Incidental Mutation 'R2419:Tmem62'
ID |
249121 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem62
|
Ensembl Gene |
ENSMUSG00000054484 |
Gene Name |
transmembrane protein 62 |
Synonyms |
B830009D23Rik |
MMRRC Submission |
040381-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R2419 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120807498-120838333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120837586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 501
(G501E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060455]
[ENSMUST00000067582]
[ENSMUST00000099488]
[ENSMUST00000099489]
[ENSMUST00000110686]
[ENSMUST00000139428]
[ENSMUST00000171260]
|
AlphaFold |
Q8BXJ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060455
|
SMART Domains |
Protein: ENSMUSP00000062496 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
50 |
318 |
4.2e-93 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067582
AA Change: G631E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000064310 Gene: ENSMUSG00000054484 AA Change: G631E
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 |
noncoding transcript
Transcript: ENSMUST00000083949
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099488
|
SMART Domains |
Protein: ENSMUSP00000097087 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
50 |
311 |
4.8e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099489
|
SMART Domains |
Protein: ENSMUSP00000097088 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
3 |
271 |
3.7e-93 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110686
AA Change: G501E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106314 Gene: ENSMUSG00000054484 AA Change: G501E
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: ENSMUST00000151532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135599
|
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 |
probably benign
Transcript: ENSMUST00000171260
|
SMART Domains |
Protein: ENSMUSP00000125961 Gene: ENSMUSG00000023572
Domain | Start | End | E-Value | Type |
Pfam:GCIP
|
52 |
309 |
4.7e-74 |
PFAM |
|
Meta Mutation Damage Score |
0.0978 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
Acyp2 |
T |
C |
11: 30,582,316 (GRCm39) |
Y33C |
probably benign |
Het |
Ampd3 |
A |
G |
7: 110,367,576 (GRCm39) |
|
probably benign |
Het |
Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
Arl4d |
A |
T |
11: 101,557,714 (GRCm39) |
Q80L |
probably damaging |
Het |
Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
Ccdc38 |
T |
A |
10: 93,384,837 (GRCm39) |
V35D |
probably benign |
Het |
Cd6 |
G |
A |
19: 10,770,216 (GRCm39) |
P492S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,902,740 (GRCm39) |
S477N |
possibly damaging |
Het |
Cnmd |
G |
A |
14: 79,875,488 (GRCm39) |
P311S |
probably damaging |
Het |
Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
Dusp18 |
T |
C |
11: 3,847,018 (GRCm39) |
S3P |
possibly damaging |
Het |
Eml2 |
A |
G |
7: 18,910,620 (GRCm39) |
|
probably benign |
Het |
Foxb2 |
G |
C |
19: 16,850,325 (GRCm39) |
A227G |
probably damaging |
Het |
Hey1 |
A |
G |
3: 8,731,003 (GRCm39) |
|
probably null |
Het |
Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
Kcna2 |
G |
A |
3: 107,011,469 (GRCm39) |
G17R |
probably benign |
Het |
Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
Klkb1 |
A |
T |
8: 45,742,149 (GRCm39) |
D43E |
possibly damaging |
Het |
Leng9 |
A |
G |
7: 4,151,626 (GRCm39) |
V350A |
probably benign |
Het |
Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
Lrat |
A |
G |
3: 82,810,992 (GRCm39) |
S10P |
probably damaging |
Het |
Lrrk2 |
C |
A |
15: 91,681,729 (GRCm39) |
|
probably benign |
Het |
Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
Met |
T |
C |
6: 17,535,829 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
G |
6: 120,936,884 (GRCm39) |
V342A |
probably benign |
Het |
Nup210 |
G |
A |
6: 90,994,538 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
T |
A |
10: 78,448,221 (GRCm39) |
I85F |
probably benign |
Het |
Or1j12 |
T |
A |
2: 36,343,338 (GRCm39) |
V247E |
probably damaging |
Het |
Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
Phc3 |
T |
C |
3: 31,005,027 (GRCm39) |
M189V |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,020 (GRCm39) |
|
probably benign |
Het |
Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
Rbbp5 |
T |
C |
1: 132,421,564 (GRCm39) |
I88T |
possibly damaging |
Het |
Rfpl4b |
T |
C |
10: 38,697,368 (GRCm39) |
R78G |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
Sdad1 |
T |
C |
5: 92,453,677 (GRCm39) |
H37R |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,378,065 (GRCm39) |
F627I |
possibly damaging |
Het |
Ski |
A |
G |
4: 155,245,350 (GRCm39) |
S293P |
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,032,560 (GRCm39) |
E191G |
possibly damaging |
Het |
Snx18 |
T |
C |
13: 113,753,755 (GRCm39) |
M393V |
possibly damaging |
Het |
Spata31g1 |
A |
G |
4: 42,974,146 (GRCm39) |
T1160A |
possibly damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,829 (GRCm39) |
V42A |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,415,983 (GRCm39) |
F897L |
probably damaging |
Het |
Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
Tmem94 |
A |
G |
11: 115,687,641 (GRCm39) |
K1167E |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,886,194 (GRCm39) |
S88P |
probably benign |
Het |
Ugt2b38 |
T |
C |
5: 87,571,591 (GRCm39) |
D147G |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
probably damaging |
Het |
Zcchc14 |
T |
A |
8: 122,330,675 (GRCm39) |
Q896L |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,185,307 (GRCm39) |
K446E |
possibly damaging |
Het |
Zpr1 |
T |
C |
9: 46,187,490 (GRCm39) |
|
probably benign |
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 |
R3034:Tmem62
|
UTSW |
2 |
120,809,605 (GRCm39) |
splice site |
probably benign |
|
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'- TGGTCACAGCTTCAGGTCTC -3'
(R):5'- TCAGATGTCCAAGGAGTGACTG -3'
Sequencing Primer
(F):5'- AGGTCTCATCTCCACCAGG -3'
(R):5'- ATGTCCAAGGAGTGACTGCTTCC -3'
|
Posted On |
2014-11-12 |