Incidental Mutation 'R4430:Tmem181a'
ID |
328582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem181a
|
Ensembl Gene |
ENSMUSG00000038141 |
Gene Name |
transmembrane protein 181A |
Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
MMRRC Submission |
041700-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4430 (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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
Ankrd55 |
G |
A |
13: 112,459,717 (GRCm39) |
|
probably null |
Het |
Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
Or6c213 |
T |
A |
10: 129,574,130 (GRCm39) |
I219F |
probably damaging |
Het |
Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
Pde3b |
C |
T |
7: 114,133,905 (GRCm39) |
P974S |
probably damaging |
Het |
Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sox5 |
A |
G |
6: 143,987,000 (GRCm39) |
I188T |
possibly damaging |
Het |
Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,483,552 (GRCm39) |
V50A |
possibly damaging |
Het |
Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
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 |
Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
probably benign |
Het |
Zfp54 |
T |
G |
17: 21,655,222 (GRCm39) |
V572G |
probably 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 |
R4429: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'- CACCATGGGAGAACTGTTTCTG -3'
(R):5'- GTGGTCAGCAATGACTCTCAC -3'
Sequencing Primer
(F):5'- CCATGGGAGAACTGTTTCTGGTAGTC -3'
(R):5'- TGGTCAGCAATGACTCTCACACTAC -3'
|
Posted On |
2015-07-21 |