Incidental Mutation 'R4560:Ttc13'
| ID |
343047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125402016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 657
(L657P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041614
AA Change: L581P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: L581P
| 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 damaging
Transcript: ENSMUST00000117624
AA Change: L603P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: L603P
| 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 damaging
Transcript: ENSMUST00000118134
AA Change: L657P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: L657P
| 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: ENSMUST00000126674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130344
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140350
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214828
AA Change: L709P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231984
AA Change: L580P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4963 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
C |
14: 56,016,407 (GRCm39) |
|
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,689,950 (GRCm39) |
L594* |
probably null |
Het |
| Atp8b1 |
C |
T |
18: 64,701,318 (GRCm39) |
V347I |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,392,745 (GRCm39) |
D342G |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,867,084 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ccdc89 |
T |
G |
7: 90,076,336 (GRCm39) |
L182R |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,233,568 (GRCm39) |
F537S |
probably benign |
Het |
| Cidec |
A |
T |
6: 113,405,399 (GRCm39) |
M118K |
probably damaging |
Het |
| Cog8 |
A |
T |
8: 107,778,843 (GRCm39) |
|
probably null |
Het |
| Ctif |
A |
T |
18: 75,652,952 (GRCm39) |
L435Q |
probably damaging |
Het |
| Dhx9 |
A |
G |
1: 153,342,903 (GRCm39) |
V533A |
probably damaging |
Het |
| Drc1 |
T |
A |
5: 30,520,441 (GRCm39) |
M594K |
probably benign |
Het |
| Dthd1 |
C |
T |
5: 62,984,435 (GRCm39) |
T380I |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,156,777 (GRCm39) |
S3475P |
possibly damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,161,970 (GRCm39) |
V140A |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,857 (GRCm39) |
C243Y |
probably damaging |
Het |
| Il21 |
C |
A |
3: 37,279,633 (GRCm39) |
E128* |
probably null |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Me3 |
G |
T |
7: 89,498,938 (GRCm39) |
R506L |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,234,855 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,633,528 (GRCm39) |
N2311S |
probably benign |
Het |
| Nomo1 |
G |
T |
7: 45,690,904 (GRCm39) |
V97L |
probably damaging |
Het |
| Pcdhb11 |
G |
A |
18: 37,556,787 (GRCm39) |
V706I |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,282,082 (GRCm39) |
R2920C |
probably damaging |
Het |
| Prox2 |
T |
C |
12: 85,141,817 (GRCm39) |
T129A |
probably benign |
Het |
| Rgs18 |
T |
G |
1: 144,631,720 (GRCm39) |
I131L |
probably benign |
Het |
| Rnf19b |
G |
T |
4: 128,965,616 (GRCm39) |
C57F |
probably damaging |
Het |
| Rpl11 |
T |
C |
4: 135,778,522 (GRCm39) |
Y122C |
probably damaging |
Het |
| Sarnp |
A |
G |
10: 128,682,412 (GRCm39) |
K5R |
probably damaging |
Het |
| Scg2 |
A |
T |
1: 79,412,898 (GRCm39) |
H568Q |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,019,417 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Smco2 |
T |
A |
6: 146,772,674 (GRCm39) |
V292D |
possibly damaging |
Het |
| Smok3c |
A |
G |
5: 138,062,746 (GRCm39) |
M78V |
probably benign |
Het |
| Spag16 |
C |
A |
1: 69,883,455 (GRCm39) |
F61L |
probably benign |
Het |
| Spata22 |
G |
A |
11: 73,236,585 (GRCm39) |
R297H |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,889,571 (GRCm39) |
S750P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,368 (GRCm39) |
P536Q |
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Trim9 |
A |
C |
12: 70,393,892 (GRCm39) |
Y17* |
probably null |
Het |
| Tsga10 |
A |
G |
1: 37,846,163 (GRCm39) |
M321T |
probably benign |
Het |
| Ubxn1 |
C |
T |
19: 8,851,588 (GRCm39) |
T207I |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,678,851 (GRCm39) |
V791D |
probably damaging |
Het |
| Vps54 |
C |
G |
11: 21,262,260 (GRCm39) |
C785W |
possibly damaging |
Het |
| Zfp616 |
A |
G |
11: 73,973,860 (GRCm39) |
D43G |
probably benign |
Het |
| Zfp952 |
A |
G |
17: 33,222,928 (GRCm39) |
H469R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCCTCAGTGAAACAGG -3'
(R):5'- TGAGCCTCCCACAACTTCTG -3'
Sequencing Primer
(F):5'- GCCTAGCACACTGGAGTTCTTAG -3'
(R):5'- GCAGCCACCATTAGCATTCGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation