Incidental Mutation 'R4293:Tmem237'
| ID |
323145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem237
|
| Ensembl Gene |
ENSMUSG00000038079 |
| Gene Name |
transmembrane protein 237 |
| Synonyms |
Als2cr4, LOC381259 |
| MMRRC Submission |
041082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R4293 (G1)
|
| Quality Score |
225 |
|
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]
[ENSMUST00000186395]
[ENSMUST00000186794]
[ENSMUST00000186477]
[ENSMUST00000190014]
[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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,915,468 (GRCm39) |
E428G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,732,211 (GRCm39) |
I1600T |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,697,713 (GRCm39) |
|
probably benign |
Het |
| Asgr2 |
C |
A |
11: 69,989,057 (GRCm39) |
T167K |
probably benign |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,645,556 (GRCm39) |
M142L |
probably benign |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,382,308 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,299 (GRCm39) |
D24G |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,300,993 (GRCm39) |
R2767G |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,121 (GRCm39) |
T309A |
probably benign |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,720 (GRCm39) |
L713P |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fnbp1 |
A |
G |
2: 30,995,362 (GRCm39) |
F24S |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,710 (GRCm39) |
|
probably benign |
Het |
| Gmps |
A |
G |
3: 63,898,040 (GRCm39) |
M275V |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,892 (GRCm39) |
|
probably null |
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 |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,824,171 (GRCm39) |
D164G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,051,453 (GRCm39) |
T349S |
probably benign |
Het |
| Or1ad6 |
T |
C |
11: 50,860,253 (GRCm39) |
M136T |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
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 |
| Pik3c3 |
G |
A |
18: 30,477,043 (GRCm39) |
A855T |
probably damaging |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,147,500 (GRCm39) |
D13E |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc4a5 |
C |
T |
6: 83,237,511 (GRCm39) |
R165C |
probably damaging |
Het |
| Slfn10-ps |
T |
C |
11: 82,926,260 (GRCm39) |
|
noncoding transcript |
Het |
| Slfn9 |
T |
C |
11: 82,873,334 (GRCm39) |
N523S |
probably benign |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,848,693 (GRCm39) |
T49A |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,084,318 (GRCm39) |
I954V |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,188,542 (GRCm39) |
F366S |
possibly damaging |
Het |
| Zfp317 |
A |
G |
9: 19,557,990 (GRCm39) |
|
probably null |
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 |
|
|
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'- GGCGGAGACTAAATTCCCAAC -3'
(R):5'- CCGGTGGGGAGTTTGAATAC -3'
Sequencing Primer
(F):5'- CAGCTCAAAAGTACCTGAGGCTC -3'
(R):5'- TTGAATACGAGTCTGGTCCCGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation