Incidental Mutation 'R5966:Ttc13'
| ID |
472106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
044151-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5966 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 125408959 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 |
noncoding transcript
Transcript: ENSMUST00000128390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231984
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
94% (79/84) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
T |
10: 115,415,717 (GRCm39) |
|
probably benign |
Het |
| Acaa2 |
T |
C |
18: 74,937,223 (GRCm39) |
L369S |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,313,140 (GRCm39) |
S328P |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,719,546 (GRCm39) |
Y214C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,354,140 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,466,716 (GRCm39) |
T2160I |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,204,330 (GRCm39) |
S1251P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,573 (GRCm39) |
E488G |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,797,908 (GRCm39) |
I411F |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,297,595 (GRCm39) |
Q914* |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,566,083 (GRCm39) |
D827G |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,946,001 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,315,779 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,713,135 (GRCm39) |
D1509V |
probably damaging |
Het |
| Ddx51 |
A |
G |
5: 110,804,717 (GRCm39) |
D543G |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 87,222,261 (GRCm39) |
I408F |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,390,325 (GRCm39) |
P213L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,262 (GRCm39) |
T3327A |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,078,817 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,546,225 (GRCm39) |
E791G |
possibly damaging |
Het |
| Ehd3 |
G |
T |
17: 74,134,356 (GRCm39) |
W238C |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,134,361 (GRCm39) |
L240R |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,824,766 (GRCm39) |
V2357A |
unknown |
Het |
| Fam20c |
T |
C |
5: 138,741,932 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm4781 |
T |
C |
10: 100,232,814 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,058 (GRCm39) |
S827T |
unknown |
Het |
| Grm3 |
A |
T |
5: 9,561,930 (GRCm39) |
I640N |
probably damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,747 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
G |
T |
15: 97,700,372 (GRCm39) |
H572Q |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,313,735 (GRCm39) |
Q1389* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,893,152 (GRCm39) |
V2099A |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,888,531 (GRCm39) |
N443S |
possibly damaging |
Het |
| Impact |
A |
G |
18: 13,123,601 (GRCm39) |
K315E |
probably benign |
Het |
| Insr |
C |
A |
8: 3,308,697 (GRCm39) |
R113L |
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,260,954 (GRCm39) |
Y317N |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,122,411 (GRCm39) |
V162E |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,762 (GRCm39) |
V319A |
unknown |
Het |
| Lepr |
T |
C |
4: 101,649,324 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,137,938 (GRCm39) |
T647I |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,405,854 (GRCm39) |
R147Q |
probably benign |
Het |
| Mtr |
T |
C |
13: 12,230,453 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,652 (GRCm39) |
|
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,471 (GRCm39) |
T362M |
possibly damaging |
Het |
| Or1j17 |
G |
T |
2: 36,578,074 (GRCm39) |
R20L |
probably null |
Het |
| Or1q1 |
T |
C |
2: 36,886,957 (GRCm39) |
I45T |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,222 (GRCm39) |
S276P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,601,630 (GRCm39) |
R131C |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,905,998 (GRCm39) |
V323A |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,295 (GRCm39) |
M134L |
probably benign |
Het |
| Pecam1 |
G |
A |
11: 106,581,887 (GRCm39) |
T252M |
probably benign |
Het |
| Rnd3 |
T |
A |
2: 51,022,536 (GRCm39) |
I169F |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,444,689 (GRCm39) |
D219E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,315 (GRCm39) |
F491L |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,677,124 (GRCm39) |
C3242* |
probably null |
Het |
| Smurf2 |
G |
T |
11: 106,766,727 (GRCm39) |
R31S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,873 (GRCm39) |
I1333T |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,527,580 (GRCm39) |
C1279Y |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,753 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,929,636 (GRCm39) |
D301V |
probably benign |
Het |
| Tbcd |
G |
T |
11: 121,492,737 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,712 (GRCm39) |
I566T |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,374,921 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
T |
C |
17: 56,478,799 (GRCm39) |
F30L |
probably benign |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,433 (GRCm39) |
C118S |
probably damaging |
Het |
| Ubqln3 |
A |
T |
7: 103,790,906 (GRCm39) |
S395T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,754,827 (GRCm39) |
D178G |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,222 (GRCm39) |
I1901V |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,112 (GRCm39) |
I116F |
probably benign |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,688 (GRCm39) |
R151H |
probably damaging |
Het |
|
| Other mutations in Ttc13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Ttc13
|
APN |
8 |
125,415,586 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGTGGGTGCACAGCTAC -3'
(R):5'- GGGTTGCCAGGTTTCTAAGC -3'
Sequencing Primer
(F):5'- ACAGCTACCCTGGGTGTGTTC -3'
(R):5'- AGGTTTCTAAGCCACCAGTTAGC -3'
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| Posted On |
2017-03-31 |
Incidental Mutation