Incidental Mutation 'IGL01845:Ttc17'
| ID |
178187 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01845
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 94163177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 881
(Y881*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055081
AA Change: Y308*
|
| SMART Domains |
Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: Y308*
| 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 null
Transcript: ENSMUST00000094801
AA Change: Y881*
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: Y881*
| 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 null
Transcript: ENSMUST00000111237
AA Change: Y824*
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: Y824*
| 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 null
Transcript: ENSMUST00000111238
AA Change: Y881*
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: Y881*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
C |
17: 15,164,380 (GRCm39) |
L169P |
probably damaging |
Het |
| 4933405L10Rik |
C |
A |
8: 106,435,567 (GRCm39) |
A75E |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,090,297 (GRCm39) |
L384P |
probably damaging |
Het |
| Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
| Acp6 |
A |
G |
3: 97,081,123 (GRCm39) |
S288G |
probably benign |
Het |
| Arhgef12 |
T |
A |
9: 42,934,137 (GRCm39) |
H127L |
possibly damaging |
Het |
| Arid2 |
T |
G |
15: 96,254,678 (GRCm39) |
F175V |
probably damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,226,532 (GRCm39) |
Q468* |
probably null |
Het |
| Ccdc93 |
T |
C |
1: 121,390,859 (GRCm39) |
I277T |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,825,586 (GRCm39) |
|
probably benign |
Het |
| Cdipt |
T |
C |
7: 126,578,725 (GRCm39) |
S145P |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,719,610 (GRCm39) |
N268S |
possibly damaging |
Het |
| Clcn3 |
A |
T |
8: 61,366,129 (GRCm39) |
N814K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,724,293 (GRCm39) |
D2019G |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,511,282 (GRCm39) |
G432C |
probably damaging |
Het |
| Crppa |
A |
G |
12: 36,597,918 (GRCm39) |
R350G |
probably benign |
Het |
| Cyld |
C |
T |
8: 89,432,403 (GRCm39) |
Q134* |
probably null |
Het |
| Dhh |
C |
A |
15: 98,795,864 (GRCm39) |
R97L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,449,315 (GRCm39) |
V4239A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,692 (GRCm39) |
I296V |
probably benign |
Het |
| Gabbr1 |
T |
C |
17: 37,359,306 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,815 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
A |
7: 127,711,644 (GRCm39) |
L753Q |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,590,922 (GRCm39) |
V430A |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,017,656 (GRCm39) |
V470A |
possibly damaging |
Het |
| Larp1b |
A |
T |
3: 40,924,960 (GRCm39) |
T146S |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 111,028,728 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,418 (GRCm39) |
C137S |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,657,455 (GRCm39) |
Y393C |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,751 (GRCm39) |
M217K |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,696,191 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,083,860 (GRCm39) |
E1546G |
probably benign |
Het |
| Nlgn2 |
A |
G |
11: 69,716,675 (GRCm39) |
L622P |
possibly damaging |
Het |
| Oga |
T |
A |
19: 45,756,301 (GRCm39) |
E447D |
probably benign |
Het |
| Or10q3 |
A |
G |
19: 11,847,888 (GRCm39) |
S231P |
probably benign |
Het |
| Or1e33 |
A |
G |
11: 73,738,298 (GRCm39) |
Y218H |
probably damaging |
Het |
| Or1j11 |
A |
C |
2: 36,312,105 (GRCm39) |
K232Q |
probably benign |
Het |
| Or56b1b |
T |
A |
7: 108,164,343 (GRCm39) |
I220L |
possibly damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,929 (GRCm39) |
M2V |
probably benign |
Het |
| Phf20 |
C |
A |
2: 156,118,577 (GRCm39) |
S427* |
probably null |
Het |
| Pirt |
G |
A |
11: 66,816,794 (GRCm39) |
S35N |
probably damaging |
Het |
| Prss28 |
C |
A |
17: 25,529,011 (GRCm39) |
N117K |
possibly damaging |
Het |
| Rbbp8nl |
A |
G |
2: 179,925,104 (GRCm39) |
C34R |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Sema5a |
T |
C |
15: 32,474,514 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
T |
A |
5: 34,713,347 (GRCm39) |
L196Q |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,685,256 (GRCm39) |
D325Y |
probably damaging |
Het |
| Slc4a1 |
A |
G |
11: 102,244,729 (GRCm39) |
V622A |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,249,016 (GRCm39) |
V284A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,251,733 (GRCm39) |
F609L |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,695,576 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,612,488 (GRCm39) |
T1254S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,640,347 (GRCm39) |
D13754N |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,511,762 (GRCm39) |
F656L |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,382,709 (GRCm39) |
I478V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,379,116 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,737,414 (GRCm39) |
D258V |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation