Incidental Mutation 'IGL02309:Ttc17'
| ID |
287737 |
| 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 # |
IGL02309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 94173006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 796
(N796K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055081
AA Change: N223K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: N223K
| 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
AA Change: N796K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: N796K
| 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 benign
Transcript: ENSMUST00000111237
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
| 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: N796K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N796K
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,193,125 (GRCm39) |
F111S |
probably benign |
Het |
| Afg1l |
C |
A |
10: 42,330,374 (GRCm39) |
V98F |
possibly damaging |
Het |
| Agk |
T |
A |
6: 40,353,210 (GRCm39) |
D191E |
possibly damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,629 (GRCm39) |
K354E |
possibly damaging |
Het |
| Aplp2 |
A |
T |
9: 31,078,979 (GRCm39) |
M323K |
possibly damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,356,827 (GRCm39) |
|
probably benign |
Het |
| Asl |
A |
G |
5: 130,048,622 (GRCm39) |
Y30H |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,655,510 (GRCm39) |
H1173Q |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,327 (GRCm39) |
R2472H |
probably damaging |
Het |
| Clip1 |
T |
A |
5: 123,755,763 (GRCm39) |
H950L |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,660 (GRCm39) |
T222S |
probably benign |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,829 (GRCm39) |
N273Y |
probably damaging |
Het |
| Ddx52 |
T |
A |
11: 83,839,304 (GRCm39) |
S214T |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,284 (GRCm39) |
M318K |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,790,351 (GRCm39) |
D1E |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,480,928 (GRCm39) |
T443I |
probably benign |
Het |
| Gm2381 |
C |
T |
7: 42,472,033 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,086,975 (GRCm39) |
I178F |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,713,470 (GRCm39) |
E804K |
probably damaging |
Het |
| Gtf2h1 |
T |
C |
7: 46,465,812 (GRCm39) |
L421P |
probably damaging |
Het |
| Haghl |
T |
G |
17: 26,003,638 (GRCm39) |
H56P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,893,700 (GRCm39) |
L489P |
probably damaging |
Het |
| Ighv6-6 |
A |
T |
12: 114,398,534 (GRCm39) |
H77Q |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,085,883 (GRCm39) |
S243P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,804,616 (GRCm39) |
|
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,880 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
T |
C |
2: 26,091,385 (GRCm39) |
Q308R |
probably benign |
Het |
| Lonp2 |
G |
A |
8: 87,361,491 (GRCm39) |
E223K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,310,352 (GRCm39) |
F407L |
probably damaging |
Het |
| Mndal |
C |
T |
1: 173,702,021 (GRCm39) |
G94R |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,943,175 (GRCm39) |
N101S |
probably damaging |
Het |
| Or14c41 |
T |
C |
7: 86,234,705 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or51af1 |
A |
T |
7: 103,141,206 (GRCm39) |
I293K |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Or8b48 |
A |
G |
9: 38,492,729 (GRCm39) |
N52S |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,842,348 (GRCm39) |
N294D |
probably damaging |
Het |
| Pknox1 |
T |
G |
17: 31,809,683 (GRCm39) |
F96V |
probably benign |
Het |
| Psg25 |
T |
G |
7: 18,260,349 (GRCm39) |
Q183P |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,981,307 (GRCm39) |
Y530C |
probably damaging |
Het |
| Sema3e |
T |
A |
5: 14,274,404 (GRCm39) |
D218E |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,266 (GRCm39) |
G46R |
unknown |
Het |
| Sidt1 |
T |
C |
16: 44,075,343 (GRCm39) |
I672V |
probably benign |
Het |
| Skic3 |
A |
G |
13: 76,275,166 (GRCm39) |
T238A |
possibly damaging |
Het |
| Slco1b2 |
T |
A |
6: 141,618,007 (GRCm39) |
S486T |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,750,898 (GRCm39) |
H340R |
probably benign |
Het |
| Smoc2 |
C |
A |
17: 14,595,789 (GRCm39) |
|
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,801 (GRCm39) |
Y102C |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,821,744 (GRCm39) |
R20G |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,466 (GRCm39) |
|
noncoding transcript |
Het |
| Trim12c |
T |
A |
7: 103,994,163 (GRCm39) |
E230D |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,709,443 (GRCm39) |
|
probably benign |
Het |
| Ublcp1 |
A |
T |
11: 44,349,155 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,021,026 (GRCm39) |
T11M |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,113 (GRCm39) |
M95K |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,466,820 (GRCm39) |
T1160A |
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 |
|
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 |
2015-04-16 |
Incidental Mutation