Incidental Mutation 'R0815:Tmem131l'
ID |
78559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem131l
|
Ensembl Gene |
ENSMUSG00000033767 |
Gene Name |
transmembrane 131 like |
Synonyms |
D930015E06Rik |
MMRRC Submission |
038995-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R0815 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83847879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 329
(S329P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
AlphaFold |
Q3U3D7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052342
AA Change: S329P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000049808 Gene: ENSMUSG00000033767 AA Change: S329P
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 benign
Transcript: ENSMUST00000191758
AA Change: S329P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141438 Gene: ENSMUSG00000033767 AA Change: S329P
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 benign
Transcript: ENSMUST00000192095
AA Change: S329P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000141607 Gene: ENSMUSG00000033767 AA Change: S329P
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 |
0.1479 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.3%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,865,184 (GRCm39) |
|
probably benign |
Het |
Abcf2 |
A |
T |
5: 24,772,268 (GRCm39) |
Y487N |
probably damaging |
Het |
Adcy4 |
T |
C |
14: 56,021,056 (GRCm39) |
Y27C |
probably damaging |
Het |
Atp2a2 |
T |
C |
5: 122,609,299 (GRCm39) |
I188V |
probably benign |
Het |
Cacna1s |
A |
T |
1: 136,040,695 (GRCm39) |
I1231F |
possibly damaging |
Het |
Capn7 |
T |
A |
14: 31,091,714 (GRCm39) |
C704S |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,308,617 (GRCm39) |
T1770K |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,848,748 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
G |
1: 123,360,658 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,656,372 (GRCm39) |
I1571V |
probably benign |
Het |
Eif3j2 |
T |
A |
18: 43,610,036 (GRCm39) |
Y259F |
probably benign |
Het |
Erc2 |
A |
C |
14: 27,747,105 (GRCm39) |
N345T |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,133,573 (GRCm39) |
|
probably benign |
Het |
Frmd8 |
A |
T |
19: 5,915,084 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,381,928 (GRCm39) |
S705P |
probably damaging |
Het |
Gucy1b2 |
T |
C |
14: 62,656,511 (GRCm39) |
D282G |
probably benign |
Het |
H2-Ab1 |
T |
C |
17: 34,486,328 (GRCm39) |
I129T |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,677,582 (GRCm39) |
Y232F |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,096,161 (GRCm39) |
T326S |
probably benign |
Het |
Lrrc8c |
T |
C |
5: 105,756,400 (GRCm39) |
L725P |
probably damaging |
Het |
Map3k19 |
A |
G |
1: 127,762,375 (GRCm39) |
|
probably benign |
Het |
Med31 |
T |
A |
11: 72,104,657 (GRCm39) |
N50I |
probably damaging |
Het |
Myo15b |
T |
G |
11: 115,757,162 (GRCm39) |
|
probably benign |
Het |
Nemp1 |
T |
C |
10: 127,528,893 (GRCm39) |
L199S |
probably damaging |
Het |
Nod2 |
G |
A |
8: 89,399,290 (GRCm39) |
|
probably benign |
Het |
Oga |
C |
T |
19: 45,771,425 (GRCm39) |
A49T |
probably benign |
Het |
Or2ak6 |
A |
G |
11: 58,593,435 (GRCm39) |
R303G |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,840,008 (GRCm39) |
I290V |
probably benign |
Het |
Parva |
G |
A |
7: 112,167,071 (GRCm39) |
V215M |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,114 (GRCm39) |
|
probably benign |
Het |
Plscr1l1 |
A |
T |
9: 92,233,140 (GRCm39) |
I88L |
possibly damaging |
Het |
Ppp1r12c |
G |
T |
7: 4,489,365 (GRCm39) |
Q240K |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,809,466 (GRCm39) |
Y436* |
probably null |
Het |
Ralgapa1 |
C |
A |
12: 55,829,562 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
C |
T |
16: 75,393,525 (GRCm39) |
R74C |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,333,479 (GRCm39) |
V744A |
probably damaging |
Het |
Rsbn1 |
T |
G |
3: 103,861,469 (GRCm39) |
S522A |
probably damaging |
Het |
Scel |
T |
A |
14: 103,823,916 (GRCm39) |
S381R |
possibly damaging |
Het |
Sec31b |
G |
A |
19: 44,506,612 (GRCm39) |
Q909* |
probably null |
Het |
Slc38a11 |
T |
A |
2: 65,184,124 (GRCm39) |
I176L |
possibly damaging |
Het |
Slc39a4 |
C |
T |
15: 76,496,839 (GRCm39) |
D574N |
probably damaging |
Het |
Slc44a1 |
T |
G |
4: 53,536,421 (GRCm39) |
V199G |
possibly damaging |
Het |
Sltm |
A |
G |
9: 70,469,190 (GRCm39) |
T150A |
probably benign |
Het |
Son |
C |
A |
16: 91,452,372 (GRCm39) |
A373D |
probably damaging |
Het |
Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
Speg |
A |
G |
1: 75,392,036 (GRCm39) |
Y1606C |
probably damaging |
Het |
Srgap1 |
A |
T |
10: 121,621,379 (GRCm39) |
V1061D |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,765,908 (GRCm39) |
|
probably null |
Het |
Supt4a |
T |
A |
11: 87,628,409 (GRCm39) |
|
probably benign |
Het |
Teddm1b |
A |
G |
1: 153,750,638 (GRCm39) |
K149R |
possibly damaging |
Het |
Thnsl2 |
A |
T |
6: 71,111,208 (GRCm39) |
L220* |
probably null |
Het |
Tinf2 |
G |
A |
14: 55,917,566 (GRCm39) |
P308S |
probably benign |
Het |
Tnf |
T |
C |
17: 35,420,120 (GRCm39) |
|
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,568 (GRCm39) |
T144A |
probably benign |
Het |
Vmn2r94 |
T |
G |
17: 18,477,973 (GRCm39) |
Q146P |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,310,375 (GRCm39) |
S919R |
possibly damaging |
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 |
|
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 |
2013-10-16 |