Incidental Mutation 'R2245:Tmem237'
| ID |
240616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem237
|
| Ensembl Gene |
ENSMUSG00000038079 |
| Gene Name |
transmembrane protein 237 |
| Synonyms |
Als2cr4, LOC381259 |
| MMRRC Submission |
040245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2245 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59139749-59159567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59147863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 209
(D209E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087475]
[ENSMUST00000094917]
[ENSMUST00000186395]
[ENSMUST00000186794]
[ENSMUST00000190014]
|
| AlphaFold |
Q3V0J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087475
AA Change: D214E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: D214E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
Pfam:TMEM237
|
134 |
382 |
4.4e-95 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094917
AA Change: D224E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: D224E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM237
|
148 |
391 |
3.4e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185951
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186395
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186794
AA Change: D238E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: D238E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM237
|
158 |
406 |
5.2e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186820
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190014
AA Change: D209E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079
AA Change: D209E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM237
|
129 |
230 |
9e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.0899 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,099,308 (GRCm39) |
Q154R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,438,234 (GRCm39) |
L1520P |
probably benign |
Het |
| Brd1 |
A |
G |
15: 88,574,063 (GRCm39) |
|
probably null |
Het |
| Ccdc158 |
A |
G |
5: 92,757,811 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,754,766 (GRCm39) |
V1950F |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,229 (GRCm39) |
I237T |
probably damaging |
Het |
| Ddah2 |
T |
C |
17: 35,280,561 (GRCm39) |
L234P |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
C |
9: 101,873,973 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myadml2 |
A |
T |
11: 120,538,656 (GRCm39) |
F60I |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,399,925 (GRCm39) |
V2893A |
probably damaging |
Het |
| Ntn1 |
A |
G |
11: 68,276,120 (GRCm39) |
V276A |
probably benign |
Het |
| Or11h6 |
T |
A |
14: 50,880,062 (GRCm39) |
I102N |
probably damaging |
Het |
| Or4c111 |
A |
T |
2: 88,843,493 (GRCm39) |
I305K |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,765 (GRCm39) |
Y253C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,527,551 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,315,080 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,626,009 (GRCm39) |
S1676P |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,203,047 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,576,345 (GRCm39) |
D305G |
probably benign |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,145 (GRCm39) |
K201E |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 82,991,691 (GRCm39) |
Y439C |
possibly damaging |
Het |
| Son |
G |
T |
16: 91,444,848 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
C |
11: 62,022,713 (GRCm39) |
L710P |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,061,524 (GRCm39) |
D592G |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,423 (GRCm39) |
T659A |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,388 (GRCm39) |
I734N |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 64,057,980 (GRCm39) |
I1270F |
possibly damaging |
Het |
|
| Other mutations in Tmem237 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Tmem237
|
APN |
1 |
59,146,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02184:Tmem237
|
APN |
1 |
59,159,270 (GRCm39) |
splice site |
probably null |
|
|
IGL03156:Tmem237
|
APN |
1 |
59,148,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Tmem237
|
UTSW |
1 |
59,146,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Tmem237
|
UTSW |
1 |
59,153,253 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0981:Tmem237
|
UTSW |
1 |
59,157,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Tmem237
|
UTSW |
1 |
59,148,265 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2061:Tmem237
|
UTSW |
1 |
59,159,445 (GRCm39) |
unclassified |
probably benign |
|
|
R4290:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
|
R4293:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
|
R4294:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
|
R6793:Tmem237
|
UTSW |
1 |
59,153,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7062:Tmem237
|
UTSW |
1 |
59,158,771 (GRCm39) |
splice site |
probably null |
|
|
R7632:Tmem237
|
UTSW |
1 |
59,156,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8313:Tmem237
|
UTSW |
1 |
59,147,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8723:Tmem237
|
UTSW |
1 |
59,145,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8793:Tmem237
|
UTSW |
1 |
59,146,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8934:Tmem237
|
UTSW |
1 |
59,153,338 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9427:Tmem237
|
UTSW |
1 |
59,159,213 (GRCm39) |
unclassified |
probably benign |
|
|
R9529:Tmem237
|
UTSW |
1 |
59,147,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Tmem237
|
UTSW |
1 |
59,159,146 (GRCm39) |
missense |
probably benign |
|
|
R9797:Tmem237
|
UTSW |
1 |
59,144,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tmem237
|
UTSW |
1 |
59,155,088 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1176:Tmem237
|
UTSW |
1 |
59,155,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAAGTGGAATGTCTACAAAAC -3'
(R):5'- GATAGTTCTGATGACCTGAGTGAAGG -3'
Sequencing Primer
(F):5'- CAGAACAACCAAGGCTTTTT -3'
(R):5'- TGACACACAAAACTAGTCATTATGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation