Incidental Mutation 'R4429:Tmem181a'
ID |
328350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem181a
|
Ensembl Gene |
ENSMUSG00000038141 |
Gene Name |
transmembrane protein 181A |
Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
MMRRC Submission |
041699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4429 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6346061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 185
(L185H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088940]
[ENSMUST00000232383]
|
AlphaFold |
A0A338P7C9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088940
AA Change: L185H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000086333 Gene: ENSMUSG00000038141 AA Change: L185H
Domain | Start | End | E-Value | Type |
transmembrane domain
|
17 |
36 |
N/A |
INTRINSIC |
Pfam:MIG-14_Wnt-bd
|
127 |
422 |
1e-100 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228334
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231593
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232383
AA Change: L226H
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.2866 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abca5 |
T |
C |
11: 110,202,236 (GRCm39) |
T390A |
probably benign |
Het |
Ahcyl2 |
T |
G |
6: 29,894,874 (GRCm39) |
V452G |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,828,804 (GRCm39) |
N545I |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Catip |
T |
A |
1: 74,407,891 (GRCm39) |
|
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cnpy3 |
T |
A |
17: 47,058,070 (GRCm39) |
Q111L |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,971,120 (GRCm39) |
N2725D |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Ephb3 |
G |
A |
16: 21,033,213 (GRCm39) |
E66K |
probably damaging |
Het |
Gm6594 |
T |
A |
17: 82,846,923 (GRCm39) |
D79E |
probably benign |
Het |
Gtf2e2 |
T |
A |
8: 34,242,521 (GRCm39) |
Y74* |
probably null |
Het |
Hacd4 |
A |
T |
4: 88,353,184 (GRCm39) |
F103I |
possibly damaging |
Het |
Hap1 |
T |
C |
11: 100,245,098 (GRCm39) |
T38A |
probably benign |
Het |
Havcr2 |
T |
A |
11: 46,347,387 (GRCm39) |
D72E |
probably damaging |
Het |
Iqcg |
G |
A |
16: 32,839,860 (GRCm39) |
T362I |
probably benign |
Het |
Lect2 |
C |
T |
13: 56,693,538 (GRCm39) |
|
probably null |
Het |
Lemd3 |
T |
C |
10: 120,813,893 (GRCm39) |
T447A |
probably benign |
Het |
Lrrc72 |
T |
C |
12: 36,258,623 (GRCm39) |
N78S |
probably damaging |
Het |
Map3k14 |
A |
G |
11: 103,118,410 (GRCm39) |
L592P |
probably damaging |
Het |
Meioc |
T |
C |
11: 102,566,546 (GRCm39) |
Y721H |
probably damaging |
Het |
Mrps10 |
T |
A |
17: 47,689,124 (GRCm39) |
|
probably null |
Het |
Myo5c |
A |
G |
9: 75,201,283 (GRCm39) |
Y1406C |
probably damaging |
Het |
Myo7a |
T |
C |
7: 97,702,395 (GRCm39) |
Y2098C |
probably damaging |
Het |
Nol9 |
C |
T |
4: 152,125,631 (GRCm39) |
T194I |
probably damaging |
Het |
Nox3 |
G |
A |
17: 3,733,233 (GRCm39) |
T206I |
probably benign |
Het |
Nsd2 |
T |
G |
5: 34,000,546 (GRCm39) |
M21R |
probably damaging |
Het |
Pcdh9 |
T |
C |
14: 94,124,820 (GRCm39) |
N327S |
probably damaging |
Het |
Pclo |
T |
G |
5: 14,728,114 (GRCm39) |
|
probably benign |
Het |
Pparg |
T |
A |
6: 115,416,984 (GRCm39) |
M59K |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,613,796 (GRCm39) |
K1116R |
probably damaging |
Het |
Rhbdf1 |
C |
T |
11: 32,163,369 (GRCm39) |
E368K |
probably benign |
Het |
Rita1 |
A |
G |
5: 120,747,626 (GRCm39) |
V224A |
probably damaging |
Het |
Rsph6a |
T |
A |
7: 18,807,988 (GRCm39) |
W384R |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,181,329 (GRCm39) |
Y65N |
possibly damaging |
Het |
Serpina5 |
C |
A |
12: 104,069,665 (GRCm39) |
F292L |
probably benign |
Het |
Sf3b3 |
A |
C |
8: 111,552,750 (GRCm39) |
L511V |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
Slco6d1 |
T |
C |
1: 98,424,091 (GRCm39) |
V581A |
possibly damaging |
Het |
Sptbn2 |
T |
C |
19: 4,788,383 (GRCm39) |
Y1121H |
probably damaging |
Het |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Timm29 |
G |
C |
9: 21,504,775 (GRCm39) |
A148P |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Uba6 |
C |
T |
5: 86,268,406 (GRCm39) |
V941I |
probably damaging |
Het |
Vmn1r174 |
T |
C |
7: 23,453,565 (GRCm39) |
V77A |
probably benign |
Het |
Zfp661 |
A |
G |
2: 127,420,628 (GRCm39) |
V57A |
probably damaging |
Het |
Zfp867 |
C |
T |
11: 59,355,863 (GRCm39) |
D64N |
possibly damaging |
Het |
Zp3r |
T |
C |
1: 130,519,128 (GRCm39) |
T294A |
possibly damaging |
Het |
|
Other mutations in Tmem181a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02071:Tmem181a
|
APN |
17 |
6,347,531 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03027:Tmem181a
|
APN |
17 |
6,348,494 (GRCm39) |
missense |
probably damaging |
1.00 |
a_team
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
abraham
|
UTSW |
17 |
6,340,874 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4651001:Tmem181a
|
UTSW |
17 |
6,351,170 (GRCm39) |
missense |
probably benign |
|
R1966:Tmem181a
|
UTSW |
17 |
6,353,501 (GRCm39) |
missense |
probably benign |
|
R2139:Tmem181a
|
UTSW |
17 |
6,348,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R2323:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R2324:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3001:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3002:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3003:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3034:Tmem181a
|
UTSW |
17 |
6,330,901 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3425:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3426:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3427:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3428:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3499:Tmem181a
|
UTSW |
17 |
6,330,894 (GRCm39) |
nonsense |
probably null |
|
R3683:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R3893:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4226:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4227:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4428:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4430:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4465:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4466:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4467:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4496:Tmem181a
|
UTSW |
17 |
6,346,061 (GRCm39) |
missense |
probably damaging |
0.99 |
R4728:Tmem181a
|
UTSW |
17 |
6,340,874 (GRCm39) |
missense |
probably benign |
0.03 |
R4822:Tmem181a
|
UTSW |
17 |
6,330,940 (GRCm39) |
missense |
probably benign |
0.00 |
R5301:Tmem181a
|
UTSW |
17 |
6,346,070 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5991:Tmem181a
|
UTSW |
17 |
6,339,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R6052:Tmem181a
|
UTSW |
17 |
6,330,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R6222:Tmem181a
|
UTSW |
17 |
6,351,192 (GRCm39) |
missense |
probably benign |
0.29 |
R7131:Tmem181a
|
UTSW |
17 |
6,348,247 (GRCm39) |
missense |
probably damaging |
0.98 |
R7231:Tmem181a
|
UTSW |
17 |
6,348,195 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7374:Tmem181a
|
UTSW |
17 |
6,354,533 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7437:Tmem181a
|
UTSW |
17 |
6,353,540 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7592:Tmem181a
|
UTSW |
17 |
6,339,295 (GRCm39) |
missense |
probably benign |
0.00 |
R8175:Tmem181a
|
UTSW |
17 |
6,346,075 (GRCm39) |
missense |
probably benign |
0.00 |
R8327:Tmem181a
|
UTSW |
17 |
6,351,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Tmem181a
|
UTSW |
17 |
6,339,274 (GRCm39) |
missense |
probably benign |
0.10 |
R9144:Tmem181a
|
UTSW |
17 |
6,346,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9221:Tmem181a
|
UTSW |
17 |
6,307,265 (GRCm39) |
missense |
probably damaging |
0.99 |
R9327:Tmem181a
|
UTSW |
17 |
6,346,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF010:Tmem181a
|
UTSW |
17 |
6,330,978 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCATGGGAGAACTGTTTCTGG -3'
(R):5'- TGGTCAGCAATGACTCTCAC -3'
Sequencing Primer
(F):5'- CCATGGGAGAACTGTTTCTGGTAGTC -3'
(R):5'- TGGTCAGCAATGACTCTCACACTAC -3'
|
Posted On |
2015-07-07 |