Incidental Mutation 'R2995:4931406B18Rik'
ID |
257172 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4931406B18Rik
|
Ensembl Gene |
ENSMUSG00000013353 |
Gene Name |
RIKEN cDNA 4931406B18 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R2995 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
43141468-43155364 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43148792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 43
(C43R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131071
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013497]
[ENSMUST00000163474]
[ENSMUST00000163619]
[ENSMUST00000168213]
[ENSMUST00000168883]
[ENSMUST00000171174]
[ENSMUST00000191516]
|
AlphaFold |
A2RSL7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013497
AA Change: C140R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000013497 Gene: ENSMUSG00000013353 AA Change: C140R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
PDB:2ZG3|A
|
24 |
185 |
9e-7 |
PDB |
Blast:IG_like
|
119 |
185 |
3e-19 |
BLAST |
low complexity region
|
186 |
205 |
N/A |
INTRINSIC |
SCOP:d1iray3
|
219 |
297 |
6e-3 |
SMART |
transmembrane domain
|
311 |
333 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163474
|
SMART Domains |
Protein: ENSMUSP00000126619 Gene: ENSMUSG00000013353
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:IG_like
|
23 |
111 |
3e-12 |
BLAST |
SCOP:d1he7a_
|
111 |
203 |
1e-3 |
SMART |
Blast:IG_like
|
125 |
194 |
1e-5 |
BLAST |
transmembrane domain
|
217 |
239 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163619
AA Change: C43R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131071 Gene: ENSMUSG00000013353 AA Change: C43R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
PDB:2ZG3|A
|
17 |
88 |
1e-5 |
PDB |
Blast:IG_like
|
22 |
88 |
2e-21 |
BLAST |
low complexity region
|
89 |
104 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168213
|
SMART Domains |
Protein: ENSMUSP00000129928 Gene: ENSMUSG00000013353
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:IG_like
|
23 |
119 |
2e-13 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168636
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168883
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171174
AA Change: C140R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129888 Gene: ENSMUSG00000013353 AA Change: C140R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Ig_2
|
113 |
216 |
5.6e-3 |
PFAM |
Pfam:Ig_2
|
200 |
297 |
7.7e-3 |
PFAM |
transmembrane domain
|
311 |
333 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191516
AA Change: C140R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139468 Gene: ENSMUSG00000013353 AA Change: C140R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Ig_2
|
113 |
216 |
5.6e-3 |
PFAM |
Pfam:Ig_2
|
200 |
297 |
7.7e-3 |
PFAM |
transmembrane domain
|
311 |
333 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Clpb |
T |
A |
7: 101,428,531 (GRCm39) |
H430Q |
probably damaging |
Het |
Eloa |
G |
T |
4: 135,738,217 (GRCm39) |
H248N |
probably benign |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Lhfpl2 |
A |
G |
13: 94,310,966 (GRCm39) |
T79A |
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,909,204 (GRCm39) |
Y80C |
probably damaging |
Het |
Slc4a3 |
T |
A |
1: 75,529,306 (GRCm39) |
C541* |
probably null |
Het |
Slc4a4 |
A |
T |
5: 89,082,673 (GRCm39) |
E22V |
probably damaging |
Het |
Stard5 |
T |
C |
7: 83,281,951 (GRCm39) |
V36A |
probably damaging |
Het |
Tchh |
CACGCGAGGAACGCGAGGAAC |
CACGCGAGGAAC |
3: 93,355,057 (GRCm39) |
|
probably benign |
Het |
Trpc6 |
G |
T |
9: 8,544,467 (GRCm39) |
G12V |
probably benign |
Het |
|
Other mutations in 4931406B18Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01068:4931406B18Rik
|
APN |
7 |
43,153,599 (GRCm39) |
splice site |
probably benign |
|
IGL01902:4931406B18Rik
|
APN |
7 |
43,147,267 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02616:4931406B18Rik
|
APN |
7 |
43,150,437 (GRCm39) |
splice site |
probably null |
|
IGL02677:4931406B18Rik
|
APN |
7 |
43,150,519 (GRCm39) |
nonsense |
probably null |
|
IGL03030:4931406B18Rik
|
APN |
7 |
43,145,057 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0007:4931406B18Rik
|
UTSW |
7 |
43,147,466 (GRCm39) |
splice site |
probably benign |
|
R0788:4931406B18Rik
|
UTSW |
7 |
43,148,623 (GRCm39) |
missense |
probably damaging |
0.98 |
R1544:4931406B18Rik
|
UTSW |
7 |
43,147,543 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4656:4931406B18Rik
|
UTSW |
7 |
43,150,565 (GRCm39) |
missense |
probably benign |
0.20 |
R5595:4931406B18Rik
|
UTSW |
7 |
43,147,296 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6288:4931406B18Rik
|
UTSW |
7 |
43,147,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R6389:4931406B18Rik
|
UTSW |
7 |
43,147,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6651:4931406B18Rik
|
UTSW |
7 |
43,147,496 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6912:4931406B18Rik
|
UTSW |
7 |
43,150,571 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7254:4931406B18Rik
|
UTSW |
7 |
43,147,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R7615:4931406B18Rik
|
UTSW |
7 |
43,147,273 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8167:4931406B18Rik
|
UTSW |
7 |
43,147,288 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9052:4931406B18Rik
|
UTSW |
7 |
43,147,631 (GRCm39) |
nonsense |
probably null |
|
R9109:4931406B18Rik
|
UTSW |
7 |
43,148,702 (GRCm39) |
missense |
|
|
R9182:4931406B18Rik
|
UTSW |
7 |
43,153,640 (GRCm39) |
missense |
probably damaging |
0.97 |
R9201:4931406B18Rik
|
UTSW |
7 |
43,150,709 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9787:4931406B18Rik
|
UTSW |
7 |
43,150,695 (GRCm39) |
missense |
probably benign |
0.37 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCAGTTGTAGCTTGACCAC -3'
(R):5'- TGGCAATCCCAAGTTCTGTGG -3'
Sequencing Primer
(F):5'- TGACCACTTTACTGCTGGACAAG -3'
(R):5'- CCAAGTTCTGTGGGACCG -3'
|
Posted On |
2015-01-11 |