Incidental Mutation 'R5047:Ttc4'
ID |
394408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc4
|
Ensembl Gene |
ENSMUSG00000025413 |
Gene Name |
tetratricopeptide repeat domain 4 |
Synonyms |
L62, 2810002P21Rik |
MMRRC Submission |
042637-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R5047 (G1)
|
Quality Score |
200 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
106519453-106536141 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106525435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 233
(L233H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026480
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026480]
[ENSMUST00000106772]
[ENSMUST00000135676]
|
AlphaFold |
Q8R3H9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026480
AA Change: L233H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026480 Gene: ENSMUSG00000025413 AA Change: L233H
Domain | Start | End | E-Value | Type |
TPR
|
79 |
112 |
1.26e1 |
SMART |
TPR
|
117 |
150 |
7.27e0 |
SMART |
TPR
|
151 |
184 |
3.07e1 |
SMART |
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106772
|
SMART Domains |
Protein: ENSMUSP00000102384 Gene: ENSMUSG00000025413
Domain | Start | End | E-Value | Type |
TPR
|
79 |
112 |
1.26e1 |
SMART |
TPR
|
117 |
150 |
7.27e0 |
SMART |
TPR
|
151 |
184 |
3.07e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132650
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135676
|
SMART Domains |
Protein: ENSMUSP00000116620 Gene: ENSMUSG00000025413
Domain | Start | End | E-Value | Type |
Pfam:TPR_11
|
77 |
148 |
1.1e-14 |
PFAM |
Pfam:TPR_1
|
79 |
109 |
8.2e-5 |
PFAM |
Pfam:TPR_2
|
79 |
110 |
1.2e-3 |
PFAM |
Blast:TPR
|
173 |
203 |
1e-12 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142342
|
Meta Mutation Damage Score |
0.1454 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
Validation Efficiency |
96% (49/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
probably null |
Het |
|
Other mutations in Ttc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01075:Ttc4
|
APN |
4 |
106,528,845 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01109:Ttc4
|
APN |
4 |
106,520,360 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01825:Ttc4
|
APN |
4 |
106,528,816 (GRCm39) |
splice site |
probably null |
|
IGL02221:Ttc4
|
APN |
4 |
106,533,793 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03333:Ttc4
|
APN |
4 |
106,533,828 (GRCm39) |
missense |
probably benign |
0.19 |
IGL03385:Ttc4
|
APN |
4 |
106,525,397 (GRCm39) |
missense |
probably benign |
0.00 |
R0398:Ttc4
|
UTSW |
4 |
106,524,770 (GRCm39) |
splice site |
probably null |
|
R1300:Ttc4
|
UTSW |
4 |
106,524,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R4250:Ttc4
|
UTSW |
4 |
106,522,880 (GRCm39) |
missense |
probably damaging |
0.96 |
R5911:Ttc4
|
UTSW |
4 |
106,525,240 (GRCm39) |
missense |
probably damaging |
0.96 |
R7313:Ttc4
|
UTSW |
4 |
106,536,017 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7874:Ttc4
|
UTSW |
4 |
106,522,881 (GRCm39) |
missense |
probably benign |
0.40 |
R8341:Ttc4
|
UTSW |
4 |
106,522,893 (GRCm39) |
missense |
probably benign |
|
R9311:Ttc4
|
UTSW |
4 |
106,535,963 (GRCm39) |
missense |
probably benign |
0.03 |
R9689:Ttc4
|
UTSW |
4 |
106,528,919 (GRCm39) |
missense |
probably benign |
|
Z1177:Ttc4
|
UTSW |
4 |
106,525,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAAACAGTACCTGGTGTCCTC -3'
(R):5'- TAGGGGCTATCATCCAAATAACTGG -3'
Sequencing Primer
(F):5'- GTACCTGGTGTCCTCATGAAAAGC -3'
(R):5'- TAACTGGTATCCACTGTACCAGG -3'
|
Posted On |
2016-06-15 |