
2 |
111,193,481 (GRCm38) |
missense |
unknown |
|
|
R7958:4930430A15Rik
|
UTSW |
2 |
111,170,325 (GRCm38) |
missense |
unknown |
|
|
R8421:4930430A15Rik
|
UTSW |
2 |
111,218,610 (GRCm38) |
nonsense |
probably null |
|
|
R8495:4930430A15Rik
|
UTSW |
2 |
111,229,410 (GRCm38) |
start codon destroyed |
probably null |
0.33 |
|
R8534:4930430A15Rik
|
UTSW |
2 |
111,228,035 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8671:4930430A15Rik
|
UTSW |
2 |
111,229,532 (GRCm38) |
unclassified |
probably benign |
|
|
R8679:4930430A15Rik
|
UTSW |
2 |
111,229,222 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8743:4930430A15Rik
|
UTSW |
2 |
111,169,672 (GRCm38) |
missense |
unknown |
|
|
R8983:4930430A15Rik
|
UTSW |
2 |
111,200,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9213:4930430A15Rik
|
UTSW |
2 |
111,190,354 (GRCm38) |
missense |
unknown |
|
|
R9457:4930430A15Rik
|
UTSW |
2 |
111,170,286 (GRCm38) |
missense |
unknown |
|
|
R9723:4930430A15Rik
|
UTSW |
2 |
111,228,355 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9745:4930430A15Rik
|
UTSW |
2 |
111,169,663 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation