Incidental Mutation 'R1981:Ttc17'
ID |
222260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc17
|
Ensembl Gene |
ENSMUSG00000027194 |
Gene Name |
tetratricopeptide repeat domain 17 |
Synonyms |
D2Bwg1005e, 9130020K17Rik |
MMRRC Submission |
039993-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.556)
|
Stock # |
R1981 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94157049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 411
(N411S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
AlphaFold |
E9PVB5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055081
AA Change: N411S
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000061360 Gene: ENSMUSG00000027194 AA Change: N411S
Domain | Start | End | E-Value | Type |
TPR
|
46 |
79 |
1.33e1 |
SMART |
Blast:TPR
|
82 |
115 |
3e-10 |
BLAST |
TPR
|
116 |
149 |
4.91e-4 |
SMART |
low complexity region
|
326 |
344 |
N/A |
INTRINSIC |
TPR
|
499 |
532 |
2.43e1 |
SMART |
TPR
|
535 |
568 |
6.75e1 |
SMART |
TPR
|
569 |
602 |
6.84e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094801
|
SMART Domains |
Protein: ENSMUSP00000092395 Gene: ENSMUSG00000027194
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
internal_repeat_1
|
113 |
271 |
7.26e-16 |
PROSPERO |
low complexity region
|
275 |
293 |
N/A |
INTRINSIC |
TPR
|
295 |
328 |
1.39e-3 |
SMART |
coiled coil region
|
340 |
382 |
N/A |
INTRINSIC |
TPR
|
619 |
652 |
1.33e1 |
SMART |
Blast:TPR
|
655 |
688 |
3e-10 |
BLAST |
TPR
|
689 |
722 |
4.91e-4 |
SMART |
low complexity region
|
899 |
917 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111237
AA Change: N927S
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000106868 Gene: ENSMUSG00000027194 AA Change: N927S
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
Blast:TPR
|
225 |
258 |
8e-11 |
BLAST |
low complexity region
|
275 |
293 |
N/A |
INTRINSIC |
TPR
|
295 |
328 |
1.39e-3 |
SMART |
TPR
|
619 |
652 |
1.33e1 |
SMART |
Blast:TPR
|
655 |
688 |
4e-10 |
BLAST |
TPR
|
689 |
722 |
4.91e-4 |
SMART |
low complexity region
|
842 |
860 |
N/A |
INTRINSIC |
TPR
|
1015 |
1048 |
2.43e1 |
SMART |
TPR
|
1051 |
1084 |
6.75e1 |
SMART |
TPR
|
1085 |
1118 |
6.84e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111238
AA Change: N984S
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106869 Gene: ENSMUSG00000027194 AA Change: N984S
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
internal_repeat_2
|
113 |
271 |
8.31e-15 |
PROSPERO |
low complexity region
|
275 |
293 |
N/A |
INTRINSIC |
TPR
|
295 |
328 |
1.39e-3 |
SMART |
coiled coil region
|
340 |
382 |
N/A |
INTRINSIC |
TPR
|
619 |
652 |
1.33e1 |
SMART |
Blast:TPR
|
655 |
688 |
4e-10 |
BLAST |
TPR
|
689 |
722 |
4.91e-4 |
SMART |
low complexity region
|
899 |
917 |
N/A |
INTRINSIC |
TPR
|
1072 |
1105 |
2.43e1 |
SMART |
TPR
|
1108 |
1141 |
6.75e1 |
SMART |
TPR
|
1142 |
1175 |
6.84e-3 |
SMART |
|
Meta Mutation Damage Score |
0.1385 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anks1 |
T |
C |
17: 28,204,095 (GRCm39) |
V181A |
probably damaging |
Het |
Aqp4 |
T |
C |
18: 15,526,608 (GRCm39) |
D291G |
probably damaging |
Het |
Atad1 |
G |
T |
19: 32,673,210 (GRCm39) |
D224E |
probably benign |
Het |
Atp1a3 |
T |
G |
7: 24,700,400 (GRCm39) |
E33A |
probably benign |
Het |
Baz2b |
A |
G |
2: 59,754,024 (GRCm39) |
F1100L |
possibly damaging |
Het |
Car7 |
C |
T |
8: 105,275,009 (GRCm39) |
|
probably benign |
Het |
Casp8 |
C |
A |
1: 58,868,121 (GRCm39) |
|
probably null |
Het |
Cdh23 |
A |
T |
10: 60,214,530 (GRCm39) |
L1495H |
probably damaging |
Het |
Ceacam9 |
T |
G |
7: 16,459,232 (GRCm39) |
L177R |
probably benign |
Het |
Col16a1 |
C |
G |
4: 129,959,236 (GRCm39) |
P346A |
unknown |
Het |
Cyp2c29 |
A |
G |
19: 39,296,216 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
T |
C |
5: 137,910,118 (GRCm39) |
S139G |
probably damaging |
Het |
Dapk2 |
A |
G |
9: 66,176,180 (GRCm39) |
H327R |
probably benign |
Het |
Ddx19b |
T |
C |
8: 111,735,975 (GRCm39) |
T357A |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,365,151 (GRCm39) |
Y1944H |
probably damaging |
Het |
Dnai2 |
T |
A |
11: 114,623,755 (GRCm39) |
V6E |
probably damaging |
Het |
Eipr1 |
T |
C |
12: 28,913,024 (GRCm39) |
Y242H |
probably damaging |
Het |
Fam149a |
T |
G |
8: 45,834,778 (GRCm39) |
D7A |
probably damaging |
Het |
Fam217a |
T |
A |
13: 35,100,737 (GRCm39) |
D140V |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,045,813 (GRCm39) |
C3944Y |
probably damaging |
Het |
Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
Gcsam |
A |
T |
16: 45,440,337 (GRCm39) |
T127S |
probably damaging |
Het |
Git2 |
C |
T |
5: 114,887,620 (GRCm39) |
|
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,969,984 (GRCm39) |
|
probably null |
Het |
Gtf3c1 |
A |
G |
7: 125,243,444 (GRCm39) |
L1720P |
possibly damaging |
Het |
H2-T9 |
T |
A |
17: 36,439,614 (GRCm39) |
D122V |
probably damaging |
Het |
Hat1 |
A |
G |
2: 71,220,321 (GRCm39) |
T28A |
probably benign |
Het |
Igf2r |
G |
A |
17: 12,952,790 (GRCm39) |
Q219* |
probably null |
Het |
Impdh1 |
T |
A |
6: 29,206,450 (GRCm39) |
D129V |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Ltbp3 |
A |
G |
19: 5,808,107 (GRCm39) |
Q1250R |
probably benign |
Het |
Mansc4 |
T |
A |
6: 146,977,173 (GRCm39) |
I148F |
probably benign |
Het |
Mast2 |
T |
C |
4: 116,172,037 (GRCm39) |
Y569C |
probably damaging |
Het |
Mcoln3 |
A |
T |
3: 145,846,345 (GRCm39) |
K552* |
probably null |
Het |
Mctp2 |
T |
C |
7: 71,814,446 (GRCm39) |
Q601R |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
Myo19 |
A |
T |
11: 84,782,996 (GRCm39) |
Q170L |
possibly damaging |
Het |
Myo1h |
T |
C |
5: 114,491,898 (GRCm39) |
F676S |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,801,429 (GRCm39) |
T1876A |
probably benign |
Het |
Nav3 |
G |
T |
10: 109,554,951 (GRCm39) |
|
probably benign |
Het |
Ndor1 |
T |
C |
2: 25,145,236 (GRCm39) |
Y43C |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 70,989,764 (GRCm39) |
V1102A |
probably damaging |
Het |
Nmnat3 |
T |
C |
9: 98,292,352 (GRCm39) |
I199T |
possibly damaging |
Het |
Nsun7 |
T |
C |
5: 66,418,557 (GRCm39) |
S96P |
probably damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,326 (GRCm39) |
V149A |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,899,900 (GRCm39) |
|
probably benign |
Het |
Or10v9 |
T |
G |
19: 11,832,371 (GRCm39) |
Q315H |
possibly damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
Or5bw2 |
A |
G |
7: 6,573,557 (GRCm39) |
D189G |
probably benign |
Het |
Or6z7 |
T |
C |
7: 6,483,931 (GRCm39) |
M75V |
probably benign |
Het |
Or8b3 |
T |
C |
9: 38,315,031 (GRCm39) |
L287P |
probably damaging |
Het |
Or8k53 |
A |
T |
2: 86,177,486 (GRCm39) |
I208N |
possibly damaging |
Het |
Pax2 |
G |
A |
19: 44,806,904 (GRCm39) |
D301N |
probably damaging |
Het |
Pcsk4 |
T |
A |
10: 80,161,613 (GRCm39) |
E176V |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,187,284 (GRCm39) |
P3675S |
probably benign |
Het |
Plekho2 |
A |
T |
9: 65,465,974 (GRCm39) |
L138Q |
probably damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
Prr11 |
T |
A |
11: 86,994,116 (GRCm39) |
D100V |
probably damaging |
Het |
Qars1 |
A |
G |
9: 108,392,227 (GRCm39) |
N136D |
probably damaging |
Het |
Rbm15b |
A |
G |
9: 106,758,822 (GRCm39) |
|
probably benign |
Het |
Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
Rsrc1 |
A |
G |
3: 67,257,338 (GRCm39) |
D250G |
probably benign |
Het |
Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
Scn2a |
C |
A |
2: 65,520,514 (GRCm39) |
N503K |
probably damaging |
Het |
Sh2d6 |
G |
A |
6: 72,494,527 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,976,157 (GRCm39) |
T475A |
probably benign |
Het |
Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
Tbx20 |
T |
A |
9: 24,682,209 (GRCm39) |
K48N |
possibly damaging |
Het |
Tead1 |
C |
A |
7: 112,490,952 (GRCm39) |
D231E |
probably benign |
Het |
Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,962,603 (GRCm39) |
F1111L |
probably damaging |
Het |
Tlr11 |
T |
A |
14: 50,599,445 (GRCm39) |
I477K |
possibly damaging |
Het |
Ttc13 |
A |
G |
8: 125,440,926 (GRCm39) |
|
probably null |
Het |
Usp15 |
T |
A |
10: 122,960,946 (GRCm39) |
|
probably benign |
Het |
Usp18 |
A |
G |
6: 121,229,476 (GRCm39) |
K32E |
probably benign |
Het |
Vmn1r12 |
A |
T |
6: 57,136,646 (GRCm39) |
M248L |
probably benign |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp930 |
T |
A |
8: 69,680,824 (GRCm39) |
L172H |
probably damaging |
Het |
Zfp976 |
G |
A |
7: 42,263,046 (GRCm39) |
H264Y |
probably damaging |
Het |
|
Other mutations in Ttc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Ttc17
|
APN |
2 |
94,153,428 (GRCm39) |
splice site |
probably benign |
|
IGL00870:Ttc17
|
APN |
2 |
94,202,078 (GRCm39) |
splice site |
probably null |
|
IGL01120:Ttc17
|
APN |
2 |
94,202,141 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01845:Ttc17
|
APN |
2 |
94,163,177 (GRCm39) |
nonsense |
probably null |
|
IGL01895:Ttc17
|
APN |
2 |
94,205,491 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02064:Ttc17
|
APN |
2 |
94,161,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02296:Ttc17
|
APN |
2 |
94,208,055 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02309:Ttc17
|
APN |
2 |
94,173,006 (GRCm39) |
missense |
probably benign |
|
IGL02456:Ttc17
|
APN |
2 |
94,193,130 (GRCm39) |
splice site |
probably benign |
|
IGL02475:Ttc17
|
APN |
2 |
94,194,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03341:Ttc17
|
APN |
2 |
94,205,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03371:Ttc17
|
APN |
2 |
94,216,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Ttc17
|
UTSW |
2 |
94,208,439 (GRCm39) |
missense |
probably benign |
0.03 |
R0443:Ttc17
|
UTSW |
2 |
94,208,439 (GRCm39) |
missense |
probably benign |
0.03 |
R0511:Ttc17
|
UTSW |
2 |
94,153,465 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0763:Ttc17
|
UTSW |
2 |
94,163,148 (GRCm39) |
missense |
probably benign |
0.08 |
R1980:Ttc17
|
UTSW |
2 |
94,157,049 (GRCm39) |
missense |
probably benign |
0.14 |
R1987:Ttc17
|
UTSW |
2 |
94,194,690 (GRCm39) |
missense |
probably benign |
|
R2064:Ttc17
|
UTSW |
2 |
94,196,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R2147:Ttc17
|
UTSW |
2 |
94,132,139 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2155:Ttc17
|
UTSW |
2 |
94,196,987 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2844:Ttc17
|
UTSW |
2 |
94,206,419 (GRCm39) |
nonsense |
probably null |
|
R3719:Ttc17
|
UTSW |
2 |
94,194,672 (GRCm39) |
missense |
probably benign |
0.27 |
R3852:Ttc17
|
UTSW |
2 |
94,199,758 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3947:Ttc17
|
UTSW |
2 |
94,206,491 (GRCm39) |
splice site |
probably benign |
|
R4411:Ttc17
|
UTSW |
2 |
94,173,098 (GRCm39) |
missense |
probably damaging |
0.97 |
R4461:Ttc17
|
UTSW |
2 |
94,196,916 (GRCm39) |
missense |
probably benign |
0.02 |
R4660:Ttc17
|
UTSW |
2 |
94,194,774 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4762:Ttc17
|
UTSW |
2 |
94,202,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R4818:Ttc17
|
UTSW |
2 |
94,163,236 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4819:Ttc17
|
UTSW |
2 |
94,194,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R4864:Ttc17
|
UTSW |
2 |
94,196,980 (GRCm39) |
missense |
probably benign |
0.01 |
R4870:Ttc17
|
UTSW |
2 |
94,196,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R5203:Ttc17
|
UTSW |
2 |
94,209,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Ttc17
|
UTSW |
2 |
94,133,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Ttc17
|
UTSW |
2 |
94,133,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Ttc17
|
UTSW |
2 |
94,133,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5453:Ttc17
|
UTSW |
2 |
94,133,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Ttc17
|
UTSW |
2 |
94,208,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5683:Ttc17
|
UTSW |
2 |
94,192,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R5921:Ttc17
|
UTSW |
2 |
94,209,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R6272:Ttc17
|
UTSW |
2 |
94,189,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6444:Ttc17
|
UTSW |
2 |
94,133,891 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6748:Ttc17
|
UTSW |
2 |
94,216,447 (GRCm39) |
missense |
probably benign |
0.02 |
R7204:Ttc17
|
UTSW |
2 |
94,192,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7300:Ttc17
|
UTSW |
2 |
94,205,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R7446:Ttc17
|
UTSW |
2 |
94,205,495 (GRCm39) |
missense |
probably damaging |
0.97 |
R7680:Ttc17
|
UTSW |
2 |
94,196,889 (GRCm39) |
missense |
probably benign |
0.06 |
R7912:Ttc17
|
UTSW |
2 |
94,209,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R8083:Ttc17
|
UTSW |
2 |
94,204,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R8304:Ttc17
|
UTSW |
2 |
94,199,526 (GRCm39) |
intron |
probably benign |
|
R8381:Ttc17
|
UTSW |
2 |
94,132,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R8512:Ttc17
|
UTSW |
2 |
94,202,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R8737:Ttc17
|
UTSW |
2 |
94,206,374 (GRCm39) |
critical splice donor site |
probably null |
|
R8850:Ttc17
|
UTSW |
2 |
94,237,003 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8886:Ttc17
|
UTSW |
2 |
94,205,473 (GRCm39) |
missense |
probably benign |
0.19 |
R8888:Ttc17
|
UTSW |
2 |
94,157,049 (GRCm39) |
missense |
probably benign |
0.14 |
R8891:Ttc17
|
UTSW |
2 |
94,192,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R9336:Ttc17
|
UTSW |
2 |
94,189,198 (GRCm39) |
missense |
probably benign |
0.00 |
R9600:Ttc17
|
UTSW |
2 |
94,204,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Ttc17
|
UTSW |
2 |
94,209,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R9642:Ttc17
|
UTSW |
2 |
94,194,735 (GRCm39) |
missense |
probably benign |
0.00 |
R9657:Ttc17
|
UTSW |
2 |
94,237,010 (GRCm39) |
start codon destroyed |
probably benign |
0.02 |
X0013:Ttc17
|
UTSW |
2 |
94,161,015 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Ttc17
|
UTSW |
2 |
94,209,061 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Ttc17
|
UTSW |
2 |
94,154,861 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGACTGACAGCTTGCAATGG -3'
(R):5'- GAAACAACTGCTTAGCTCCCATTC -3'
Sequencing Primer
(F):5'- GCACCTAGAACGGGGTCATTTATC -3'
(R):5'- CCTTTGTACTGTATCCATTCATGAC -3'
|
Posted On |
2014-08-25 |