Incidental Mutation 'R7728:Tmtc2'
| ID |
595645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc2
|
| Ensembl Gene |
ENSMUSG00000036019 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 2 |
| Synonyms |
8430438D04Rik, D330034A10Rik |
| MMRRC Submission |
045784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R7728 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
105023524-105410312 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 105107358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061506]
[ENSMUST00000061506]
|
| AlphaFold |
Q56A06 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061506
|
| SMART Domains |
Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
245 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
247 |
321 |
7.3e-33 |
PFAM |
|
transmembrane domain
|
393 |
415 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
444 |
N/A |
INTRINSIC |
|
TPR
|
493 |
526 |
1.6e-3 |
SMART |
|
TPR
|
527 |
560 |
6.84e-3 |
SMART |
|
TPR
|
561 |
594 |
2.52e-1 |
SMART |
|
TPR
|
606 |
639 |
3.12e-6 |
SMART |
|
TPR
|
643 |
676 |
3.99e1 |
SMART |
|
TPR
|
677 |
710 |
7.12e-1 |
SMART |
|
low complexity region
|
729 |
739 |
N/A |
INTRINSIC |
|
TPR
|
745 |
778 |
1.51e1 |
SMART |
|
TPR
|
779 |
812 |
1.43e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000061506
|
| SMART Domains |
Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
223 |
245 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
247 |
321 |
7.3e-33 |
PFAM |
|
transmembrane domain
|
393 |
415 |
N/A |
INTRINSIC |
|
transmembrane domain
|
425 |
444 |
N/A |
INTRINSIC |
|
TPR
|
493 |
526 |
1.6e-3 |
SMART |
|
TPR
|
527 |
560 |
6.84e-3 |
SMART |
|
TPR
|
561 |
594 |
2.52e-1 |
SMART |
|
TPR
|
606 |
639 |
3.12e-6 |
SMART |
|
TPR
|
643 |
676 |
3.99e1 |
SMART |
|
TPR
|
677 |
710 |
7.12e-1 |
SMART |
|
low complexity region
|
729 |
739 |
N/A |
INTRINSIC |
|
TPR
|
745 |
778 |
1.51e1 |
SMART |
|
TPR
|
779 |
812 |
1.43e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,163,822 (GRCm39) |
P851S |
probably damaging |
Het |
| 2210408I21Rik |
T |
A |
13: 77,464,596 (GRCm39) |
L931Q |
possibly damaging |
Het |
| Abcg3 |
T |
G |
5: 105,083,944 (GRCm39) |
I609L |
probably benign |
Het |
| Acly |
A |
T |
11: 100,407,623 (GRCm39) |
F242L |
probably damaging |
Het |
| Acly |
C |
T |
11: 100,410,513 (GRCm39) |
G155D |
probably benign |
Het |
| Acsl5 |
T |
A |
19: 55,276,285 (GRCm39) |
L370* |
probably null |
Het |
| Arhgef17 |
G |
A |
7: 100,579,275 (GRCm39) |
P558S |
probably benign |
Het |
| Bhlha9 |
T |
A |
11: 76,563,915 (GRCm39) |
S181T |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,929,100 (GRCm39) |
T2331A |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc7b |
A |
T |
8: 129,799,171 (GRCm39) |
R83W |
unknown |
Het |
| Churc1 |
T |
A |
12: 76,820,052 (GRCm39) |
N20K |
probably benign |
Het |
| Clec9a |
T |
C |
6: 129,392,198 (GRCm39) |
S63P |
possibly damaging |
Het |
| Cndp2 |
T |
A |
18: 84,690,202 (GRCm39) |
M247L |
probably benign |
Het |
| Cpvl |
C |
T |
6: 53,902,275 (GRCm39) |
S329N |
probably benign |
Het |
| Cracd |
T |
C |
5: 77,005,316 (GRCm39) |
V559A |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,281,285 (GRCm39) |
W747R |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,662,759 (GRCm39) |
D644E |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,621,961 (GRCm39) |
N898Y |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,538,051 (GRCm39) |
H666Y |
probably damaging |
Het |
| Dnajc2 |
C |
T |
5: 21,975,538 (GRCm39) |
D222N |
possibly damaging |
Het |
| Epha5 |
A |
T |
5: 84,215,267 (GRCm39) |
M826K |
possibly damaging |
Het |
| Fam13a |
T |
C |
6: 58,931,284 (GRCm39) |
D432G |
possibly damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,368,398 (GRCm39) |
L276P |
probably damaging |
Het |
| Gars1 |
G |
T |
6: 55,027,371 (GRCm39) |
W155L |
probably damaging |
Het |
| Gm12258 |
C |
A |
11: 58,750,518 (GRCm39) |
H564Q |
unknown |
Het |
| Gm3127 |
A |
G |
14: 15,425,832 (GRCm39) |
D79G |
possibly damaging |
Het |
| H2-Q10 |
T |
A |
17: 35,781,735 (GRCm39) |
I119N |
probably damaging |
Het |
| Harbi1 |
A |
G |
2: 91,542,626 (GRCm39) |
D29G |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,953,307 (GRCm39) |
M155K |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,317,088 (GRCm39) |
M781R |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,190,907 (GRCm39) |
K101E |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,360,478 (GRCm39) |
I299T |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,930,811 (GRCm39) |
|
probably null |
Het |
| Krt81 |
A |
G |
15: 101,358,087 (GRCm39) |
Y389H |
probably damaging |
Het |
| Lrrc36 |
A |
T |
8: 106,176,130 (GRCm39) |
E168V |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,912,463 (GRCm39) |
V1699A |
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,754,429 (GRCm39) |
S380C |
probably benign |
Het |
| Mlkl |
A |
G |
8: 112,060,251 (GRCm39) |
L45P |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,274,004 (GRCm39) |
D159E |
probably benign |
Het |
| Nanp |
A |
G |
2: 150,872,835 (GRCm39) |
V31A |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,283,983 (GRCm39) |
S846P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,073,311 (GRCm39) |
R5982C |
probably damaging |
Het |
| Nebl |
G |
T |
2: 17,375,325 (GRCm39) |
F93L |
|
Het |
| Or11h6 |
G |
A |
14: 50,879,849 (GRCm39) |
G31E |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,556,530 (GRCm39) |
N620I |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,824,260 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pwp2 |
T |
C |
10: 78,014,395 (GRCm39) |
T402A |
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,324,423 (GRCm39) |
|
probably null |
Het |
| Rexo4 |
G |
A |
2: 26,854,242 (GRCm39) |
A30V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,616,623 (GRCm39) |
M292K |
possibly damaging |
Het |
| Shroom3 |
C |
A |
5: 92,831,566 (GRCm39) |
P14Q |
possibly damaging |
Het |
| Slc16a10 |
T |
A |
10: 39,916,754 (GRCm39) |
I383F |
probably damaging |
Het |
| Slco1a8 |
C |
A |
6: 141,933,436 (GRCm39) |
E470* |
probably null |
Het |
| Slk |
C |
A |
19: 47,609,255 (GRCm39) |
P736Q |
probably damaging |
Het |
| St6galnac2 |
T |
A |
11: 116,570,811 (GRCm39) |
H259L |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,213,721 (GRCm39) |
S317A |
possibly damaging |
Het |
| Syvn1 |
A |
G |
19: 6,101,235 (GRCm39) |
T429A |
unknown |
Het |
| Tbc1d9 |
A |
T |
8: 83,985,979 (GRCm39) |
E828V |
probably damaging |
Het |
| Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
| Trp53bp1 |
A |
C |
2: 121,038,380 (GRCm39) |
L1436R |
probably damaging |
Het |
| Ttll5 |
C |
T |
12: 86,003,406 (GRCm39) |
R1095W |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,634,203 (GRCm39) |
F831S |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,773,117 (GRCm39) |
Q501H |
probably damaging |
Het |
| Zcchc17 |
A |
G |
4: 130,230,812 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,678,201 (GRCm39) |
M3084V |
probably benign |
Het |
| Zfp81 |
T |
C |
17: 33,555,791 (GRCm39) |
N12S |
possibly damaging |
Het |
|
| Other mutations in Tmtc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00571:Tmtc2
|
APN |
10 |
105,157,307 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01284:Tmtc2
|
APN |
10 |
105,107,372 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01317:Tmtc2
|
APN |
10 |
105,249,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01327:Tmtc2
|
APN |
10 |
105,184,340 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01637:Tmtc2
|
APN |
10 |
105,205,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02176:Tmtc2
|
APN |
10 |
105,184,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02354:Tmtc2
|
APN |
10 |
105,107,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02361:Tmtc2
|
APN |
10 |
105,107,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02514:Tmtc2
|
APN |
10 |
105,025,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02540:Tmtc2
|
APN |
10 |
105,249,200 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02625:Tmtc2
|
APN |
10 |
105,206,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02938:Tmtc2
|
APN |
10 |
105,249,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Tmtc2
|
APN |
10 |
105,206,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03388:Tmtc2
|
APN |
10 |
105,157,344 (GRCm39) |
splice site |
probably benign |
|
|
PIT4402001:Tmtc2
|
UTSW |
10 |
105,249,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Tmtc2
|
UTSW |
10 |
105,139,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Tmtc2
|
UTSW |
10 |
105,249,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Tmtc2
|
UTSW |
10 |
105,409,566 (GRCm39) |
nonsense |
probably null |
|
|
R1462:Tmtc2
|
UTSW |
10 |
105,409,566 (GRCm39) |
nonsense |
probably null |
|
|
R1529:Tmtc2
|
UTSW |
10 |
105,139,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Tmtc2
|
UTSW |
10 |
105,025,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2225:Tmtc2
|
UTSW |
10 |
105,206,218 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4280:Tmtc2
|
UTSW |
10 |
105,184,294 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4602:Tmtc2
|
UTSW |
10 |
105,249,391 (GRCm39) |
missense |
probably benign |
|
|
R4603:Tmtc2
|
UTSW |
10 |
105,249,391 (GRCm39) |
missense |
probably benign |
|
|
R4624:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4625:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4628:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4629:Tmtc2
|
UTSW |
10 |
105,139,511 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5192:Tmtc2
|
UTSW |
10 |
105,026,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Tmtc2
|
UTSW |
10 |
105,205,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5846:Tmtc2
|
UTSW |
10 |
105,107,302 (GRCm39) |
intron |
probably benign |
|
|
R5892:Tmtc2
|
UTSW |
10 |
105,249,366 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5897:Tmtc2
|
UTSW |
10 |
105,249,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Tmtc2
|
UTSW |
10 |
105,205,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Tmtc2
|
UTSW |
10 |
105,409,551 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6640:Tmtc2
|
UTSW |
10 |
105,409,610 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R6812:Tmtc2
|
UTSW |
10 |
105,249,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6975:Tmtc2
|
UTSW |
10 |
105,158,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7042:Tmtc2
|
UTSW |
10 |
105,206,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7063:Tmtc2
|
UTSW |
10 |
105,184,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Tmtc2
|
UTSW |
10 |
105,409,587 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7288:Tmtc2
|
UTSW |
10 |
105,249,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Tmtc2
|
UTSW |
10 |
105,206,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Tmtc2
|
UTSW |
10 |
105,409,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8024:Tmtc2
|
UTSW |
10 |
105,025,987 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8417:Tmtc2
|
UTSW |
10 |
105,249,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8697:Tmtc2
|
UTSW |
10 |
105,205,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8913:Tmtc2
|
UTSW |
10 |
105,158,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9409:Tmtc2
|
UTSW |
10 |
105,159,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Tmtc2
|
UTSW |
10 |
105,026,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tmtc2
|
UTSW |
10 |
105,139,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCTTCTCCATTAAAGGC -3'
(R):5'- CCCCAGCATAGTTTATCTGTAGAC -3'
Sequencing Primer
(F):5'- GCCTTCTCCATTAAAGGCCAATG -3'
(R):5'- CCTTCACTGAAGCATCCA -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation