Incidental Mutation 'IGL03050:Ttyh2'
| ID |
453443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttyh2
|
| Ensembl Gene |
ENSMUSG00000034714 |
| Gene Name |
tweety family member 2 |
| Synonyms |
1110001A03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL03050 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
114566294-114611810 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114599680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 370
(L370Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045779]
|
| AlphaFold |
Q3TH73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045779
AA Change: L370Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714
AA Change: L370Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
27 |
433 |
2.5e-184 |
PFAM |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
95% (41/43) |
| 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 |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd2 |
G |
A |
19: 42,028,533 (GRCm39) |
R63H |
probably damaging |
Het |
| Bbs2 |
C |
A |
8: 94,801,041 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
G |
T |
12: 102,779,065 (GRCm39) |
D400E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,636,537 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,368,085 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
C |
G |
9: 64,962,118 (GRCm39) |
S386C |
probably benign |
Het |
| Dscaml1 |
A |
C |
9: 45,654,297 (GRCm39) |
D1443A |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,372,421 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,165,038 (GRCm39) |
R262Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,907,896 (GRCm39) |
S2702F |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,497 (GRCm39) |
S347R |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,309,604 (GRCm39) |
S615P |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mirt1 |
A |
G |
19: 53,433,710 (GRCm39) |
|
noncoding transcript |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mug1 |
T |
A |
6: 121,857,530 (GRCm39) |
S1085T |
possibly damaging |
Het |
| Myo18a |
A |
T |
11: 77,709,596 (GRCm39) |
T190S |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,054,191 (GRCm39) |
|
probably null |
Het |
| Or1ak2 |
T |
A |
2: 36,827,635 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
| Or1m1 |
A |
T |
9: 18,666,750 (GRCm39) |
Y60* |
probably null |
Het |
| Or5an1 |
G |
T |
19: 12,260,876 (GRCm39) |
V155L |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,589,785 (GRCm39) |
*312Q |
probably null |
Het |
| Relch |
T |
A |
1: 105,654,106 (GRCm39) |
V825E |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,263 (GRCm39) |
V173M |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,701,422 (GRCm39) |
S379F |
possibly damaging |
Het |
| Sec16a |
T |
A |
2: 26,305,759 (GRCm39) |
D2215V |
probably damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,669,139 (GRCm39) |
R322G |
possibly damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,900 (GRCm39) |
M718T |
possibly damaging |
Het |
| Zhx2 |
T |
C |
15: 57,686,229 (GRCm39) |
F533L |
possibly damaging |
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 |
|
R0088:Ttyh2
|
UTSW |
11 |
114,581,081 (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'- TTCTAGGGAAAGGCCTCTCTG -3'
(R):5'- AGTTCCTTTCATAGGGTGCCC -3'
Sequencing Primer
(F):5'- GAAAGGCCTCTCTGCACAG -3'
(R):5'- TGCCCCTCAGCAGCCATC -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation