Incidental Mutation 'R0088:Ttyh2'
| ID |
20020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttyh2
|
| Ensembl Gene |
ENSMUSG00000034714 |
| Gene Name |
tweety family member 2 |
| Synonyms |
1110001A03Rik |
| MMRRC Submission |
038375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R0088 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
114566294-114611810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 114581081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 107
(G107C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045779]
|
| AlphaFold |
Q3TH73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045779
AA Change: G107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: G107C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
27 |
433 |
2.5e-184 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141111
|
| Meta Mutation Damage Score |
0.9599 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
82% (32/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,404,083 (GRCm39) |
K243R |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,011,946 (GRCm39) |
T883K |
probably benign |
Het |
| Arhgap5 |
G |
T |
12: 52,563,331 (GRCm39) |
D101Y |
probably damaging |
Het |
| Bnc1 |
T |
G |
7: 81,628,246 (GRCm39) |
N39T |
possibly damaging |
Het |
| Carnmt1 |
T |
A |
19: 18,655,217 (GRCm39) |
H123Q |
probably benign |
Het |
| Cdh24 |
T |
C |
14: 54,871,171 (GRCm39) |
D92G |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,307,741 (GRCm39) |
E5G |
probably damaging |
Het |
| Eqtn |
T |
C |
4: 94,808,227 (GRCm39) |
T192A |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,217 (GRCm39) |
V393A |
probably damaging |
Het |
| Fbll1 |
C |
A |
11: 35,688,967 (GRCm39) |
A99S |
possibly damaging |
Het |
| Il1rl2 |
A |
T |
1: 40,404,213 (GRCm39) |
I445F |
possibly damaging |
Het |
| Ipo8 |
T |
C |
6: 148,703,434 (GRCm39) |
T400A |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,450,248 (GRCm39) |
E92G |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,142,683 (GRCm39) |
V1679M |
probably benign |
Het |
| Kif2a |
G |
A |
13: 107,111,940 (GRCm39) |
A478V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,340 (GRCm39) |
S93G |
probably benign |
Het |
| Mrpl37 |
A |
G |
4: 106,921,621 (GRCm39) |
S203P |
possibly damaging |
Het |
| Ndel1 |
A |
C |
11: 68,724,246 (GRCm39) |
S242R |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,854,574 (GRCm39) |
M1036K |
possibly damaging |
Het |
| Ngrn |
T |
C |
7: 79,914,203 (GRCm39) |
I118T |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,671 (GRCm39) |
V132A |
probably benign |
Het |
| Pex10 |
A |
T |
4: 155,154,955 (GRCm39) |
S236C |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,669,020 (GRCm39) |
|
probably null |
Het |
| Pklr |
A |
G |
3: 89,049,215 (GRCm39) |
Y187C |
probably damaging |
Het |
| Plekhh1 |
A |
C |
12: 79,102,140 (GRCm39) |
E403D |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,677,821 (GRCm39) |
K22E |
possibly damaging |
Het |
| Prdm2 |
G |
A |
4: 142,861,524 (GRCm39) |
H589Y |
possibly damaging |
Het |
| Rabggtb |
C |
A |
3: 153,614,467 (GRCm39) |
R230L |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,349 (GRCm39) |
E420G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,717,912 (GRCm39) |
N1484S |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,056 (GRCm39) |
V17E |
possibly damaging |
Het |
| Sult6b2 |
T |
A |
6: 142,743,675 (GRCm39) |
N117I |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,901,963 (GRCm39) |
T422A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,613 (GRCm39) |
D415G |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,125 (GRCm39) |
D2835G |
probably damaging |
Het |
| Zranb3 |
T |
C |
1: 127,904,199 (GRCm39) |
D540G |
probably benign |
Het |
|
| Other mutations in Ttyh2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03048:Ttyh2
|
UTSW |
11 |
114,587,521 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03050:Ttyh2
|
UTSW |
11 |
114,599,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Ttyh2
|
UTSW |
11 |
114,601,019 (GRCm39) |
splice site |
probably benign |
|
|
R1163:Ttyh2
|
UTSW |
11 |
114,601,714 (GRCm39) |
missense |
probably benign |
|
|
R1433:Ttyh2
|
UTSW |
11 |
114,601,005 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1531:Ttyh2
|
UTSW |
11 |
114,577,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Ttyh2
|
UTSW |
11 |
114,599,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3709:Ttyh2
|
UTSW |
11 |
114,609,958 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4497:Ttyh2
|
UTSW |
11 |
114,601,789 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4641:Ttyh2
|
UTSW |
11 |
114,592,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Ttyh2
|
UTSW |
11 |
114,587,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5112:Ttyh2
|
UTSW |
11 |
114,587,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5328:Ttyh2
|
UTSW |
11 |
114,600,894 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5587:Ttyh2
|
UTSW |
11 |
114,566,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5744:Ttyh2
|
UTSW |
11 |
114,593,136 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6302:Ttyh2
|
UTSW |
11 |
114,592,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Ttyh2
|
UTSW |
11 |
114,566,500 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7890:Ttyh2
|
UTSW |
11 |
114,577,272 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7957:Ttyh2
|
UTSW |
11 |
114,599,690 (GRCm39) |
splice site |
probably null |
|
|
R8851:Ttyh2
|
UTSW |
11 |
114,593,090 (GRCm39) |
missense |
probably benign |
|
|
R9421:Ttyh2
|
UTSW |
11 |
114,587,633 (GRCm39) |
nonsense |
probably null |
|
|
R9606:Ttyh2
|
UTSW |
11 |
114,601,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9641:Ttyh2
|
UTSW |
11 |
114,598,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTCTGTCCATCTGTCCGTGTAA -3'
(R):5'- GTTCCGGCCTTGCTGATCTCAT -3'
Sequencing Primer
(F):5'- ccagaacccacggacaaag -3'
(R):5'- ATGGGCTGTGCCTGTGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation