Incidental Mutation 'IGL02184:Tmem237'
| ID |
284284 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem237
|
| Ensembl Gene |
ENSMUSG00000038079 |
| Gene Name |
transmembrane protein 237 |
| Synonyms |
Als2cr4, LOC381259 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL02184
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
59139749-59159567 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 59159270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066374]
[ENSMUST00000078874]
[ENSMUST00000087475]
[ENSMUST00000094917]
[ENSMUST00000114275]
[ENSMUST00000186395]
[ENSMUST00000190014]
[ENSMUST00000186794]
[ENSMUST00000186477]
[ENSMUST00000191200]
|
| 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 |
probably benign
Transcript: ENSMUST00000186395
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000190014
|
| SMART Domains |
Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM237
|
129 |
230 |
9e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189096
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186820
|
| 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: 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
C |
T |
3: 89,253,241 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
G |
13: 63,215,925 (GRCm39) |
I399S |
possibly damaging |
Het |
| Atp8b3 |
A |
C |
10: 80,363,067 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,815,029 (GRCm39) |
M1417K |
probably damaging |
Het |
| Camk2d |
A |
T |
3: 126,591,422 (GRCm39) |
R297S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,069,191 (GRCm39) |
H215L |
probably damaging |
Het |
| Cytip |
T |
C |
2: 58,023,750 (GRCm39) |
S357G |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,951 (GRCm39) |
R101G |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,006,872 (GRCm39) |
Y273H |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,858,885 (GRCm39) |
S57G |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,655 (GRCm39) |
L141Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,675,650 (GRCm39) |
T388M |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,666,066 (GRCm39) |
L589P |
possibly damaging |
Het |
| Kiz |
T |
C |
2: 146,731,520 (GRCm39) |
S337P |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,388,435 (GRCm39) |
I2330K |
unknown |
Het |
| Mdfic |
T |
A |
6: 15,770,366 (GRCm39) |
I124K |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,225,059 (GRCm39) |
S75G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,821,761 (GRCm39) |
|
probably null |
Het |
| Myom1 |
G |
A |
17: 71,379,132 (GRCm39) |
S632N |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,094 (GRCm39) |
K473E |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,099 (GRCm39) |
C28* |
probably null |
Het |
| Nwd2 |
G |
T |
5: 63,963,020 (GRCm39) |
G868V |
probably damaging |
Het |
| Or4a73 |
G |
A |
2: 89,420,637 (GRCm39) |
T274I |
probably damaging |
Het |
| Or4c58 |
G |
A |
2: 89,674,729 (GRCm39) |
A196V |
probably damaging |
Het |
| Or5w1 |
A |
G |
2: 87,487,136 (GRCm39) |
L43P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,258,928 (GRCm39) |
M1559L |
possibly damaging |
Het |
| Pmm2 |
T |
A |
16: 8,455,668 (GRCm39) |
D10E |
possibly damaging |
Het |
| Polm |
T |
C |
11: 5,780,137 (GRCm39) |
Q300R |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,111,467 (GRCm39) |
N1208K |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,648 (GRCm39) |
D291G |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,259,810 (GRCm39) |
K37E |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,578,889 (GRCm39) |
F268S |
probably damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,599,948 (GRCm39) |
Y127H |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,703,506 (GRCm39) |
Y260C |
probably damaging |
Het |
| Sorbs3 |
C |
T |
14: 70,421,455 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,214,917 (GRCm39) |
Y534C |
unknown |
Het |
| Tnfrsf21 |
A |
T |
17: 43,396,354 (GRCm39) |
N546I |
probably benign |
Het |
| Tpgs2 |
T |
A |
18: 25,273,630 (GRCm39) |
D177V |
probably damaging |
Het |
| Tpx2 |
C |
T |
2: 152,724,240 (GRCm39) |
R339* |
probably null |
Het |
| Trim12c |
T |
C |
7: 103,997,430 (GRCm39) |
Y42C |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,564,272 (GRCm39) |
E341V |
probably damaging |
Het |
| Trpm8 |
A |
T |
1: 88,258,416 (GRCm39) |
|
probably null |
Het |
| Ubr1 |
T |
A |
2: 120,730,989 (GRCm39) |
I1221F |
probably benign |
Het |
| Ucp2 |
C |
T |
7: 100,148,529 (GRCm39) |
A301V |
probably benign |
Het |
| Zfyve1 |
T |
C |
12: 83,605,467 (GRCm39) |
I411V |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation