Incidental Mutation 'R9647:Tmem131l'
ID |
726775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R9647 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83836018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 697
(Y697C)
|
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: Y697C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: Y697C
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: Y697C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: Y697C
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: Y697C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: Y697C
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,195,310 (GRCm39) |
R729L |
probably benign |
Het |
Actr3b |
T |
C |
5: 26,037,408 (GRCm39) |
S295P |
probably benign |
Het |
Alb |
G |
A |
5: 90,620,544 (GRCm39) |
|
probably null |
Het |
Ank2 |
T |
A |
3: 126,792,623 (GRCm39) |
N756I |
possibly damaging |
Het |
Ankar |
A |
G |
1: 72,689,307 (GRCm39) |
Y1275H |
probably damaging |
Het |
Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
Birc6 |
G |
A |
17: 74,999,305 (GRCm39) |
V4678M |
probably damaging |
Het |
Bmpr1a |
A |
G |
14: 34,136,694 (GRCm39) |
V499A |
probably benign |
Het |
Ccdc142 |
A |
G |
6: 83,079,259 (GRCm39) |
N199D |
probably benign |
Het |
Ccdc179 |
G |
T |
7: 51,663,311 (GRCm39) |
Y38* |
probably null |
Het |
Cdhr2 |
A |
T |
13: 54,867,394 (GRCm39) |
M438L |
probably benign |
Het |
Cfap74 |
A |
T |
4: 155,549,373 (GRCm39) |
Q78L |
unknown |
Het |
Crocc |
A |
T |
4: 140,774,335 (GRCm39) |
S155T |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,081,567 (GRCm39) |
H576Q |
possibly damaging |
Het |
Dhx30 |
A |
T |
9: 109,922,214 (GRCm39) |
L156Q |
probably damaging |
Het |
Dido1 |
T |
A |
2: 180,315,068 (GRCm39) |
T795S |
probably benign |
Het |
Dlx1 |
T |
C |
2: 71,360,476 (GRCm39) |
S47P |
probably benign |
Het |
Dspp |
G |
A |
5: 104,323,636 (GRCm39) |
A260T |
possibly damaging |
Het |
Ephx2 |
T |
C |
14: 66,326,957 (GRCm39) |
T413A |
probably benign |
Het |
Erp44 |
A |
C |
4: 48,205,166 (GRCm39) |
L276V |
probably benign |
Het |
Fastkd5 |
T |
A |
2: 130,457,729 (GRCm39) |
Q287L |
probably damaging |
Het |
Foxh1 |
T |
A |
15: 76,553,460 (GRCm39) |
H114L |
possibly damaging |
Het |
Fry |
A |
T |
5: 150,292,984 (GRCm39) |
L410F |
probably damaging |
Het |
Gamt |
T |
A |
10: 80,095,672 (GRCm39) |
H86L |
probably damaging |
Het |
Gdpd5 |
G |
T |
7: 99,104,241 (GRCm39) |
R483L |
probably benign |
Het |
Gm17067 |
A |
C |
7: 42,357,569 (GRCm39) |
V311G |
probably benign |
Het |
Gpatch2 |
C |
T |
1: 187,054,542 (GRCm39) |
T422I |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,901,879 (GRCm39) |
I546T |
probably damaging |
Het |
Gyg1 |
A |
C |
3: 20,177,007 (GRCm39) |
S328A |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,441,679 (GRCm39) |
V1491E |
probably benign |
Het |
Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
Ildr2 |
T |
C |
1: 166,137,038 (GRCm39) |
S626P |
probably benign |
Het |
Insr |
T |
G |
8: 3,205,874 (GRCm39) |
E1305A |
probably benign |
Het |
Iqca1 |
T |
A |
1: 89,998,258 (GRCm39) |
T572S |
probably benign |
Het |
Kdm4a |
A |
T |
4: 118,003,790 (GRCm39) |
M762K |
probably benign |
Het |
Kdm4a |
T |
A |
4: 118,017,399 (GRCm39) |
T556S |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,024,170 (GRCm39) |
I89M |
|
Het |
Larp7 |
T |
C |
3: 127,334,211 (GRCm39) |
K539E |
probably damaging |
Het |
Mmadhc |
C |
A |
2: 50,186,482 (GRCm39) |
|
probably benign |
Het |
Mmp2 |
A |
G |
8: 93,567,114 (GRCm39) |
D478G |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,578,538 (GRCm39) |
Q222R |
probably benign |
Het |
Nlgn1 |
A |
T |
3: 25,488,182 (GRCm39) |
Y718N |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,107,576 (GRCm39) |
E83V |
probably benign |
Het |
Odc1 |
T |
C |
12: 17,598,614 (GRCm39) |
V218A |
possibly damaging |
Het |
Or10al4 |
A |
T |
17: 38,037,796 (GRCm39) |
I294F |
probably damaging |
Het |
Or11g26 |
G |
C |
14: 50,753,552 (GRCm39) |
R297T |
probably damaging |
Het |
Or9r3 |
A |
G |
10: 129,948,029 (GRCm39) |
I210T |
probably damaging |
Het |
Oxsr1 |
G |
A |
9: 119,083,932 (GRCm39) |
S324F |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,731,788 (GRCm39) |
T304M |
|
Het |
Pgghg |
A |
G |
7: 140,526,743 (GRCm39) |
R687G |
possibly damaging |
Het |
Plxna4 |
A |
G |
6: 32,228,044 (GRCm39) |
S521P |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,839,917 (GRCm39) |
S172G |
probably damaging |
Het |
Rora |
A |
G |
9: 69,255,450 (GRCm39) |
D78G |
probably damaging |
Het |
Sec1 |
G |
T |
7: 45,328,556 (GRCm39) |
R164S |
probably benign |
Het |
Sesn3 |
A |
G |
9: 14,225,999 (GRCm39) |
N245D |
probably benign |
Het |
Slc44a5 |
T |
A |
3: 153,953,370 (GRCm39) |
W251R |
possibly damaging |
Het |
Ssr2 |
T |
C |
3: 88,487,206 (GRCm39) |
V7A |
possibly damaging |
Het |
Syne2 |
A |
G |
12: 76,151,875 (GRCm39) |
D1912G |
possibly damaging |
Het |
Tcea2 |
C |
A |
2: 181,322,984 (GRCm39) |
T1N |
probably benign |
Het |
Tmx4 |
T |
C |
2: 134,481,588 (GRCm39) |
M112V |
probably benign |
Het |
Tom1 |
G |
T |
8: 75,785,495 (GRCm39) |
A330S |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,765,616 (GRCm39) |
L361* |
probably null |
Het |
Trmt9b |
T |
C |
8: 36,979,210 (GRCm39) |
I271T |
probably benign |
Het |
Trp73 |
T |
G |
4: 154,165,788 (GRCm39) |
T142P |
probably damaging |
Het |
Trpm5 |
T |
A |
7: 142,634,498 (GRCm39) |
D683V |
possibly damaging |
Het |
Trpm7 |
T |
C |
2: 126,667,562 (GRCm39) |
I810V |
probably damaging |
Het |
Trps1 |
A |
T |
15: 50,524,944 (GRCm39) |
S995R |
probably benign |
Het |
Ttn |
C |
A |
2: 76,608,269 (GRCm39) |
E17885* |
probably null |
Het |
Uggt2 |
A |
T |
14: 119,256,312 (GRCm39) |
Y1120N |
probably damaging |
Het |
Unc13a |
A |
T |
8: 72,104,882 (GRCm39) |
N793K |
probably damaging |
Het |
Vcf1 |
T |
C |
11: 113,568,146 (GRCm39) |
D103G |
probably damaging |
Het |
Vmn2r94 |
T |
C |
17: 18,463,884 (GRCm39) |
H802R |
probably benign |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,697,171 (GRCm39) |
C743R |
probably damaging |
Het |
Zdhhc5 |
A |
T |
2: 84,524,750 (GRCm39) |
M190K |
probably benign |
Het |
Zfp719 |
A |
T |
7: 43,233,602 (GRCm39) |
N7I |
possibly damaging |
Het |
Zfp735 |
A |
G |
11: 73,580,600 (GRCm39) |
Y33C |
probably damaging |
Het |
Zgrf1 |
C |
T |
3: 127,355,251 (GRCm39) |
T159I |
probably benign |
Het |
Zzef1 |
A |
T |
11: 72,760,651 (GRCm39) |
T1325S |
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 |
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 |
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'- GGTGGGACTCTTCTGGGAATATATC -3'
(R):5'- CTACCCTCCATTGGTGAGGATG -3'
Sequencing Primer
(F):5'- GGCTGAGTGAAATATGCTCCC -3'
(R):5'- TCCATTGGTGAGGATGGAGTGAAAC -3'
|
Posted On |
2022-10-06 |