Incidental Mutation 'R8792:Ttc13'
| ID |
671001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc13
|
| Ensembl Gene |
ENSMUSG00000037300 |
| Gene Name |
tetratricopeptide repeat domain 13 |
| Synonyms |
|
| MMRRC Submission |
068635-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8792 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125398071-125448722 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 125401099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038484
(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 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 |
probably benign
Transcript: ENSMUST00000214828
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231984
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
All alleles(3) : Gene trapped(3) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
T |
C |
15: 81,793,697 (GRCm39) |
I382T |
probably damaging |
Het |
| Adam39 |
G |
T |
8: 41,279,613 (GRCm39) |
R668L |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,455,310 (GRCm39) |
I709T |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,836,522 (GRCm39) |
E692G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,536 (GRCm39) |
L440P |
probably benign |
Het |
| Atosb |
G |
A |
4: 43,033,546 (GRCm39) |
P536S |
probably damaging |
Het |
| Bmf |
A |
G |
2: 118,377,386 (GRCm39) |
F121L |
probably damaging |
Het |
| Cblif |
C |
A |
19: 11,727,599 (GRCm39) |
A141E |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,269 (GRCm39) |
F262L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,410,574 (GRCm39) |
D99V |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,642,189 (GRCm39) |
T102S |
|
Het |
| Eps15 |
T |
C |
4: 109,162,908 (GRCm39) |
V67A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,103 (GRCm39) |
L4H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,951,769 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
C |
T |
5: 138,269,251 (GRCm39) |
V70M |
probably damaging |
Het |
| Garin2 |
C |
T |
12: 78,761,924 (GRCm39) |
T196M |
probably damaging |
Het |
| Got1l1 |
C |
A |
8: 27,690,749 (GRCm39) |
|
probably null |
Het |
| Gpr146 |
A |
G |
5: 139,378,549 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,558,137 (GRCm39) |
V346M |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,372,768 (GRCm39) |
P3108Q |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,226 (GRCm39) |
S48G |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,835,104 (GRCm39) |
|
probably benign |
Het |
| Ift70a1 |
C |
A |
2: 75,811,898 (GRCm39) |
E62* |
probably null |
Het |
| Lama4 |
T |
G |
10: 38,924,048 (GRCm39) |
I485M |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,325,300 (GRCm39) |
T1375I |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,463,549 (GRCm39) |
Y544C |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,821,773 (GRCm39) |
Q692* |
probably null |
Het |
| Mark2 |
G |
T |
19: 7,258,580 (GRCm39) |
H570N |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,870,682 (GRCm39) |
|
probably benign |
Het |
| Mnx1 |
G |
A |
5: 29,683,372 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
A |
T |
2: 147,019,813 (GRCm39) |
V208E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,050,919 (GRCm39) |
I1058V |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,047 (GRCm39) |
I877T |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,508,669 (GRCm39) |
N509I |
possibly damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,471 (GRCm39) |
L12P |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,231 (GRCm39) |
Y49C |
probably benign |
Het |
| Or4f14b |
G |
C |
2: 111,775,073 (GRCm39) |
H243D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,332 (GRCm39) |
N73S |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,065,984 (GRCm39) |
F580L |
probably benign |
Het |
| Parvg |
C |
A |
15: 84,213,160 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,541 (GRCm39) |
V549A |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,534 (GRCm39) |
H374L |
probably benign |
Het |
| Pgap4 |
T |
C |
4: 49,587,067 (GRCm39) |
T34A |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,970,981 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,729,924 (GRCm39) |
F69L |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,347,456 (GRCm39) |
I1123V |
unknown |
Het |
| Rida |
C |
T |
15: 34,495,242 (GRCm39) |
V8M |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,952,478 (GRCm39) |
C139S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,095,091 (GRCm39) |
I1254M |
unknown |
Het |
| Rpl3l |
A |
G |
17: 24,947,447 (GRCm39) |
T2A |
possibly damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,022,942 (GRCm39) |
I147N |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,673,390 (GRCm39) |
T727I |
probably damaging |
Het |
| Slc25a16 |
C |
T |
10: 62,764,119 (GRCm39) |
R59* |
probably null |
Het |
| Strc |
T |
A |
2: 121,208,286 (GRCm39) |
I362F |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,538,499 (GRCm39) |
T382S |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,328,328 (GRCm39) |
D556V |
probably damaging |
Het |
| Usp43 |
T |
A |
11: 67,767,244 (GRCm39) |
K709* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,840,230 (GRCm39) |
N1771K |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,669 (GRCm39) |
I81V |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,346,986 (GRCm39) |
T116A |
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 |
|
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 |
|
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'- TAAATCCCCTTCATGGTTGGCC -3'
(R):5'- TTTCTAACTAAGCACGCCAGCC -3'
Sequencing Primer
(F):5'- GTCTCCTCAGGGTTACCATTAAAGG -3'
(R):5'- TAAGCACGCCAGCCCTGAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation