Incidental Mutation 'IGL02519:Tmem161b'
| ID |
296875 |
| 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 # |
IGL02519
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
84370415-84444085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84442863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 261
(L261Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057495]
[ENSMUST00000223827]
[ENSMUST00000223862]
[ENSMUST00000225069]
|
| AlphaFold |
Q8C2L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057495
AA Change: L443Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055208
Gene: ENSMUSG00000035762
AA Change: L443Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
485 |
1.3e-213 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223827
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223862
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225069
AA Change: L261Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,868,687 (GRCm39) |
I224F |
probably damaging |
Het |
| Adamts17 |
A |
G |
7: 66,774,721 (GRCm39) |
T947A |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,504 (GRCm39) |
E75G |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,279,893 (GRCm39) |
H225N |
probably benign |
Het |
| Arsi |
A |
G |
18: 61,050,139 (GRCm39) |
S341G |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,389,665 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,949,464 (GRCm39) |
E370G |
probably damaging |
Het |
| Cacna1i |
C |
T |
15: 80,246,075 (GRCm39) |
R490* |
probably null |
Het |
| Cd33 |
C |
T |
7: 43,178,153 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
C |
12: 104,758,112 (GRCm39) |
I135V |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,919,457 (GRCm39) |
N795K |
possibly damaging |
Het |
| Dhps |
A |
G |
8: 85,799,928 (GRCm39) |
D126G |
probably damaging |
Het |
| Dlg2 |
G |
T |
7: 91,589,323 (GRCm39) |
V196L |
possibly damaging |
Het |
| Dsg1c |
T |
A |
18: 20,416,790 (GRCm39) |
I897N |
probably damaging |
Het |
| Dzip3 |
A |
G |
16: 48,748,759 (GRCm39) |
L1059S |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,821,494 (GRCm39) |
T220S |
possibly damaging |
Het |
| Fgf17 |
A |
G |
14: 70,875,968 (GRCm39) |
I88T |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,214,383 (GRCm39) |
V137A |
possibly damaging |
Het |
| Gnal |
G |
A |
18: 67,221,836 (GRCm39) |
E80K |
unknown |
Het |
| Hectd1 |
T |
G |
12: 51,815,894 (GRCm39) |
S1393R |
probably damaging |
Het |
| Igsf6 |
T |
C |
7: 120,667,496 (GRCm39) |
I173M |
possibly damaging |
Het |
| Il2ra |
A |
C |
2: 11,687,901 (GRCm39) |
E227A |
possibly damaging |
Het |
| Iqcf6 |
C |
T |
9: 106,504,479 (GRCm39) |
R48C |
probably damaging |
Het |
| Kdm3a |
G |
T |
6: 71,588,570 (GRCm39) |
Q480K |
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,616 (GRCm39) |
A423E |
probably benign |
Het |
| Magea6 |
T |
C |
X: 153,707,741 (GRCm39) |
D105G |
probably benign |
Het |
| Nop53 |
C |
A |
7: 15,673,197 (GRCm39) |
|
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,984,789 (GRCm39) |
F272I |
probably benign |
Het |
| Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
| Pgghg |
A |
G |
7: 140,524,894 (GRCm39) |
T352A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,382,184 (GRCm39) |
S1464P |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,461,762 (GRCm39) |
T3609N |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,908,587 (GRCm39) |
Y533* |
probably null |
Het |
| Thsd7b |
A |
G |
1: 129,540,932 (GRCm39) |
S346G |
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,976,134 (GRCm39) |
T493S |
possibly damaging |
Het |
| Tmprss11d |
A |
T |
5: 86,454,164 (GRCm39) |
C214S |
probably damaging |
Het |
| Trim16 |
A |
T |
11: 62,724,905 (GRCm39) |
E144V |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,961,359 (GRCm39) |
Y356C |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,667,745 (GRCm39) |
F198I |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,320 (GRCm39) |
I726V |
possibly damaging |
Het |
| Zzz3 |
A |
T |
3: 152,133,027 (GRCm39) |
E28D |
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 |
|
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 |
Incidental Mutation