Incidental Mutation 'R9316:Tmem161b'
| ID |
705891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem161b
|
| Ensembl Gene |
ENSMUSG00000035762 |
| Gene Name |
transmembrane protein 161B |
| Synonyms |
2810446P07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
84370415-84444085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 84430855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 158
(H158N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057495]
[ENSMUST00000223827]
[ENSMUST00000223862]
[ENSMUST00000225069]
|
| AlphaFold |
Q8C2L6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057495
AA Change: H158N
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000055208
Gene: ENSMUSG00000035762
AA Change: H158N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
485 |
1.3e-213 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223827
AA Change: H158N
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223862
AA Change: H158N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225708
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
91% (32/35) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit lethality before genotyping age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
| Asb10 |
G |
T |
5: 24,745,045 (GRCm39) |
N101K |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,828,383 (GRCm39) |
V163A |
possibly damaging |
Het |
| Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
| Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
| Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
| Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
| Iho1 |
T |
C |
9: 108,298,726 (GRCm39) |
T31A |
possibly damaging |
Het |
| Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
| Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
| Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,924,707 (GRCm39) |
K186E |
possibly damaging |
Het |
| Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,784,659 (GRCm39) |
S779T |
probably damaging |
Het |
| Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,101,084 (GRCm39) |
K475T |
probably benign |
Het |
| Qsox2 |
T |
A |
2: 26,101,085 (GRCm39) |
K475* |
probably null |
Het |
| Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
| Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
| Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
| Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
| Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
| Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
probably 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 |
|
|
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 |
|
R9326:Tmem161b
|
UTSW |
13 |
84,440,602 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACTTCCCAAGGACATCTGAC -3'
(R):5'- GGGTGCAACATTTTGGGAAC -3'
Sequencing Primer
(F):5'- TCTGACAGACACTGGATAGAATC -3'
(R):5'- AGGTTAATTAGAACATAAGCCAACTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation