Incidental Mutation 'R4294:Tmem237'
ID |
323198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem237
|
Ensembl Gene |
ENSMUSG00000038079 |
Gene Name |
transmembrane protein 237 |
Synonyms |
Als2cr4, LOC381259 |
MMRRC Submission |
041083-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R4294 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
59139749-59159567 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 59158995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066374]
[ENSMUST00000078874]
[ENSMUST00000087475]
[ENSMUST00000094917]
[ENSMUST00000114275]
[ENSMUST00000186794]
[ENSMUST00000186477]
[ENSMUST00000190014]
[ENSMUST00000191200]
[ENSMUST00000186395]
|
AlphaFold |
Q3V0J1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066374
|
SMART Domains |
Protein: ENSMUSP00000070711 Gene: ENSMUSG00000079550
Domain | Start | End | E-Value | Type |
L27
|
27 |
82 |
4.02e-9 |
SMART |
L27
|
86 |
139 |
2.49e-14 |
SMART |
PDZ
|
161 |
234 |
3.57e-11 |
SMART |
SH3
|
244 |
310 |
2.94e-5 |
SMART |
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
GuKc
|
425 |
618 |
1.21e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078874
|
SMART Domains |
Protein: ENSMUSP00000077914 Gene: ENSMUSG00000079550
Domain | Start | End | E-Value | Type |
L27
|
27 |
82 |
4.02e-9 |
SMART |
L27
|
86 |
139 |
2.49e-14 |
SMART |
PDZ
|
161 |
234 |
3.57e-11 |
SMART |
SH3
|
244 |
310 |
2.94e-5 |
SMART |
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
GuKc
|
425 |
618 |
1.21e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000087475
|
SMART Domains |
Protein: ENSMUSP00000084745 Gene: ENSMUSG00000038079
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 benign
Transcript: ENSMUST00000094917
|
SMART Domains |
Protein: ENSMUSP00000092522 Gene: ENSMUSG00000038079
Domain | Start | End | E-Value | Type |
Pfam:TMEM237
|
148 |
391 |
3.4e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114275
|
SMART Domains |
Protein: ENSMUSP00000109914 Gene: ENSMUSG00000079550
Domain | Start | End | E-Value | Type |
L27
|
46 |
101 |
4.02e-9 |
SMART |
L27
|
105 |
158 |
2.49e-14 |
SMART |
PDZ
|
180 |
253 |
3.57e-11 |
SMART |
SH3
|
263 |
329 |
2.94e-5 |
SMART |
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
low complexity region
|
416 |
425 |
N/A |
INTRINSIC |
GuKc
|
444 |
637 |
1.21e-50 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189096
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186820
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187825
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188494
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186794
|
SMART Domains |
Protein: ENSMUSP00000139823 Gene: ENSMUSG00000038079
Domain | Start | End | E-Value | Type |
Pfam:TMEM237
|
158 |
406 |
5.2e-95 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186477
|
SMART Domains |
Protein: ENSMUSP00000140352 Gene: ENSMUSG00000079550
Domain | Start | End | E-Value | Type |
L27
|
27 |
82 |
1.3e-11 |
SMART |
L27
|
86 |
139 |
8.6e-17 |
SMART |
PDZ
|
161 |
234 |
1.8e-13 |
SMART |
SH3
|
222 |
297 |
5.1e-4 |
SMART |
low complexity region
|
353 |
362 |
N/A |
INTRINSIC |
GuKc
|
381 |
574 |
5.8e-53 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190014
|
SMART Domains |
Protein: ENSMUSP00000140134 Gene: ENSMUSG00000038079
Domain | Start | End | E-Value | Type |
Pfam:TMEM237
|
129 |
230 |
9e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191200
|
SMART Domains |
Protein: ENSMUSP00000140957 Gene: ENSMUSG00000079550
Domain | Start | End | E-Value | Type |
L27
|
27 |
82 |
4.02e-9 |
SMART |
L27
|
86 |
139 |
2.49e-14 |
SMART |
PDZ
|
161 |
234 |
3.57e-11 |
SMART |
SH3
|
244 |
310 |
2.94e-5 |
SMART |
low complexity region
|
342 |
356 |
N/A |
INTRINSIC |
low complexity region
|
391 |
400 |
N/A |
INTRINSIC |
GuKc
|
419 |
612 |
1.21e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186395
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
98% (44/45) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059E24Rik |
A |
T |
19: 21,576,113 (GRCm39) |
|
probably null |
Het |
Abca3 |
A |
G |
17: 24,619,543 (GRCm39) |
I960M |
possibly damaging |
Het |
Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
Bsnd |
C |
T |
4: 106,342,355 (GRCm39) |
R271H |
probably benign |
Het |
Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
Clip2 |
A |
C |
5: 134,521,167 (GRCm39) |
V957G |
probably benign |
Het |
Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
Dlc1 |
A |
G |
8: 37,051,907 (GRCm39) |
V608A |
possibly damaging |
Het |
Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
Dock3 |
T |
A |
9: 106,807,242 (GRCm39) |
R1362W |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Gimap8 |
A |
T |
6: 48,635,891 (GRCm39) |
H552L |
probably benign |
Het |
Gpr151 |
T |
C |
18: 42,711,602 (GRCm39) |
T359A |
probably benign |
Het |
Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
Magel2 |
T |
G |
7: 62,028,515 (GRCm39) |
V473G |
possibly damaging |
Het |
Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
Nat8f1 |
T |
C |
6: 85,887,637 (GRCm39) |
T108A |
probably benign |
Het |
Nphp3 |
T |
A |
9: 103,899,916 (GRCm39) |
L502Q |
probably damaging |
Het |
Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,346,939 (GRCm39) |
D171G |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
Rpl27-ps3 |
T |
A |
18: 6,332,607 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
G |
5: 113,433,270 (GRCm39) |
Y182H |
probably damaging |
Het |
Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
Thrb |
C |
T |
14: 18,011,145 (GRCm38) |
Q174* |
probably null |
Het |
Ticam1 |
A |
G |
17: 56,578,339 (GRCm39) |
I252T |
probably benign |
Het |
Trpv1 |
C |
T |
11: 73,131,290 (GRCm39) |
A276V |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
Vmn2r74 |
T |
A |
7: 85,606,624 (GRCm39) |
I241F |
probably benign |
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 |
|
R2245:Tmem237
|
UTSW |
1 |
59,147,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
R4293: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'- GGCGGAGACTAAATTCCCAAC -3'
(R):5'- TCGGTCAGAGAGGAGGATGTTC -3'
Sequencing Primer
(F):5'- CAGCTCAAAAGTACCTGAGGCTC -3'
(R):5'- TTGAATACGAGTCTGGTCCCGC -3'
|
Posted On |
2015-06-20 |