Incidental Mutation 'R2571:Ttc13'
| ID |
252545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
040429-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2571 (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 C
at 125410538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 372
(Y372D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041614
AA Change: Y372D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: Y372D
| 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: Y394D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: Y394D
| 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: Y448D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: Y448D
| 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 damaging
Transcript: ENSMUST00000214828
AA Change: Y501D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231984
AA Change: Y372D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,289,044 (GRCm39) |
N2438S |
probably benign |
Het |
| Ago3 |
G |
A |
4: 126,257,604 (GRCm39) |
R476W |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,534,429 (GRCm39) |
E339G |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,395,498 (GRCm39) |
V658A |
probably damaging |
Het |
| Bcl3 |
T |
C |
7: 19,543,452 (GRCm39) |
D338G |
probably damaging |
Het |
| Bpnt2 |
C |
T |
4: 4,778,192 (GRCm39) |
|
probably null |
Het |
| Ccdc138 |
T |
C |
10: 58,349,044 (GRCm39) |
Y197H |
probably benign |
Het |
| Ccdc162 |
T |
A |
10: 41,428,393 (GRCm39) |
Q499L |
probably damaging |
Het |
| Ccser1 |
G |
A |
6: 61,399,944 (GRCm39) |
C21Y |
probably damaging |
Het |
| Chil6 |
A |
T |
3: 106,297,709 (GRCm39) |
Y229* |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 116,112,092 (GRCm39) |
R461C |
probably damaging |
Het |
| Col19a1 |
T |
A |
1: 24,413,712 (GRCm39) |
R407S |
unknown |
Het |
| Crlf3 |
A |
T |
11: 79,938,339 (GRCm39) |
F433I |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
T |
5: 124,852,542 (GRCm39) |
R1867W |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,673,062 (GRCm39) |
V911A |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,792,581 (GRCm39) |
|
probably null |
Het |
| Evpl |
T |
C |
11: 116,128,795 (GRCm39) |
Q10R |
unknown |
Het |
| Glra3 |
C |
T |
8: 56,563,516 (GRCm39) |
A337V |
probably benign |
Het |
| H2-T5 |
C |
T |
17: 36,478,553 (GRCm39) |
G132R |
possibly damaging |
Het |
| Hcfc2 |
T |
C |
10: 82,544,857 (GRCm39) |
F163S |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,948,177 (GRCm39) |
V701A |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,504,778 (GRCm39) |
T422A |
probably benign |
Het |
| Hhat |
G |
A |
1: 192,235,330 (GRCm39) |
T442I |
probably damaging |
Het |
| Hmces |
A |
T |
6: 87,913,202 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Ighv1-62-1 |
T |
A |
12: 115,350,377 (GRCm39) |
T97S |
probably damaging |
Het |
| Kcne2 |
C |
T |
16: 92,093,800 (GRCm39) |
T109I |
probably damaging |
Het |
| Kcnq1 |
T |
G |
7: 142,661,433 (GRCm39) |
L113R |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 940,932 (GRCm39) |
S1106P |
probably benign |
Het |
| Kel |
C |
A |
6: 41,665,001 (GRCm39) |
A588S |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,706,885 (GRCm39) |
F1483I |
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,829,692 (GRCm39) |
N279Y |
probably damaging |
Het |
| Lama4 |
T |
A |
10: 38,918,671 (GRCm39) |
M384K |
possibly damaging |
Het |
| Lepr |
C |
T |
4: 101,625,369 (GRCm39) |
T508I |
possibly damaging |
Het |
| Lypd10 |
A |
G |
7: 24,412,819 (GRCm39) |
I76V |
probably benign |
Het |
| Map1lc3b |
T |
A |
8: 122,320,213 (GRCm39) |
|
probably null |
Het |
| Me1 |
T |
C |
9: 86,536,751 (GRCm39) |
H108R |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,261,770 (GRCm39) |
S560P |
probably damaging |
Het |
| Mmp3 |
T |
A |
9: 7,451,844 (GRCm39) |
I394N |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,124,896 (GRCm39) |
S826P |
probably damaging |
Het |
| Or13n4 |
T |
A |
7: 106,422,933 (GRCm39) |
M267L |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,945,667 (GRCm39) |
L138P |
probably damaging |
Het |
| Pcdhga11 |
G |
A |
18: 37,889,921 (GRCm39) |
E310K |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,726,131 (GRCm39) |
D39G |
probably damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,852,810 (GRCm39) |
T63I |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,682,381 (GRCm39) |
Q25R |
probably benign |
Het |
| Ptk2 |
A |
G |
15: 73,103,768 (GRCm39) |
L94P |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,122,135 (GRCm38) |
F333S |
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,312 (GRCm39) |
H207Q |
probably damaging |
Het |
| Rps6ka1 |
G |
T |
4: 133,587,923 (GRCm39) |
|
probably null |
Het |
| Rps6ka4 |
G |
T |
19: 6,815,471 (GRCm39) |
H174Q |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,083,613 (GRCm39) |
T92K |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,708,987 (GRCm39) |
M4793K |
unknown |
Het |
| Ryr1 |
T |
A |
7: 28,735,551 (GRCm39) |
M4076L |
possibly damaging |
Het |
| Sec16a |
A |
C |
2: 26,329,343 (GRCm39) |
S891A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,241,340 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sos2 |
T |
A |
12: 69,682,492 (GRCm39) |
E242V |
possibly damaging |
Het |
| Spata31d1c |
G |
T |
13: 65,184,198 (GRCm39) |
R580L |
probably damaging |
Het |
| Spata9 |
C |
A |
13: 76,115,880 (GRCm39) |
|
probably benign |
Het |
| Tead2 |
T |
A |
7: 44,875,194 (GRCm39) |
V202E |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,762,068 (GRCm39) |
K168E |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
| Tra2a |
G |
T |
6: 49,229,421 (GRCm39) |
|
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,078,533 (GRCm39) |
N181I |
possibly damaging |
Het |
| Vit |
T |
C |
17: 78,894,174 (GRCm39) |
V192A |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,064,764 (GRCm39) |
T41A |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,875,706 (GRCm39) |
K1600N |
probably benign |
Het |
| Xpnpep3 |
A |
T |
15: 81,335,127 (GRCm39) |
H420L |
probably damaging |
Het |
| Zfp322a |
A |
G |
13: 23,540,614 (GRCm39) |
L376P |
probably damaging |
Het |
| Zfp619 |
T |
C |
7: 39,186,595 (GRCm39) |
L875P |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,696,890 (GRCm39) |
Q575L |
unknown |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCTGGAAGAACTCACTG -3'
(R):5'- GCCACATGACTTGCAAAGAG -3'
Sequencing Primer
(F):5'- GAGCTGGAAGAACTCACTGAACTATC -3'
(R):5'- CCACATGACTTGCAAAGAGTGGTTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation