Incidental Mutation 'R8385:Tmem181a'
| ID |
647140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem181a
|
| Ensembl Gene |
ENSMUSG00000038141 |
| Gene Name |
transmembrane protein 181A |
| Synonyms |
5930418K15Rik, C76977, Gpr178, Tmem181 |
| MMRRC Submission |
067751-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8385 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
6307135-6358589 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6339274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 61
(I61T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088940]
[ENSMUST00000232383]
|
| AlphaFold |
A0A338P7C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088940
AA Change: I61T
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086333
Gene: ENSMUSG00000038141
AA Change: I61T
| 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 |
probably benign
Transcript: ENSMUST00000232383
AA Change: I102T
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brap |
C |
T |
5: 121,823,197 (GRCm39) |
T473I |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,319,687 (GRCm39) |
M1400L |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,621 (GRCm39) |
I127T |
possibly damaging |
Het |
| Dbt |
A |
T |
3: 116,317,039 (GRCm39) |
I72F |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,041 (GRCm39) |
H592R |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,620,891 (GRCm39) |
M541K |
probably damaging |
Het |
| Dnai7 |
C |
T |
6: 145,120,918 (GRCm39) |
E685K |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,878,090 (GRCm39) |
D327G |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,940,037 (GRCm39) |
S390G |
possibly damaging |
Het |
| Fbxo22 |
A |
G |
9: 55,121,233 (GRCm39) |
D106G |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,301,519 (GRCm39) |
T441A |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,780,347 (GRCm39) |
I192V |
probably damaging |
Het |
| Gosr1 |
T |
A |
11: 76,620,967 (GRCm39) |
T241S |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,706,527 (GRCm39) |
S792G |
probably benign |
Het |
| Itsn1 |
A |
C |
16: 91,690,699 (GRCm39) |
K1302Q |
unknown |
Het |
| Kif16b |
T |
C |
2: 142,554,258 (GRCm39) |
K847E |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Mark3 |
A |
G |
12: 111,621,808 (GRCm39) |
D650G |
possibly damaging |
Het |
| Mgat4f |
A |
G |
1: 134,318,376 (GRCm39) |
K383E |
probably benign |
Het |
| Mob3b |
T |
C |
4: 34,985,980 (GRCm39) |
Y186C |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,450,785 (GRCm39) |
K329E |
probably benign |
Het |
| Mta1 |
A |
T |
12: 113,095,085 (GRCm39) |
M448L |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,384 (GRCm39) |
N161K |
probably damaging |
Het |
| Myo10 |
T |
A |
15: 25,804,484 (GRCm39) |
I1593N |
probably damaging |
Het |
| Naca |
A |
G |
10: 127,878,307 (GRCm39) |
N1113S |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,522 (GRCm39) |
I206V |
probably benign |
Het |
| Or5e1 |
T |
G |
7: 108,354,511 (GRCm39) |
Y149* |
probably null |
Het |
| Pcdhga1 |
A |
T |
18: 37,795,149 (GRCm39) |
D51V |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,711,082 (GRCm39) |
E1380G |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,702 (GRCm39) |
V2130M |
possibly damaging |
Het |
| Pla2g4c |
C |
T |
7: 13,063,589 (GRCm39) |
P19S |
probably benign |
Het |
| Popdc2 |
G |
A |
16: 38,183,262 (GRCm39) |
V82I |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,894 (GRCm39) |
R203G |
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,892 (GRCm39) |
N13K |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,246,817 (GRCm39) |
D48E |
probably benign |
Het |
| Rell1 |
T |
A |
5: 64,087,861 (GRCm39) |
K136* |
probably null |
Het |
| Slc38a4 |
A |
G |
15: 96,897,393 (GRCm39) |
I474T |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,254,109 (GRCm39) |
M243V |
probably benign |
Het |
| Spata31f1a |
C |
T |
4: 42,850,509 (GRCm39) |
R549H |
possibly damaging |
Het |
| Speer4c2 |
A |
T |
5: 15,857,669 (GRCm39) |
S203T |
unknown |
Het |
| Spg11 |
A |
T |
2: 121,927,802 (GRCm39) |
S661T |
probably benign |
Het |
| Thra |
C |
G |
11: 98,659,177 (GRCm39) |
S435R |
probably benign |
Het |
| Ttpa |
G |
A |
4: 20,028,483 (GRCm39) |
G247S |
probably damaging |
Het |
| Usp17lb |
C |
T |
7: 104,489,830 (GRCm39) |
V366I |
possibly damaging |
Het |
| Vit |
A |
T |
17: 78,927,066 (GRCm39) |
Q337L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,914,088 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,181,791 (GRCm39) |
L539P |
probably damaging |
Het |
| Ythdc1 |
C |
A |
5: 86,975,961 (GRCm39) |
P529T |
possibly damaging |
Het |
| Zdhhc13 |
T |
C |
7: 48,455,444 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
A |
T |
6: 47,882,023 (GRCm39) |
Y570F |
possibly damaging |
Het |
| Zfp872 |
A |
T |
9: 22,111,407 (GRCm39) |
K295N |
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 |
|
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 |
|
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'- TCTTGTACCATCGCACGAAGG -3'
(R):5'- CTACATGGACCTGATAGCATGTG -3'
Sequencing Primer
(F):5'- GAAGCTAGTTCCTTGTGCTCTGC -3'
(R):5'- TGATAGCATGTGCCCAGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation