Incidental Mutation 'R4329:Ttyh1'
| ID |
397272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttyh1
|
| Ensembl Gene |
ENSMUSG00000030428 |
| Gene Name |
tweety family member 1 |
| Synonyms |
tty, 4930459B04Rik, 6330408P11Rik |
| MMRRC Submission |
041663-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4329 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
4122418-4139206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4133580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 295
(D295V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032594]
[ENSMUST00000079415]
[ENSMUST00000119661]
[ENSMUST00000129423]
[ENSMUST00000206869]
[ENSMUST00000206987]
[ENSMUST00000153673]
|
| AlphaFold |
Q9D3A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032594
|
| SMART Domains |
Protein: ENSMUSP00000032594
Gene: ENSMUSG00000030428
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
1 |
72 |
4.7e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079415
AA Change: D295V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: D295V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
428 |
3.2e-165 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119661
AA Change: D295V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: D295V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
435 |
1.9e-167 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128317
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129423
AA Change: D295V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: D295V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
435 |
1.9e-167 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134536
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206869
AA Change: D199V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205971
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139789
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153673
|
| SMART Domains |
Protein: ENSMUSP00000115623
Gene: ENSMUSG00000030428
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
103 |
1.3e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.8711 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
96% (68/71) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the Tweety family of membrane proteins. Members of this family contain five predicted transmembrane regions that are arranged in a characteristic pattern. In mouse, the protein is predominantly localized to the endoplasmic reticulum and displays calcium binding activity. Targeted knock out of this gene results in early embryonic lethality prior to the blastocyst stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation with arrest before the blastocyst stage and mitotic failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
A |
5: 113,243,455 (GRCm39) |
|
probably null |
Het |
| Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,985,103 (GRCm39) |
|
probably benign |
Het |
| Ang2 |
A |
T |
14: 51,433,325 (GRCm39) |
I19N |
possibly damaging |
Het |
| Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
| Cacna1s |
A |
C |
1: 136,046,771 (GRCm39) |
D1819A |
probably benign |
Het |
| Cand2 |
C |
A |
6: 115,776,949 (GRCm39) |
H1112Q |
possibly damaging |
Het |
| Catsperd |
T |
A |
17: 56,961,517 (GRCm39) |
I413K |
possibly damaging |
Het |
| Ccdc142 |
T |
A |
6: 83,083,997 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Celsr3 |
C |
T |
9: 108,723,248 (GRCm39) |
R2847C |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,373,530 (GRCm39) |
S1270L |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,925,803 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 99,999,888 (GRCm39) |
D215E |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,799,749 (GRCm39) |
F1539L |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,402,966 (GRCm39) |
I3192N |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,688,441 (GRCm39) |
D1870E |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,513,002 (GRCm39) |
I359L |
probably benign |
Het |
| Esp1 |
A |
G |
17: 41,039,768 (GRCm39) |
M18V |
probably benign |
Het |
| Exoc1 |
T |
A |
5: 76,715,822 (GRCm39) |
F789L |
probably damaging |
Het |
| Fbxw22 |
T |
A |
9: 109,213,111 (GRCm39) |
T279S |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,904,774 (GRCm39) |
A880V |
probably benign |
Het |
| Gm29514 |
A |
G |
1: 146,296,429 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
T |
C |
6: 110,891,325 (GRCm39) |
L186P |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
| Klk4 |
A |
G |
7: 43,533,830 (GRCm39) |
D202G |
probably damaging |
Het |
| Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
| Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,861 (GRCm39) |
Y808N |
probably damaging |
Het |
| Myom1 |
C |
T |
17: 71,343,348 (GRCm39) |
L182F |
probably damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,615 (GRCm39) |
I102N |
unknown |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Patl2 |
C |
T |
2: 121,958,018 (GRCm39) |
S80N |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
| Pkmyt1 |
T |
A |
17: 23,951,709 (GRCm39) |
Y88N |
probably damaging |
Het |
| Pnkp |
T |
C |
7: 44,508,018 (GRCm39) |
S114P |
probably benign |
Het |
| Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,857,340 (GRCm39) |
R631G |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
| Skint9 |
A |
C |
4: 112,249,062 (GRCm39) |
L122R |
probably damaging |
Het |
| Slc16a13 |
T |
C |
11: 70,108,723 (GRCm39) |
N369S |
probably benign |
Het |
| Strada |
A |
G |
11: 106,077,999 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
C |
A |
17: 34,912,838 (GRCm39) |
S1784Y |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,736,727 (GRCm39) |
V318A |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,267,820 (GRCm39) |
R1589H |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,618,969 (GRCm39) |
Y58H |
probably damaging |
Het |
| Xylt1 |
G |
A |
7: 117,255,684 (GRCm39) |
G752D |
probably damaging |
Het |
| Yipf7 |
A |
T |
5: 69,678,465 (GRCm39) |
L55Q |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
| Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ttyh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01410:Ttyh1
|
APN |
7 |
4,127,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Ttyh1
|
APN |
7 |
4,128,720 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02052:Ttyh1
|
APN |
7 |
4,133,573 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02410:Ttyh1
|
APN |
7 |
4,136,898 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02651:Ttyh1
|
APN |
7 |
4,127,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Ttyh1
|
UTSW |
7 |
4,122,771 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0137:Ttyh1
|
UTSW |
7 |
4,127,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1699:Ttyh1
|
UTSW |
7 |
4,122,695 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1739:Ttyh1
|
UTSW |
7 |
4,132,348 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1865:Ttyh1
|
UTSW |
7 |
4,122,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Ttyh1
|
UTSW |
7 |
4,131,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2259:Ttyh1
|
UTSW |
7 |
4,131,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2260:Ttyh1
|
UTSW |
7 |
4,131,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3027:Ttyh1
|
UTSW |
7 |
4,122,721 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3426:Ttyh1
|
UTSW |
7 |
4,136,218 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3939:Ttyh1
|
UTSW |
7 |
4,132,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3941:Ttyh1
|
UTSW |
7 |
4,132,317 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4328:Ttyh1
|
UTSW |
7 |
4,133,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4527:Ttyh1
|
UTSW |
7 |
4,122,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Ttyh1
|
UTSW |
7 |
4,125,533 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4898:Ttyh1
|
UTSW |
7 |
4,136,735 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4931:Ttyh1
|
UTSW |
7 |
4,136,943 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4960:Ttyh1
|
UTSW |
7 |
4,131,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Ttyh1
|
UTSW |
7 |
4,128,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6362:Ttyh1
|
UTSW |
7 |
4,132,323 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6799:Ttyh1
|
UTSW |
7 |
4,136,221 (GRCm39) |
splice site |
probably null |
|
|
R6823:Ttyh1
|
UTSW |
7 |
4,125,528 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6897:Ttyh1
|
UTSW |
7 |
4,127,649 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7070:Ttyh1
|
UTSW |
7 |
4,136,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7236:Ttyh1
|
UTSW |
7 |
4,136,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7287:Ttyh1
|
UTSW |
7 |
4,128,657 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8039:Ttyh1
|
UTSW |
7 |
4,125,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8056:Ttyh1
|
UTSW |
7 |
4,127,622 (GRCm39) |
intron |
probably benign |
|
|
R8236:Ttyh1
|
UTSW |
7 |
4,128,547 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8684:Ttyh1
|
UTSW |
7 |
4,133,791 (GRCm39) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAAGGGATGAACGTCT -3'
(R):5'- CTCGGGTCAAGGTGTGGC -3'
Sequencing Primer
(F):5'- GCTGTAAGTTTGATCCCTAGCAACAC -3'
(R):5'- TGGCCTTGGCACCCTCC -3'
|
| Posted On |
2016-07-05 |
Incidental Mutation