Incidental Mutation 'R4327:Tmem161b'
| ID |
324436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem161b
|
| Ensembl Gene |
ENSMUSG00000035762 |
| Gene Name |
transmembrane protein 161B |
| Synonyms |
2810446P07Rik |
| MMRRC Submission |
041097-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
84370415-84444085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84399359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 5
(G5D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153435
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057495]
[ENSMUST00000223827]
[ENSMUST00000223862]
[ENSMUST00000224525]
[ENSMUST00000225069]
|
| AlphaFold |
Q8C2L6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057495
AA Change: G5D
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055208
Gene: ENSMUSG00000035762
AA Change: G5D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
485 |
1.3e-213 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223827
AA Change: G5D
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223862
AA Change: G5D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224501
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224525
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225212
|
| Meta Mutation Damage Score |
0.3801 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit lethality before genotyping age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
C |
1: 53,221,664 (GRCm39) |
D55G |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,886,525 (GRCm39) |
E1152* |
probably null |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,687,056 (GRCm39) |
|
probably benign |
Het |
| Bcl2l1 |
A |
G |
2: 152,624,099 (GRCm39) |
V223A |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
G |
T |
4: 137,151,242 (GRCm39) |
A137E |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Col16a1 |
T |
C |
4: 129,988,344 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
A |
2: 172,955,299 (GRCm39) |
|
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Hmgxb3 |
A |
T |
18: 61,300,611 (GRCm39) |
M155K |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kcnn1 |
A |
T |
8: 71,305,307 (GRCm39) |
V301E |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,568,561 (GRCm39) |
E385G |
probably benign |
Het |
| Klhl28 |
G |
A |
12: 64,996,952 (GRCm39) |
A463V |
probably damaging |
Het |
| Lhb |
A |
G |
7: 45,070,383 (GRCm39) |
R3G |
possibly damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
| Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
| Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
A |
C |
7: 141,281,577 (GRCm39) |
S479R |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,971 (GRCm39) |
I34N |
probably benign |
Het |
| Or12e10 |
G |
T |
2: 87,640,496 (GRCm39) |
V111L |
probably benign |
Het |
| Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
| Or52n1 |
G |
A |
7: 104,382,833 (GRCm39) |
T246I |
probably damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
| Pex26 |
A |
T |
6: 121,164,373 (GRCm39) |
E172V |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,629,809 (GRCm39) |
|
probably benign |
Het |
| Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
| Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,567,815 (GRCm39) |
F260L |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,979,500 (GRCm39) |
M1L |
probably damaging |
Het |
| Sh3d19 |
T |
C |
3: 86,031,020 (GRCm39) |
I728T |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
| St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,652,779 (GRCm39) |
V781A |
possibly damaging |
Het |
| Tigd2 |
C |
A |
6: 59,187,562 (GRCm39) |
T143K |
probably benign |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tonsl |
G |
A |
15: 76,523,916 (GRCm39) |
A28V |
probably benign |
Het |
| Treml4 |
T |
C |
17: 48,581,417 (GRCm39) |
Y222H |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,087,131 (GRCm39) |
V175D |
probably damaging |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp286 |
A |
G |
11: 62,670,844 (GRCm39) |
C410R |
probably damaging |
Het |
| Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGAAGTGAAACCCATACTGTAG -3'
(R):5'- TCACCCAGCCTTATAAGCTGG -3'
Sequencing Primer
(F):5'- AGTGAAACCCATACTGTAGTTTAAAC -3'
(R):5'- ACGGTGTGTGCTCATAACCCTAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation