Incidental Mutation 'R8085:Tmem131l'
| ID |
629572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
067518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R8085 (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 83834438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 715
(M715K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052342
AA Change: M715K
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: M715K
| 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 |
possibly damaging
Transcript: ENSMUST00000191758
AA Change: M715K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: M715K
| 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: M715K
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: M715K
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.0%
|
| Validation Efficiency |
99% (81/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
G |
T |
9: 30,854,611 (GRCm39) |
R160L |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,895,185 (GRCm39) |
S908P |
probably benign |
Het |
| AW146154 |
C |
T |
7: 41,130,621 (GRCm39) |
G165D |
possibly damaging |
Het |
| AW146154 |
C |
A |
7: 41,130,622 (GRCm39) |
G165C |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,845,361 (GRCm39) |
G951D |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,435,683 (GRCm39) |
N250D |
probably benign |
Het |
| Coch |
G |
C |
12: 51,650,031 (GRCm39) |
G340A |
possibly damaging |
Het |
| Col18a1 |
A |
G |
10: 76,924,741 (GRCm39) |
V226A |
unknown |
Het |
| Crocc2 |
G |
A |
1: 93,130,578 (GRCm39) |
R953Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,824,558 (GRCm39) |
|
probably null |
Het |
| Disp2 |
C |
T |
2: 118,617,452 (GRCm39) |
L149F |
possibly damaging |
Het |
| Dpt |
T |
C |
1: 164,650,756 (GRCm39) |
F186S |
probably damaging |
Het |
| Eif3l |
T |
G |
15: 78,961,066 (GRCm39) |
Y40D |
probably damaging |
Het |
| Epha3 |
A |
C |
16: 63,403,873 (GRCm39) |
Y743D |
probably damaging |
Het |
| Ercc6l2 |
A |
T |
13: 63,992,367 (GRCm39) |
Y272F |
probably benign |
Het |
| Exoc2 |
G |
A |
13: 31,124,686 (GRCm39) |
L9F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,833,289 (GRCm39) |
T259A |
probably benign |
Het |
| Gm5622 |
A |
T |
14: 51,895,201 (GRCm39) |
K120M |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,679 (GRCm39) |
F2250Y |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,879,427 (GRCm39) |
I4682V |
probably benign |
Het |
| Hnf1a |
T |
C |
5: 115,108,732 (GRCm39) |
T58A |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,140,901 (GRCm39) |
I610F |
possibly damaging |
Het |
| Kif5a |
A |
T |
10: 127,075,178 (GRCm39) |
D478E |
probably benign |
Het |
| Klf13 |
G |
T |
7: 63,541,497 (GRCm39) |
A210E |
probably damaging |
Het |
| Klhl20 |
C |
A |
1: 160,921,354 (GRCm39) |
G543C |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,715 (GRCm39) |
T699A |
possibly damaging |
Het |
| Lgr5 |
A |
T |
10: 115,311,102 (GRCm39) |
D231E |
probably benign |
Het |
| Lonrf1 |
C |
A |
8: 36,715,769 (GRCm39) |
G289W |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,808,894 (GRCm39) |
L188P |
probably damaging |
Het |
| Mab21l2 |
T |
C |
3: 86,455,393 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,303,875 (GRCm39) |
V209A |
possibly damaging |
Het |
| Mctp1 |
A |
C |
13: 76,972,972 (GRCm39) |
R658S |
probably benign |
Het |
| Mdfi |
T |
C |
17: 48,127,042 (GRCm39) |
T178A |
probably damaging |
Het |
| Msln |
T |
A |
17: 25,971,942 (GRCm39) |
K92* |
probably null |
Het |
| Msx3 |
T |
C |
7: 139,627,998 (GRCm39) |
H113R |
unknown |
Het |
| Muc6 |
T |
A |
7: 141,226,729 (GRCm39) |
T1433S |
unknown |
Het |
| Musk |
T |
A |
4: 58,373,110 (GRCm39) |
S693R |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,225,613 (GRCm39) |
K296R |
probably benign |
Het |
| Mylip |
A |
T |
13: 45,563,928 (GRCm39) |
H427L |
possibly damaging |
Het |
| Nradd |
G |
T |
9: 110,451,179 (GRCm39) |
T63K |
possibly damaging |
Het |
| Ntaq1 |
T |
G |
15: 58,015,983 (GRCm39) |
|
probably null |
Het |
| Or5h17 |
A |
G |
16: 58,820,432 (GRCm39) |
N128S |
probably benign |
Het |
| Or5p66 |
G |
T |
7: 107,885,620 (GRCm39) |
Q238K |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,662,521 (GRCm39) |
L187P |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,158,350 (GRCm39) |
D428G |
probably damaging |
Het |
| Oxsm |
G |
T |
14: 16,242,439 (GRCm38) |
S110* |
probably null |
Het |
| Pard6a |
A |
G |
8: 106,429,642 (GRCm39) |
Q230R |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,683,639 (GRCm39) |
W38L |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,905,384 (GRCm39) |
N1093D |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,071,672 (GRCm39) |
Q1240* |
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,730,087 (GRCm39) |
E365G |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,814,462 (GRCm39) |
H1589Q |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,957,528 (GRCm39) |
I152N |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,928,414 (GRCm39) |
P59S |
probably damaging |
Het |
| Smarca4 |
T |
A |
9: 21,570,108 (GRCm39) |
|
probably null |
Het |
| Smim33 |
A |
T |
18: 35,861,573 (GRCm39) |
D19V |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,989,870 (GRCm39) |
Y930C |
probably benign |
Het |
| Speg |
A |
G |
1: 75,391,997 (GRCm39) |
E1593G |
probably damaging |
Het |
| St3gal5 |
G |
T |
6: 72,074,925 (GRCm39) |
A62S |
unknown |
Het |
| Stx1a |
T |
C |
5: 135,066,431 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
A |
10: 5,178,021 (GRCm39) |
I4818F |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,447,366 (GRCm39) |
H588R |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,336,307 (GRCm39) |
Y454C |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,066,753 (GRCm39) |
Y2282H |
probably benign |
Het |
| Tle6 |
A |
T |
10: 81,431,792 (GRCm39) |
W151R |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,764,898 (GRCm39) |
R519* |
probably null |
Het |
| Usp1 |
A |
T |
4: 98,816,578 (GRCm39) |
N93I |
probably damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Vmn1r238 |
A |
G |
18: 3,123,151 (GRCm39) |
Y88H |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,437,270 (GRCm39) |
Y405H |
probably damaging |
Het |
| Vmn2r78 |
A |
G |
7: 86,603,998 (GRCm39) |
I725M |
probably benign |
Het |
| Zfp12 |
C |
T |
5: 143,230,681 (GRCm39) |
T368M |
probably 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 |
|
|
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 |
|
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'- GTTATCCAATGAATGTAGAAGCCC -3'
(R):5'- ATGCCAGTTTGTTAGAAAGCTG -3'
Sequencing Primer
(F):5'- CATGCTGCAGTGCCAAGC -3'
(R):5'- CCAGTTTGTTAGAAAGCTGAACTGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation