Incidental Mutation 'R7049:Gm5134'
ID |
547489 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5134
|
Ensembl Gene |
ENSMUSG00000033255 |
Gene Name |
predicted gene 5134 |
Synonyms |
|
MMRRC Submission |
045147-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R7049 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
75790348-75845425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75828292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 291
(C291S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099577]
|
AlphaFold |
E9QAB5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099577
AA Change: C291S
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000097172 Gene: ENSMUSG00000033255 AA Change: C291S
Domain | Start | End | E-Value | Type |
Pfam:SSF
|
32 |
466 |
2.9e-119 |
PFAM |
transmembrane domain
|
500 |
522 |
N/A |
INTRINSIC |
transmembrane domain
|
651 |
670 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,941,497 (GRCm39) |
V447A |
probably benign |
Het |
Adam6b |
A |
G |
12: 113,454,122 (GRCm39) |
D313G |
probably damaging |
Het |
Adcy10 |
G |
T |
1: 165,367,443 (GRCm39) |
C571F |
probably damaging |
Het |
Anxa1 |
A |
G |
19: 20,352,635 (GRCm39) |
V313A |
probably benign |
Het |
Bpifb6 |
A |
T |
2: 153,750,733 (GRCm39) |
|
probably null |
Het |
Cacna1c |
C |
A |
6: 118,578,124 (GRCm39) |
C1713F |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,754,585 (GRCm39) |
N354S |
probably benign |
Het |
Cers2 |
A |
G |
3: 95,228,965 (GRCm39) |
D200G |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,920,727 (GRCm39) |
L133P |
probably damaging |
Het |
Ddhd1 |
A |
G |
14: 45,840,138 (GRCm39) |
Y16H |
probably damaging |
Het |
Depp1 |
T |
C |
6: 116,629,254 (GRCm39) |
L199P |
probably damaging |
Het |
Fastkd2 |
T |
C |
1: 63,771,009 (GRCm39) |
F122L |
probably benign |
Het |
Fastkd5 |
A |
T |
2: 130,457,431 (GRCm39) |
D386E |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,596,634 (GRCm39) |
S811G |
probably damaging |
Het |
Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
Hrnr |
C |
A |
3: 93,230,461 (GRCm39) |
S233* |
probably null |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,895,573 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Mical1 |
A |
G |
10: 41,358,246 (GRCm39) |
R420G |
possibly damaging |
Het |
Mllt6 |
T |
A |
11: 97,564,637 (GRCm39) |
L481Q |
probably damaging |
Het |
Mtdh |
T |
A |
15: 34,131,311 (GRCm39) |
N174K |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,407,386 (GRCm39) |
M1507V |
probably damaging |
Het |
Npm3 |
A |
T |
19: 45,737,994 (GRCm39) |
M1K |
probably null |
Het |
Or1e21 |
C |
T |
11: 73,344,430 (GRCm39) |
G203R |
probably damaging |
Het |
Pold1 |
A |
T |
7: 44,190,795 (GRCm39) |
W290R |
possibly damaging |
Het |
Prss52 |
C |
T |
14: 64,350,021 (GRCm39) |
T216I |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,763,904 (GRCm39) |
|
probably null |
Het |
Pwwp2a |
T |
A |
11: 43,597,018 (GRCm39) |
F453I |
probably damaging |
Het |
Rttn |
A |
G |
18: 89,082,340 (GRCm39) |
N1422S |
probably damaging |
Het |
Scaf4 |
A |
C |
16: 90,057,075 (GRCm39) |
I92R |
unknown |
Het |
Slc12a1 |
A |
G |
2: 125,013,177 (GRCm39) |
K345E |
probably benign |
Het |
Slc22a28 |
A |
T |
19: 8,049,270 (GRCm39) |
N326K |
probably benign |
Het |
Smgc |
A |
G |
15: 91,744,576 (GRCm39) |
E311G |
possibly damaging |
Het |
Snx7 |
C |
T |
3: 117,633,680 (GRCm39) |
R90H |
possibly damaging |
Het |
Tex101 |
A |
G |
7: 24,367,683 (GRCm39) |
I223T |
probably benign |
Het |
Tnik |
A |
T |
3: 28,715,853 (GRCm39) |
K1093* |
probably null |
Het |
Tnxb |
T |
G |
17: 34,936,242 (GRCm39) |
|
probably null |
Het |
Trio |
T |
C |
15: 27,749,885 (GRCm39) |
N2272S |
possibly damaging |
Het |
Tubal3 |
T |
C |
13: 3,982,756 (GRCm39) |
Y179H |
probably damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,296,550 (GRCm39) |
G745D |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,973,882 (GRCm39) |
Y300* |
probably null |
Het |
Zfp646 |
T |
A |
7: 127,479,199 (GRCm39) |
C459S |
possibly damaging |
Het |
|
Other mutations in Gm5134 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00941:Gm5134
|
APN |
10 |
75,836,255 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL01371:Gm5134
|
APN |
10 |
75,840,581 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02140:Gm5134
|
APN |
10 |
75,821,945 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02197:Gm5134
|
APN |
10 |
75,790,536 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02233:Gm5134
|
APN |
10 |
75,844,334 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02612:Gm5134
|
APN |
10 |
75,828,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02896:Gm5134
|
APN |
10 |
75,810,058 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0021:Gm5134
|
UTSW |
10 |
75,829,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Gm5134
|
UTSW |
10 |
75,829,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0035:Gm5134
|
UTSW |
10 |
75,829,698 (GRCm39) |
missense |
probably benign |
0.01 |
R0035:Gm5134
|
UTSW |
10 |
75,829,698 (GRCm39) |
missense |
probably benign |
0.01 |
R0110:Gm5134
|
UTSW |
10 |
75,810,079 (GRCm39) |
missense |
probably benign |
0.03 |
R0499:Gm5134
|
UTSW |
10 |
75,828,359 (GRCm39) |
missense |
probably benign |
0.00 |
R0510:Gm5134
|
UTSW |
10 |
75,810,079 (GRCm39) |
missense |
probably benign |
0.03 |
R1429:Gm5134
|
UTSW |
10 |
75,814,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R1726:Gm5134
|
UTSW |
10 |
75,828,361 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1918:Gm5134
|
UTSW |
10 |
75,812,180 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1956:Gm5134
|
UTSW |
10 |
75,840,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1993:Gm5134
|
UTSW |
10 |
75,802,227 (GRCm39) |
missense |
probably damaging |
0.96 |
R2049:Gm5134
|
UTSW |
10 |
75,840,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2188:Gm5134
|
UTSW |
10 |
75,831,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Gm5134
|
UTSW |
10 |
75,836,281 (GRCm39) |
missense |
probably benign |
0.08 |
R4074:Gm5134
|
UTSW |
10 |
75,844,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Gm5134
|
UTSW |
10 |
75,831,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4466:Gm5134
|
UTSW |
10 |
75,844,409 (GRCm39) |
missense |
probably benign |
0.00 |
R5180:Gm5134
|
UTSW |
10 |
75,812,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:Gm5134
|
UTSW |
10 |
75,831,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R5601:Gm5134
|
UTSW |
10 |
75,821,786 (GRCm39) |
missense |
probably damaging |
0.98 |
R5627:Gm5134
|
UTSW |
10 |
75,821,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5777:Gm5134
|
UTSW |
10 |
75,840,594 (GRCm39) |
missense |
probably benign |
0.00 |
R5867:Gm5134
|
UTSW |
10 |
75,844,450 (GRCm39) |
missense |
probably benign |
0.00 |
R6145:Gm5134
|
UTSW |
10 |
75,831,673 (GRCm39) |
missense |
probably damaging |
0.99 |
R6232:Gm5134
|
UTSW |
10 |
75,821,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6271:Gm5134
|
UTSW |
10 |
75,831,643 (GRCm39) |
missense |
probably benign |
0.32 |
R6329:Gm5134
|
UTSW |
10 |
75,790,494 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6723:Gm5134
|
UTSW |
10 |
75,844,453 (GRCm39) |
missense |
probably benign |
|
R7305:Gm5134
|
UTSW |
10 |
75,836,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R7579:Gm5134
|
UTSW |
10 |
75,800,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9190:Gm5134
|
UTSW |
10 |
75,844,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R9716:Gm5134
|
UTSW |
10 |
75,821,943 (GRCm39) |
missense |
probably benign |
0.27 |
R9718:Gm5134
|
UTSW |
10 |
75,828,331 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0050:Gm5134
|
UTSW |
10 |
75,828,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCTTAGTAAACCCCGGCATG -3'
(R):5'- CACCTTGGAATGCCTGTATTGC -3'
Sequencing Primer
(F):5'- TCTCATCTGTGCTGAGGT -3'
(R):5'- TTCTAAAGAGGCCCTCCAGG -3'
|
Posted On |
2019-05-13 |