Incidental Mutation 'R7499:Gm5114'
| ID |
581376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5114
|
| Ensembl Gene |
ENSMUSG00000053742 |
| Gene Name |
predicted gene 5114 |
| Synonyms |
|
| MMRRC Submission |
045572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
39056718-39062584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39058489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 377
(C377R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108017]
|
| AlphaFold |
W4VSN8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108017
AA Change: C377R
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: C377R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
435 |
580 |
2.5e-65 |
PFAM |
|
low complexity region
|
709 |
726 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,907,186 (GRCm39) |
D180V |
possibly damaging |
Het |
| Abat |
T |
C |
16: 8,421,618 (GRCm39) |
|
probably null |
Het |
| Ankfn1 |
G |
A |
11: 89,282,576 (GRCm39) |
T357I |
probably benign |
Het |
| Armc3 |
C |
T |
2: 19,290,790 (GRCm39) |
T423I |
probably benign |
Het |
| Asb6 |
T |
C |
2: 30,714,472 (GRCm39) |
T213A |
possibly damaging |
Het |
| Atp11a |
T |
C |
8: 12,882,575 (GRCm39) |
C488R |
probably benign |
Het |
| Bag6 |
G |
A |
17: 35,363,368 (GRCm39) |
R736H |
probably benign |
Het |
| Bche |
G |
A |
3: 73,609,231 (GRCm39) |
P65L |
probably damaging |
Het |
| Cela3a |
T |
A |
4: 137,132,950 (GRCm39) |
I101F |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,602,028 (GRCm39) |
D359E |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,299,549 (GRCm39) |
V314A |
probably benign |
Het |
| Clpb |
T |
C |
7: 101,371,935 (GRCm39) |
F224L |
possibly damaging |
Het |
| Coro2a |
T |
C |
4: 46,539,188 (GRCm39) |
K527R |
probably benign |
Het |
| Cpa5 |
A |
G |
6: 30,630,856 (GRCm39) |
T373A |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,937,149 (GRCm39) |
|
probably null |
Het |
| Dlx5 |
G |
A |
6: 6,878,340 (GRCm39) |
S230F |
possibly damaging |
Het |
| Dlx5 |
A |
C |
6: 6,878,341 (GRCm39) |
S230A |
probably benign |
Het |
| Dmc1 |
G |
T |
15: 79,486,621 (GRCm39) |
S11* |
probably null |
Het |
| Dnah1 |
G |
A |
14: 31,037,079 (GRCm39) |
Q256* |
probably null |
Het |
| Dnah3 |
A |
G |
7: 119,660,135 (GRCm39) |
F846L |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,302,596 (GRCm39) |
I1618F |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,279,538 (GRCm39) |
V267A |
possibly damaging |
Het |
| Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
| Frem1 |
T |
C |
4: 82,924,007 (GRCm39) |
I317M |
probably damaging |
Het |
| G6pc1 |
C |
A |
11: 101,267,520 (GRCm39) |
Y323* |
probably null |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Hmbox1 |
A |
G |
14: 65,134,126 (GRCm39) |
V158A |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,396,227 (GRCm39) |
R340G |
unknown |
Het |
| Ifi206 |
T |
A |
1: 173,309,607 (GRCm39) |
I130F |
|
Het |
| Ifnb1 |
T |
C |
4: 88,440,911 (GRCm39) |
N34S |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,323,702 (GRCm39) |
K283E |
probably damaging |
Het |
| Maf |
T |
C |
8: 116,419,920 (GRCm39) |
D374G |
probably benign |
Het |
| Mettl14 |
A |
G |
3: 123,168,503 (GRCm39) |
I179T |
probably benign |
Het |
| Mpped1 |
G |
A |
15: 83,684,251 (GRCm39) |
R91H |
probably damaging |
Het |
| Nop2 |
C |
A |
6: 125,121,171 (GRCm39) |
P651Q |
possibly damaging |
Het |
| Or5p62 |
A |
G |
7: 107,771,007 (GRCm39) |
*315Q |
probably null |
Het |
| Phkg1 |
G |
A |
5: 129,902,109 (GRCm39) |
Q89* |
probably null |
Het |
| Phykpl |
T |
A |
11: 51,482,285 (GRCm39) |
V133E |
probably damaging |
Het |
| Polr3gl |
A |
T |
3: 96,487,137 (GRCm39) |
Y183N |
probably benign |
Het |
| Rab13 |
A |
G |
3: 90,132,840 (GRCm39) |
T187A |
probably benign |
Het |
| Ripor2 |
A |
G |
13: 24,877,755 (GRCm39) |
M252V |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,882,725 (GRCm39) |
N186S |
probably benign |
Het |
| Serpinb5 |
T |
C |
1: 106,800,119 (GRCm39) |
|
probably null |
Het |
| Serpine3 |
G |
A |
14: 62,902,476 (GRCm39) |
W29* |
probably null |
Het |
| Sh2b3 |
T |
C |
5: 121,956,536 (GRCm39) |
R382G |
probably damaging |
Het |
| Slc66a1 |
T |
A |
4: 139,033,823 (GRCm39) |
D32V |
probably damaging |
Het |
| Slc7a5 |
A |
G |
8: 122,610,461 (GRCm39) |
L451P |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,208,257 (GRCm39) |
|
probably null |
Het |
| Tep1 |
G |
A |
14: 51,091,047 (GRCm39) |
A695V |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,684,743 (GRCm39) |
V857A |
possibly damaging |
Het |
| Trdn |
A |
T |
10: 33,072,097 (GRCm39) |
M255L |
probably benign |
Het |
| Tsc22d4 |
G |
A |
5: 137,745,985 (GRCm39) |
S203N |
probably benign |
Het |
| Tsfm |
T |
C |
10: 126,858,417 (GRCm39) |
E316G |
possibly damaging |
Het |
| Tvp23b |
T |
C |
11: 62,770,289 (GRCm39) |
|
probably benign |
Het |
| Vgf |
C |
A |
5: 137,061,099 (GRCm39) |
D420E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,618 (GRCm39) |
P854S |
probably benign |
Het |
| Zfp831 |
T |
C |
2: 174,485,816 (GRCm39) |
S164P |
possibly damaging |
Het |
|
| Other mutations in Gm5114 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Gm5114
|
APN |
7 |
39,060,071 (GRCm39) |
splice site |
probably benign |
|
|
IGL01295:Gm5114
|
APN |
7 |
39,057,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Gm5114
|
APN |
7 |
39,058,531 (GRCm39) |
missense |
probably benign |
|
|
IGL01633:Gm5114
|
APN |
7 |
39,057,490 (GRCm39) |
missense |
probably benign |
|
|
IGL01634:Gm5114
|
APN |
7 |
39,058,071 (GRCm39) |
missense |
probably benign |
|
|
IGL02072:Gm5114
|
APN |
7 |
39,060,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gm5114
|
UTSW |
7 |
39,060,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4304:Gm5114
|
UTSW |
7 |
39,060,529 (GRCm39) |
missense |
probably benign |
|
|
R0034:Gm5114
|
UTSW |
7 |
39,058,282 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0127:Gm5114
|
UTSW |
7 |
39,057,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0328:Gm5114
|
UTSW |
7 |
39,057,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Gm5114
|
UTSW |
7 |
39,058,233 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0693:Gm5114
|
UTSW |
7 |
39,058,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1006:Gm5114
|
UTSW |
7 |
39,058,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Gm5114
|
UTSW |
7 |
39,058,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Gm5114
|
UTSW |
7 |
39,058,621 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3834:Gm5114
|
UTSW |
7 |
39,058,161 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4320:Gm5114
|
UTSW |
7 |
39,057,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Gm5114
|
UTSW |
7 |
39,057,792 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5443:Gm5114
|
UTSW |
7 |
39,058,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5471:Gm5114
|
UTSW |
7 |
39,058,534 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Gm5114
|
UTSW |
7 |
39,060,700 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6129:Gm5114
|
UTSW |
7 |
39,058,024 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6234:Gm5114
|
UTSW |
7 |
39,058,768 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6326:Gm5114
|
UTSW |
7 |
39,057,579 (GRCm39) |
missense |
probably benign |
|
|
R6443:Gm5114
|
UTSW |
7 |
39,057,141 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6530:Gm5114
|
UTSW |
7 |
39,057,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6743:Gm5114
|
UTSW |
7 |
39,057,997 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6770:Gm5114
|
UTSW |
7 |
39,057,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6885:Gm5114
|
UTSW |
7 |
39,057,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6980:Gm5114
|
UTSW |
7 |
39,058,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7100:Gm5114
|
UTSW |
7 |
39,057,708 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7215:Gm5114
|
UTSW |
7 |
39,060,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7254:Gm5114
|
UTSW |
7 |
39,058,390 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7343:Gm5114
|
UTSW |
7 |
39,058,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7366:Gm5114
|
UTSW |
7 |
39,058,768 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7474:Gm5114
|
UTSW |
7 |
39,057,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8022:Gm5114
|
UTSW |
7 |
39,058,800 (GRCm39) |
missense |
probably benign |
|
|
R8121:Gm5114
|
UTSW |
7 |
39,057,552 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8201:Gm5114
|
UTSW |
7 |
39,060,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8212:Gm5114
|
UTSW |
7 |
39,060,676 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8321:Gm5114
|
UTSW |
7 |
39,060,273 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8725:Gm5114
|
UTSW |
7 |
39,060,657 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8752:Gm5114
|
UTSW |
7 |
39,057,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8891:Gm5114
|
UTSW |
7 |
39,057,718 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8934:Gm5114
|
UTSW |
7 |
39,060,553 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8969:Gm5114
|
UTSW |
7 |
39,058,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Gm5114
|
UTSW |
7 |
39,060,486 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9419:Gm5114
|
UTSW |
7 |
39,057,540 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9453:Gm5114
|
UTSW |
7 |
39,058,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Gm5114
|
UTSW |
7 |
39,057,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Gm5114
|
UTSW |
7 |
39,058,750 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTGGCCTGAGGATCCCC -3'
(R):5'- GTTCCTAGCCTTGTGTCCAG -3'
Sequencing Primer
(F):5'- TTCCTCACCTGGTCAGAGG -3'
(R):5'- AGCCTTGTGTCCAGCTCCAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation