Incidental Mutation 'R4271:Tmem161a'
| ID |
322171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem161a
|
| Ensembl Gene |
ENSMUSG00000002342 |
| Gene Name |
transmembrane protein 161A |
| Synonyms |
|
| MMRRC Submission |
041076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R4271 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70625006-70636331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70634162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 365
(L365P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002413]
[ENSMUST00000063788]
[ENSMUST00000110127]
[ENSMUST00000149105]
[ENSMUST00000182980]
[ENSMUST00000182365]
[ENSMUST00000182715]
[ENSMUST00000147656]
|
| AlphaFold |
Q8VCA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002413
AA Change: L391P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342
AA Change: L391P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
478 |
6.8e-182 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063788
|
| SMART Domains |
Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
29 |
122 |
3.4e-23 |
PFAM |
|
Pfam:Mito_carr
|
127 |
219 |
1.4e-26 |
PFAM |
|
Pfam:Mito_carr
|
222 |
316 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110127
|
| SMART Domains |
Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
29 |
122 |
1.6e-23 |
PFAM |
|
Pfam:Mito_carr
|
127 |
219 |
7.2e-27 |
PFAM |
|
Pfam:Mito_carr
|
222 |
317 |
3.3e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123923
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125906
|
| SMART Domains |
Protein: ENSMUSP00000137791
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
119 |
8.7e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126268
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149105
AA Change: L365P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123084
Gene: ENSMUSG00000002342
AA Change: L365P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
95 |
5.1e-41 |
PFAM |
|
Pfam:Tmemb_161AB
|
93 |
454 |
9.5e-148 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182980
AA Change: L239P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138499
Gene: ENSMUSG00000002342
AA Change: L239P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
1 |
328 |
4.6e-133 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182365
|
| SMART Domains |
Protein: ENSMUSP00000138641
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
98 |
3.7e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182715
|
| SMART Domains |
Protein: ENSMUSP00000138432
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
45 |
3.3e-15 |
PFAM |
|
low complexity region
|
152 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147656
|
| SMART Domains |
Protein: ENSMUSP00000138017
Gene: ENSMUSG00000002342
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_161AB
|
2 |
270 |
4.6e-122 |
PFAM |
|
low complexity region
|
283 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
| Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
| C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
| C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
| Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
| Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
| Gsap |
T |
C |
5: 21,431,348 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,088,983 (GRCm39) |
Q146R |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
| Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,614 (GRCm39) |
D242G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
| Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
| Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
| Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
| Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
| Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
probably damaging |
Het |
|
| Other mutations in Tmem161a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Tmem161a
|
APN |
8 |
70,631,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Tmem161a
|
APN |
8 |
70,629,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02597:Tmem161a
|
APN |
8 |
70,634,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Tmem161a
|
APN |
8 |
70,633,887 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Tmem161a
|
UTSW |
8 |
70,634,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0498:Tmem161a
|
UTSW |
8 |
70,633,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1881:Tmem161a
|
UTSW |
8 |
70,633,435 (GRCm39) |
missense |
probably null |
1.00 |
|
R1970:Tmem161a
|
UTSW |
8 |
70,629,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Tmem161a
|
UTSW |
8 |
70,629,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Tmem161a
|
UTSW |
8 |
70,630,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Tmem161a
|
UTSW |
8 |
70,630,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Tmem161a
|
UTSW |
8 |
70,631,565 (GRCm39) |
intron |
probably benign |
|
|
R2872:Tmem161a
|
UTSW |
8 |
70,631,565 (GRCm39) |
intron |
probably benign |
|
|
R4284:Tmem161a
|
UTSW |
8 |
70,630,076 (GRCm39) |
intron |
probably benign |
|
|
R4576:Tmem161a
|
UTSW |
8 |
70,634,713 (GRCm39) |
splice site |
probably null |
|
|
R4677:Tmem161a
|
UTSW |
8 |
70,633,597 (GRCm39) |
splice site |
probably null |
|
|
R6322:Tmem161a
|
UTSW |
8 |
70,634,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Tmem161a
|
UTSW |
8 |
70,633,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Tmem161a
|
UTSW |
8 |
70,630,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Tmem161a
|
UTSW |
8 |
70,630,154 (GRCm39) |
start gained |
probably benign |
|
|
R8269:Tmem161a
|
UTSW |
8 |
70,634,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8695:Tmem161a
|
UTSW |
8 |
70,627,047 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9261:Tmem161a
|
UTSW |
8 |
70,631,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9355:Tmem161a
|
UTSW |
8 |
70,633,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9657:Tmem161a
|
UTSW |
8 |
70,630,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAATCCAGCAGCGGGTATG -3'
(R):5'- AACTGTAGCTTTTCCCAAACCC -3'
Sequencing Primer
(F):5'- CTAGTCGCAGGGTCTCT -3'
(R):5'- AAACCCTGCCCTCACTTTTATCTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation