Incidental Mutation 'R6837:Tmem161b'
ID |
537912 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem161b
|
Ensembl Gene |
ENSMUSG00000035762 |
Gene Name |
transmembrane protein 161B |
Synonyms |
2810446P07Rik |
MMRRC Submission |
044945-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6837 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
84370415-84444085 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
C to A
at 84370537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057495]
[ENSMUST00000223827]
[ENSMUST00000223862]
[ENSMUST00000225069]
[ENSMUST00000224525]
|
AlphaFold |
Q8C2L6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057495
AA Change: -1
|
SMART Domains |
Protein: ENSMUSP00000055208 Gene: ENSMUSG00000035762 AA Change: -1
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_161AB
|
2 |
485 |
1.3e-213 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185973
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223827
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224501
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225069
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225212
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224525
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (41/42) |
MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit lethality before genotyping age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
G |
A |
12: 53,188,045 (GRCm39) |
E1820K |
probably damaging |
Het |
Anxa8 |
A |
T |
14: 33,814,511 (GRCm39) |
I116F |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,122,289 (GRCm39) |
D890G |
probably benign |
Het |
Aup1 |
C |
T |
6: 83,034,279 (GRCm39) |
T396I |
possibly damaging |
Het |
C2cd3 |
G |
C |
7: 100,097,953 (GRCm39) |
E594Q |
probably damaging |
Het |
Colgalt2 |
C |
T |
1: 152,382,579 (GRCm39) |
P477L |
probably damaging |
Het |
Dennd3 |
G |
A |
15: 73,429,542 (GRCm39) |
D20N |
probably damaging |
Het |
Dpysl3 |
A |
G |
18: 43,570,947 (GRCm39) |
I109T |
probably benign |
Het |
Fas |
A |
T |
19: 34,284,564 (GRCm39) |
T24S |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,874,832 (GRCm39) |
I2332F |
probably damaging |
Het |
Gm10267 |
T |
C |
18: 44,291,375 (GRCm39) |
H32R |
probably benign |
Het |
Gm57859 |
A |
G |
11: 113,579,439 (GRCm39) |
H278R |
possibly damaging |
Het |
Hcfc2 |
A |
T |
10: 82,575,030 (GRCm39) |
I230F |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,337,463 (GRCm39) |
T673A |
probably benign |
Het |
Herc2 |
T |
G |
7: 55,839,589 (GRCm39) |
N3366K |
possibly damaging |
Het |
Hhla1 |
T |
C |
15: 65,820,334 (GRCm39) |
N139D |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,136,928 (GRCm39) |
E632G |
possibly damaging |
Het |
Kcnc2 |
A |
G |
10: 112,294,407 (GRCm39) |
D98G |
probably damaging |
Het |
Maip1 |
T |
A |
1: 57,454,891 (GRCm39) |
*292K |
probably null |
Het |
Map2 |
T |
C |
1: 66,453,731 (GRCm39) |
F874L |
probably damaging |
Het |
Myof |
A |
T |
19: 37,911,404 (GRCm39) |
|
probably null |
Het |
Notch2 |
A |
G |
3: 97,978,170 (GRCm39) |
|
probably null |
Het |
Npy5r |
T |
A |
8: 67,134,392 (GRCm39) |
M134L |
probably benign |
Het |
Ntsr2 |
T |
A |
12: 16,709,710 (GRCm39) |
M225K |
probably benign |
Het |
Nup153 |
G |
A |
13: 46,847,527 (GRCm39) |
T634I |
probably damaging |
Het |
Or51f1d |
T |
A |
7: 102,700,929 (GRCm39) |
Y141* |
probably null |
Het |
Pcsk5 |
T |
C |
19: 17,416,448 (GRCm39) |
S1667G |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,599,527 (GRCm39) |
I328T |
possibly damaging |
Het |
Pkd2 |
T |
G |
5: 104,624,909 (GRCm39) |
L235W |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,156,292 (GRCm39) |
D66V |
probably damaging |
Het |
Rasal3 |
T |
C |
17: 32,622,044 (GRCm39) |
N105S |
probably benign |
Het |
Sla |
A |
T |
15: 66,658,939 (GRCm39) |
I144N |
probably damaging |
Het |
Slc5a4b |
A |
T |
10: 75,898,220 (GRCm39) |
I498N |
possibly damaging |
Het |
Snx14 |
C |
T |
9: 88,262,276 (GRCm39) |
E872K |
probably benign |
Het |
Stx16 |
G |
A |
2: 173,935,795 (GRCm39) |
R242H |
probably benign |
Het |
Tg |
T |
C |
15: 66,567,984 (GRCm39) |
F1296S |
probably damaging |
Het |
Tmf1 |
G |
A |
6: 97,153,542 (GRCm39) |
T177M |
possibly damaging |
Het |
Tuba4a |
T |
C |
1: 75,194,038 (GRCm39) |
Q14R |
probably damaging |
Het |
Vmn2r114 |
T |
C |
17: 23,529,176 (GRCm39) |
M309V |
probably benign |
Het |
Vps13c |
C |
T |
9: 67,817,504 (GRCm39) |
P1059S |
probably benign |
Het |
Yars1 |
T |
A |
4: 129,103,544 (GRCm39) |
S298T |
possibly damaging |
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 |
IGL02183:Tmem161b
|
APN |
13 |
84,420,373 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCTTTAGAGAACGCCTTGC -3'
(R):5'- TAGACTGGGTACTCCGACAGAC -3'
Sequencing Primer
(F):5'- TCCTCTCTGCGTGGCGTG -3'
(R):5'- TCCCTCGGCTGTCTGGAAC -3'
|
Posted On |
2018-10-18 |