Incidental Mutation 'R1486:4930430A15Rik'
| ID |
163446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930430A15Rik
|
| Ensembl Gene |
ENSMUSG00000027157 |
| Gene Name |
RIKEN cDNA 4930430A15 gene |
| Synonyms |
|
| MMRRC Submission |
039539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111162061-111229602 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111200358 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 402
(Q402P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028577
AA Change: Q402P
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Q402P
| 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: Q30P
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: Q30P
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402H24Rik |
A |
G |
2: 130,737,418 (GRCm38) |
L633P |
probably damaging |
Het |
| 4933425L06Rik |
T |
C |
13: 105,109,783 (GRCm38) |
V284A |
probably benign |
Het |
| A730015C16Rik |
A |
G |
4: 108,847,946 (GRCm38) |
E19G |
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,415,695 (GRCm38) |
|
noncoding transcript |
Het |
| Acrbp |
T |
A |
6: 125,050,622 (GRCm38) |
Y78N |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,681,856 (GRCm38) |
S422G |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,736,948 (GRCm38) |
V429A |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,794,691 (GRCm38) |
C454R |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,664,929 (GRCm38) |
I278T |
probably damaging |
Het |
| Birc6 |
G |
T |
17: 74,639,820 (GRCm38) |
V2845L |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,876,519 (GRCm38) |
I1008V |
probably benign |
Het |
| Catsperg1 |
C |
A |
7: 29,185,495 (GRCm38) |
K900N |
probably damaging |
Het |
| Chek2 |
T |
G |
5: 110,841,227 (GRCm38) |
|
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,834,272 (GRCm38) |
S4352T |
probably damaging |
Het |
| Eif3c |
C |
T |
7: 126,564,721 (GRCm38) |
R50Q |
probably damaging |
Het |
| Eml6 |
A |
C |
11: 29,805,114 (GRCm38) |
I887S |
possibly damaging |
Het |
| Fopnl |
A |
G |
16: 14,300,140 (GRCm38) |
V172A |
probably benign |
Het |
| Gipc1 |
C |
T |
8: 83,661,179 (GRCm38) |
Q63* |
probably null |
Het |
| Grm4 |
A |
G |
17: 27,434,717 (GRCm38) |
L706P |
probably damaging |
Het |
| Irak3 |
T |
C |
10: 120,143,061 (GRCm38) |
D495G |
probably damaging |
Het |
| Itga9 |
T |
G |
9: 118,626,450 (GRCm38) |
V64G |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,097,256 (GRCm38) |
I759T |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,834,304 (GRCm38) |
F1721I |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,607,529 (GRCm38) |
V390E |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,699,720 (GRCm38) |
T1195I |
probably benign |
Het |
| Mphosph8 |
C |
T |
14: 56,689,039 (GRCm38) |
T646I |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,748,598 (GRCm38) |
V422D |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 31,818,344 (GRCm38) |
E548G |
probably damaging |
Het |
| Nup37 |
T |
C |
10: 88,148,254 (GRCm38) |
Y11H |
probably damaging |
Het |
| Olfr1062 |
T |
A |
2: 86,423,481 (GRCm38) |
H65L |
probably damaging |
Het |
| Olfr1377 |
G |
A |
11: 50,984,781 (GRCm38) |
V27I |
probably benign |
Het |
| Olfr585 |
A |
T |
7: 103,098,430 (GRCm38) |
I230F |
probably damaging |
Het |
| Olfr601 |
T |
A |
7: 103,358,994 (GRCm38) |
M67L |
possibly damaging |
Het |
| Pcgf1 |
T |
G |
6: 83,079,126 (GRCm38) |
S70R |
probably damaging |
Het |
| Prps1l3 |
C |
T |
12: 57,238,787 (GRCm38) |
A121V |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,654,852 (GRCm38) |
Y57H |
probably damaging |
Het |
| Rbm12b2 |
A |
G |
4: 12,094,841 (GRCm38) |
R567G |
probably benign |
Het |
| Rep15 |
T |
A |
6: 147,033,079 (GRCm38) |
F139I |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,172,858 (GRCm38) |
Y92C |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 72,750,513 (GRCm38) |
T803A |
probably benign |
Het |
| Skint11 |
G |
A |
4: 114,194,818 (GRCm38) |
|
probably null |
Het |
| Sobp |
T |
G |
10: 43,022,522 (GRCm38) |
S356R |
probably benign |
Het |
| Spats2l |
T |
C |
1: 57,900,811 (GRCm38) |
I228T |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,807,645 (GRCm38) |
|
probably null |
Het |
| Stox1 |
T |
C |
10: 62,664,636 (GRCm38) |
D715G |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,311,839 (GRCm38) |
G275W |
probably damaging |
Het |
| Tmc5 |
C |
T |
7: 118,673,432 (GRCm38) |
P942S |
probably benign |
Het |
| Tor4a |
A |
T |
2: 25,194,679 (GRCm38) |
I404N |
possibly damaging |
Het |
| Ttc3 |
G |
A |
16: 94,448,129 (GRCm38) |
R1162Q |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,777,727 (GRCm38) |
K164E |
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 |
|
R0829:4930430A15Rik
|
UTSW |
2 |
111,198,105 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- AGCAGGCATCTAACATGAGCCAAATAAA -3'
(R):5'- GCCGATTACCCCAAAACCGATTAAGT -3'
Sequencing Primer
(F):5'- CATGAGCCAAATAAAGTTCCCTTG -3'
(R):5'- TCAATGCTTGTGTACCTTGAAC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation