Incidental Mutation 'R4328:Tmem62'
ID |
324455 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem62
|
Ensembl Gene |
ENSMUSG00000054484 |
Gene Name |
transmembrane protein 62 |
Synonyms |
B830009D23Rik |
MMRRC Submission |
041098-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R4328 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120807498-120838333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120810991 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 156
(N156K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067582]
[ENSMUST00000110686]
[ENSMUST00000139428]
|
AlphaFold |
Q8BXJ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067582
AA Change: N156K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064310 Gene: ENSMUSG00000054484 AA Change: N156K
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 damaging
Transcript: ENSMUST00000110686
AA Change: N26K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106314 Gene: ENSMUSG00000054484 AA Change: N26K
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 damaging
Transcript: ENSMUST00000139428
AA Change: N156K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118808 Gene: ENSMUSG00000054484 AA Change: N156K
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: ENSMUST00000147347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196757
|
Meta Mutation Damage Score |
0.5528 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (56/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300009A05Rik |
T |
C |
9: 63,306,238 (GRCm39) |
K89R |
probably damaging |
Het |
Aadacl4fm2 |
T |
A |
4: 144,282,164 (GRCm39) |
K209N |
possibly damaging |
Het |
Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
Bin3 |
A |
G |
14: 70,356,054 (GRCm39) |
I4V |
probably benign |
Het |
Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
Cd55 |
C |
T |
1: 130,375,104 (GRCm39) |
|
probably benign |
Het |
Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,607,671 (GRCm39) |
T386S |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
Crym |
C |
T |
7: 119,794,562 (GRCm39) |
G219E |
probably damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
Eif1ad16 |
T |
A |
12: 87,985,285 (GRCm39) |
D86V |
possibly damaging |
Het |
Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
Gm3336 |
C |
T |
8: 71,173,234 (GRCm39) |
T82I |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,517,079 (GRCm39) |
S425R |
possibly damaging |
Het |
Gpn2 |
T |
C |
4: 133,315,919 (GRCm39) |
V203A |
probably benign |
Het |
Gskip |
T |
C |
12: 105,666,960 (GRCm39) |
Y113H |
probably damaging |
Het |
Hcn2 |
T |
C |
10: 79,560,445 (GRCm39) |
Y259H |
probably damaging |
Het |
Hira |
C |
A |
16: 18,715,362 (GRCm39) |
Q87K |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kirrel1 |
T |
C |
3: 86,992,081 (GRCm39) |
|
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
Ly6e |
C |
A |
15: 74,830,370 (GRCm39) |
N73K |
probably damaging |
Het |
Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
Med24 |
A |
G |
11: 98,597,942 (GRCm39) |
|
probably null |
Het |
Niban1 |
T |
C |
1: 151,512,169 (GRCm39) |
S24P |
possibly damaging |
Het |
Nup210l |
C |
A |
3: 90,083,142 (GRCm39) |
|
probably null |
Het |
Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
Or5w12 |
C |
A |
2: 87,502,008 (GRCm39) |
R234S |
possibly damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
Or8d1 |
T |
C |
9: 38,767,132 (GRCm39) |
M258T |
possibly damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
Pax8 |
A |
G |
2: 24,331,663 (GRCm39) |
F140S |
possibly damaging |
Het |
Ppargc1b |
A |
T |
18: 61,515,540 (GRCm39) |
C34* |
probably null |
Het |
Ppp3cb |
A |
T |
14: 20,581,016 (GRCm39) |
I136K |
probably damaging |
Het |
Prep |
T |
C |
10: 44,996,745 (GRCm39) |
V341A |
probably benign |
Het |
Prickle4 |
C |
A |
17: 47,999,543 (GRCm39) |
G337C |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,422,627 (GRCm39) |
Y627N |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,782,484 (GRCm39) |
Y1953C |
probably damaging |
Het |
Snrnp200 |
T |
A |
2: 127,064,137 (GRCm39) |
V708D |
probably damaging |
Het |
Tent5b |
C |
T |
4: 133,213,914 (GRCm39) |
Q262* |
probably null |
Het |
Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,255,733 (GRCm39) |
T14A |
probably benign |
Het |
Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
Zfp239 |
T |
C |
6: 117,848,745 (GRCm39) |
L161P |
probably damaging |
Het |
Zpbp2 |
A |
G |
11: 98,448,432 (GRCm39) |
T199A |
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 |
R2419:Tmem62
|
UTSW |
2 |
120,837,586 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- CTGAACAAAATTACAATGTGCCTAC -3'
(R):5'- CTAAACACTTCTATGTACCAACTGC -3'
Sequencing Primer
(F):5'- AATGTGCCTACTATTCTCCGGTATG -3'
(R):5'- GTGAGTTCCAGGCCATTTCAGC -3'
|
Posted On |
2015-06-24 |