Incidental Mutation 'R9273:Tmem131l'
| ID |
703073 |
| 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: 0.138)
|
| Stock # |
R9273 (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 C
at 83848244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 302
(V302G)
|
| 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: V302G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: V302G
| 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: V302G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: V302G
| 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: V302G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: V302G
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,033,232 (GRCm39) |
D728G |
probably benign |
Het |
| Adig |
A |
T |
2: 158,347,727 (GRCm39) |
D48V |
probably damaging |
Het |
| Adig |
A |
C |
2: 158,349,890 (GRCm39) |
*57S |
probably null |
Het |
| Amigo3 |
A |
G |
9: 107,932,020 (GRCm39) |
D481G |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,872,968 (GRCm39) |
M628K |
probably damaging |
Het |
| Atoh8 |
A |
G |
6: 72,212,129 (GRCm39) |
L7P |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,115,959 (GRCm39) |
S912P |
probably damaging |
Het |
| Card9 |
T |
A |
2: 26,247,310 (GRCm39) |
I280F |
probably damaging |
Het |
| Ccr9 |
A |
G |
9: 123,609,085 (GRCm39) |
T256A |
probably benign |
Het |
| Cd300lg |
T |
C |
11: 101,939,590 (GRCm39) |
I306T |
probably damaging |
Het |
| Cfap65 |
T |
A |
1: 74,960,769 (GRCm39) |
M734L |
probably benign |
Het |
| Cobll1 |
A |
G |
2: 64,929,356 (GRCm39) |
S657P |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,831,285 (GRCm39) |
N384S |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,191,445 (GRCm39) |
V209D |
possibly damaging |
Het |
| Cwc22 |
A |
T |
2: 77,759,803 (GRCm39) |
D81E |
possibly damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,167,512 (GRCm39) |
P1030L |
possibly damaging |
Het |
| Dcn |
A |
G |
10: 97,343,637 (GRCm39) |
Y199C |
probably damaging |
Het |
| Exosc3 |
A |
T |
4: 45,316,969 (GRCm39) |
I228N |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,062,178 (GRCm39) |
H116R |
probably benign |
Het |
| Fbxo21 |
T |
A |
5: 118,146,108 (GRCm39) |
I577N |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,447,815 (GRCm39) |
Q1206L |
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,503,056 (GRCm39) |
F480L |
probably benign |
Het |
| Fzd5 |
T |
C |
1: 64,775,110 (GRCm39) |
N217S |
possibly damaging |
Het |
| Garem1 |
G |
A |
18: 21,281,274 (GRCm39) |
R361C |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,306,133 (GRCm39) |
M155V |
probably null |
Het |
| Gm7298 |
G |
A |
6: 121,756,604 (GRCm39) |
|
probably benign |
Het |
| Gpr160 |
T |
A |
3: 30,950,038 (GRCm39) |
L37I |
probably benign |
Het |
| Grik1 |
G |
A |
16: 87,848,379 (GRCm39) |
H130Y |
|
Het |
| Hydin |
T |
A |
8: 111,233,580 (GRCm39) |
I1806N |
probably damaging |
Het |
| Isl1 |
A |
T |
13: 116,444,902 (GRCm39) |
C42* |
probably null |
Het |
| Itpr2 |
T |
C |
6: 146,226,529 (GRCm39) |
D1405G |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,711,551 (GRCm39) |
N682D |
probably benign |
Het |
| Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
| Kprp |
A |
C |
3: 92,733,000 (GRCm39) |
C17G |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,088,225 (GRCm39) |
|
probably benign |
Het |
| Mrgpra2a |
G |
T |
7: 47,076,307 (GRCm39) |
T317K |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,054,283 (GRCm39) |
V360A |
|
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Oaf |
G |
A |
9: 43,133,966 (GRCm39) |
P252S |
probably benign |
Het |
| Obox2 |
T |
G |
7: 15,131,290 (GRCm39) |
V132G |
unknown |
Het |
| Or51v8 |
T |
A |
7: 103,319,633 (GRCm39) |
T202S |
probably benign |
Het |
| Or52b1 |
A |
G |
7: 104,978,646 (GRCm39) |
L251P |
probably damaging |
Het |
| Or5b109 |
C |
T |
19: 13,212,268 (GRCm39) |
S218L |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,446 (GRCm39) |
T76A |
possibly damaging |
Het |
| Pld2 |
T |
A |
11: 70,448,234 (GRCm39) |
S894T |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,296,364 (GRCm39) |
S1893R |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,472,232 (GRCm39) |
E227G |
possibly damaging |
Het |
| Prox1 |
T |
C |
1: 189,893,242 (GRCm39) |
N401S |
possibly damaging |
Het |
| Prune2 |
T |
C |
19: 17,095,690 (GRCm39) |
V398A |
possibly damaging |
Het |
| Rasgef1a |
A |
G |
6: 118,063,223 (GRCm39) |
N285D |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,420,304 (GRCm39) |
K179R |
probably benign |
Het |
| Rp9 |
G |
A |
9: 22,379,573 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,090 (GRCm39) |
F588L |
probably benign |
Het |
| Sptan1 |
T |
A |
2: 29,880,977 (GRCm39) |
D415E |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,990,901 (GRCm39) |
K593E |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,041,904 (GRCm39) |
T341A |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,670,552 (GRCm39) |
E513G |
probably damaging |
Het |
| Tnip1 |
G |
A |
11: 54,807,783 (GRCm39) |
H553Y |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,021,478 (GRCm39) |
P1048S |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 66,233,306 (GRCm39) |
V215I |
probably damaging |
Het |
| Txnl1 |
G |
A |
18: 63,825,325 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,839,862 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,509,707 (GRCm39) |
W2422R |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,837,721 (GRCm39) |
D727E |
probably damaging |
Het |
| Vmn2r59 |
G |
T |
7: 41,695,286 (GRCm39) |
C375* |
probably null |
Het |
| Vopp1 |
G |
T |
6: 57,731,575 (GRCm39) |
Q139K |
possibly damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,316,005 (GRCm39) |
D579G |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,450,691 (GRCm39) |
Y971H |
probably benign |
Het |
| Zfp354c |
A |
G |
11: 50,706,059 (GRCm39) |
F339L |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,317,610 (GRCm39) |
|
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 |
|
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 |
|
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'- AGGGTGCTCAATCAAGGGAC -3'
(R):5'- ACATAAAACTCTGTCTTTGATCCCC -3'
Sequencing Primer
(F):5'- TGCTCAATCAAGGGACAGTGG -3'
(R):5'- AGCATTGAACTCATCCCTGCATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation