Incidental Mutation 'R5464:4930562C15Rik'
| ID |
433183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4930562C15Rik
|
| Ensembl Gene |
ENSMUSG00000022518 |
| Gene Name |
RIKEN cDNA 4930562C15 gene |
| Synonyms |
|
| MMRRC Submission |
042850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5464 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4653280-4685550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4682227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 180
(G180E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100211]
[ENSMUST00000171105]
[ENSMUST00000176394]
[ENSMUST00000176982]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100211
AA Change: G1019E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: G1019E
| 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 |
probably damaging
Transcript: ENSMUST00000171105
AA Change: G180E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: G180E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4795
|
37 |
125 |
1.1e-20 |
PFAM |
|
low complexity region
|
256 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175762
AA Change: G83E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180939
|
| Meta Mutation Damage Score |
0.1994 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
A |
8: 46,958,775 (GRCm39) |
D95E |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts16 |
T |
A |
13: 70,909,868 (GRCm39) |
H895L |
probably benign |
Het |
| Alox12e |
T |
C |
11: 70,208,505 (GRCm39) |
Y483C |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,733,381 (GRCm39) |
F952I |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,033,690 (GRCm39) |
|
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,504,473 (GRCm39) |
G87R |
probably damaging |
Het |
| Flg2 |
C |
A |
3: 93,109,277 (GRCm39) |
T435K |
possibly damaging |
Het |
| Gpatch4 |
T |
C |
3: 87,962,062 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,448,524 (GRCm39) |
M1795K |
probably benign |
Het |
| Ift52 |
T |
C |
2: 162,871,735 (GRCm39) |
V189A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,878,058 (GRCm39) |
D250V |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,622 (GRCm39) |
T474A |
probably benign |
Het |
| Mcub |
T |
C |
3: 129,709,365 (GRCm39) |
E316G |
probably benign |
Het |
| Mettl15 |
C |
T |
2: 109,021,967 (GRCm39) |
V113I |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,063,150 (GRCm39) |
I824F |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,938,992 (GRCm39) |
M270T |
probably damaging |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Or10d4 |
A |
T |
9: 39,581,066 (GRCm39) |
T238S |
probably damaging |
Het |
| Or4ac1-ps1 |
T |
C |
2: 88,370,599 (GRCm39) |
Y58C |
probably null |
Het |
| Or51a25 |
A |
G |
7: 102,373,124 (GRCm39) |
V191A |
possibly damaging |
Het |
| Or51a39 |
T |
C |
7: 102,362,889 (GRCm39) |
T244A |
probably benign |
Het |
| Or51a43 |
C |
A |
7: 103,717,674 (GRCm39) |
R188L |
possibly damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or52a24 |
T |
A |
7: 103,381,396 (GRCm39) |
W88R |
probably damaging |
Het |
| Or5ak23 |
AAGTCTGGAGTC |
AAGTC |
2: 85,245,057 (GRCm39) |
|
probably null |
Het |
| Or6x1 |
T |
C |
9: 40,099,080 (GRCm39) |
I223T |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,197,235 (GRCm39) |
M430V |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,278,176 (GRCm39) |
S243P |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,474,852 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
T |
A |
4: 154,430,601 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
T |
7: 127,533,405 (GRCm39) |
W97R |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,362,047 (GRCm39) |
I112F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,499,868 (GRCm39) |
G1259R |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,337 (GRCm39) |
I416T |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,532,100 (GRCm39) |
R571C |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,851,727 (GRCm39) |
M423V |
probably benign |
Het |
| Serpina3i |
G |
A |
12: 104,234,751 (GRCm39) |
A361T |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,434 (GRCm39) |
D362E |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,622,033 (GRCm39) |
|
probably null |
Het |
| Sgcg |
A |
G |
14: 61,474,304 (GRCm39) |
V113A |
possibly damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,691,008 (GRCm39) |
K74R |
probably damaging |
Het |
| Smco1 |
T |
A |
16: 32,092,694 (GRCm39) |
W122R |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,269 (GRCm39) |
K136E |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,625 (GRCm39) |
N394S |
probably damaging |
Het |
| Uqcrb |
T |
C |
13: 67,048,889 (GRCm39) |
D87G |
probably damaging |
Het |
| Wipf3 |
T |
C |
6: 54,462,308 (GRCm39) |
S173P |
possibly damaging |
Het |
| Zfp473 |
T |
C |
7: 44,382,062 (GRCm39) |
E756G |
probably 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 |
|
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 |
|
R8278:4930562C15Rik
|
UTSW |
16 |
4,668,040 (GRCm39) |
missense |
probably benign |
0.33 |
|
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'- GATACTATCCAGAGCCCTGTGC -3'
(R):5'- TCAGGGTCTCCATTGCCATC -3'
Sequencing Primer
(F):5'- CAGGTCTCCTCGGTGGTAGAG -3'
(R):5'- ATCCCCTTTCCTTGATGCACAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation