Incidental Mutation 'R5683:Ttc17'
ID |
443169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc17
|
Ensembl Gene |
ENSMUSG00000027194 |
Gene Name |
tetratricopeptide repeat domain 17 |
Synonyms |
D2Bwg1005e, 9130020K17Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.556)
|
Stock # |
R5683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94192866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 628
(Y628C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092395
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
AlphaFold |
E9PVB5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055081
AA Change: Y55C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061360 Gene: ENSMUSG00000027194 AA Change: Y55C
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: Y628C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092395 Gene: ENSMUSG00000027194 AA Change: Y628C
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: Y628C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106868 Gene: ENSMUSG00000027194 AA Change: Y628C
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: Y628C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106869 Gene: ENSMUSG00000027194 AA Change: Y628C
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
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
Ccdc138 |
C |
A |
10: 58,376,641 (GRCm39) |
Q425K |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,263,179 (GRCm39) |
K143N |
probably benign |
Het |
Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
Chaf1b |
A |
G |
16: 93,684,030 (GRCm39) |
K94E |
possibly damaging |
Het |
Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
Npnt |
A |
T |
3: 132,612,601 (GRCm39) |
|
probably null |
Het |
Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
Pak6 |
T |
A |
2: 118,524,393 (GRCm39) |
Y469N |
probably damaging |
Het |
Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
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 |
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'- CCACCACAGCAATGACTGTG -3'
(R):5'- AGGTAAGTCATTTGTTTGGGACCTC -3'
Sequencing Primer
(F):5'- AGAGCCTTACCTCAGAGCTGTTG -3'
(R):5'- GTCATTTGTTTGGGACCTCTAAAAC -3'
|
Posted On |
2016-11-09 |