Incidental Mutation 'R3971:Gm7247'
| ID |
310990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm7247
|
| Ensembl Gene |
ENSMUSG00000068399 |
| Gene Name |
predicted gene 7247 |
| Synonyms |
|
| MMRRC Submission |
040839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R3971 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51601678-51765127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51602841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 59
(Y59C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162998]
|
| AlphaFold |
Q6UY52 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162079
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162998
AA Change: Y59C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
AA Change: Y59C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
C |
T |
8: 60,971,615 (GRCm39) |
P147L |
probably damaging |
Het |
| Apbb1ip |
T |
A |
2: 22,713,506 (GRCm39) |
D120E |
unknown |
Het |
| Atp10b |
A |
G |
11: 43,107,339 (GRCm39) |
D791G |
probably damaging |
Het |
| Aunip |
A |
G |
4: 134,250,780 (GRCm39) |
K242E |
possibly damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,183 (GRCm39) |
E313G |
probably benign |
Het |
| Cd72 |
C |
T |
4: 43,449,491 (GRCm39) |
R275H |
probably damaging |
Het |
| Chrnb1 |
A |
G |
11: 69,683,742 (GRCm39) |
|
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,453,660 (GRCm39) |
E41G |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,815,986 (GRCm39) |
F574L |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,348,637 (GRCm39) |
D284N |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,632,399 (GRCm39) |
H4506R |
probably benign |
Het |
| Fam174b |
T |
C |
7: 73,416,348 (GRCm39) |
V147A |
probably damaging |
Het |
| Glp2r |
T |
A |
11: 67,637,641 (GRCm39) |
D130V |
possibly damaging |
Het |
| Gm18856 |
A |
T |
13: 14,139,433 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,411,514 (GRCm39) |
D1062G |
probably damaging |
Het |
| Ifit2 |
A |
G |
19: 34,551,441 (GRCm39) |
E327G |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,079 (GRCm39) |
S43T |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,557,408 (GRCm39) |
I138K |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,218,857 (GRCm39) |
D193N |
possibly damaging |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,370,987 (GRCm39) |
K189E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,742 (GRCm39) |
N135S |
probably benign |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Psma8 |
A |
G |
18: 14,890,444 (GRCm39) |
K195E |
possibly damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,982 (GRCm39) |
T723A |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,477,567 (GRCm39) |
S485P |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,063,268 (GRCm39) |
L916Q |
possibly damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,971 (GRCm39) |
D719V |
possibly damaging |
Het |
| Synj1 |
A |
G |
16: 90,788,491 (GRCm39) |
S86P |
probably damaging |
Het |
| Tmem130 |
T |
A |
5: 144,692,131 (GRCm39) |
H91L |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,842,562 (GRCm39) |
D288G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps35l |
T |
C |
7: 118,433,022 (GRCm39) |
I585T |
probably damaging |
Het |
| Wac |
T |
C |
18: 7,916,175 (GRCm39) |
V303A |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,932 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp993 |
A |
G |
4: 146,742,089 (GRCm39) |
T138A |
probably benign |
Het |
|
| Other mutations in Gm7247 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Gm7247
|
APN |
14 |
51,760,962 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01776:Gm7247
|
APN |
14 |
51,759,356 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01836:Gm7247
|
APN |
14 |
51,602,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02270:Gm7247
|
APN |
14 |
51,759,341 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02961:Gm7247
|
APN |
14 |
51,602,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Gm7247
|
APN |
14 |
51,760,914 (GRCm39) |
missense |
probably benign |
|
|
R0054:Gm7247
|
UTSW |
14 |
51,807,057 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0413:Gm7247
|
UTSW |
14 |
51,760,929 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1143:Gm7247
|
UTSW |
14 |
51,760,875 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2018:Gm7247
|
UTSW |
14 |
51,602,804 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2019:Gm7247
|
UTSW |
14 |
51,602,804 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2117:Gm7247
|
UTSW |
14 |
51,602,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4649:Gm7247
|
UTSW |
14 |
51,807,051 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5109:Gm7247
|
UTSW |
14 |
51,602,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5773:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5775:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5776:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5994:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5995:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5996:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6008:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6009:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6010:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6011:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6193:Gm7247
|
UTSW |
14 |
51,759,299 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6986:Gm7247
|
UTSW |
14 |
51,602,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7226:Gm7247
|
UTSW |
14 |
51,602,808 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7331:Gm7247
|
UTSW |
14 |
51,601,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8878:Gm7247
|
UTSW |
14 |
51,666,210 (GRCm39) |
intron |
probably benign |
|
|
RF021:Gm7247
|
UTSW |
14 |
51,601,781 (GRCm39) |
small deletion |
probably benign |
|
|
RF046:Gm7247
|
UTSW |
14 |
51,601,781 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCTTCTCTTTGGGACTCAG -3'
(R):5'- GGTTGACCATAGAACACACAGC -3'
Sequencing Primer
(F):5'- AACCTTCTCTTTGGGACTCAGAATGG -3'
(R):5'- TCTCATCCAGCAATTTAACAACTGTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation