Incidental Mutation 'R8943:Tmem131l'
| ID |
681081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
068782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R8943 (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 83831479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 818
(F818I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052342
AA Change: F818I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: F818I
| 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: F818I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: F818I
| 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: F818I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: F818I
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,667 (GRCm39) |
S457P |
probably damaging |
Het |
| Aak1 |
A |
G |
6: 86,964,234 (GRCm39) |
N945S |
unknown |
Het |
| Actr1a |
C |
A |
19: 46,369,438 (GRCm39) |
R192L |
possibly damaging |
Het |
| Adgrl2 |
T |
A |
3: 148,534,119 (GRCm39) |
N1036I |
probably damaging |
Het |
| Ak5 |
A |
G |
3: 152,361,511 (GRCm39) |
V137A |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,169,055 (GRCm39) |
V179A |
probably damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,237,579 (GRCm39) |
I548F |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,292,550 (GRCm39) |
Y352H |
probably damaging |
Het |
| Atad5 |
C |
T |
11: 79,986,524 (GRCm39) |
T537M |
possibly damaging |
Het |
| Atoh7 |
A |
G |
10: 62,935,938 (GRCm39) |
K2E |
possibly damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,658 (GRCm39) |
I134V |
probably benign |
Het |
| Cadm1 |
T |
C |
9: 47,701,136 (GRCm39) |
I141T |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,454 (GRCm39) |
S351P |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,654,959 (GRCm39) |
|
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,011,330 (GRCm39) |
T284A |
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,432,253 (GRCm39) |
Y47C |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,578,162 (GRCm39) |
M194V |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,652,777 (GRCm39) |
Y721N |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,721,372 (GRCm39) |
Q1880R |
possibly damaging |
Het |
| Dock2 |
T |
C |
11: 34,599,646 (GRCm39) |
N311S |
possibly damaging |
Het |
| Dpysl5 |
G |
T |
5: 30,935,375 (GRCm39) |
M159I |
probably benign |
Het |
| Eif2b3 |
G |
A |
4: 116,901,778 (GRCm39) |
G147E |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,597,796 (GRCm39) |
D531G |
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,555,329 (GRCm39) |
|
probably benign |
Het |
| Foxe3 |
C |
A |
4: 114,782,523 (GRCm39) |
A230S |
unknown |
Het |
| Gm5591 |
A |
T |
7: 38,219,727 (GRCm39) |
V382E |
probably benign |
Het |
| Gm7995 |
A |
T |
14: 42,132,228 (GRCm39) |
N21I |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,676,547 (GRCm39) |
P981S |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,104,486 (GRCm39) |
D161G |
probably benign |
Het |
| Krt71 |
A |
G |
15: 101,645,180 (GRCm39) |
I377T |
possibly damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,767 (GRCm39) |
M374K |
probably benign |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lpcat1 |
A |
G |
13: 73,662,029 (GRCm39) |
T409A |
probably benign |
Het |
| Lrch1 |
A |
T |
14: 75,032,808 (GRCm39) |
I514K |
probably benign |
Het |
| Mc4r |
A |
C |
18: 66,993,110 (GRCm39) |
M1R |
probably null |
Het |
| Mthfd1l |
A |
T |
10: 3,978,466 (GRCm39) |
H442L |
probably damaging |
Het |
| Or5d38 |
T |
A |
2: 87,954,718 (GRCm39) |
I204F |
probably damaging |
Het |
| Pdcd1lg2 |
T |
C |
19: 29,423,553 (GRCm39) |
M199T |
probably benign |
Het |
| Pigg |
G |
A |
5: 108,484,066 (GRCm39) |
V438M |
probably damaging |
Het |
| Pira12 |
T |
C |
7: 3,898,365 (GRCm39) |
E319G |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,920,681 (GRCm39) |
|
probably null |
Het |
| Rbm15 |
T |
A |
3: 107,239,372 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Rhbdl1 |
A |
T |
17: 26,054,116 (GRCm39) |
V278E |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,465,669 (GRCm39) |
N4781S |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,525,206 (GRCm39) |
|
silent |
Het |
| Sfswap |
A |
G |
5: 129,581,168 (GRCm39) |
R114G |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,104,282 (GRCm39) |
A258D |
possibly damaging |
Het |
| Sstr4 |
T |
A |
2: 148,237,782 (GRCm39) |
V131D |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 36,834,861 (GRCm39) |
T45A |
probably damaging |
Het |
| Trappc6b |
A |
G |
12: 59,097,149 (GRCm39) |
F58L |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,035,418 (GRCm39) |
H221L |
possibly damaging |
Het |
| Vmn1r33 |
T |
A |
6: 66,588,783 (GRCm39) |
Y257F |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,993,231 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
C |
T |
7: 12,713,564 (GRCm39) |
Q177* |
probably null |
Het |
| Zup1 |
A |
G |
10: 33,795,301 (GRCm39) |
*552Q |
probably null |
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 |
|
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 |
|
R9097: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'- CTTTACTACTGTGCCTGAGAAGAAG -3'
(R):5'- CCCTGTACTGGGGCATATAAAG -3'
Sequencing Primer
(F):5'- AGGGAGGCGTTTACCTGAC -3'
(R):5'- ATAAAGTTTGTGTGTCCAATGGGCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation