Incidental Mutation 'R8793:Tmem237'
| ID |
671031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem237
|
| Ensembl Gene |
ENSMUSG00000038079 |
| Gene Name |
transmembrane protein 237 |
| Synonyms |
Als2cr4, LOC381259 |
| MMRRC Submission |
068610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59139749-59159567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59146613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 337
(L337M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087475]
[ENSMUST00000094917]
[ENSMUST00000186395]
[ENSMUST00000186794]
[ENSMUST00000190014]
|
| AlphaFold |
Q3V0J1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087475
AA Change: L313M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: L313M
| 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: L323M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: L323M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM237
|
148 |
391 |
3.4e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186395
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186794
AA Change: L337M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: L337M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM237
|
158 |
406 |
5.2e-95 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,804 (GRCm39) |
D158A |
probably damaging |
Het |
| Acot7 |
G |
A |
4: 152,284,380 (GRCm39) |
V17I |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,375,076 (GRCm39) |
T184A |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,221 (GRCm39) |
D619E |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,492 (GRCm39) |
F1342L |
probably benign |
Het |
| Arfgef1 |
G |
C |
1: 10,212,832 (GRCm39) |
N1696K |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,218,212 (GRCm39) |
D45G |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,231,254 (GRCm39) |
M456L |
probably benign |
Het |
| Bag5 |
A |
T |
12: 111,677,355 (GRCm39) |
I156N |
possibly damaging |
Het |
| Banp |
T |
A |
8: 122,750,743 (GRCm39) |
V478E |
probably benign |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,360,784 (GRCm39) |
K1228M |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,429 (GRCm39) |
K649E |
probably benign |
Het |
| Cpox |
C |
A |
16: 58,493,708 (GRCm39) |
P226Q |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,594,539 (GRCm39) |
S5P |
unknown |
Het |
| Dock2 |
G |
T |
11: 34,451,215 (GRCm39) |
Q837K |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,187,535 (GRCm39) |
I134T |
probably damaging |
Het |
| Gm2832 |
A |
G |
14: 41,003,726 (GRCm39) |
T186A |
|
Het |
| Gm8246 |
T |
C |
14: 16,984,554 (GRCm39) |
E93G |
probably damaging |
Het |
| Grid2ip |
C |
T |
5: 143,363,396 (GRCm39) |
T463M |
probably damaging |
Het |
| Mael |
G |
A |
1: 166,029,257 (GRCm39) |
R389C |
probably benign |
Het |
| Myo9a |
C |
A |
9: 59,791,850 (GRCm39) |
Q1818K |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,419,704 (GRCm39) |
D963G |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,856,490 (GRCm39) |
F8L |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,255 (GRCm39) |
S307P |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,678,731 (GRCm39) |
V895E |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,093,193 (GRCm39) |
T185A |
probably benign |
Het |
| Pip4k2c |
A |
G |
10: 127,042,530 (GRCm39) |
F108L |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,445,614 (GRCm39) |
S497T |
probably damaging |
Het |
| Potefam3b |
G |
A |
8: 21,159,053 (GRCm39) |
V136I |
probably benign |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,887 (GRCm39) |
V653A |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,627 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,764,284 (GRCm39) |
V3072E |
probably damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,025,792 (GRCm39) |
|
probably null |
Het |
| Slc27a5 |
A |
C |
7: 12,723,296 (GRCm39) |
L550R |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,956,815 (GRCm39) |
P815S |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,294,673 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
T |
C |
10: 81,397,152 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,555,506 (GRCm39) |
M30500V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,336,416 (GRCm39) |
F13S |
probably damaging |
Het |
| Ugcg |
A |
C |
4: 59,207,794 (GRCm39) |
K44N |
probably benign |
Het |
| Vmn2r39 |
A |
T |
7: 9,028,149 (GRCm39) |
H407Q |
probably 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 |
|
|
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 |
|
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'- CGGCACTGGGTGGTTACA -3'
(R):5'- CACTATGACTTTTCAAGGTAGAATGTT -3'
Sequencing Primer
(F):5'- ACTGGGTGGTTACAAATCCC -3'
(R):5'- CATGGGTAAAGATGCCTGCTCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation