Incidental Mutation 'R6270:Ttc14'
ID |
533173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc14
|
Ensembl Gene |
ENSMUSG00000027677 |
Gene Name |
tetratricopeptide repeat domain 14 |
Synonyms |
4933402I15Rik, 4931403I22Rik, cI-44, 4930434D01Rik, 2700016E08Rik |
MMRRC Submission |
044441-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.385)
|
Stock # |
R6270 (G1)
|
Quality Score |
63.0073 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 33854537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 37
(T37K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196139]
[ENSMUST00000196975]
[ENSMUST00000198529]
[ENSMUST00000199222]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099153
AA Change: T37K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000096757 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108210
AA Change: T37K
PolyPhen 2
Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103845 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
coiled coil region
|
415 |
476 |
N/A |
INTRINSIC |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117915
AA Change: T37K
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112450 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
254 |
287 |
6.19e-1 |
SMART |
TPR
|
288 |
321 |
2.11e-3 |
SMART |
TPR
|
329 |
362 |
1.88e0 |
SMART |
coiled coil region
|
363 |
424 |
N/A |
INTRINSIC |
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196139
AA Change: T37K
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000143173 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
54 |
N/A |
INTRINSIC |
SCOP:d1go3e_
|
144 |
217 |
3e-5 |
SMART |
Blast:S1
|
154 |
217 |
2e-39 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196975
AA Change: T37K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000142684 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
4.6e-4 |
SMART |
TPR
|
254 |
287 |
3e-3 |
SMART |
TPR
|
288 |
321 |
1e-5 |
SMART |
TPR
|
329 |
362 |
9e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198529
AA Change: T37K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143073 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
Pfam:TPR_11
|
304 |
371 |
2.1e-12 |
PFAM |
Pfam:TPR_2
|
306 |
339 |
1.9e-4 |
PFAM |
Pfam:TPR_1
|
308 |
339 |
1.3e-4 |
PFAM |
Pfam:TPR_1
|
340 |
373 |
2.9e-5 |
PFAM |
Pfam:TPR_2
|
340 |
373 |
6.8e-4 |
PFAM |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199222
AA Change: T37K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142935 Gene: ENSMUSG00000027677 AA Change: T37K
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,242,933 (GRCm39) |
E648G |
probably benign |
Het |
Ak7 |
A |
G |
12: 105,734,960 (GRCm39) |
H642R |
probably benign |
Het |
Akap11 |
T |
C |
14: 78,756,239 (GRCm39) |
E53G |
probably damaging |
Het |
Ark2n |
T |
C |
18: 77,762,117 (GRCm39) |
D65G |
probably damaging |
Het |
Ddr2 |
T |
G |
1: 169,816,109 (GRCm39) |
T533P |
probably benign |
Het |
Dhx40 |
A |
G |
11: 86,690,431 (GRCm39) |
S197P |
possibly damaging |
Het |
Dolpp1 |
C |
A |
2: 30,282,281 (GRCm39) |
|
probably benign |
Het |
Eng |
A |
G |
2: 32,563,655 (GRCm39) |
D347G |
probably benign |
Het |
Esrra |
C |
T |
19: 6,891,488 (GRCm39) |
|
probably null |
Het |
Fap |
T |
C |
2: 62,378,132 (GRCm39) |
I159V |
probably damaging |
Het |
Fn1 |
C |
T |
1: 71,676,434 (GRCm39) |
C599Y |
probably damaging |
Het |
Fnbp4 |
T |
C |
2: 90,587,807 (GRCm39) |
V395A |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,676 (GRCm39) |
R163G |
probably damaging |
Het |
Gphn |
T |
G |
12: 78,569,724 (GRCm39) |
L306R |
probably benign |
Het |
Gse1 |
T |
C |
8: 121,295,902 (GRCm39) |
|
probably benign |
Het |
Habp2 |
A |
G |
19: 56,295,295 (GRCm39) |
D62G |
possibly damaging |
Het |
Hdac7 |
AGGG |
AGGGG |
15: 97,706,376 (GRCm39) |
|
probably null |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Kit |
A |
G |
5: 75,770,169 (GRCm39) |
T194A |
probably benign |
Het |
Krt16 |
C |
A |
11: 100,138,029 (GRCm39) |
A316S |
possibly damaging |
Het |
Krt7 |
A |
G |
15: 101,317,439 (GRCm39) |
D244G |
probably damaging |
Het |
Lhfpl3 |
T |
A |
5: 23,478,349 (GRCm39) |
Y77* |
probably null |
Het |
Lrrc18 |
A |
T |
14: 32,731,078 (GRCm39) |
M206L |
probably benign |
Het |
Magel2 |
C |
A |
7: 62,030,406 (GRCm39) |
C1103* |
probably null |
Het |
Mcf2l |
T |
C |
8: 13,068,701 (GRCm39) |
V1058A |
probably damaging |
Het |
Nbas |
G |
A |
12: 13,374,294 (GRCm39) |
A541T |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,308,630 (GRCm39) |
M1485I |
probably benign |
Het |
Nudt18 |
T |
C |
14: 70,816,830 (GRCm39) |
Y145H |
probably benign |
Het |
Or51b6b |
T |
C |
7: 103,309,620 (GRCm39) |
Y279C |
possibly damaging |
Het |
Or51f1d |
T |
C |
7: 102,700,538 (GRCm39) |
L11P |
probably benign |
Het |
Or5k8 |
A |
T |
16: 58,644,782 (GRCm39) |
C97S |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdhb12 |
A |
T |
18: 37,569,838 (GRCm39) |
Q328L |
possibly damaging |
Het |
Pde6c |
T |
C |
19: 38,146,884 (GRCm39) |
W431R |
probably damaging |
Het |
Pga5 |
T |
C |
19: 10,652,225 (GRCm39) |
E139G |
probably benign |
Het |
Pkdrej |
G |
T |
15: 85,705,306 (GRCm39) |
S210* |
probably null |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Sema3d |
A |
T |
5: 12,498,074 (GRCm39) |
M27L |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,825,170 (GRCm39) |
S200P |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,568,452 (GRCm39) |
D174G |
probably damaging |
Het |
Sult1b1 |
A |
T |
5: 87,665,413 (GRCm39) |
|
probably null |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,725 (GRCm39) |
I342M |
probably benign |
Het |
Tenm3 |
G |
A |
8: 48,820,429 (GRCm39) |
T136M |
probably damaging |
Het |
Tet3 |
T |
C |
6: 83,352,773 (GRCm39) |
T1008A |
possibly damaging |
Het |
Tgif1 |
T |
C |
17: 71,151,861 (GRCm39) |
|
probably null |
Het |
Trav15-2-dv6-2 |
A |
G |
14: 53,887,323 (GRCm39) |
D81G |
probably benign |
Het |
Trpv5 |
T |
A |
6: 41,651,293 (GRCm39) |
H251L |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,159 (GRCm39) |
I662L |
probably benign |
Het |
Vmn2r81 |
A |
G |
10: 79,129,649 (GRCm39) |
I847V |
probably benign |
Het |
Zfp474 |
A |
G |
18: 52,771,436 (GRCm39) |
T30A |
probably benign |
Het |
Zswim4 |
C |
T |
8: 84,957,580 (GRCm39) |
V163M |
probably damaging |
Het |
|
Other mutations in Ttc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01154:Ttc14
|
APN |
3 |
33,857,248 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01326:Ttc14
|
APN |
3 |
33,855,507 (GRCm39) |
missense |
probably benign |
0.14 |
R0196:Ttc14
|
UTSW |
3 |
33,863,403 (GRCm39) |
unclassified |
probably benign |
|
R0427:Ttc14
|
UTSW |
3 |
33,857,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Ttc14
|
UTSW |
3 |
33,857,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R2312:Ttc14
|
UTSW |
3 |
33,861,984 (GRCm39) |
splice site |
probably null |
|
R2434:Ttc14
|
UTSW |
3 |
33,855,227 (GRCm39) |
missense |
probably benign |
0.40 |
R4794:Ttc14
|
UTSW |
3 |
33,857,298 (GRCm39) |
missense |
probably benign |
0.00 |
R4825:Ttc14
|
UTSW |
3 |
33,855,518 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4888:Ttc14
|
UTSW |
3 |
33,861,024 (GRCm39) |
nonsense |
probably null |
|
R5143:Ttc14
|
UTSW |
3 |
33,863,050 (GRCm39) |
unclassified |
probably benign |
|
R6051:Ttc14
|
UTSW |
3 |
33,863,073 (GRCm39) |
unclassified |
probably benign |
|
R6415:Ttc14
|
UTSW |
3 |
33,857,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6439:Ttc14
|
UTSW |
3 |
33,862,968 (GRCm39) |
unclassified |
probably benign |
|
R7021:Ttc14
|
UTSW |
3 |
33,857,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R7571:Ttc14
|
UTSW |
3 |
33,863,400 (GRCm39) |
missense |
unknown |
|
R7751:Ttc14
|
UTSW |
3 |
33,863,590 (GRCm39) |
missense |
unknown |
|
R8021:Ttc14
|
UTSW |
3 |
33,863,270 (GRCm39) |
nonsense |
probably null |
|
R8388:Ttc14
|
UTSW |
3 |
33,854,735 (GRCm39) |
missense |
probably benign |
0.01 |
R8884:Ttc14
|
UTSW |
3 |
33,854,696 (GRCm39) |
missense |
unknown |
|
R9169:Ttc14
|
UTSW |
3 |
33,857,071 (GRCm39) |
nonsense |
probably null |
|
R9399:Ttc14
|
UTSW |
3 |
33,858,856 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9438:Ttc14
|
UTSW |
3 |
33,858,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Ttc14
|
UTSW |
3 |
33,857,347 (GRCm39) |
missense |
probably damaging |
0.96 |
R9663:Ttc14
|
UTSW |
3 |
33,855,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGTACGTGCTAAGCTCAG -3'
(R):5'- TTCTCTCTGGAAACGGGAGC -3'
Sequencing Primer
(F):5'- TACGTGCTAAGCTCAGGCGTC -3'
(R):5'- AGCAGGGAAGCTTTGGC -3'
|
Posted On |
2018-09-12 |