Incidental Mutation 'R3034:Tmem62'
ID |
264766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem62
|
Ensembl Gene |
ENSMUSG00000054484 |
Gene Name |
transmembrane protein 62 |
Synonyms |
B830009D23Rik |
MMRRC Submission |
040550-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R3034 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120807498-120838333 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 120809605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067582]
[ENSMUST00000110686]
[ENSMUST00000139428]
|
AlphaFold |
Q8BXJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067582
|
SMART Domains |
Protein: ENSMUSP00000064310 Gene: ENSMUSG00000054484
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:Metallophos
|
56 |
261 |
7.3e-11 |
PFAM |
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
transmembrane domain
|
573 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110686
|
SMART Domains |
Protein: ENSMUSP00000106314 Gene: ENSMUSG00000054484
Domain | Start | End | E-Value | Type |
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130010
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139428
|
SMART Domains |
Protein: ENSMUSP00000118808 Gene: ENSMUSG00000054484
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
SCOP:d1utea_
|
59 |
274 |
9e-9 |
SMART |
low complexity region
|
308 |
327 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196757
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,390,881 (GRCm39) |
T202S |
unknown |
Het |
Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
probably damaging |
Het |
|
Other mutations in Tmem62 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Tmem62
|
APN |
2 |
120,837,445 (GRCm39) |
splice site |
probably null |
|
IGL01011:Tmem62
|
APN |
2 |
120,809,700 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02125:Tmem62
|
APN |
2 |
120,826,993 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02430:Tmem62
|
APN |
2 |
120,817,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R0031:Tmem62
|
UTSW |
2 |
120,829,594 (GRCm39) |
missense |
probably benign |
0.00 |
R0535:Tmem62
|
UTSW |
2 |
120,833,077 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1597:Tmem62
|
UTSW |
2 |
120,814,843 (GRCm39) |
missense |
probably benign |
0.01 |
R1656:Tmem62
|
UTSW |
2 |
120,837,483 (GRCm39) |
missense |
probably benign |
0.36 |
R1682:Tmem62
|
UTSW |
2 |
120,837,538 (GRCm39) |
missense |
probably benign |
0.32 |
R1702:Tmem62
|
UTSW |
2 |
120,809,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R1755:Tmem62
|
UTSW |
2 |
120,814,958 (GRCm39) |
critical splice donor site |
probably null |
|
R1886:Tmem62
|
UTSW |
2 |
120,817,151 (GRCm39) |
missense |
probably damaging |
0.99 |
R1943:Tmem62
|
UTSW |
2 |
120,817,107 (GRCm39) |
missense |
probably benign |
0.10 |
R2151:Tmem62
|
UTSW |
2 |
120,817,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R2419:Tmem62
|
UTSW |
2 |
120,837,586 (GRCm39) |
missense |
probably damaging |
0.98 |
R3782:Tmem62
|
UTSW |
2 |
120,807,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R4326:Tmem62
|
UTSW |
2 |
120,810,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R4328:Tmem62
|
UTSW |
2 |
120,810,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R4620:Tmem62
|
UTSW |
2 |
120,826,845 (GRCm39) |
intron |
probably benign |
|
R5168:Tmem62
|
UTSW |
2 |
120,824,088 (GRCm39) |
missense |
probably benign |
0.16 |
R5625:Tmem62
|
UTSW |
2 |
120,820,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R6057:Tmem62
|
UTSW |
2 |
120,807,943 (GRCm39) |
missense |
probably damaging |
0.98 |
R6386:Tmem62
|
UTSW |
2 |
120,829,595 (GRCm39) |
missense |
probably benign |
0.00 |
R7038:Tmem62
|
UTSW |
2 |
120,824,058 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7182:Tmem62
|
UTSW |
2 |
120,835,224 (GRCm39) |
missense |
probably benign |
0.08 |
R7569:Tmem62
|
UTSW |
2 |
120,837,411 (GRCm39) |
missense |
probably benign |
|
R7607:Tmem62
|
UTSW |
2 |
120,826,921 (GRCm39) |
missense |
probably benign |
0.00 |
R7849:Tmem62
|
UTSW |
2 |
120,814,853 (GRCm39) |
missense |
probably benign |
0.01 |
R8353:Tmem62
|
UTSW |
2 |
120,814,817 (GRCm39) |
missense |
probably damaging |
0.99 |
R8531:Tmem62
|
UTSW |
2 |
120,837,533 (GRCm39) |
missense |
probably damaging |
0.99 |
R8944:Tmem62
|
UTSW |
2 |
120,817,316 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9218:Tmem62
|
UTSW |
2 |
120,835,224 (GRCm39) |
missense |
probably benign |
0.08 |
R9448:Tmem62
|
UTSW |
2 |
120,808,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R9597:Tmem62
|
UTSW |
2 |
120,829,567 (GRCm39) |
missense |
probably benign |
0.23 |
X0052:Tmem62
|
UTSW |
2 |
120,824,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGGCTCTTTAAGTCATTCC -3'
(R):5'- GAAGCTATATTCTATTCTGCTCTTGGC -3'
Sequencing Primer
(F):5'- CCTATAATAACAATACCCTTGCTGAG -3'
(R):5'- GCTCTTGGCAGATTTACCATG -3'
|
Posted On |
2015-02-05 |