Incidental Mutation 'R9685:A130010J15Rik'
| ID |
728777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A130010J15Rik
|
| Ensembl Gene |
ENSMUSG00000079144 |
| Gene Name |
RIKEN cDNA A130010J15 gene |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
192855777-192860145 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 192857065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 139
(R139H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043550]
[ENSMUST00000076521]
[ENSMUST00000110831]
[ENSMUST00000160077]
[ENSMUST00000160822]
[ENSMUST00000161235]
[ENSMUST00000178744]
[ENSMUST00000191613]
[ENSMUST00000192020]
[ENSMUST00000192189]
[ENSMUST00000193307]
[ENSMUST00000194278]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043550
|
| SMART Domains |
Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
486 |
N/A |
INTRINSIC |
|
transmembrane domain
|
487 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076521
|
| SMART Domains |
Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638
| Domain | Start | End | E-Value | Type |
|---|
|
IRF
|
3 |
116 |
1.98e-59 |
SMART |
|
low complexity region
|
135 |
151 |
N/A |
INTRINSIC |
|
Blast:IRF
|
158 |
189 |
6e-8 |
BLAST |
|
IRF-3
|
223 |
407 |
3.92e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110831
AA Change: R139H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: R139H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160077
AA Change: R139H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: R139H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
163 |
6.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160822
AA Change: R139H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: R139H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
15 |
263 |
2.7e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161235
AA Change: R139H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: R139H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178744
AA Change: R139H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: R139H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
263 |
1.4e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191613
|
| SMART Domains |
Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
70 |
7.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192020
|
| SMART Domains |
Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
486 |
N/A |
INTRINSIC |
|
transmembrane domain
|
487 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192189
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193307
|
| SMART Domains |
Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4504
|
13 |
84 |
3.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194278
|
| SMART Domains |
Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
G |
T |
16: 64,586,823 (GRCm39) |
N300K |
possibly damaging |
Het |
| Aanat |
A |
C |
11: 116,487,681 (GRCm39) |
T127P |
possibly damaging |
Het |
| Acp4 |
G |
A |
7: 43,906,733 (GRCm39) |
|
probably benign |
Het |
| Arhgef5 |
T |
G |
6: 43,250,527 (GRCm39) |
I426S |
probably benign |
Het |
| Bcl2a1a |
T |
C |
9: 88,839,185 (GRCm39) |
S28P |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,288,384 (GRCm39) |
S272P |
possibly damaging |
Het |
| Cdk13 |
C |
A |
13: 17,978,542 (GRCm39) |
R232L |
unknown |
Het |
| Clrn2 |
A |
G |
5: 45,611,331 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cnot6l |
A |
G |
5: 96,230,749 (GRCm39) |
L406P |
probably damaging |
Het |
| Cspg4 |
T |
G |
9: 56,797,622 (GRCm39) |
V1362G |
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,639 (GRCm39) |
S939L |
probably benign |
Het |
| Dcaf1 |
C |
T |
9: 106,713,818 (GRCm39) |
T145I |
probably benign |
Het |
| Ddx28 |
T |
C |
8: 106,736,733 (GRCm39) |
S442G |
probably benign |
Het |
| Dnajc3 |
A |
T |
14: 119,209,775 (GRCm39) |
R283S |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,232,087 (GRCm39) |
T307I |
possibly damaging |
Het |
| Elovl5 |
T |
C |
9: 77,868,291 (GRCm39) |
Y68H |
probably damaging |
Het |
| Fam25a |
G |
A |
14: 34,077,266 (GRCm39) |
T17I |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,216,879 (GRCm39) |
E2137G |
probably damaging |
Het |
| Gm10142 |
A |
G |
10: 77,551,762 (GRCm39) |
Q41R |
unknown |
Het |
| Grm1 |
T |
C |
10: 10,564,775 (GRCm39) |
T1178A |
possibly damaging |
Het |
| Hhip |
A |
T |
8: 80,723,363 (GRCm39) |
H430Q |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,478,676 (GRCm39) |
F178L |
probably damaging |
Het |
| Impa1 |
T |
A |
3: 10,393,430 (GRCm39) |
I58L |
probably benign |
Het |
| Irak4 |
T |
A |
15: 94,451,812 (GRCm39) |
V135E |
probably benign |
Het |
| Jup |
A |
C |
11: 100,274,237 (GRCm39) |
L151R |
probably damaging |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,419 (GRCm39) |
N132K |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,664 (GRCm39) |
R863S |
probably benign |
Het |
| Or8k16 |
T |
C |
2: 85,519,866 (GRCm39) |
F31S |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,520 (GRCm39) |
M282L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,124,383 (GRCm39) |
D144G |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,390 (GRCm39) |
S214R |
probably benign |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtca |
T |
A |
3: 116,293,225 (GRCm39) |
R195S |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,771,835 (GRCm39) |
S360R |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,371,194 (GRCm39) |
F293I |
possibly damaging |
Het |
| Snapc1 |
T |
C |
12: 74,017,115 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,032,925 (GRCm39) |
V994A |
probably damaging |
Het |
| Synpo2 |
T |
C |
3: 122,911,366 (GRCm39) |
E93G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,191,341 (GRCm39) |
T985A |
unknown |
Het |
| Vmn1r18 |
T |
C |
6: 57,367,463 (GRCm39) |
I30M |
possibly damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,440,598 (GRCm39) |
V420A |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,081 (GRCm39) |
V251A |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,659,311 (GRCm39) |
I200N |
possibly damaging |
Het |
|
| Other mutations in A130010J15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:A130010J15Rik
|
APN |
1 |
192,857,087 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL00594:A130010J15Rik
|
APN |
1 |
192,857,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2094:A130010J15Rik
|
UTSW |
1 |
192,857,154 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4754:A130010J15Rik
|
UTSW |
1 |
192,856,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:A130010J15Rik
|
UTSW |
1 |
192,856,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6195:A130010J15Rik
|
UTSW |
1 |
192,857,142 (GRCm39) |
splice site |
probably null |
|
|
R6393:A130010J15Rik
|
UTSW |
1 |
192,856,690 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6551:A130010J15Rik
|
UTSW |
1 |
192,856,831 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6809:A130010J15Rik
|
UTSW |
1 |
192,857,089 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8867:A130010J15Rik
|
UTSW |
1 |
192,857,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:A130010J15Rik
|
UTSW |
1 |
192,857,087 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCTCCAAAGTTATCTGGAGG -3'
(R):5'- CAGGGGAGTCATGGTTAAGC -3'
Sequencing Primer
(F):5'- GAGCCAGGACTTCACATTCTTGAG -3'
(R):5'- AAGCAGTTGTCATCTTCACGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation