Incidental Mutation 'R6107:Ttyh3'
| ID |
485553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttyh3
|
| Ensembl Gene |
ENSMUSG00000036565 |
| Gene Name |
tweety family member 3 |
| Synonyms |
2900029G13Rik |
| MMRRC Submission |
044257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6107 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140606333-140634786 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 140619317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042661]
[ENSMUST00000197452]
|
| AlphaFold |
Q6P5F7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042661
|
| SMART Domains |
Protein: ENSMUSP00000037447
Gene: ENSMUSG00000036565
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
25 |
430 |
9.4e-183 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197452
|
| SMART Domains |
Protein: ENSMUSP00000142655
Gene: ENSMUSG00000036565
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
25 |
430 |
1.8e-182 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198765
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,836,410 (GRCm39) |
R723G |
probably damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,881 (GRCm39) |
N610K |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,879,287 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
G |
A |
11: 120,163,714 (GRCm39) |
A671T |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,769,471 (GRCm39) |
Y1764* |
probably null |
Het |
| E2f8 |
A |
G |
7: 48,517,424 (GRCm39) |
V793A |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,970,400 (GRCm39) |
I1072T |
probably benign |
Het |
| Exoc2 |
T |
C |
13: 31,060,780 (GRCm39) |
I575V |
probably benign |
Het |
| Fbxw19 |
C |
T |
9: 109,324,834 (GRCm39) |
V28M |
probably damaging |
Het |
| Flt1 |
G |
A |
5: 147,540,403 (GRCm39) |
T762M |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,166 (GRCm39) |
A303S |
probably damaging |
Het |
| Gm18856 |
T |
A |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,069 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Hells |
T |
G |
19: 38,942,093 (GRCm39) |
I461S |
probably benign |
Het |
| Inpp4a |
T |
A |
1: 37,416,829 (GRCm39) |
I450N |
probably damaging |
Het |
| Kbtbd6 |
T |
A |
14: 79,690,553 (GRCm39) |
V353D |
probably damaging |
Het |
| Kifap3 |
A |
T |
1: 163,696,338 (GRCm39) |
T656S |
possibly damaging |
Het |
| Med23 |
A |
T |
10: 24,781,932 (GRCm39) |
K713* |
probably null |
Het |
| Miga1 |
A |
T |
3: 152,041,036 (GRCm39) |
F44I |
probably benign |
Het |
| Ngrn |
A |
G |
7: 79,911,625 (GRCm39) |
E74G |
probably damaging |
Het |
| Or4k40 |
T |
C |
2: 111,251,000 (GRCm39) |
S99G |
probably benign |
Het |
| Patl2 |
A |
T |
2: 121,957,967 (GRCm39) |
L97Q |
probably damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,065,354 (GRCm39) |
I673V |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,275,967 (GRCm39) |
T543A |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Prl8a8 |
A |
G |
13: 27,695,447 (GRCm39) |
V100A |
possibly damaging |
Het |
| Rnase10 |
T |
A |
14: 51,246,751 (GRCm39) |
V43E |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,780,717 (GRCm39) |
S816G |
probably benign |
Het |
| Slc25a34 |
C |
T |
4: 141,350,806 (GRCm39) |
V68M |
probably benign |
Het |
| Slc25a48 |
A |
T |
13: 56,612,891 (GRCm39) |
E263V |
probably damaging |
Het |
| Slc7a14 |
A |
G |
3: 31,311,759 (GRCm39) |
V87A |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,667,665 (GRCm39) |
I433V |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,831,314 (GRCm39) |
V259A |
possibly damaging |
Het |
| Spag6l |
T |
A |
16: 16,599,652 (GRCm39) |
N270I |
possibly damaging |
Het |
| Tas2r113 |
G |
A |
6: 132,869,977 (GRCm39) |
V2M |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,780,104 (GRCm39) |
V680A |
probably damaging |
Het |
| Ufl1 |
A |
G |
4: 25,251,999 (GRCm39) |
S639P |
possibly damaging |
Het |
| Znfx1 |
A |
T |
2: 166,879,001 (GRCm39) |
F928I |
possibly damaging |
Het |
|
| Other mutations in Ttyh3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Ttyh3
|
APN |
5 |
140,615,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01324:Ttyh3
|
APN |
5 |
140,617,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01982:Ttyh3
|
APN |
5 |
140,621,829 (GRCm39) |
splice site |
probably benign |
|
|
IGL02002:Ttyh3
|
APN |
5 |
140,615,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02218:Ttyh3
|
APN |
5 |
140,612,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02385:Ttyh3
|
APN |
5 |
140,619,060 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02510:Ttyh3
|
APN |
5 |
140,615,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Ttyh3
|
UTSW |
5 |
140,612,201 (GRCm39) |
splice site |
probably null |
|
|
R3037:Ttyh3
|
UTSW |
5 |
140,634,597 (GRCm39) |
start gained |
probably benign |
|
|
R3774:Ttyh3
|
UTSW |
5 |
140,634,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4795:Ttyh3
|
UTSW |
5 |
140,620,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4796:Ttyh3
|
UTSW |
5 |
140,620,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4868:Ttyh3
|
UTSW |
5 |
140,615,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5671:Ttyh3
|
UTSW |
5 |
140,617,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6363:Ttyh3
|
UTSW |
5 |
140,620,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Ttyh3
|
UTSW |
5 |
140,615,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7454:Ttyh3
|
UTSW |
5 |
140,615,180 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7798:Ttyh3
|
UTSW |
5 |
140,620,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7810:Ttyh3
|
UTSW |
5 |
140,610,896 (GRCm39) |
missense |
|
|
|
R8690:Ttyh3
|
UTSW |
5 |
140,612,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8690:Ttyh3
|
UTSW |
5 |
140,612,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9162:Ttyh3
|
UTSW |
5 |
140,621,820 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGTTCTCAGGGAGAGTCCAC -3'
(R):5'- TTGAGTAGCTCCGAGACCAG -3'
Sequencing Primer
(F):5'- CTCCCCAGGGTGTGACCTTTG -3'
(R):5'- GCCATAGGAGAGCTTACTGTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation