Incidental Mutation 'R8278:4930562C15Rik'
ID |
638088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930562C15Rik
|
Ensembl Gene |
ENSMUSG00000022518 |
Gene Name |
RIKEN cDNA 4930562C15 gene |
Synonyms |
|
MMRRC Submission |
067701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R8278 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
4653280-4685550 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4668040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 477
(Q477L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100211]
[ENSMUST00000175836]
[ENSMUST00000177042]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100211
AA Change: Q477L
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000097784 Gene: ENSMUSG00000022518 AA Change: Q477L
Domain | Start | End | E-Value | Type |
coiled coil region
|
74 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
181 |
211 |
N/A |
INTRINSIC |
internal_repeat_1
|
289 |
315 |
2.54e-5 |
PROSPERO |
internal_repeat_1
|
314 |
341 |
2.54e-5 |
PROSPERO |
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
low complexity region
|
573 |
604 |
N/A |
INTRINSIC |
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
Pfam:DUF4795
|
745 |
960 |
1.7e-46 |
PFAM |
low complexity region
|
1095 |
1109 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1125 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175836
AA Change: Q260L
|
SMART Domains |
Protein: ENSMUSP00000135532 Gene: ENSMUSG00000022518 AA Change: Q260L
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
72 |
98 |
1.04e-6 |
PROSPERO |
internal_repeat_1
|
97 |
124 |
1.04e-6 |
PROSPERO |
low complexity region
|
143 |
160 |
N/A |
INTRINSIC |
low complexity region
|
185 |
207 |
N/A |
INTRINSIC |
low complexity region
|
235 |
252 |
N/A |
INTRINSIC |
internal_repeat_2
|
253 |
306 |
2.47e-5 |
PROSPERO |
internal_repeat_2
|
297 |
351 |
2.47e-5 |
PROSPERO |
low complexity region
|
356 |
387 |
N/A |
INTRINSIC |
low complexity region
|
399 |
410 |
N/A |
INTRINSIC |
low complexity region
|
413 |
430 |
N/A |
INTRINSIC |
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
coiled coil region
|
564 |
582 |
N/A |
INTRINSIC |
low complexity region
|
590 |
601 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177042
AA Change: Q477L
|
SMART Domains |
Protein: ENSMUSP00000135160 Gene: ENSMUSG00000022518 AA Change: Q477L
Domain | Start | End | E-Value | Type |
coiled coil region
|
74 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
181 |
211 |
N/A |
INTRINSIC |
internal_repeat_1
|
289 |
315 |
2.39e-6 |
PROSPERO |
internal_repeat_1
|
314 |
341 |
2.39e-6 |
PROSPERO |
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
internal_repeat_2
|
470 |
523 |
5.51e-5 |
PROSPERO |
internal_repeat_2
|
514 |
568 |
5.51e-5 |
PROSPERO |
low complexity region
|
573 |
604 |
N/A |
INTRINSIC |
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
coiled coil region
|
781 |
799 |
N/A |
INTRINSIC |
low complexity region
|
807 |
818 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180566
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
T |
1: 165,330,857 (GRCm39) |
D40V |
probably damaging |
Het |
Cab39l |
T |
C |
14: 59,776,562 (GRCm39) |
Y248H |
probably damaging |
Het |
Casr |
G |
T |
16: 36,336,011 (GRCm39) |
D99E |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,107 (GRCm39) |
E364G |
probably benign |
Het |
Cep104 |
C |
T |
4: 154,068,122 (GRCm39) |
T189I |
possibly damaging |
Het |
Cfap418 |
T |
A |
4: 10,882,474 (GRCm39) |
|
probably null |
Het |
Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
Chit1 |
G |
A |
1: 134,078,332 (GRCm39) |
R380Q |
probably benign |
Het |
Cpne2 |
A |
G |
8: 95,281,316 (GRCm39) |
K174R |
probably damaging |
Het |
Dchs2 |
T |
A |
3: 83,178,310 (GRCm39) |
I1121N |
probably damaging |
Het |
Fgf6 |
A |
T |
6: 126,992,781 (GRCm39) |
Y78F |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,429,832 (GRCm39) |
N320K |
probably benign |
Het |
Heatr3 |
A |
T |
8: 88,883,361 (GRCm39) |
N398I |
possibly damaging |
Het |
Hrh4 |
T |
C |
18: 13,140,284 (GRCm39) |
S60P |
probably damaging |
Het |
Ikbip |
A |
G |
10: 90,932,190 (GRCm39) |
H278R |
probably benign |
Het |
Jmy |
A |
T |
13: 93,601,224 (GRCm39) |
I394N |
probably damaging |
Het |
Klhl8 |
T |
C |
5: 104,022,107 (GRCm39) |
E314G |
probably benign |
Het |
Lhx9 |
A |
T |
1: 138,766,324 (GRCm39) |
C164S |
probably damaging |
Het |
Loxl3 |
G |
T |
6: 83,025,697 (GRCm39) |
G352C |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,928,432 (GRCm39) |
F1232S |
probably benign |
Het |
Mpnd |
A |
G |
17: 56,319,469 (GRCm39) |
T311A |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,444,025 (GRCm39) |
D132E |
probably benign |
Het |
Nck2 |
T |
C |
1: 43,593,740 (GRCm39) |
S316P |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,955,509 (GRCm39) |
S348G |
probably damaging |
Het |
Nyap1 |
C |
T |
5: 137,730,077 (GRCm39) |
R790H |
probably damaging |
Het |
Or5b124 |
C |
T |
19: 13,610,958 (GRCm39) |
T161I |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,094,736 (GRCm39) |
V507I |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,375,995 (GRCm39) |
H1380R |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,529,430 (GRCm39) |
V763I |
probably benign |
Het |
Pnma8b |
G |
T |
7: 16,680,263 (GRCm39) |
V416L |
probably damaging |
Het |
Prkn |
A |
T |
17: 12,269,609 (GRCm39) |
N421Y |
probably benign |
Het |
Prpf4 |
T |
C |
4: 62,333,493 (GRCm39) |
|
probably null |
Het |
Psmb5 |
C |
T |
14: 54,855,342 (GRCm39) |
G36D |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,239 (GRCm39) |
S571P |
possibly damaging |
Het |
Rap1gap |
A |
C |
4: 137,444,748 (GRCm39) |
S254R |
probably damaging |
Het |
Rufy2 |
A |
T |
10: 62,843,472 (GRCm39) |
D492V |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,610,392 (GRCm39) |
E4145* |
probably null |
Het |
Sgsm1 |
A |
G |
5: 113,407,958 (GRCm39) |
F898L |
probably damaging |
Het |
Slc26a9 |
C |
A |
1: 131,689,514 (GRCm39) |
A487D |
possibly damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,890 (GRCm39) |
|
probably null |
Het |
Smad9 |
A |
T |
3: 54,696,687 (GRCm39) |
T251S |
probably benign |
Het |
Socs3 |
A |
T |
11: 117,858,478 (GRCm39) |
C193* |
probably null |
Het |
Sox6 |
T |
A |
7: 115,076,199 (GRCm39) |
D813V |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,929,361 (GRCm39) |
L65* |
probably null |
Het |
Taf6 |
G |
A |
5: 138,178,097 (GRCm39) |
A468V |
probably benign |
Het |
Tmem71 |
T |
C |
15: 66,426,961 (GRCm39) |
D78G |
probably damaging |
Het |
Tob2 |
T |
C |
15: 81,735,288 (GRCm39) |
N227S |
probably benign |
Het |
Trim34a |
C |
A |
7: 103,898,623 (GRCm39) |
Q180K |
probably damaging |
Het |
Ugt1a9 |
T |
C |
1: 87,999,378 (GRCm39) |
L276P |
possibly damaging |
Het |
Wdr33 |
G |
A |
18: 31,960,405 (GRCm39) |
R23Q |
possibly damaging |
Het |
Wnt7b |
T |
G |
15: 85,427,887 (GRCm39) |
N189H |
|
Het |
Zfp609 |
G |
A |
9: 65,604,804 (GRCm39) |
A1308V |
possibly damaging |
Het |
|
Other mutations in 4930562C15Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00936:4930562C15Rik
|
APN |
16 |
4,682,510 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01610:4930562C15Rik
|
APN |
16 |
4,669,429 (GRCm39) |
splice site |
probably benign |
|
IGL02869:4930562C15Rik
|
APN |
16 |
4,685,323 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03242:4930562C15Rik
|
APN |
16 |
4,667,189 (GRCm39) |
missense |
unknown |
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
R0083:4930562C15Rik
|
UTSW |
16 |
4,667,406 (GRCm39) |
missense |
unknown |
|
R0565:4930562C15Rik
|
UTSW |
16 |
4,682,200 (GRCm39) |
missense |
probably benign |
0.22 |
R0630:4930562C15Rik
|
UTSW |
16 |
4,668,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0734:4930562C15Rik
|
UTSW |
16 |
4,668,198 (GRCm39) |
missense |
probably benign |
0.01 |
R1200:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R1738:4930562C15Rik
|
UTSW |
16 |
4,682,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:4930562C15Rik
|
UTSW |
16 |
4,669,422 (GRCm39) |
splice site |
probably null |
|
R1945:4930562C15Rik
|
UTSW |
16 |
4,653,549 (GRCm39) |
missense |
unknown |
|
R2132:4930562C15Rik
|
UTSW |
16 |
4,653,835 (GRCm39) |
missense |
unknown |
|
R2445:4930562C15Rik
|
UTSW |
16 |
4,682,261 (GRCm39) |
splice site |
probably null |
|
R2696:4930562C15Rik
|
UTSW |
16 |
4,668,228 (GRCm39) |
missense |
probably benign |
0.04 |
R4729:4930562C15Rik
|
UTSW |
16 |
4,667,187 (GRCm39) |
missense |
unknown |
|
R4779:4930562C15Rik
|
UTSW |
16 |
4,667,613 (GRCm39) |
missense |
unknown |
|
R4806:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R4808:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R4876:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R4931:4930562C15Rik
|
UTSW |
16 |
4,678,910 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4956:4930562C15Rik
|
UTSW |
16 |
4,672,816 (GRCm39) |
missense |
probably damaging |
0.99 |
R5085:4930562C15Rik
|
UTSW |
16 |
4,653,837 (GRCm39) |
nonsense |
probably null |
|
R5203:4930562C15Rik
|
UTSW |
16 |
4,653,462 (GRCm39) |
missense |
unknown |
|
R5229:4930562C15Rik
|
UTSW |
16 |
4,667,915 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5461:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R5462:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:4930562C15Rik
|
UTSW |
16 |
4,682,143 (GRCm39) |
missense |
probably benign |
0.01 |
R6054:4930562C15Rik
|
UTSW |
16 |
4,653,729 (GRCm39) |
missense |
unknown |
|
R6405:4930562C15Rik
|
UTSW |
16 |
4,669,742 (GRCm39) |
missense |
probably damaging |
0.97 |
R6859:4930562C15Rik
|
UTSW |
16 |
4,669,799 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7124:4930562C15Rik
|
UTSW |
16 |
4,682,196 (GRCm39) |
missense |
probably benign |
0.02 |
R7139:4930562C15Rik
|
UTSW |
16 |
4,668,048 (GRCm39) |
missense |
probably benign |
0.00 |
R7182:4930562C15Rik
|
UTSW |
16 |
4,667,578 (GRCm39) |
missense |
unknown |
|
R7219:4930562C15Rik
|
UTSW |
16 |
4,667,508 (GRCm39) |
missense |
unknown |
|
R7366:4930562C15Rik
|
UTSW |
16 |
4,653,633 (GRCm39) |
missense |
unknown |
|
R7592:4930562C15Rik
|
UTSW |
16 |
4,667,138 (GRCm39) |
missense |
unknown |
|
R7759:4930562C15Rik
|
UTSW |
16 |
4,682,514 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:4930562C15Rik
|
UTSW |
16 |
4,682,175 (GRCm39) |
missense |
probably benign |
0.01 |
R7873:4930562C15Rik
|
UTSW |
16 |
4,684,091 (GRCm39) |
missense |
probably benign |
|
R7916:4930562C15Rik
|
UTSW |
16 |
4,682,454 (GRCm39) |
nonsense |
probably null |
|
R8093:4930562C15Rik
|
UTSW |
16 |
4,669,368 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8169:4930562C15Rik
|
UTSW |
16 |
4,684,082 (GRCm39) |
missense |
probably benign |
0.00 |
R8372:4930562C15Rik
|
UTSW |
16 |
4,682,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R8493:4930562C15Rik
|
UTSW |
16 |
4,653,453 (GRCm39) |
start codon destroyed |
unknown |
|
R8549:4930562C15Rik
|
UTSW |
16 |
4,681,061 (GRCm39) |
critical splice donor site |
probably null |
|
R8947:4930562C15Rik
|
UTSW |
16 |
4,665,292 (GRCm39) |
missense |
unknown |
|
R9137:4930562C15Rik
|
UTSW |
16 |
4,685,312 (GRCm39) |
missense |
probably benign |
|
R9339:4930562C15Rik
|
UTSW |
16 |
4,667,521 (GRCm39) |
missense |
unknown |
|
R9422:4930562C15Rik
|
UTSW |
16 |
4,667,153 (GRCm39) |
missense |
|
|
R9561:4930562C15Rik
|
UTSW |
16 |
4,680,980 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9618:4930562C15Rik
|
UTSW |
16 |
4,667,418 (GRCm39) |
missense |
unknown |
|
R9747:4930562C15Rik
|
UTSW |
16 |
4,668,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R9773:4930562C15Rik
|
UTSW |
16 |
4,668,057 (GRCm39) |
missense |
possibly damaging |
0.86 |
X0028:4930562C15Rik
|
UTSW |
16 |
4,685,231 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:4930562C15Rik
|
UTSW |
16 |
4,684,112 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGTCCACTTCAGCCTATGGG -3'
(R):5'- TGACTTCAGGAGCCTCATCTTTG -3'
Sequencing Primer
(F):5'- CCCAGTGGTACCCAAATA -3'
(R):5'- AGGAGCCTCATCTTTGGTGCC -3'
|
Posted On |
2020-07-28 |