Incidental Mutation 'R5492:A830018L16Rik'
| ID |
432101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A830018L16Rik
|
| Ensembl Gene |
ENSMUSG00000057715 |
| Gene Name |
RIKEN cDNA A830018L16 gene |
| Synonyms |
|
| MMRRC Submission |
043053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
11484329-12046125 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 11615431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 135
(R135C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048613]
[ENSMUST00000135014]
[ENSMUST00000137824]
[ENSMUST00000141512]
[ENSMUST00000171690]
[ENSMUST00000179089]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048613
AA Change: R135C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043857
Gene: ENSMUSG00000057715
AA Change: R135C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135014
AA Change: R135C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119143
Gene: ENSMUSG00000057715
AA Change: R135C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137824
AA Change: R135C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117421
Gene: ENSMUSG00000057715
AA Change: R135C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141339
AA Change: R31C
|
| SMART Domains |
Protein: ENSMUSP00000121311
Gene: ENSMUSG00000057715
AA Change: R31C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
110 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141512
AA Change: R135C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139635
Gene: ENSMUSG00000057715
AA Change: R135C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171690
AA Change: R135C
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132334
Gene: ENSMUSG00000057715
AA Change: R135C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
248 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179089
AA Change: R135C
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.1447 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,073,176 (GRCm39) |
Y328H |
probably benign |
Het |
| Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
| Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
| Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
| Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
| Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
| Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
| Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
| Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
| Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
| Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
| Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
| Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
| Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
| Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
| Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
| Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
| Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
| Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
| Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
| Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in A830018L16Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:A830018L16Rik
|
APN |
1 |
11,818,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01916:A830018L16Rik
|
APN |
1 |
11,818,331 (GRCm39) |
splice site |
probably benign |
|
|
IGL02040:A830018L16Rik
|
APN |
1 |
12,003,822 (GRCm39) |
intron |
probably benign |
|
|
IGL02432:A830018L16Rik
|
APN |
1 |
11,818,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02693:A830018L16Rik
|
APN |
1 |
11,666,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02736:A830018L16Rik
|
APN |
1 |
12,042,275 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03293:A830018L16Rik
|
APN |
1 |
11,615,375 (GRCm39) |
splice site |
probably null |
|
|
IGL02835:A830018L16Rik
|
UTSW |
1 |
12,042,279 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1203:A830018L16Rik
|
UTSW |
1 |
11,588,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:A830018L16Rik
|
UTSW |
1 |
11,868,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1548:A830018L16Rik
|
UTSW |
1 |
11,588,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1644:A830018L16Rik
|
UTSW |
1 |
11,484,814 (GRCm39) |
nonsense |
probably null |
|
|
R1855:A830018L16Rik
|
UTSW |
1 |
11,818,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:A830018L16Rik
|
UTSW |
1 |
12,045,177 (GRCm39) |
missense |
unknown |
|
|
R2265:A830018L16Rik
|
UTSW |
1 |
12,042,328 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2296:A830018L16Rik
|
UTSW |
1 |
11,582,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2484:A830018L16Rik
|
UTSW |
1 |
11,666,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:A830018L16Rik
|
UTSW |
1 |
11,615,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:A830018L16Rik
|
UTSW |
1 |
11,588,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:A830018L16Rik
|
UTSW |
1 |
11,658,778 (GRCm39) |
splice site |
probably benign |
|
|
R4305:A830018L16Rik
|
UTSW |
1 |
12,042,300 (GRCm39) |
nonsense |
probably null |
|
|
R4306:A830018L16Rik
|
UTSW |
1 |
12,042,300 (GRCm39) |
nonsense |
probably null |
|
|
R4307:A830018L16Rik
|
UTSW |
1 |
12,042,300 (GRCm39) |
nonsense |
probably null |
|
|
R4558:A830018L16Rik
|
UTSW |
1 |
12,042,300 (GRCm39) |
nonsense |
probably null |
|
|
R4598:A830018L16Rik
|
UTSW |
1 |
11,818,188 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4652:A830018L16Rik
|
UTSW |
1 |
11,607,566 (GRCm39) |
intron |
probably benign |
|
|
R5493:A830018L16Rik
|
UTSW |
1 |
11,615,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5802:A830018L16Rik
|
UTSW |
1 |
12,021,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:A830018L16Rik
|
UTSW |
1 |
11,582,140 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6082:A830018L16Rik
|
UTSW |
1 |
11,868,752 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6376:A830018L16Rik
|
UTSW |
1 |
11,868,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6453:A830018L16Rik
|
UTSW |
1 |
11,868,782 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6757:A830018L16Rik
|
UTSW |
1 |
11,666,558 (GRCm39) |
makesense |
probably null |
|
|
R6833:A830018L16Rik
|
UTSW |
1 |
11,658,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:A830018L16Rik
|
UTSW |
1 |
11,484,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7272:A830018L16Rik
|
UTSW |
1 |
11,658,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7566:A830018L16Rik
|
UTSW |
1 |
12,021,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:A830018L16Rik
|
UTSW |
1 |
12,042,323 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8004:A830018L16Rik
|
UTSW |
1 |
12,021,286 (GRCm39) |
splice site |
probably benign |
|
|
R8754:A830018L16Rik
|
UTSW |
1 |
11,615,472 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8944:A830018L16Rik
|
UTSW |
1 |
11,484,706 (GRCm39) |
unclassified |
probably benign |
|
|
R8993:A830018L16Rik
|
UTSW |
1 |
11,615,491 (GRCm39) |
nonsense |
probably null |
|
|
R8997:A830018L16Rik
|
UTSW |
1 |
11,615,491 (GRCm39) |
nonsense |
probably null |
|
|
R9098:A830018L16Rik
|
UTSW |
1 |
11,633,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9640:A830018L16Rik
|
UTSW |
1 |
12,021,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9704:A830018L16Rik
|
UTSW |
1 |
11,588,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9705:A830018L16Rik
|
UTSW |
1 |
11,588,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:A830018L16Rik
|
UTSW |
1 |
11,588,849 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCCCCTTAAGTCATAGAAG -3'
(R):5'- AAGGCTTGCTCCCTTTGCAC -3'
Sequencing Primer
(F):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'
(R):5'- TGCACTCCTTAACCTTACACAATG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation