Incidental Mutation 'IGL02183:Tmem161b'
ID |
284314 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem161b
|
Ensembl Gene |
ENSMUSG00000035762 |
Gene Name |
transmembrane protein 161B |
Synonyms |
2810446P07Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02183
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
84370415-84444085 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84420373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 125
(Y125H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057495]
[ENSMUST00000223827]
[ENSMUST00000223862]
[ENSMUST00000225069]
|
AlphaFold |
Q8C2L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057495
AA Change: Y125H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000055208 Gene: ENSMUSG00000035762 AA Change: Y125H
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_161AB
|
2 |
485 |
1.3e-213 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223827
AA Change: Y125H
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223862
AA Change: Y125H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224501
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224744
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225069
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225126
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000225708
AA Change: Y110H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit lethality before genotyping age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace2 |
T |
A |
X: 162,960,465 (GRCm39) |
|
probably benign |
Het |
Acsm4 |
A |
T |
7: 119,293,075 (GRCm39) |
|
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,084,925 (GRCm39) |
M374T |
probably damaging |
Het |
Arid4b |
A |
G |
13: 14,344,575 (GRCm39) |
E551G |
possibly damaging |
Het |
Bag4 |
A |
T |
8: 26,258,058 (GRCm39) |
L423Q |
probably damaging |
Het |
Celf1 |
C |
T |
2: 90,831,831 (GRCm39) |
P96S |
probably damaging |
Het |
Cracdl |
G |
A |
1: 37,664,459 (GRCm39) |
P480S |
possibly damaging |
Het |
Cry2 |
G |
A |
2: 92,243,384 (GRCm39) |
R486W |
probably damaging |
Het |
Csn1s1 |
G |
A |
5: 87,825,477 (GRCm39) |
S228N |
possibly damaging |
Het |
Ctnnd2 |
A |
G |
15: 31,020,886 (GRCm39) |
Y1124C |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,118,384 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,847,228 (GRCm39) |
C1695S |
possibly damaging |
Het |
Elmo3 |
T |
C |
8: 106,034,955 (GRCm39) |
L415P |
probably benign |
Het |
Entpd5 |
A |
G |
12: 84,427,154 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
T |
C |
17: 79,149,660 (GRCm39) |
|
probably null |
Het |
Gprin3 |
C |
A |
6: 59,330,147 (GRCm39) |
R720I |
possibly damaging |
Het |
Gria4 |
T |
G |
9: 4,502,460 (GRCm39) |
T358P |
probably damaging |
Het |
Hcn2 |
T |
C |
10: 79,560,647 (GRCm39) |
|
probably null |
Het |
Hivep3 |
A |
G |
4: 119,989,221 (GRCm39) |
T1891A |
probably benign |
Het |
Hmgcr |
A |
G |
13: 96,799,635 (GRCm39) |
V153A |
probably damaging |
Het |
Ifnar1 |
T |
C |
16: 91,302,034 (GRCm39) |
V503A |
possibly damaging |
Het |
Igf2r |
G |
A |
17: 12,917,403 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
A |
G |
12: 113,271,449 (GRCm39) |
S35P |
unknown |
Het |
Jmy |
T |
C |
13: 93,635,750 (GRCm39) |
D22G |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,552,669 (GRCm39) |
I1215T |
probably benign |
Het |
Krt84 |
T |
C |
15: 101,440,791 (GRCm39) |
I134V |
unknown |
Het |
Magi3 |
T |
A |
3: 103,992,663 (GRCm39) |
M270L |
probably benign |
Het |
Maneal |
G |
A |
4: 124,754,209 (GRCm39) |
T198I |
probably benign |
Het |
Map7d3 |
A |
G |
X: 55,867,591 (GRCm39) |
|
probably benign |
Het |
Myh7 |
T |
A |
14: 55,212,188 (GRCm39) |
T1519S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,074,518 (GRCm39) |
|
probably benign |
Het |
Naip5 |
T |
C |
13: 100,358,150 (GRCm39) |
S1029G |
probably benign |
Het |
Or14j1 |
G |
T |
17: 38,146,304 (GRCm39) |
C138F |
probably damaging |
Het |
Or4c11c |
A |
T |
2: 88,662,372 (GRCm39) |
I304F |
probably benign |
Het |
Or4g16 |
T |
A |
2: 111,136,763 (GRCm39) |
V71E |
probably damaging |
Het |
Or5d14 |
T |
C |
2: 87,880,333 (GRCm39) |
T212A |
possibly damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,184 (GRCm39) |
Q133L |
probably benign |
Het |
Pald1 |
A |
T |
10: 61,182,920 (GRCm39) |
|
probably benign |
Het |
Pan2 |
T |
A |
10: 128,144,944 (GRCm39) |
H230Q |
possibly damaging |
Het |
Pcdh9 |
T |
C |
14: 94,123,720 (GRCm39) |
I817V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,153,705 (GRCm39) |
S2547P |
probably benign |
Het |
Ppargc1b |
T |
A |
18: 61,442,167 (GRCm39) |
|
probably null |
Het |
Prdm6 |
T |
C |
18: 53,597,749 (GRCm39) |
|
probably benign |
Het |
Prr5l |
A |
T |
2: 101,602,465 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 185,003,665 (GRCm39) |
L1020* |
probably null |
Het |
Rhbdf1 |
T |
C |
11: 32,160,543 (GRCm39) |
H669R |
probably damaging |
Het |
Rnf150 |
A |
T |
8: 83,730,234 (GRCm39) |
I255F |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,745,325 (GRCm39) |
D1360E |
probably null |
Het |
Sag |
T |
C |
1: 87,756,197 (GRCm39) |
|
probably null |
Het |
Scn2a |
C |
T |
2: 65,501,947 (GRCm39) |
T90I |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,314,955 (GRCm39) |
|
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,926,640 (GRCm39) |
M212T |
probably damaging |
Het |
Slc39a14 |
C |
T |
14: 70,544,134 (GRCm39) |
G484E |
possibly damaging |
Het |
Slco1a1 |
A |
T |
6: 141,867,669 (GRCm39) |
|
probably benign |
Het |
Slitrk3 |
A |
T |
3: 72,957,312 (GRCm39) |
Y487N |
probably damaging |
Het |
Stkld1 |
T |
C |
2: 26,836,671 (GRCm39) |
M279T |
probably benign |
Het |
Tmem71 |
A |
G |
15: 66,426,874 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
C |
16: 32,188,201 (GRCm39) |
F142L |
probably damaging |
Het |
Vmn2r22 |
A |
G |
6: 123,614,963 (GRCm39) |
L209P |
probably damaging |
Het |
Wdr73 |
A |
T |
7: 80,543,508 (GRCm39) |
W136R |
probably damaging |
Het |
Wif1 |
C |
T |
10: 120,911,181 (GRCm39) |
R107C |
probably damaging |
Het |
Ythdf2 |
G |
T |
4: 131,932,885 (GRCm39) |
L92M |
probably benign |
Het |
Zfp53 |
T |
A |
17: 21,720,512 (GRCm39) |
I34N |
possibly damaging |
Het |
Zpld2 |
A |
G |
4: 133,929,291 (GRCm39) |
L338S |
probably benign |
Het |
|
Other mutations in Tmem161b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00666:Tmem161b
|
APN |
13 |
84,442,715 (GRCm39) |
splice site |
probably benign |
|
IGL01086:Tmem161b
|
APN |
13 |
84,370,541 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01150:Tmem161b
|
APN |
13 |
84,440,526 (GRCm39) |
nonsense |
probably null |
|
IGL01566:Tmem161b
|
APN |
13 |
84,442,881 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02481:Tmem161b
|
APN |
13 |
84,432,112 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02519:Tmem161b
|
APN |
13 |
84,442,863 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03207:Tmem161b
|
APN |
13 |
84,442,714 (GRCm39) |
splice site |
probably benign |
|
R6836_Tmem161b_587
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R0015:Tmem161b
|
UTSW |
13 |
84,370,533 (GRCm39) |
splice site |
probably null |
|
R0376:Tmem161b
|
UTSW |
13 |
84,440,502 (GRCm39) |
missense |
probably benign |
0.43 |
R0613:Tmem161b
|
UTSW |
13 |
84,399,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R1925:Tmem161b
|
UTSW |
13 |
84,408,348 (GRCm39) |
missense |
probably benign |
0.07 |
R1935:Tmem161b
|
UTSW |
13 |
84,441,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1936:Tmem161b
|
UTSW |
13 |
84,441,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R2325:Tmem161b
|
UTSW |
13 |
84,442,887 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2988:Tmem161b
|
UTSW |
13 |
84,440,574 (GRCm39) |
nonsense |
probably null |
|
R4327:Tmem161b
|
UTSW |
13 |
84,399,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R4525:Tmem161b
|
UTSW |
13 |
84,405,921 (GRCm39) |
missense |
probably benign |
0.00 |
R4558:Tmem161b
|
UTSW |
13 |
84,399,363 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5133:Tmem161b
|
UTSW |
13 |
84,442,887 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5134:Tmem161b
|
UTSW |
13 |
84,442,887 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5727:Tmem161b
|
UTSW |
13 |
84,434,909 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5875:Tmem161b
|
UTSW |
13 |
84,442,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R6217:Tmem161b
|
UTSW |
13 |
84,399,363 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6527:Tmem161b
|
UTSW |
13 |
84,420,383 (GRCm39) |
missense |
probably benign |
0.06 |
R6550:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6551:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6553:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6554:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6640:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6641:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6685:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6836:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6837:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R6838:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7077:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7078:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7386:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7388:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7429:Tmem161b
|
UTSW |
13 |
84,430,866 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7430:Tmem161b
|
UTSW |
13 |
84,430,866 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7547:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7548:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7634:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R7636:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R8094:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R8095:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R8255:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R8257:Tmem161b
|
UTSW |
13 |
84,370,537 (GRCm39) |
start gained |
probably benign |
|
R8669:Tmem161b
|
UTSW |
13 |
84,420,288 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9049:Tmem161b
|
UTSW |
13 |
84,442,754 (GRCm39) |
missense |
probably benign |
|
R9092:Tmem161b
|
UTSW |
13 |
84,440,503 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9316:Tmem161b
|
UTSW |
13 |
84,430,855 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9326:Tmem161b
|
UTSW |
13 |
84,440,602 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |