Incidental Mutation 'IGL00899:Ttc13'
| ID |
27981 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 125415586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041614
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Pfam:TPR_11
|
153 |
204 |
3e-8 |
PFAM |
|
Pfam:TPR_19
|
154 |
213 |
5.1e-8 |
PFAM |
|
Pfam:TPR_1
|
173 |
206 |
6.1e-10 |
PFAM |
|
Pfam:TPR_2
|
173 |
206 |
1.2e-7 |
PFAM |
|
Pfam:TPR_8
|
173 |
206 |
5.2e-8 |
PFAM |
|
Pfam:TPR_16
|
177 |
241 |
6.5e-11 |
PFAM |
|
Pfam:TPR_9
|
179 |
249 |
3.5e-6 |
PFAM |
|
Pfam:TPR_11
|
204 |
272 |
2.2e-8 |
PFAM |
|
Pfam:TPR_1
|
207 |
240 |
3.3e-5 |
PFAM |
|
Pfam:TPR_2
|
207 |
240 |
1.9e-5 |
PFAM |
|
Blast:UTG
|
692 |
755 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117624
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Blast:TPR
|
128 |
161 |
2e-13 |
BLAST |
|
TPR
|
162 |
194 |
1.08e1 |
SMART |
|
TPR
|
195 |
228 |
2.24e-7 |
SMART |
|
TPR
|
229 |
262 |
3.67e-3 |
SMART |
|
Blast:UTG
|
714 |
777 |
4e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118134
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
|
Blast:TPR
|
128 |
156 |
4e-10 |
BLAST |
|
TPR
|
181 |
214 |
5.56e-3 |
SMART |
|
TPR
|
215 |
248 |
1.17e-1 |
SMART |
|
TPR
|
249 |
282 |
2.24e-7 |
SMART |
|
TPR
|
283 |
316 |
3.67e-3 |
SMART |
|
Blast:UTG
|
768 |
831 |
1e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231984
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AU018091 |
A |
G |
7: 3,208,603 (GRCm39) |
I442T |
probably benign |
Het |
| Bpifb9a |
T |
C |
2: 154,106,647 (GRCm39) |
|
probably null |
Het |
| Ccp110 |
T |
A |
7: 118,321,907 (GRCm39) |
C521S |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,871,218 (GRCm39) |
|
probably benign |
Het |
| Cndp2 |
A |
T |
18: 84,695,501 (GRCm39) |
D133E |
probably damaging |
Het |
| Crygs |
T |
C |
16: 22,625,312 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,401,700 (GRCm39) |
G197R |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,352,932 (GRCm39) |
L656P |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,664,104 (GRCm39) |
P118L |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,278 (GRCm39) |
|
probably benign |
Het |
| Foxi1 |
G |
A |
11: 34,155,772 (GRCm39) |
T286I |
probably benign |
Het |
| Gimap5 |
G |
A |
6: 48,730,107 (GRCm39) |
A226T |
possibly damaging |
Het |
| Heatr1 |
C |
T |
13: 12,450,057 (GRCm39) |
A2017V |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,463 (GRCm39) |
S740G |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,365 (GRCm39) |
I617N |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,160,558 (GRCm39) |
L228P |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,365,779 (GRCm39) |
D143V |
possibly damaging |
Het |
| Krtdap |
T |
A |
7: 30,489,387 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,916,056 (GRCm39) |
T268S |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,292,354 (GRCm39) |
E183G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,440 (GRCm39) |
V2168D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,550,266 (GRCm39) |
S2721P |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,222 (GRCm39) |
I215L |
probably benign |
Het |
| Pqbp1 |
T |
C |
X: 7,762,243 (GRCm39) |
N94S |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,306,332 (GRCm39) |
S20P |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,601,350 (GRCm39) |
I151T |
probably benign |
Het |
| Rapgef6 |
G |
T |
11: 54,510,844 (GRCm39) |
E107* |
probably null |
Het |
| Slc2a13 |
T |
C |
15: 91,381,602 (GRCm39) |
T296A |
probably benign |
Het |
| Tcl1b4 |
A |
G |
12: 105,170,916 (GRCm39) |
T55A |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,545,922 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,491 (GRCm39) |
N440K |
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,728,663 (GRCm39) |
I205N |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,262,238 (GRCm39) |
D336G |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,338 (GRCm39) |
I336K |
probably benign |
Het |
| Zbtb26 |
G |
T |
2: 37,326,270 (GRCm39) |
Y255* |
probably null |
Het |
| Zfp462 |
T |
A |
4: 55,007,732 (GRCm39) |
V57E |
probably damaging |
Het |
|
| Other mutations in Ttc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01086:Ttc13
|
APN |
8 |
125,402,085 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01411:Ttc13
|
APN |
8 |
125,410,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Ttc13
|
APN |
8 |
125,403,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Ttc13
|
APN |
8 |
125,403,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Ttc13
|
APN |
8 |
125,400,477 (GRCm39) |
splice site |
probably benign |
|
|
IGL01967:Ttc13
|
APN |
8 |
125,439,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01995:Ttc13
|
APN |
8 |
125,415,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02456:Ttc13
|
APN |
8 |
125,417,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02816:Ttc13
|
APN |
8 |
125,439,415 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
3-1:Ttc13
|
UTSW |
8 |
125,405,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
LCD18:Ttc13
|
UTSW |
8 |
125,402,605 (GRCm39) |
intron |
probably benign |
|
|
R0126:Ttc13
|
UTSW |
8 |
125,410,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0391:Ttc13
|
UTSW |
8 |
125,401,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0602:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0629:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0638:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0714:Ttc13
|
UTSW |
8 |
125,401,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Ttc13
|
UTSW |
8 |
125,440,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2051:Ttc13
|
UTSW |
8 |
125,398,950 (GRCm39) |
splice site |
probably null |
|
|
R2324:Ttc13
|
UTSW |
8 |
125,405,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2404:Ttc13
|
UTSW |
8 |
125,405,736 (GRCm39) |
splice site |
probably benign |
|
|
R2571:Ttc13
|
UTSW |
8 |
125,410,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Ttc13
|
UTSW |
8 |
125,410,573 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3112:Ttc13
|
UTSW |
8 |
125,410,573 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4560:Ttc13
|
UTSW |
8 |
125,402,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Ttc13
|
UTSW |
8 |
125,402,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4563:Ttc13
|
UTSW |
8 |
125,402,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Ttc13
|
UTSW |
8 |
125,408,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Ttc13
|
UTSW |
8 |
125,401,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Ttc13
|
UTSW |
8 |
125,406,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Ttc13
|
UTSW |
8 |
125,421,674 (GRCm39) |
nonsense |
probably null |
|
|
R5397:Ttc13
|
UTSW |
8 |
125,402,002 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5619:Ttc13
|
UTSW |
8 |
125,406,683 (GRCm39) |
intron |
probably benign |
|
|
R5966:Ttc13
|
UTSW |
8 |
125,408,959 (GRCm39) |
intron |
probably benign |
|
|
R6092:Ttc13
|
UTSW |
8 |
125,405,772 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6321:Ttc13
|
UTSW |
8 |
125,409,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6439:Ttc13
|
UTSW |
8 |
125,400,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6737:Ttc13
|
UTSW |
8 |
125,408,900 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6804:Ttc13
|
UTSW |
8 |
125,426,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Ttc13
|
UTSW |
8 |
125,415,357 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7542:Ttc13
|
UTSW |
8 |
125,401,842 (GRCm39) |
splice site |
probably null |
|
|
R7905:Ttc13
|
UTSW |
8 |
125,415,335 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8769:Ttc13
|
UTSW |
8 |
125,405,816 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8792:Ttc13
|
UTSW |
8 |
125,401,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Ttc13
|
UTSW |
8 |
125,409,976 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8953:Ttc13
|
UTSW |
8 |
125,402,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Ttc13
|
UTSW |
8 |
125,410,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9151:Ttc13
|
UTSW |
8 |
125,402,021 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9221:Ttc13
|
UTSW |
8 |
125,400,290 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9251:Ttc13
|
UTSW |
8 |
125,401,992 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9502:Ttc13
|
UTSW |
8 |
125,410,010 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9600:Ttc13
|
UTSW |
8 |
125,415,284 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0027:Ttc13
|
UTSW |
8 |
125,400,328 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ttc13
|
UTSW |
8 |
125,421,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation