Incidental Mutation 'R0112:Tmem131l'
ID |
20492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
038398-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R0112 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 83847894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 324
(Q324*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000052342
AA Change: Q324*
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: Q324*
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 null
Transcript: ENSMUST00000191758
AA Change: Q324*
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: Q324*
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 null
Transcript: ENSMUST00000192095
AA Change: Q324*
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: Q324*
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194522
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 96.0%
- 20x: 91.8%
|
Validation Efficiency |
100% (86/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
A |
2: 35,244,815 (GRCm39) |
Y179F |
probably benign |
Het |
Abcd4 |
A |
G |
12: 84,659,673 (GRCm39) |
|
probably benign |
Het |
Abhd12b |
C |
T |
12: 70,227,791 (GRCm39) |
T191M |
probably benign |
Het |
Adcy5 |
A |
G |
16: 34,976,548 (GRCm39) |
E27G |
possibly damaging |
Het |
Adgb |
G |
A |
10: 10,282,902 (GRCm39) |
|
probably benign |
Het |
Afdn |
T |
C |
17: 14,104,899 (GRCm39) |
S1186P |
probably damaging |
Het |
Atf6b |
G |
T |
17: 34,870,600 (GRCm39) |
R351L |
probably damaging |
Het |
Axin2 |
T |
C |
11: 108,830,223 (GRCm39) |
S348P |
possibly damaging |
Het |
Bfsp1 |
A |
C |
2: 143,669,563 (GRCm39) |
|
probably null |
Het |
Brd1 |
A |
G |
15: 88,614,586 (GRCm39) |
V103A |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,642,547 (GRCm39) |
K392N |
probably damaging |
Het |
Ccdc18 |
A |
G |
5: 108,321,627 (GRCm39) |
K577R |
probably damaging |
Het |
Csmd2 |
G |
T |
4: 128,389,822 (GRCm39) |
G2186C |
probably damaging |
Het |
Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
Defb3 |
T |
A |
8: 19,343,423 (GRCm39) |
L12Q |
probably null |
Het |
Defb7 |
G |
T |
8: 19,545,186 (GRCm39) |
|
probably null |
Het |
Dhx35 |
T |
A |
2: 158,682,540 (GRCm39) |
M491K |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,965,260 (GRCm39) |
S2261G |
possibly damaging |
Het |
Dnah5 |
A |
C |
15: 28,263,825 (GRCm39) |
E853D |
probably benign |
Het |
Dner |
C |
A |
1: 84,560,774 (GRCm39) |
A23S |
probably benign |
Het |
Dock5 |
A |
C |
14: 68,057,090 (GRCm39) |
S539A |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,716,099 (GRCm39) |
F317I |
probably benign |
Het |
Enox1 |
A |
T |
14: 77,936,638 (GRCm39) |
I539F |
possibly damaging |
Het |
Eogt |
G |
A |
6: 97,112,245 (GRCm39) |
|
probably benign |
Het |
Fbxo22 |
A |
G |
9: 55,130,630 (GRCm39) |
T300A |
probably benign |
Het |
Fes |
T |
C |
7: 80,033,753 (GRCm39) |
D166G |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,648,812 (GRCm39) |
S1366P |
probably damaging |
Het |
Fndc3a |
A |
T |
14: 72,777,935 (GRCm39) |
|
probably benign |
Het |
Foxh1 |
T |
C |
15: 76,553,210 (GRCm39) |
H168R |
probably benign |
Het |
Galnt14 |
T |
G |
17: 73,881,979 (GRCm39) |
|
probably benign |
Het |
Gdf6 |
A |
G |
4: 9,844,482 (GRCm39) |
D2G |
probably damaging |
Het |
Gp6 |
C |
A |
7: 4,373,183 (GRCm39) |
A247S |
probably benign |
Het |
Gp6 |
G |
C |
7: 4,374,626 (GRCm39) |
P232A |
probably benign |
Het |
Grin2c |
A |
G |
11: 115,141,960 (GRCm39) |
Y820H |
probably damaging |
Het |
Gtf2h4 |
T |
C |
17: 35,981,340 (GRCm39) |
T198A |
possibly damaging |
Het |
Helz |
T |
C |
11: 107,563,774 (GRCm39) |
|
probably benign |
Het |
Htr1d |
A |
G |
4: 136,170,311 (GRCm39) |
E180G |
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,233,429 (GRCm39) |
V1768A |
probably benign |
Het |
Ints10 |
A |
T |
8: 69,279,954 (GRCm39) |
T694S |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lipc |
T |
A |
9: 70,727,709 (GRCm39) |
Y131F |
probably damaging |
Het |
Litaf |
G |
T |
16: 10,784,375 (GRCm39) |
T45K |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,124,629 (GRCm39) |
R363* |
probably null |
Het |
Lrrc37a |
A |
T |
11: 103,391,739 (GRCm39) |
Y1229N |
probably benign |
Het |
Man2a2 |
C |
T |
7: 80,008,024 (GRCm39) |
A943T |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,565,380 (GRCm39) |
Y1030C |
probably damaging |
Het |
Naalad2 |
G |
T |
9: 18,262,743 (GRCm39) |
Y384* |
probably null |
Het |
Nat2 |
C |
T |
8: 67,954,378 (GRCm39) |
Q163* |
probably null |
Het |
Nell2 |
A |
G |
15: 95,329,562 (GRCm39) |
|
probably benign |
Het |
Nphp3 |
C |
T |
9: 103,914,547 (GRCm39) |
H102Y |
possibly damaging |
Het |
Olr1 |
T |
C |
6: 129,465,869 (GRCm39) |
S46G |
possibly damaging |
Het |
Or2y13 |
A |
T |
11: 49,414,961 (GRCm39) |
H137L |
possibly damaging |
Het |
Or52x1 |
A |
T |
7: 104,852,866 (GRCm39) |
M228K |
probably benign |
Het |
Or5b94 |
C |
T |
19: 12,652,121 (GRCm39) |
T184I |
probably benign |
Het |
Parg |
C |
A |
14: 31,924,390 (GRCm39) |
A63E |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,245,714 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
G |
16: 97,544,761 (GRCm39) |
C629R |
probably benign |
Het |
Rnf145 |
A |
G |
11: 44,454,978 (GRCm39) |
T620A |
probably benign |
Het |
Rskr |
T |
C |
11: 78,182,507 (GRCm39) |
|
probably benign |
Het |
Samd9l |
T |
G |
6: 3,376,031 (GRCm39) |
D410A |
possibly damaging |
Het |
Serpinb9f |
A |
T |
13: 33,511,934 (GRCm39) |
|
probably benign |
Het |
Slc19a1 |
T |
C |
10: 76,877,999 (GRCm39) |
I178T |
probably benign |
Het |
Slco1b2 |
A |
T |
6: 141,616,837 (GRCm39) |
Y390F |
probably benign |
Het |
Speg |
A |
G |
1: 75,361,676 (GRCm39) |
E230G |
possibly damaging |
Het |
Tbc1d9 |
C |
A |
8: 83,991,466 (GRCm39) |
|
probably benign |
Het |
Trf |
A |
G |
9: 103,104,155 (GRCm39) |
|
probably benign |
Het |
Trp53 |
T |
G |
11: 69,479,505 (GRCm39) |
Y202D |
probably damaging |
Het |
Trpv1 |
T |
A |
11: 73,144,098 (GRCm39) |
M618K |
probably damaging |
Het |
Trrap |
C |
A |
5: 144,759,571 (GRCm39) |
Y2250* |
probably null |
Het |
Ttc3 |
A |
G |
16: 94,186,181 (GRCm39) |
|
probably benign |
Het |
Ubtfl1 |
T |
G |
9: 18,321,083 (GRCm39) |
S204A |
probably benign |
Het |
Uck2 |
A |
T |
1: 167,055,340 (GRCm39) |
Y203N |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,562,209 (GRCm39) |
L1280* |
probably null |
Het |
Vmn1r178 |
A |
T |
7: 23,593,609 (GRCm39) |
H146L |
possibly damaging |
Het |
Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,691,897 (GRCm39) |
M209V |
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,990,991 (GRCm39) |
T790I |
probably damaging |
Het |
Vmn2r94 |
C |
A |
17: 18,463,866 (GRCm39) |
R808L |
probably benign |
Het |
Zbtb7c |
A |
T |
18: 76,269,962 (GRCm39) |
S17C |
probably damaging |
Het |
Zfp811 |
C |
T |
17: 33,016,738 (GRCm39) |
R434Q |
probably damaging |
Het |
Zkscan6 |
A |
T |
11: 65,705,689 (GRCm39) |
|
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 |
|
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 |
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'- AGGAGGCATCCACAGCCACTTTAG -3'
(R):5'- TTTGTGTGAAGACTGTCAGCGCCC -3'
Sequencing Primer
(F):5'- CCAATGGCTTTGGTTTACAGGAAC -3'
(R):5'- AGCGCCCCTTTCTGCTG -3'
|
Posted On |
2013-04-11 |