Incidental Mutation 'PIT4468001:Ttyh1'
| ID |
555640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttyh1
|
| Ensembl Gene |
ENSMUSG00000030428 |
| Gene Name |
tweety family member 1 |
| Synonyms |
tty, 4930459B04Rik, 6330408P11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4468001 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4122418-4139206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4122771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 40
(Y40H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078384
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032594]
[ENSMUST00000079415]
[ENSMUST00000119661]
[ENSMUST00000129423]
[ENSMUST00000153673]
[ENSMUST00000206869]
[ENSMUST00000206987]
|
| AlphaFold |
Q9D3A9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032594
AA Change: Y7H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032594
Gene: ENSMUSG00000030428
AA Change: Y7H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
1 |
72 |
4.7e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079415
AA Change: Y40H
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: Y40H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
428 |
3.2e-165 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119661
AA Change: Y40H
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: Y40H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
435 |
1.9e-167 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129423
AA Change: Y40H
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: Y40H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
435 |
1.9e-167 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153673
AA Change: Y40H
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115623
Gene: ENSMUSG00000030428
AA Change: Y40H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tweety
|
26 |
103 |
1.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206869
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206987
AA Change: Y40H
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
| Validation Efficiency |
|
| 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 |
|---|
| 2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
| Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
| Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
| Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
| Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
| Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
| Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
| Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
| Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
| Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
| Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,798,463 (GRCm39) |
S775P |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,702,805 (GRCm39) |
M61T |
unknown |
Het |
| Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
| Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
| Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
| Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
| Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
| Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
| Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,805,136 (GRCm39) |
I350N |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
| Rpl3l |
A |
G |
17: 24,954,457 (GRCm39) |
T173A |
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
| Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
| Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
| Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
| Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
| Usp42 |
T |
A |
5: 143,700,399 (GRCm39) |
K1208M |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,313,884 (GRCm39) |
L164R |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
| Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
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 |
|
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 |
|
R4329: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'- GAGCAAAGACCCTTCACCTG -3'
(R):5'- CTTATCTGGGAAGAGAGGGGTC -3'
Sequencing Primer
(F):5'- ACTGCTCACGCCGCATTG -3'
(R):5'- AGAGAGGGGTCTGCACC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation