Incidental Mutation 'R9097:Tmem131l'
ID |
691398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
068912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R9097 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83850122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 225
(N225K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141438
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052342
AA Change: N225K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: N225K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:TMEM131_like
|
91 |
174 |
5.8e-20 |
PFAM |
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
990 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1239 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191758
AA Change: N225K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: N225K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:DUF3651
|
155 |
228 |
9.2e-10 |
PFAM |
Pfam:DUF3651
|
285 |
362 |
1.5e-9 |
PFAM |
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
990 |
997 |
N/A |
INTRINSIC |
low complexity region
|
1221 |
1239 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192095
AA Change: N225K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: N225K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
Pfam:DUF3651
|
155 |
228 |
8.8e-10 |
PFAM |
Pfam:DUF3651
|
285 |
362 |
1.4e-9 |
PFAM |
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
low complexity region
|
989 |
996 |
N/A |
INTRINSIC |
low complexity region
|
1220 |
1238 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxrl |
G |
A |
14: 33,793,660 (GRCm39) |
V463I |
probably benign |
Het |
Aox1 |
T |
A |
1: 58,326,887 (GRCm39) |
L162Q |
possibly damaging |
Het |
Arhgap40 |
A |
T |
2: 158,389,584 (GRCm39) |
M586L |
probably benign |
Het |
Arnt |
G |
T |
3: 95,397,588 (GRCm39) |
S535I |
probably benign |
Het |
Bsx |
G |
T |
9: 40,785,636 (GRCm39) |
G55C |
probably damaging |
Het |
Ccdc168 |
T |
C |
1: 44,098,049 (GRCm39) |
I1016M |
possibly damaging |
Het |
Col9a1 |
A |
T |
1: 24,224,207 (GRCm39) |
I130F |
unknown |
Het |
Cyp51 |
G |
T |
5: 4,149,172 (GRCm39) |
T235N |
possibly damaging |
Het |
Depdc1a |
T |
A |
3: 159,204,117 (GRCm39) |
D55E |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,080,721 (GRCm39) |
I10N |
probably benign |
Het |
Dzank1 |
G |
T |
2: 144,316,882 (GRCm39) |
L767I |
possibly damaging |
Het |
Eif3k |
A |
T |
7: 28,671,660 (GRCm39) |
*193K |
probably null |
Het |
Eprs1 |
C |
A |
1: 185,139,303 (GRCm39) |
A896E |
probably benign |
Het |
Evc2 |
T |
A |
5: 37,550,505 (GRCm39) |
F840I |
possibly damaging |
Het |
Fut2 |
G |
T |
7: 45,300,375 (GRCm39) |
H132Q |
probably benign |
Het |
Gbp11 |
T |
C |
5: 105,474,347 (GRCm39) |
*443W |
probably null |
Het |
Gimd1 |
T |
A |
3: 132,340,661 (GRCm39) |
M59K |
probably benign |
Het |
Glis2 |
A |
G |
16: 4,429,640 (GRCm39) |
T228A |
probably damaging |
Het |
Gm21663 |
G |
C |
5: 26,147,167 (GRCm39) |
C46W |
probably benign |
Het |
Gpr162 |
A |
G |
6: 124,836,570 (GRCm39) |
I367T |
probably benign |
Het |
Grik1 |
G |
A |
16: 87,732,796 (GRCm39) |
T692I |
|
Het |
Igf2r |
G |
T |
17: 12,910,100 (GRCm39) |
A2043D |
probably damaging |
Het |
Il12b |
C |
A |
11: 44,301,107 (GRCm39) |
L208M |
probably benign |
Het |
Il12b |
T |
A |
11: 44,301,108 (GRCm39) |
L208Q |
probably damaging |
Het |
Lrrk2 |
C |
T |
15: 91,557,459 (GRCm39) |
|
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,819,855 (GRCm39) |
D133G |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,231,398 (GRCm39) |
D777G |
probably damaging |
Het |
Mtrr |
A |
G |
13: 68,723,441 (GRCm39) |
L157P |
probably benign |
Het |
Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
Or4f7 |
T |
A |
2: 111,644,196 (GRCm39) |
K292* |
probably null |
Het |
Or51f23c-ps1 |
A |
G |
7: 102,431,475 (GRCm39) |
H264R |
probably damaging |
Het |
Or5p73 |
A |
T |
7: 108,064,815 (GRCm39) |
I95F |
probably damaging |
Het |
Or6c7 |
T |
A |
10: 129,323,647 (GRCm39) |
M256K |
possibly damaging |
Het |
Or7g22 |
G |
A |
9: 19,048,670 (GRCm39) |
C127Y |
probably damaging |
Het |
Or9g8 |
T |
A |
2: 85,607,669 (GRCm39) |
V247E |
probably damaging |
Het |
Pkn2 |
C |
T |
3: 142,515,249 (GRCm39) |
R695Q |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 4,906,012 (GRCm39) |
D189G |
probably damaging |
Het |
Prkca |
A |
G |
11: 107,905,061 (GRCm39) |
S226P |
probably benign |
Het |
Ptpru |
T |
C |
4: 131,499,843 (GRCm39) |
N1267S |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,638,980 (GRCm39) |
|
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,878,577 (GRCm39) |
D189E |
probably benign |
Het |
Serpinb7 |
G |
A |
1: 107,377,907 (GRCm39) |
C200Y |
probably damaging |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Stk32a |
A |
T |
18: 43,446,497 (GRCm39) |
M316L |
possibly damaging |
Het |
Supt6 |
G |
T |
11: 78,113,100 (GRCm39) |
H948N |
probably benign |
Het |
Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
Tasp1 |
A |
T |
2: 139,725,690 (GRCm39) |
|
probably null |
Het |
Telo2 |
T |
C |
17: 25,324,066 (GRCm39) |
T550A |
probably benign |
Het |
Tnc |
T |
C |
4: 63,888,622 (GRCm39) |
T1724A |
possibly damaging |
Het |
Tyk2 |
C |
A |
9: 21,020,072 (GRCm39) |
E1029* |
probably null |
Het |
Uhmk1 |
C |
T |
1: 170,042,879 (GRCm39) |
|
probably benign |
Het |
Vav2 |
G |
A |
2: 27,181,850 (GRCm39) |
R330W |
probably damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,300,250 (GRCm39) |
I124N |
probably benign |
Het |
Vmn1r181 |
A |
G |
7: 23,684,444 (GRCm39) |
N303S |
probably benign |
Het |
Vmn1r50 |
G |
A |
6: 90,085,022 (GRCm39) |
V256I |
probably benign |
Het |
|
Other mutations in Tmem131l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00229:Tmem131l
|
APN |
3 |
83,849,807 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00777:Tmem131l
|
APN |
3 |
83,806,597 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01400:Tmem131l
|
APN |
3 |
83,829,429 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01642:Tmem131l
|
APN |
3 |
83,845,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01796:Tmem131l
|
APN |
3 |
83,845,362 (GRCm39) |
nonsense |
probably null |
|
IGL02055:Tmem131l
|
APN |
3 |
83,817,673 (GRCm39) |
splice site |
probably null |
|
IGL02269:Tmem131l
|
APN |
3 |
83,845,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02806:Tmem131l
|
APN |
3 |
83,836,123 (GRCm39) |
splice site |
probably benign |
|
IGL03308:Tmem131l
|
APN |
3 |
83,848,209 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03345:Tmem131l
|
APN |
3 |
83,868,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R0106:Tmem131l
|
UTSW |
3 |
83,842,122 (GRCm39) |
splice site |
probably benign |
|
R0112:Tmem131l
|
UTSW |
3 |
83,847,894 (GRCm39) |
nonsense |
probably null |
|
R0212:Tmem131l
|
UTSW |
3 |
83,820,575 (GRCm39) |
missense |
probably benign |
0.19 |
R0328:Tmem131l
|
UTSW |
3 |
83,829,238 (GRCm39) |
splice site |
probably benign |
|
R0412:Tmem131l
|
UTSW |
3 |
83,938,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0544:Tmem131l
|
UTSW |
3 |
83,805,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R0676:Tmem131l
|
UTSW |
3 |
83,842,122 (GRCm39) |
splice site |
probably benign |
|
R0815:Tmem131l
|
UTSW |
3 |
83,847,879 (GRCm39) |
missense |
probably benign |
0.01 |
R0826:Tmem131l
|
UTSW |
3 |
83,805,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Tmem131l
|
UTSW |
3 |
83,836,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R1582:Tmem131l
|
UTSW |
3 |
83,839,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Tmem131l
|
UTSW |
3 |
83,848,196 (GRCm39) |
critical splice donor site |
probably null |
|
R1804:Tmem131l
|
UTSW |
3 |
83,817,786 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1875:Tmem131l
|
UTSW |
3 |
83,812,383 (GRCm39) |
nonsense |
probably null |
|
R1955:Tmem131l
|
UTSW |
3 |
83,868,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Tmem131l
|
UTSW |
3 |
83,850,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Tmem131l
|
UTSW |
3 |
83,850,058 (GRCm39) |
critical splice donor site |
probably null |
|
R2173:Tmem131l
|
UTSW |
3 |
83,833,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R2321:Tmem131l
|
UTSW |
3 |
83,843,330 (GRCm39) |
missense |
probably damaging |
0.98 |
R2407:Tmem131l
|
UTSW |
3 |
83,829,355 (GRCm39) |
missense |
probably benign |
0.25 |
R2917:Tmem131l
|
UTSW |
3 |
83,844,887 (GRCm39) |
nonsense |
probably null |
|
R3082:Tmem131l
|
UTSW |
3 |
83,816,457 (GRCm39) |
critical splice donor site |
probably null |
|
R3086:Tmem131l
|
UTSW |
3 |
83,839,046 (GRCm39) |
missense |
probably benign |
0.00 |
R3773:Tmem131l
|
UTSW |
3 |
83,805,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R3921:Tmem131l
|
UTSW |
3 |
83,847,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
R3953:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R3956:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R4118:Tmem131l
|
UTSW |
3 |
83,868,074 (GRCm39) |
missense |
probably benign |
0.00 |
R4700:Tmem131l
|
UTSW |
3 |
83,806,519 (GRCm39) |
missense |
probably benign |
|
R4862:Tmem131l
|
UTSW |
3 |
83,805,517 (GRCm39) |
splice site |
probably benign |
|
R4941:Tmem131l
|
UTSW |
3 |
83,806,546 (GRCm39) |
missense |
probably benign |
0.03 |
R5101:Tmem131l
|
UTSW |
3 |
83,844,811 (GRCm39) |
missense |
probably damaging |
0.96 |
R5290:Tmem131l
|
UTSW |
3 |
83,806,572 (GRCm39) |
missense |
probably benign |
0.30 |
R5501:Tmem131l
|
UTSW |
3 |
83,833,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R5813:Tmem131l
|
UTSW |
3 |
83,847,879 (GRCm39) |
missense |
probably benign |
0.01 |
R5845:Tmem131l
|
UTSW |
3 |
83,847,860 (GRCm39) |
missense |
probably damaging |
0.99 |
R5973:Tmem131l
|
UTSW |
3 |
83,829,553 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6119:Tmem131l
|
UTSW |
3 |
83,805,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6241:Tmem131l
|
UTSW |
3 |
83,829,471 (GRCm39) |
missense |
probably benign |
0.06 |
R6278:Tmem131l
|
UTSW |
3 |
83,849,798 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6490:Tmem131l
|
UTSW |
3 |
83,820,587 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6502:Tmem131l
|
UTSW |
3 |
83,829,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R6503:Tmem131l
|
UTSW |
3 |
83,848,251 (GRCm39) |
missense |
probably benign |
0.26 |
R6868:Tmem131l
|
UTSW |
3 |
83,868,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R7104:Tmem131l
|
UTSW |
3 |
83,826,766 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7736:Tmem131l
|
UTSW |
3 |
83,847,875 (GRCm39) |
missense |
probably damaging |
0.97 |
R7885:Tmem131l
|
UTSW |
3 |
83,817,724 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8085:Tmem131l
|
UTSW |
3 |
83,834,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8164:Tmem131l
|
UTSW |
3 |
83,833,495 (GRCm39) |
nonsense |
probably null |
|
R8478:Tmem131l
|
UTSW |
3 |
83,805,769 (GRCm39) |
missense |
probably damaging |
0.99 |
R8677:Tmem131l
|
UTSW |
3 |
83,836,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R8942:Tmem131l
|
UTSW |
3 |
83,805,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8943:Tmem131l
|
UTSW |
3 |
83,831,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8973:Tmem131l
|
UTSW |
3 |
83,836,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Tmem131l
|
UTSW |
3 |
83,817,775 (GRCm39) |
missense |
probably benign |
0.05 |
R9096:Tmem131l
|
UTSW |
3 |
83,850,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R9143:Tmem131l
|
UTSW |
3 |
83,842,220 (GRCm39) |
missense |
probably benign |
0.14 |
R9273:Tmem131l
|
UTSW |
3 |
83,848,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Tmem131l
|
UTSW |
3 |
83,817,768 (GRCm39) |
missense |
probably benign |
0.00 |
R9400:Tmem131l
|
UTSW |
3 |
83,830,293 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9433:Tmem131l
|
UTSW |
3 |
83,845,459 (GRCm39) |
missense |
probably benign |
0.14 |
R9574:Tmem131l
|
UTSW |
3 |
83,868,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R9647:Tmem131l
|
UTSW |
3 |
83,836,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R9750:Tmem131l
|
UTSW |
3 |
83,831,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R9796:Tmem131l
|
UTSW |
3 |
83,829,402 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Tmem131l
|
UTSW |
3 |
83,947,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTCTAAGACTGCATATTGCTG -3'
(R):5'- GCTTCCTGCCTTACTAGGAAC -3'
Sequencing Primer
(F):5'- ACTGCATATTGCTGGAGAAAAG -3'
(R):5'- GGAACTTTCATTCCTTCCTTGAGAG -3'
|
Posted On |
2021-12-30 |