Incidental Mutation 'R7204:Ttc17'
ID |
560418 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc17
|
Ensembl Gene |
ENSMUSG00000027194 |
Gene Name |
tetratricopeptide repeat domain 17 |
Synonyms |
D2Bwg1005e, 9130020K17Rik |
MMRRC Submission |
045282-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.619)
|
Stock # |
R7204 (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 T
at 94192773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 86
(V86D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
AlphaFold |
E9PVB5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055081
AA Change: V86D
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000061360 Gene: ENSMUSG00000027194 AA Change: V86D
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: V659D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092395 Gene: ENSMUSG00000027194 AA Change: V659D
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: V659D
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106868 Gene: ENSMUSG00000027194 AA Change: V659D
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 |
possibly damaging
Transcript: ENSMUST00000111238
AA Change: V659D
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106869 Gene: ENSMUSG00000027194 AA Change: V659D
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 |
0.7136 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
T |
C |
8: 84,730,636 (GRCm39) |
S227P |
probably damaging |
Het |
Acot6 |
A |
G |
12: 84,153,301 (GRCm39) |
H181R |
probably benign |
Het |
Adam15 |
A |
T |
3: 89,254,244 (GRCm39) |
H184Q |
probably benign |
Het |
Agl |
A |
G |
3: 116,587,469 (GRCm39) |
F29L |
probably benign |
Het |
Ak7 |
A |
G |
12: 105,708,502 (GRCm39) |
Y319C |
probably benign |
Het |
Ano8 |
C |
A |
8: 71,931,669 (GRCm39) |
V813L |
probably benign |
Het |
Apbb2 |
T |
G |
5: 66,608,946 (GRCm39) |
K234Q |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,522,210 (GRCm39) |
D605E |
probably damaging |
Het |
Bfsp2 |
C |
A |
9: 103,309,865 (GRCm39) |
R340L |
probably damaging |
Het |
Birc6 |
C |
A |
17: 74,947,103 (GRCm39) |
P2956T |
probably damaging |
Het |
C1rb |
T |
C |
6: 124,554,386 (GRCm39) |
I389T |
probably benign |
Het |
Ccdc146 |
A |
G |
5: 21,513,624 (GRCm39) |
F498S |
probably benign |
Het |
Cdc14b |
A |
C |
13: 64,358,012 (GRCm39) |
V361G |
possibly damaging |
Het |
Cdc25b |
A |
T |
2: 131,033,552 (GRCm39) |
I164F |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,921,110 (GRCm39) |
S297P |
unknown |
Het |
Col3a1 |
A |
T |
1: 45,361,578 (GRCm39) |
I117F |
unknown |
Het |
Cox4i2 |
AG |
A |
2: 152,602,618 (GRCm39) |
|
probably null |
Het |
Crybg3 |
C |
A |
16: 59,379,253 (GRCm39) |
G667V |
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,920,567 (GRCm39) |
D623G |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,929,215 (GRCm39) |
H152Q |
probably damaging |
Het |
Dgke |
G |
A |
11: 88,932,306 (GRCm39) |
P495S |
probably damaging |
Het |
Dll3 |
A |
T |
7: 27,998,330 (GRCm39) |
C212S |
possibly damaging |
Het |
Dll4 |
A |
T |
2: 119,159,054 (GRCm39) |
S235C |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
T |
14: 26,503,442 (GRCm39) |
T1599S |
probably damaging |
Het |
Elavl1 |
G |
A |
8: 4,361,712 (GRCm39) |
T20M |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,472,695 (GRCm39) |
T397A |
probably benign |
Het |
Fanca |
A |
T |
8: 124,013,216 (GRCm39) |
I859N |
probably damaging |
Het |
Fzd1 |
A |
T |
5: 4,805,980 (GRCm39) |
V534D |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,233,917 (GRCm39) |
Y258C |
probably damaging |
Het |
Gm9195 |
G |
A |
14: 72,711,626 (GRCm39) |
P329S |
probably damaging |
Het |
Gpt |
A |
G |
15: 76,583,199 (GRCm39) |
R379G |
probably benign |
Het |
Gsdmc2 |
T |
C |
15: 63,696,903 (GRCm39) |
T423A |
probably damaging |
Het |
Hemgn |
T |
C |
4: 46,397,054 (GRCm39) |
K61E |
possibly damaging |
Het |
Ikzf4 |
A |
T |
10: 128,479,759 (GRCm39) |
S56T |
possibly damaging |
Het |
Jak1 |
T |
C |
4: 101,032,332 (GRCm39) |
T425A |
probably benign |
Het |
Jsrp1 |
T |
C |
10: 80,646,319 (GRCm39) |
T80A |
probably benign |
Het |
Klra9 |
T |
A |
6: 130,165,643 (GRCm39) |
D124V |
possibly damaging |
Het |
Lama5 |
A |
T |
2: 179,843,970 (GRCm39) |
V397D |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,302,877 (GRCm39) |
S2951P |
probably benign |
Het |
Map7d1 |
A |
G |
4: 126,149,808 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
T |
1: 128,265,864 (GRCm39) |
C636S |
probably damaging |
Het |
Mia |
T |
C |
7: 26,880,358 (GRCm39) |
E39G |
possibly damaging |
Het |
Mpeg1 |
T |
A |
19: 12,440,258 (GRCm39) |
I572N |
probably damaging |
Het |
Muc21 |
AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC |
AGCTGGATACAGTGGTGGTC |
17: 35,932,105 (GRCm39) |
|
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Mup5 |
A |
G |
4: 61,751,992 (GRCm39) |
Y86H |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 125,954,104 (GRCm39) |
V816D |
probably benign |
Het |
Nfib |
T |
C |
4: 82,215,052 (GRCm39) |
|
probably null |
Het |
Nlrc5 |
T |
A |
8: 95,218,153 (GRCm39) |
V1056D |
possibly damaging |
Het |
Nynrin |
G |
C |
14: 56,110,190 (GRCm39) |
E1766Q |
probably damaging |
Het |
Or7d9 |
A |
T |
9: 20,197,100 (GRCm39) |
Y43F |
probably benign |
Het |
Oxct1 |
T |
A |
15: 4,123,524 (GRCm39) |
L328Q |
probably damaging |
Het |
Pax5 |
T |
A |
4: 44,679,485 (GRCm39) |
I187F |
possibly damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,442,292 (GRCm39) |
D534V |
probably damaging |
Het |
Pebp4 |
C |
T |
14: 70,085,046 (GRCm39) |
P35S |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,386,949 (GRCm39) |
V1274E |
possibly damaging |
Het |
Plcz1 |
A |
T |
6: 139,956,150 (GRCm39) |
V373D |
probably benign |
Het |
Plxnb1 |
C |
T |
9: 108,929,243 (GRCm39) |
T33I |
probably damaging |
Het |
Prag1 |
T |
C |
8: 36,613,915 (GRCm39) |
C1156R |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Rbp4 |
G |
A |
19: 38,112,551 (GRCm39) |
T138I |
possibly damaging |
Het |
Semp2l2b |
A |
G |
10: 21,943,785 (GRCm39) |
L65P |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,042,542 (GRCm39) |
N733Y |
possibly damaging |
Het |
Slc27a3 |
A |
G |
3: 90,297,033 (GRCm39) |
V22A |
probably benign |
Het |
Tcaf1 |
T |
C |
6: 42,651,973 (GRCm39) |
|
probably null |
Het |
Tnc |
T |
C |
4: 63,889,392 (GRCm39) |
|
probably null |
Het |
Tspan31 |
A |
T |
10: 126,903,987 (GRCm39) |
*211R |
probably null |
Het |
Ubr1 |
T |
A |
2: 120,734,558 (GRCm39) |
N1114I |
possibly damaging |
Het |
Ulk2 |
C |
T |
11: 61,674,457 (GRCm39) |
G850R |
probably benign |
Het |
Vmn1r13 |
T |
A |
6: 57,187,141 (GRCm39) |
I100N |
probably benign |
Het |
Zan |
T |
C |
5: 137,426,240 (GRCm39) |
D2512G |
unknown |
Het |
Zc3h14 |
A |
T |
12: 98,737,615 (GRCm39) |
N34I |
probably damaging |
Het |
Zcwpw1 |
T |
G |
5: 137,810,346 (GRCm39) |
L374R |
probably damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,983,518 (GRCm39) |
I528K |
possibly 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 |
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 |
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'- TCCTAGACAGACTCAAAGCTTACTG -3'
(R):5'- GGGACCTCTAAAACTTAAATCCTTC -3'
Sequencing Primer
(F):5'- GACTCAAAGCTTACTGTACAGTCAAG -3'
(R):5'- TAGGACCAGCACTCTACTTTATAC -3'
|
Posted On |
2019-06-26 |