Incidental Mutation 'R8253:Ttc22'
| ID |
640118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc22
|
| Ensembl Gene |
ENSMUSG00000034919 |
| Gene Name |
tetratricopeptide repeat domain 22 |
| Synonyms |
4732467L16Rik |
| MMRRC Submission |
067679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106479646-106497393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106495717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 357
(L357P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047922]
|
| AlphaFold |
Q8C159 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047922
AA Change: L357P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035773
Gene: ENSMUSG00000034919
AA Change: L357P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
TPR
|
66 |
99 |
2.3e1 |
SMART |
|
Pfam:TPR_8
|
100 |
128 |
2.5e-3 |
PFAM |
|
TPR
|
295 |
328 |
2.99e1 |
SMART |
|
TPR
|
432 |
465 |
6.19e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136505
|
| Meta Mutation Damage Score |
0.1824 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with seven tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,874,702 (GRCm39) |
E493G |
probably benign |
Het |
| Akr1a1 |
A |
T |
4: 116,493,840 (GRCm39) |
D313E |
probably damaging |
Het |
| Ap1m1 |
T |
A |
8: 73,006,730 (GRCm39) |
V242E |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,024,159 (GRCm39) |
S670T |
possibly damaging |
Het |
| Atad2b |
C |
T |
12: 5,024,160 (GRCm39) |
S670L |
probably benign |
Het |
| Atp23 |
C |
T |
10: 126,704,543 (GRCm39) |
G197S |
probably benign |
Het |
| Avpr1b |
A |
T |
1: 131,537,154 (GRCm39) |
T313S |
probably benign |
Het |
| Cblc |
A |
G |
7: 19,520,157 (GRCm39) |
I362T |
probably damaging |
Het |
| Ccdc171 |
T |
A |
4: 83,661,207 (GRCm39) |
S1106T |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,905,683 (GRCm39) |
M193V |
probably benign |
Het |
| Csde1 |
C |
A |
3: 102,946,037 (GRCm39) |
N10K |
probably damaging |
Het |
| Csnk2a2 |
T |
C |
8: 96,215,005 (GRCm39) |
Y24C |
|
Het |
| Cyb5r4 |
G |
T |
9: 86,941,108 (GRCm39) |
L420F |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dner |
C |
T |
1: 84,512,598 (GRCm39) |
G323E |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,773,792 (GRCm39) |
M1T |
probably null |
Het |
| Fam13c |
T |
C |
10: 70,389,033 (GRCm39) |
S520P |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,028,294 (GRCm39) |
H885L |
possibly damaging |
Het |
| Gabra2 |
A |
G |
5: 71,249,413 (GRCm39) |
I30T |
probably benign |
Het |
| Gm6793 |
T |
A |
8: 112,741,640 (GRCm39) |
M1L |
probably benign |
Het |
| Inpp5a |
T |
C |
7: 139,061,556 (GRCm39) |
L76P |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,243,406 (GRCm39) |
I381T |
probably benign |
Het |
| Lyrm7 |
T |
C |
11: 54,741,227 (GRCm39) |
I36V |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,814,305 (GRCm39) |
I906V |
probably benign |
Het |
| Mup5 |
C |
T |
4: 61,752,811 (GRCm39) |
A71T |
probably benign |
Het |
| Ndufaf6 |
G |
A |
4: 11,059,086 (GRCm39) |
R248W |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,538 (GRCm39) |
I226L |
possibly damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Palm |
A |
T |
10: 79,643,511 (GRCm39) |
K80* |
probably null |
Het |
| Pcyox1 |
C |
T |
6: 86,366,044 (GRCm39) |
R390K |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,207,459 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
T |
A |
16: 16,086,406 (GRCm39) |
V689D |
probably damaging |
Het |
| Prkar2a |
G |
T |
9: 108,617,638 (GRCm39) |
R232L |
probably damaging |
Het |
| Rasgrp4 |
C |
T |
7: 28,838,287 (GRCm39) |
T87M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,842,439 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Shd |
T |
C |
17: 56,283,295 (GRCm39) |
V309A |
|
Het |
| Skint7 |
C |
T |
4: 111,834,675 (GRCm39) |
Q20* |
probably null |
Het |
| Slc35g1 |
C |
A |
19: 38,391,237 (GRCm39) |
T173K |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,433,013 (GRCm39) |
F1073L |
probably benign |
Het |
| Snx18 |
T |
A |
13: 113,731,317 (GRCm39) |
D559V |
probably damaging |
Het |
| Tbr1 |
G |
T |
2: 61,635,585 (GRCm39) |
Q178H |
probably benign |
Het |
| Tmem145 |
T |
G |
7: 25,006,939 (GRCm39) |
Y114D |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,850,323 (GRCm39) |
M377V |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,770 (GRCm39) |
Y2242* |
probably null |
Het |
| Xdh |
T |
G |
17: 74,225,377 (GRCm39) |
Q475P |
possibly damaging |
Het |
| Zbtb42 |
T |
G |
12: 112,646,746 (GRCm39) |
L307R |
probably damaging |
Het |
|
| Other mutations in Ttc22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01718:Ttc22
|
APN |
4 |
106,495,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01749:Ttc22
|
APN |
4 |
106,495,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02189:Ttc22
|
APN |
4 |
106,496,354 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02206:Ttc22
|
APN |
4 |
106,493,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Ttc22
|
APN |
4 |
106,495,687 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02348:Ttc22
|
APN |
4 |
106,480,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Ttc22
|
APN |
4 |
106,495,669 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02982:Ttc22
|
APN |
4 |
106,495,783 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0044:Ttc22
|
UTSW |
4 |
106,494,003 (GRCm39) |
missense |
probably benign |
|
|
R0607:Ttc22
|
UTSW |
4 |
106,496,510 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0611:Ttc22
|
UTSW |
4 |
106,491,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Ttc22
|
UTSW |
4 |
106,480,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Ttc22
|
UTSW |
4 |
106,480,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Ttc22
|
UTSW |
4 |
106,479,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Ttc22
|
UTSW |
4 |
106,479,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Ttc22
|
UTSW |
4 |
106,479,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Ttc22
|
UTSW |
4 |
106,491,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Ttc22
|
UTSW |
4 |
106,496,237 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1864:Ttc22
|
UTSW |
4 |
106,494,003 (GRCm39) |
missense |
probably benign |
|
|
R1886:Ttc22
|
UTSW |
4 |
106,494,063 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2136:Ttc22
|
UTSW |
4 |
106,479,869 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2156:Ttc22
|
UTSW |
4 |
106,496,237 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2267:Ttc22
|
UTSW |
4 |
106,496,282 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2698:Ttc22
|
UTSW |
4 |
106,496,435 (GRCm39) |
missense |
probably benign |
|
|
R3162:Ttc22
|
UTSW |
4 |
106,480,276 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3162:Ttc22
|
UTSW |
4 |
106,480,276 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3754:Ttc22
|
UTSW |
4 |
106,496,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5399:Ttc22
|
UTSW |
4 |
106,493,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Ttc22
|
UTSW |
4 |
106,495,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6156:Ttc22
|
UTSW |
4 |
106,495,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6678:Ttc22
|
UTSW |
4 |
106,480,242 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6912:Ttc22
|
UTSW |
4 |
106,495,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7094:Ttc22
|
UTSW |
4 |
106,493,104 (GRCm39) |
nonsense |
probably null |
|
|
R8166:Ttc22
|
UTSW |
4 |
106,491,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8334:Ttc22
|
UTSW |
4 |
106,496,115 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Ttc22
|
UTSW |
4 |
106,479,720 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCTGCAGCCAAACAGG -3'
(R):5'- TCATTACATCCATTCCACAGGG -3'
Sequencing Primer
(F):5'- AGGATGTCCCTGGTTGCTTGC -3'
(R):5'- CACTGGAGGAGGCAGGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation