Incidental Mutation 'R4237:6820408C15Rik'
| ID |
321153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
6820408C15Rik
|
| Ensembl Gene |
ENSMUSG00000032680 |
| Gene Name |
RIKEN cDNA 6820408C15 gene |
| Synonyms |
|
| MMRRC Submission |
041054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
152257507-152286250 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 152270873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 32
(T32I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039961]
[ENSMUST00000128737]
[ENSMUST00000153713]
|
| AlphaFold |
Q8BJX2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039961
AA Change: T32I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680
AA Change: T32I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4618
|
96 |
353 |
4.1e-105 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128737
AA Change: T32I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117627
Gene: ENSMUSG00000032680
AA Change: T32I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4618
|
97 |
158 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000153713
|
| SMART Domains |
Protein: ENSMUSP00000120724
Gene: ENSMUSG00000032680
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0821 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,384,188 (GRCm39) |
K3880R |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,979,147 (GRCm39) |
L144F |
probably benign |
Het |
| Antxr2 |
A |
T |
5: 98,086,266 (GRCm39) |
I447N |
probably damaging |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,507,324 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,695,487 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Galnt11 |
G |
A |
5: 25,470,258 (GRCm39) |
R569Q |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,604 (GRCm39) |
N326S |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,216,846 (GRCm39) |
A181V |
unknown |
Het |
| Lrrc37a |
G |
A |
11: 103,393,115 (GRCm39) |
T770I |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,536 (GRCm39) |
N177S |
probably damaging |
Het |
| Or7g32 |
C |
T |
9: 19,388,893 (GRCm39) |
V215I |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,805,170 (GRCm39) |
T181A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,752 (GRCm39) |
N128S |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,876,546 (GRCm39) |
P155L |
probably damaging |
Het |
| Rad54l |
A |
G |
4: 115,956,646 (GRCm39) |
V500A |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 112,034,059 (GRCm39) |
R1334* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,761,838 (GRCm39) |
H268Q |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,740 (GRCm39) |
I187L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,486,802 (GRCm39) |
R160* |
probably null |
Het |
| Wnt5a |
T |
C |
14: 28,244,823 (GRCm39) |
C357R |
probably damaging |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
Het |
| Zfp184 |
G |
A |
13: 22,142,948 (GRCm39) |
R218H |
probably damaging |
Het |
|
| Other mutations in 6820408C15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:6820408C15Rik
|
APN |
2 |
152,284,307 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01986:6820408C15Rik
|
APN |
2 |
152,282,956 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02153:6820408C15Rik
|
APN |
2 |
152,283,161 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02178:6820408C15Rik
|
APN |
2 |
152,269,921 (GRCm39) |
splice site |
probably benign |
|
|
IGL03339:6820408C15Rik
|
APN |
2 |
152,284,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0468:6820408C15Rik
|
UTSW |
2 |
152,283,186 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1624:6820408C15Rik
|
UTSW |
2 |
152,276,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1642:6820408C15Rik
|
UTSW |
2 |
152,282,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:6820408C15Rik
|
UTSW |
2 |
152,270,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3109:6820408C15Rik
|
UTSW |
2 |
152,284,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:6820408C15Rik
|
UTSW |
2 |
152,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:6820408C15Rik
|
UTSW |
2 |
152,282,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3875:6820408C15Rik
|
UTSW |
2 |
152,276,000 (GRCm39) |
missense |
probably benign |
|
|
R4746:6820408C15Rik
|
UTSW |
2 |
152,282,685 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4957:6820408C15Rik
|
UTSW |
2 |
152,286,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4959:6820408C15Rik
|
UTSW |
2 |
152,282,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4973:6820408C15Rik
|
UTSW |
2 |
152,282,808 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5261:6820408C15Rik
|
UTSW |
2 |
152,282,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:6820408C15Rik
|
UTSW |
2 |
152,282,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5971:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6138:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:6820408C15Rik
|
UTSW |
2 |
152,269,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6379:6820408C15Rik
|
UTSW |
2 |
152,269,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6642:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:6820408C15Rik
|
UTSW |
2 |
152,282,975 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8083:6820408C15Rik
|
UTSW |
2 |
152,282,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8367:6820408C15Rik
|
UTSW |
2 |
152,284,417 (GRCm39) |
splice site |
probably null |
|
|
R8534:6820408C15Rik
|
UTSW |
2 |
152,283,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9567:6820408C15Rik
|
UTSW |
2 |
152,270,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U15987:6820408C15Rik
|
UTSW |
2 |
152,282,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACTACTGCAGCCTTTTC -3'
(R):5'- TTGTCACACCAGTAAGCCTACC -3'
Sequencing Primer
(F):5'- TTCTTGCACCAACTCAGGGAG -3'
(R):5'- CCAGTAAGCCTACCATAATATGAATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation