Incidental Mutation 'R2306:Tmem231'
| ID |
244594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem231
|
| Ensembl Gene |
ENSMUSG00000031951 |
| Gene Name |
transmembrane protein 231 |
| Synonyms |
4932417I16Rik |
| MMRRC Submission |
040305-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2306 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112638639-112660445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 112645503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 132
(V132D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034429]
[ENSMUST00000211866]
|
| AlphaFold |
Q3U284 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034429
AA Change: V132D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034429
Gene: ENSMUSG00000031951
AA Change: V132D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TM231
|
1 |
301 |
5.8e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211866
AA Change: S159T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.9355 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
G |
A |
17: 43,024,010 (GRCm39) |
H154Y |
possibly damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,862,680 (GRCm39) |
Y501* |
probably null |
Het |
| Atmin |
T |
C |
8: 117,684,389 (GRCm39) |
F683S |
probably benign |
Het |
| Bcat1 |
A |
G |
6: 144,953,379 (GRCm39) |
V403A |
probably damaging |
Het |
| C4b |
T |
G |
17: 34,947,492 (GRCm39) |
M1729L |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,159,224 (GRCm39) |
S2185P |
probably damaging |
Het |
| Crispld2 |
T |
G |
8: 120,752,810 (GRCm39) |
V286G |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,010 (GRCm39) |
|
probably null |
Het |
| Dnai1 |
T |
C |
4: 41,625,239 (GRCm39) |
V401A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Ifitm2 |
T |
A |
7: 140,535,702 (GRCm39) |
T43S |
probably damaging |
Het |
| Mark1 |
A |
T |
1: 184,633,058 (GRCm39) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,207,673 (GRCm39) |
I40V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfatc2 |
A |
C |
2: 168,432,023 (GRCm39) |
F30C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,633,609 (GRCm39) |
V251D |
probably damaging |
Het |
| Pax8 |
T |
A |
2: 24,333,057 (GRCm39) |
Y96F |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,811,327 (GRCm39) |
E187G |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,684,520 (GRCm39) |
D1183V |
probably damaging |
Het |
| Reln |
T |
G |
5: 22,101,784 (GRCm39) |
D3382A |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,567,243 (GRCm39) |
L271P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,948,455 (GRCm39) |
A600V |
probably benign |
Het |
| Sfr1 |
T |
C |
19: 47,723,291 (GRCm39) |
I265T |
probably damaging |
Het |
| Syt13 |
G |
A |
2: 92,771,312 (GRCm39) |
R133H |
probably benign |
Het |
| Tmem247 |
C |
A |
17: 87,225,869 (GRCm39) |
A103E |
probably benign |
Het |
| Unc119b |
A |
T |
5: 115,263,534 (GRCm39) |
Y223* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,473 (GRCm39) |
F37L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,895,275 (GRCm39) |
Y3627N |
probably damaging |
Het |
| Zfp292 |
C |
A |
4: 34,809,468 (GRCm39) |
S1192I |
probably damaging |
Het |
|
| Other mutations in Tmem231 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00905:Tmem231
|
APN |
8 |
112,645,072 (GRCm39) |
splice site |
probably benign |
|
|
IGL02800:Tmem231
|
APN |
8 |
112,640,664 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2281:Tmem231
|
UTSW |
8 |
112,645,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3615:Tmem231
|
UTSW |
8 |
112,644,945 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3616:Tmem231
|
UTSW |
8 |
112,644,945 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4541:Tmem231
|
UTSW |
8 |
112,641,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4708:Tmem231
|
UTSW |
8 |
112,660,418 (GRCm39) |
start gained |
probably benign |
|
|
R5522:Tmem231
|
UTSW |
8 |
112,645,042 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6266:Tmem231
|
UTSW |
8 |
112,641,897 (GRCm39) |
missense |
probably null |
0.71 |
|
R6414:Tmem231
|
UTSW |
8 |
112,653,524 (GRCm39) |
intron |
probably benign |
|
|
R6415:Tmem231
|
UTSW |
8 |
112,653,524 (GRCm39) |
intron |
probably benign |
|
|
R6418:Tmem231
|
UTSW |
8 |
112,653,524 (GRCm39) |
intron |
probably benign |
|
|
R6419:Tmem231
|
UTSW |
8 |
112,653,524 (GRCm39) |
intron |
probably benign |
|
|
R6622:Tmem231
|
UTSW |
8 |
112,645,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Tmem231
|
UTSW |
8 |
112,660,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7103:Tmem231
|
UTSW |
8 |
112,645,517 (GRCm39) |
splice site |
probably null |
|
|
R7221:Tmem231
|
UTSW |
8 |
112,660,308 (GRCm39) |
missense |
probably benign |
|
|
R7305:Tmem231
|
UTSW |
8 |
112,641,927 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7438:Tmem231
|
UTSW |
8 |
112,645,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Tmem231
|
UTSW |
8 |
112,644,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8951:Tmem231
|
UTSW |
8 |
112,640,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCCATCTGCAGTGTG -3'
(R):5'- TGAACTCAGATCTGCTTGTCTCTG -3'
Sequencing Primer
(F):5'- CTCAGAGGTTAAGAGCACTGACTG -3'
(R):5'- TGCCTCCCAAATGCTGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation