Incidental Mutation 'R9251:Ttc13'
| ID |
701553 |
| 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 # |
R9251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125401992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 589
(G589V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041614]
[ENSMUST00000117624]
[ENSMUST00000118134]
[ENSMUST00000214828]
[ENSMUST00000231984]
|
| AlphaFold |
A0A1L1SSC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041614
AA Change: G589V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000038484
Gene: ENSMUSG00000037300
AA Change: G589V
| 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: G611V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114043
Gene: ENSMUSG00000037300
AA Change: G611V
| 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
AA Change: G665V
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113383
Gene: ENSMUSG00000037300
AA Change: G665V
| 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
AA Change: G717V
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231984
AA Change: G588V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
G |
T |
16: 38,423,218 (GRCm39) |
N949K |
probably benign |
Het |
| Arv1 |
T |
A |
8: 125,452,062 (GRCm39) |
I76N |
probably damaging |
Het |
| Cfap44 |
G |
A |
16: 44,229,276 (GRCm39) |
A189T |
probably damaging |
Het |
| Ch25h |
T |
C |
19: 34,451,769 (GRCm39) |
Y253C |
probably damaging |
Het |
| Cnot11 |
T |
C |
1: 39,581,587 (GRCm39) |
M376T |
probably damaging |
Het |
| Cnot7 |
T |
C |
8: 40,964,622 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 118,012,618 (GRCm39) |
S481F |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,406,619 (GRCm39) |
R541Q |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,621,671 (GRCm39) |
M1151I |
probably damaging |
Het |
| Dpf2 |
T |
C |
19: 5,957,166 (GRCm39) |
D19G |
probably damaging |
Het |
| Eefsec |
A |
T |
6: 88,332,574 (GRCm39) |
M212K |
probably damaging |
Het |
| Elp6 |
G |
A |
9: 110,134,666 (GRCm39) |
V12I |
unknown |
Het |
| Enox1 |
G |
A |
14: 77,852,997 (GRCm39) |
|
probably null |
Het |
| Epha1 |
G |
T |
6: 42,341,777 (GRCm39) |
N424K |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,226,525 (GRCm39) |
S553P |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,687 (GRCm39) |
S278P |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,032,589 (GRCm39) |
|
probably null |
Het |
| Gm4846 |
T |
A |
1: 166,311,307 (GRCm39) |
R517S |
probably benign |
Het |
| Gnrhr |
A |
G |
5: 86,345,221 (GRCm39) |
L155P |
possibly damaging |
Het |
| Igfn1 |
C |
T |
1: 135,894,409 (GRCm39) |
|
probably benign |
Het |
| Ik |
T |
A |
18: 36,880,495 (GRCm39) |
|
probably null |
Het |
| Insrr |
A |
T |
3: 87,717,391 (GRCm39) |
Q763L |
probably benign |
Het |
| Klf5 |
G |
T |
14: 99,538,824 (GRCm39) |
C79F |
possibly damaging |
Het |
| Lrrcc1 |
A |
T |
3: 14,623,454 (GRCm39) |
R760S |
probably damaging |
Het |
| Map3k7 |
T |
A |
4: 32,002,080 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
C |
T |
2: 119,853,671 (GRCm39) |
A1159V |
probably benign |
Het |
| Mgst3 |
C |
T |
1: 167,205,860 (GRCm39) |
|
probably null |
Het |
| Mtch2 |
T |
A |
2: 90,679,980 (GRCm39) |
F71I |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,276,076 (GRCm39) |
I764V |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,088,425 (GRCm39) |
L896* |
probably null |
Het |
| Ndufs5 |
T |
G |
4: 123,606,628 (GRCm39) |
E103A |
probably benign |
Het |
| Nfe2l1 |
G |
A |
11: 96,710,421 (GRCm39) |
P603S |
probably damaging |
Het |
| Or6c211 |
T |
A |
10: 129,505,980 (GRCm39) |
N136I |
possibly damaging |
Het |
| Or8g34 |
A |
T |
9: 39,373,668 (GRCm39) |
M311L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,219,354 (GRCm39) |
N1093S |
|
Het |
| Pitpnb |
G |
A |
5: 111,533,390 (GRCm39) |
R258H |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,099,378 (GRCm39) |
E708G |
possibly damaging |
Het |
| Plppr4 |
T |
A |
3: 117,115,608 (GRCm39) |
T750S |
probably benign |
Het |
| Prrg4 |
T |
G |
2: 104,675,399 (GRCm39) |
E68A |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,328,701 (GRCm39) |
T90M |
possibly damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,093 (GRCm39) |
E189G |
probably damaging |
Het |
| Satb1 |
A |
G |
17: 52,112,293 (GRCm39) |
F107S |
probably damaging |
Het |
| Sdc3 |
A |
T |
4: 130,548,513 (GRCm39) |
|
probably benign |
Het |
| Slc22a3 |
A |
T |
17: 12,726,093 (GRCm39) |
V40D |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,048,027 (GRCm39) |
|
probably null |
Het |
| Slfn1 |
T |
C |
11: 83,012,121 (GRCm39) |
F79S |
probably damaging |
Het |
| Snrpg |
G |
T |
6: 86,353,557 (GRCm39) |
V46L |
probably benign |
Het |
| Tbl1xr1 |
G |
A |
3: 22,264,569 (GRCm39) |
C508Y |
probably benign |
Het |
| Thada |
A |
T |
17: 84,538,564 (GRCm39) |
D1481E |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,779,217 (GRCm39) |
V27A |
probably benign |
Het |
| Tns1 |
T |
C |
1: 74,030,855 (GRCm39) |
H300R |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,040,698 (GRCm39) |
I29V |
possibly damaging |
Het |
| Tubb4a |
T |
A |
17: 57,387,778 (GRCm39) |
N416I |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,177,636 (GRCm39) |
I1884N |
|
Het |
| Usp16 |
A |
G |
16: 87,266,640 (GRCm39) |
K175E |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,217,715 (GRCm39) |
I479M |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,512,531 (GRCm39) |
T2313A |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,974,442 (GRCm39) |
V368A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,923,880 (GRCm39) |
S701P |
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 |
|
|
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 |
|
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 |
2022-03-25 |
Incidental Mutation