Incidental Mutation 'R5333:4930430A15Rik'
| ID |
423336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930430A15Rik
|
| Ensembl Gene |
ENSMUSG00000027157 |
| Gene Name |
RIKEN cDNA 4930430A15 gene |
| Synonyms |
|
| MMRRC Submission |
042915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R5333 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111162061-111229602 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111194337 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 61
(Y61N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000142636]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000028577
AA Change: Y433N
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: Y433N
| 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: Y61N
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157
AA Change: Y61N
| 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: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| Abca14 |
T |
A |
7: 120,289,546 (GRCm38) |
Y1238* |
probably null |
Het |
| Abcb5 |
A |
T |
12: 118,867,942 (GRCm38) |
V1225D |
probably damaging |
Het |
| Arhgef15 |
A |
G |
11: 68,947,196 (GRCm38) |
|
probably benign |
Het |
| As3mt |
A |
G |
19: 46,708,196 (GRCm38) |
R58G |
probably null |
Het |
| Asap1 |
T |
G |
15: 64,127,414 (GRCm38) |
N525T |
possibly damaging |
Het |
| Bhmt2 |
A |
G |
13: 93,671,430 (GRCm38) |
V50A |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,890,935 (GRCm38) |
I36F |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,944,976 (GRCm38) |
S63P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,143,161 (GRCm38) |
E56G |
possibly damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,326,152 (GRCm38) |
Y541C |
probably benign |
Het |
| Cenph |
G |
T |
13: 100,761,772 (GRCm38) |
H208N |
probably benign |
Het |
| Cfap65 |
A |
T |
1: 74,903,175 (GRCm38) |
L1740Q |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,436,740 (GRCm38) |
D623G |
probably damaging |
Het |
| Ckap4 |
C |
A |
10: 84,527,610 (GRCm38) |
V530L |
probably damaging |
Het |
| Cldn13 |
A |
T |
5: 134,915,015 (GRCm38) |
N105K |
probably benign |
Het |
| Ddn |
T |
C |
15: 98,805,356 (GRCm38) |
D685G |
possibly damaging |
Het |
| Fam155a |
T |
A |
8: 9,770,762 (GRCm38) |
Q86L |
possibly damaging |
Het |
| Fdxr |
T |
C |
11: 115,272,258 (GRCm38) |
I70V |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,624,180 (GRCm38) |
Y1050N |
probably damaging |
Het |
| Impad1 |
A |
C |
4: 4,767,963 (GRCm38) |
V271G |
possibly damaging |
Het |
| Iqcf3 |
A |
G |
9: 106,553,661 (GRCm38) |
I96T |
possibly damaging |
Het |
| Itgax |
A |
G |
7: 128,142,283 (GRCm38) |
Y822C |
probably damaging |
Het |
| Katnb1 |
A |
T |
8: 95,095,606 (GRCm38) |
I286L |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,525,228 (GRCm38) |
I424R |
probably benign |
Het |
| Lrpprc |
C |
A |
17: 84,790,393 (GRCm38) |
A41S |
probably benign |
Het |
| Mast3 |
A |
G |
8: 70,783,501 (GRCm38) |
L761P |
probably benign |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm38) |
I251V |
possibly damaging |
Het |
| Mpp4 |
C |
A |
1: 59,157,441 (GRCm38) |
R44L |
probably benign |
Het |
| Nkain3 |
T |
A |
4: 20,484,889 (GRCm38) |
M63L |
probably benign |
Het |
| Nup88 |
A |
C |
11: 70,945,016 (GRCm38) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,062,692 (GRCm38) |
C3837S |
probably damaging |
Het |
| Ogdh |
T |
G |
11: 6,352,126 (GRCm38) |
L850V |
probably damaging |
Het |
| Olfr1131 |
A |
G |
2: 87,629,114 (GRCm38) |
Y217C |
probably damaging |
Het |
| Olfr1293-ps |
A |
G |
2: 111,527,703 (GRCm38) |
I148V |
probably benign |
Het |
| Panx2 |
T |
C |
15: 89,068,539 (GRCm38) |
I411T |
possibly damaging |
Het |
| Papss1 |
T |
A |
3: 131,643,044 (GRCm38) |
M585K |
probably damaging |
Het |
| Pcbp2 |
T |
G |
15: 102,486,021 (GRCm38) |
L180R |
possibly damaging |
Het |
| Pcdha7 |
A |
T |
18: 36,974,566 (GRCm38) |
T215S |
probably benign |
Het |
| Pcdhga4 |
C |
T |
18: 37,685,424 (GRCm38) |
R9C |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,104,970 (GRCm38) |
V687A |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,407,428 (GRCm38) |
|
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,389,126 (GRCm38) |
S241T |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 33,173,275 (GRCm38) |
L35H |
probably damaging |
Het |
| Slc11a1 |
A |
C |
1: 74,384,145 (GRCm38) |
D385A |
probably damaging |
Het |
| Stk31 |
T |
A |
6: 49,469,152 (GRCm38) |
C930S |
probably benign |
Het |
| Syt10 |
T |
A |
15: 89,841,729 (GRCm38) |
Q14L |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,690,231 (GRCm38) |
W1578G |
probably damaging |
Het |
| Triml1 |
C |
T |
8: 43,130,290 (GRCm38) |
A425T |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,432,390 (GRCm38) |
V777I |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,808,579 (GRCm38) |
I208V |
possibly 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 |
|
|
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 |
|
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'- TTATGAAATGAGCTGATTCCGC -3'
(R):5'- ACTCAACCATTACTTGACACATGTG -3'
Sequencing Primer
(F):5'- GAAATGAGCTGATTCCGCCATTTTTC -3'
(R):5'- CCATTACTTGACACATGTGATAAAAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation