Incidental Mutation 'R2188:Gm5134'
| ID |
237932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5134
|
| Ensembl Gene |
ENSMUSG00000033255 |
| Gene Name |
predicted gene 5134 |
| Synonyms |
|
| MMRRC Submission |
040190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75790348-75845425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75831670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 370
(S370P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099577]
|
| AlphaFold |
E9QAB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099577
AA Change: S370P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: S370P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134234
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
| Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
| Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
| Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
| Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
| Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
| Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
| Or8u8 |
A |
T |
2: 86,011,780 (GRCm39) |
I225N |
probably damaging |
Het |
| Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
| Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
| Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
| Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
| Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
probably benign |
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 |
|
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 |
|
|
R7049:Gm5134
|
UTSW |
10 |
75,828,292 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- TGGGATTCCACTCCAGGTTTG -3'
(R):5'- GCGCCTTACATTATCATCGC -3'
Sequencing Primer
(F):5'- ACTCCAGGTTTGTCCAGGCTG -3'
(R):5'- GCCTTACATTATCATCGCAAAACTTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation