Incidental Mutation 'R6272:Ttc17'
| ID |
507380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc17
|
| Ensembl Gene |
ENSMUSG00000027194 |
| Gene Name |
tetratricopeptide repeat domain 17 |
| Synonyms |
D2Bwg1005e, 9130020K17Rik |
| MMRRC Submission |
044442-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
R6272 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 94189100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 749
(C749W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055081
AA Change: C176W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: C176W
| 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 damaging
Transcript: ENSMUST00000094801
AA Change: C749W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: C749W
| 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 |
probably damaging
Transcript: ENSMUST00000111237
AA Change: C749W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: C749W
| 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 damaging
Transcript: ENSMUST00000111238
AA Change: C749W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: C749W
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150215
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
| Adgrg3 |
A |
G |
8: 95,762,889 (GRCm39) |
I189V |
noncoding transcript |
Het |
| Ampd1 |
A |
G |
3: 102,992,699 (GRCm39) |
K147R |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,468,415 (GRCm39) |
T561A |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,711 (GRCm39) |
D438E |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,721,238 (GRCm39) |
Q219L |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,509,333 (GRCm39) |
D269E |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,665,825 (GRCm39) |
K72R |
possibly damaging |
Het |
| Dbn1 |
G |
A |
13: 55,622,917 (GRCm39) |
A522V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,122,241 (GRCm39) |
*158R |
probably null |
Het |
| Edrf1 |
C |
T |
7: 133,239,537 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
A |
T |
7: 121,775,869 (GRCm39) |
D408E |
probably benign |
Het |
| F830016B08Rik |
T |
C |
18: 60,433,150 (GRCm39) |
S78P |
probably damaging |
Het |
| Fah |
C |
A |
7: 84,244,753 (GRCm39) |
G137C |
probably damaging |
Het |
| Foxd3 |
A |
G |
4: 99,544,977 (GRCm39) |
D39G |
probably damaging |
Het |
| Gprin3 |
G |
A |
6: 59,330,316 (GRCm39) |
Q664* |
probably null |
Het |
| H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
| H3c6 |
A |
T |
13: 23,746,400 (GRCm39) |
V47E |
probably damaging |
Het |
| Hmgcll1 |
G |
A |
9: 76,037,627 (GRCm39) |
G174R |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
| Kynu |
A |
T |
2: 43,525,001 (GRCm39) |
N315Y |
probably benign |
Het |
| Map1lc3b |
G |
A |
8: 122,323,429 (GRCm39) |
E100K |
probably benign |
Het |
| Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
| Mettl8 |
T |
C |
2: 70,806,419 (GRCm39) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,512,940 (GRCm39) |
N312Y |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,400,253 (GRCm39) |
D493G |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,077,331 (GRCm39) |
E889G |
possibly damaging |
Het |
| Or13l2 |
A |
G |
3: 97,318,207 (GRCm39) |
F97L |
probably benign |
Het |
| Or14c42-ps1 |
A |
G |
7: 86,211,081 (GRCm39) |
Y47C |
unknown |
Het |
| Or2y13 |
C |
A |
11: 49,414,953 (GRCm39) |
S134R |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,948 (GRCm39) |
M211R |
possibly damaging |
Het |
| Or5w20 |
G |
A |
2: 87,727,001 (GRCm39) |
V153I |
probably benign |
Het |
| Or6k2 |
C |
T |
1: 173,986,741 (GRCm39) |
T134I |
probably benign |
Het |
| Or8g4 |
A |
T |
9: 39,661,816 (GRCm39) |
M45L |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,603,440 (GRCm39) |
Y190C |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,820,811 (GRCm39) |
T347A |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,059,053 (GRCm39) |
E3655G |
probably damaging |
Het |
| Plekhg3 |
A |
T |
12: 76,623,619 (GRCm39) |
Q954L |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Prdm4 |
G |
A |
10: 85,743,694 (GRCm39) |
T187I |
possibly damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,517 (GRCm39) |
|
probably benign |
Het |
| Prpf18 |
G |
A |
2: 4,638,258 (GRCm39) |
R312W |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,305,374 (GRCm39) |
V535D |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,791,638 (GRCm39) |
N39K |
probably damaging |
Het |
| Slc4a3 |
G |
A |
1: 75,531,341 (GRCm39) |
|
probably null |
Het |
| Szt2 |
A |
C |
4: 118,231,487 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tfap2e |
A |
T |
4: 126,615,657 (GRCm39) |
V259D |
probably damaging |
Het |
| Trav19 |
A |
G |
14: 54,083,255 (GRCm39) |
D110G |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,948,753 (GRCm39) |
K490E |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,471,590 (GRCm39) |
S99P |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,791,385 (GRCm39) |
R235H |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,242 (GRCm39) |
D554V |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,194 (GRCm39) |
V761E |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,861 (GRCm39) |
I705T |
possibly damaging |
Het |
| Wwox |
G |
A |
8: 115,215,692 (GRCm39) |
C155Y |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,842,325 (GRCm39) |
|
probably benign |
Het |
| Zfp582 |
C |
T |
7: 6,356,844 (GRCm39) |
P219L |
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 |
|
R1981: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 |
|
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'- TACTCCCATGACAAACTCTGG -3'
(R):5'- TTGAGCCTGGGAAATGCTTAC -3'
Sequencing Primer
(F):5'- CTTAGCTAAGGTCTGGAAATCAACG -3'
(R):5'- ACCTTGCTCTGAAGAATGTCAGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation