Incidental Mutation 'R7542:Ttc13'
| ID |
585977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
045614-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7542 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
splice site (119 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 125401842 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000214828
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231984
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,848 (GRCm39) |
T439S |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,732 (GRCm39) |
S1552T |
|
Het |
| Akap6 |
A |
G |
12: 53,116,017 (GRCm39) |
E1040G |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,606,344 (GRCm39) |
T2196S |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,582 (GRCm39) |
Q89R |
possibly damaging |
Het |
| AW551984 |
T |
A |
9: 39,505,927 (GRCm39) |
E423D |
possibly damaging |
Het |
| Ccpg1 |
T |
A |
9: 72,919,741 (GRCm39) |
V452D |
probably damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,190 (GRCm39) |
F286L |
probably damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Clgn |
A |
T |
8: 84,122,174 (GRCm39) |
S32C |
possibly damaging |
Het |
| Csk |
C |
A |
9: 57,536,283 (GRCm39) |
|
probably null |
Het |
| Dchs2 |
A |
G |
3: 83,176,591 (GRCm39) |
T850A |
probably benign |
Het |
| Defb2 |
T |
C |
8: 22,333,360 (GRCm39) |
V45A |
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,621,599 (GRCm39) |
Q777R |
probably damaging |
Het |
| Dll1 |
C |
T |
17: 15,590,609 (GRCm39) |
C369Y |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,823,658 (GRCm39) |
I3766V |
probably benign |
Het |
| Elapor1 |
A |
T |
3: 108,365,543 (GRCm39) |
|
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,764,815 (GRCm39) |
M297T |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,504 (GRCm39) |
D3052G |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,035,770 (GRCm39) |
I3141F |
possibly damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,741,422 (GRCm39) |
V180A |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,560,000 (GRCm39) |
D1502E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,196 (GRCm39) |
N3643I |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,207 (GRCm39) |
S335P |
probably damaging |
Het |
| Glb1l3 |
C |
A |
9: 26,729,491 (GRCm39) |
A659S |
possibly damaging |
Het |
| Gm8011 |
A |
T |
14: 42,288,741 (GRCm39) |
R175* |
probably null |
Het |
| Gna15 |
A |
G |
10: 81,350,136 (GRCm39) |
S89P |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,368 (GRCm39) |
L172Q |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,415 (GRCm39) |
T203A |
possibly damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,245,138 (GRCm39) |
D476G |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,905,387 (GRCm39) |
T216A |
possibly damaging |
Het |
| Kdm2a |
G |
A |
19: 4,383,858 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,553,094 (GRCm39) |
I1332T |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,007 (GRCm39) |
C317R |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,272,354 (GRCm39) |
V707A |
probably benign |
Het |
| Mcph1 |
C |
T |
8: 18,681,705 (GRCm39) |
R281C |
probably benign |
Het |
| Med25 |
A |
T |
7: 44,541,215 (GRCm39) |
D99E |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,322,642 (GRCm39) |
D62E |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,964 (GRCm39) |
T478S |
probably damaging |
Het |
| Myod1 |
A |
T |
7: 46,026,097 (GRCm39) |
M1L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,394 (GRCm39) |
M741K |
possibly damaging |
Het |
| Odf2l |
A |
C |
3: 144,859,197 (GRCm39) |
K618T |
probably damaging |
Het |
| Or4c107 |
A |
T |
2: 88,789,119 (GRCm39) |
E103V |
probably benign |
Het |
| Pcdha2 |
G |
A |
18: 37,073,142 (GRCm39) |
G258R |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,080,784 (GRCm39) |
A509T |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,673,971 (GRCm39) |
V315A |
possibly damaging |
Het |
| Prim1 |
T |
C |
10: 127,853,903 (GRCm39) |
V107A |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,822,146 (GRCm39) |
|
probably null |
Het |
| Rab7b |
C |
T |
1: 131,639,379 (GRCm39) |
H182Y |
probably benign |
Het |
| Reln |
C |
A |
5: 22,160,179 (GRCm39) |
G2130V |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,941,296 (GRCm39) |
M1K |
probably null |
Het |
| Rras |
G |
A |
7: 44,669,766 (GRCm39) |
R94Q |
probably damaging |
Het |
| Rundc3a |
T |
A |
11: 102,290,871 (GRCm39) |
L318Q |
probably benign |
Het |
| Scgb2b18 |
A |
T |
7: 32,872,747 (GRCm39) |
|
probably null |
Het |
| Setd1b |
A |
T |
5: 123,286,510 (GRCm39) |
M519L |
unknown |
Het |
| Tep1 |
G |
A |
14: 51,099,948 (GRCm39) |
Q426* |
probably null |
Het |
| Tesk1 |
G |
T |
4: 43,445,941 (GRCm39) |
M291I |
probably benign |
Het |
| Tgs1 |
A |
G |
4: 3,595,439 (GRCm39) |
D536G |
probably benign |
Het |
| Thbs1 |
C |
T |
2: 117,951,655 (GRCm39) |
T825M |
probably damaging |
Het |
| Tmem59l |
T |
C |
8: 70,937,814 (GRCm39) |
N189D |
possibly damaging |
Het |
| Trim30c |
A |
T |
7: 104,031,425 (GRCm39) |
D463E |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,223,075 (GRCm39) |
Y706C |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,582,729 (GRCm39) |
K140E |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,755,327 (GRCm39) |
I345V |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,488 (GRCm39) |
M242V |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,817,785 (GRCm39) |
V509A |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,443 (GRCm39) |
C402R |
probably benign |
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 |
|
|
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 |
|
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'- TTGCTCCAAGGAGTACTAGAAAG -3'
(R):5'- AGGACACAGCTGTATCACGC -3'
Sequencing Primer
(F):5'- GGCTGAGACAATTACAATTGATTTC -3'
(R):5'- CAGCTGTATCACGCTGAAATAGATGC -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation