Incidental Mutation 'R5627:Gm5134'
ID |
441893 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5134
|
Ensembl Gene |
ENSMUSG00000033255 |
Gene Name |
predicted gene 5134 |
Synonyms |
|
MMRRC Submission |
043166-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5627 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
75790348-75845425 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75821942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097172
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099577]
|
AlphaFold |
E9QAB5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099577
AA Change: T259A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097172 Gene: ENSMUSG00000033255 AA Change: T259A
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: ENSMUST00000134234
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Abl1 |
T |
C |
2: 31,690,595 (GRCm39) |
W705R |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,474,296 (GRCm39) |
V569D |
probably damaging |
Het |
Ano3 |
T |
C |
2: 110,587,298 (GRCm39) |
N425S |
possibly damaging |
Het |
Atad2b |
A |
G |
12: 4,967,911 (GRCm39) |
D68G |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,511,604 (GRCm39) |
I173T |
probably damaging |
Het |
Cenpe |
G |
T |
3: 134,941,234 (GRCm39) |
L716F |
possibly damaging |
Het |
Cep85 |
A |
T |
4: 133,861,408 (GRCm39) |
L622Q |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,745,330 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 94,006,327 (GRCm39) |
M1K |
probably null |
Het |
Chil5 |
A |
G |
3: 105,926,951 (GRCm39) |
L228P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,853,767 (GRCm39) |
E265G |
probably damaging |
Het |
Col3a1 |
T |
C |
1: 45,370,720 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,049,664 (GRCm39) |
D497E |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,722,548 (GRCm39) |
E175* |
probably null |
Het |
Eif4g2 |
A |
G |
7: 110,673,446 (GRCm39) |
Y778H |
probably benign |
Het |
Fam98b |
T |
C |
2: 117,098,414 (GRCm39) |
C295R |
probably damaging |
Het |
Gm3149 |
A |
T |
14: 15,702,790 (GRCm39) |
I246L |
probably benign |
Het |
Gm5150 |
A |
G |
3: 16,017,564 (GRCm39) |
Y236H |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,196,059 (GRCm39) |
Y864* |
probably null |
Het |
Inpp4a |
A |
G |
1: 37,406,854 (GRCm39) |
D199G |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,470,445 (GRCm39) |
|
probably benign |
Het |
Kremen1 |
T |
C |
11: 5,149,709 (GRCm39) |
T321A |
probably benign |
Het |
Map3k3 |
A |
G |
11: 106,039,428 (GRCm39) |
S250G |
probably benign |
Het |
Mtmr10 |
A |
T |
7: 63,986,500 (GRCm39) |
K526M |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,899,766 (GRCm39) |
C1461Y |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,325,587 (GRCm39) |
N305K |
possibly damaging |
Het |
Nup210l |
A |
T |
3: 90,051,557 (GRCm39) |
Y567F |
probably damaging |
Het |
Or11g26 |
A |
G |
14: 50,753,257 (GRCm39) |
M199V |
probably benign |
Het |
Or14c39 |
G |
T |
7: 86,344,347 (GRCm39) |
V228F |
possibly damaging |
Het |
Or4a70 |
A |
T |
2: 89,324,388 (GRCm39) |
N89K |
probably benign |
Het |
Or56b2 |
G |
A |
7: 104,337,377 (GRCm39) |
V52M |
probably benign |
Het |
Or5b96 |
T |
A |
19: 12,867,663 (GRCm39) |
I93F |
probably damaging |
Het |
Or5g25 |
T |
A |
2: 85,477,991 (GRCm39) |
I225F |
probably damaging |
Het |
Rcc1 |
T |
C |
4: 132,065,454 (GRCm39) |
R57G |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,440,066 (GRCm39) |
|
probably benign |
Het |
Saraf |
T |
A |
8: 34,621,799 (GRCm39) |
M1K |
probably null |
Het |
Serpinb9d |
C |
T |
13: 33,386,676 (GRCm39) |
T248I |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,390,457 (GRCm39) |
I254M |
possibly damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,522 (GRCm39) |
D18G |
possibly damaging |
Het |
Supt20 |
A |
G |
3: 54,620,611 (GRCm39) |
D389G |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,907,916 (GRCm39) |
I1001K |
probably damaging |
Het |
Vcan |
CAAAA |
CAA |
13: 89,839,254 (GRCm39) |
|
probably null |
Het |
Wdr36 |
T |
A |
18: 32,994,691 (GRCm39) |
D717E |
possibly damaging |
Het |
Zfp318 |
T |
C |
17: 46,724,062 (GRCm39) |
S2022P |
probably 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 |
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'- TCCAAAGCCTTTTATGAAGTTGGAG -3'
(R):5'- ATTTCACCATTTATATCACCGAGGGG -3'
Sequencing Primer
(F):5'- AGGGTATCCGAAGCTGGTG -3'
(R):5'- GCAAGCCATGAGTAAGCA -3'
|
Posted On |
2016-11-08 |