Incidental Mutation 'R9642:Ttc17'
ID |
726046 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc17
|
Ensembl Gene |
ENSMUSG00000027194 |
Gene Name |
tetratricopeptide repeat domain 17 |
Synonyms |
D2Bwg1005e, 9130020K17Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.556)
|
Stock # |
R9642 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94194735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 546
(E546G)
|
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
|
SMART Domains |
Protein: ENSMUSP00000061360 Gene: ENSMUSG00000027194
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: E546G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000092395 Gene: ENSMUSG00000027194 AA Change: E546G
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
AA Change: E546G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000106868 Gene: ENSMUSG00000027194 AA Change: E546G
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: E546G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106869 Gene: ENSMUSG00000027194 AA Change: E546G
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,619,412 (GRCm39) |
|
probably null |
Het |
Aadacl3 |
A |
G |
4: 144,182,512 (GRCm39) |
S319P |
probably benign |
Het |
Abcc6 |
C |
A |
7: 45,639,765 (GRCm39) |
D907Y |
probably benign |
Het |
Apol7b |
T |
C |
15: 77,308,103 (GRCm39) |
S131G |
probably benign |
Het |
Atg2a |
C |
T |
19: 6,300,198 (GRCm39) |
R669* |
probably null |
Het |
Atr |
T |
A |
9: 95,821,294 (GRCm39) |
I2260N |
probably damaging |
Het |
Bmper |
T |
A |
9: 23,395,198 (GRCm39) |
V643E |
probably benign |
Het |
Cacna2d2 |
A |
G |
9: 107,392,627 (GRCm39) |
I524V |
possibly damaging |
Het |
Ccdc171 |
C |
A |
4: 83,599,525 (GRCm39) |
A780E |
probably benign |
Het |
Cdcp3 |
C |
A |
7: 130,848,257 (GRCm39) |
Q688K |
probably benign |
Het |
Cfhr2 |
A |
G |
1: 139,738,620 (GRCm39) |
S314P |
probably damaging |
Het |
Cops2 |
A |
T |
2: 125,682,410 (GRCm39) |
D190E |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,013,825 (GRCm39) |
G1538R |
probably damaging |
Het |
Dyrk4 |
A |
T |
6: 126,893,253 (GRCm39) |
V43E |
probably benign |
Het |
Eif4a3l2 |
A |
G |
6: 116,528,350 (GRCm39) |
R76G |
probably damaging |
Het |
Enoph1 |
T |
C |
5: 100,188,115 (GRCm39) |
I13T |
possibly damaging |
Het |
Eya3 |
A |
T |
4: 132,426,374 (GRCm39) |
I268F |
probably damaging |
Het |
Ezh2 |
A |
C |
6: 47,521,453 (GRCm39) |
M439R |
probably benign |
Het |
Fam83c |
T |
C |
2: 155,672,980 (GRCm39) |
N259S |
probably damaging |
Het |
Gbf1 |
A |
T |
19: 46,258,707 (GRCm39) |
M963L |
probably benign |
Het |
Ghr |
A |
T |
15: 3,355,469 (GRCm39) |
D271E |
probably benign |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gtse1 |
T |
A |
15: 85,751,697 (GRCm39) |
L297I |
probably damaging |
Het |
Hecw1 |
T |
A |
13: 14,515,394 (GRCm39) |
H246L |
probably damaging |
Het |
Hmox1 |
G |
A |
8: 75,823,881 (GRCm39) |
R183H |
possibly damaging |
Het |
Ifi202b |
A |
T |
1: 173,799,850 (GRCm39) |
Y210* |
probably null |
Het |
Ighv1-76 |
A |
T |
12: 115,811,918 (GRCm39) |
I6N |
possibly damaging |
Het |
Ildr1 |
T |
A |
16: 36,536,490 (GRCm39) |
I173N |
probably damaging |
Het |
Jaml |
T |
C |
9: 45,000,116 (GRCm39) |
V138A |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,283,340 (GRCm39) |
|
probably null |
Het |
Krt87 |
T |
C |
15: 101,385,074 (GRCm39) |
N341D |
probably benign |
Het |
Map3k20 |
T |
C |
2: 72,272,181 (GRCm39) |
W770R |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,170,966 (GRCm39) |
I667T |
probably damaging |
Het |
Mdp1 |
T |
C |
14: 55,896,933 (GRCm39) |
T71A |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,349,601 (GRCm39) |
T505S |
possibly damaging |
Het |
Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,772,335 (GRCm39) |
E83G |
possibly damaging |
Het |
Ncam2 |
A |
T |
16: 81,418,251 (GRCm39) |
I769L |
probably benign |
Het |
Notum |
T |
C |
11: 120,550,980 (GRCm39) |
D62G |
probably damaging |
Het |
Or4c124 |
A |
T |
2: 89,155,907 (GRCm39) |
C206S |
possibly damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,610 (GRCm39) |
H53Q |
possibly damaging |
Het |
Or7a39 |
C |
T |
10: 78,715,395 (GRCm39) |
P130S |
probably damaging |
Het |
Or8g32 |
T |
C |
9: 39,305,857 (GRCm39) |
S254P |
probably damaging |
Het |
P2rx2 |
A |
G |
5: 110,489,878 (GRCm39) |
S196P |
possibly damaging |
Het |
Pcdh7 |
A |
T |
5: 57,876,717 (GRCm39) |
I91F |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,167,205 (GRCm39) |
V241A |
probably benign |
Het |
Ppl |
C |
A |
16: 4,915,602 (GRCm39) |
R623S |
probably benign |
Het |
Prkaca |
A |
G |
8: 84,717,088 (GRCm39) |
I151V |
probably benign |
Het |
Psmb11 |
A |
T |
14: 54,863,295 (GRCm39) |
Q171L |
probably benign |
Het |
Rab3gap2 |
T |
G |
1: 184,967,692 (GRCm39) |
F166V |
probably benign |
Het |
Rab7 |
G |
A |
6: 87,981,187 (GRCm39) |
A165V |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,318,907 (GRCm39) |
Y2473H |
probably damaging |
Het |
Runx3 |
A |
G |
4: 134,848,341 (GRCm39) |
|
probably benign |
Het |
Sh3bp5l |
T |
A |
11: 58,237,085 (GRCm39) |
C347* |
probably null |
Het |
Smc5 |
A |
G |
19: 23,238,752 (GRCm39) |
M208T |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
Tas2r136 |
A |
T |
6: 132,754,462 (GRCm39) |
C222S |
probably benign |
Het |
Themis2 |
A |
G |
4: 132,513,047 (GRCm39) |
V393A |
possibly damaging |
Het |
Tln2 |
A |
C |
9: 67,157,826 (GRCm39) |
V1171G |
probably benign |
Het |
Tmem63a |
T |
C |
1: 180,776,393 (GRCm39) |
F68L |
probably damaging |
Het |
Tpst1 |
T |
A |
5: 130,130,959 (GRCm39) |
L143Q |
probably damaging |
Het |
Trp63 |
C |
A |
16: 25,682,508 (GRCm39) |
Q284K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,804,570 (GRCm39) |
I234T |
unknown |
Het |
Upp1 |
A |
G |
11: 9,085,206 (GRCm39) |
K231R |
probably benign |
Het |
Uso1 |
T |
A |
5: 92,285,967 (GRCm39) |
L4H |
probably damaging |
Het |
Vmn1r9 |
T |
A |
6: 57,048,216 (GRCm39) |
L97Q |
probably damaging |
Het |
Vmn2r107 |
T |
C |
17: 20,580,661 (GRCm39) |
C533R |
probably damaging |
Het |
Vps35l |
C |
A |
7: 118,437,451 (GRCm39) |
D909E |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,072,694 (GRCm39) |
|
probably null |
Het |
Ydjc |
A |
G |
16: 16,966,073 (GRCm39) |
H219R |
probably benign |
Het |
Ykt6 |
T |
C |
11: 5,905,917 (GRCm39) |
L6P |
probably damaging |
Het |
Zfp236 |
A |
G |
18: 82,622,384 (GRCm39) |
V1682A |
probably benign |
Het |
Zfp35 |
C |
T |
18: 24,137,155 (GRCm39) |
Q500* |
probably null |
Het |
Zfp780b |
T |
A |
7: 27,664,135 (GRCm39) |
D140V |
probably benign |
Het |
Zyg11b |
T |
C |
4: 108,117,185 (GRCm39) |
T352A |
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 |
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 |
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'- AAGTCACCCAGAATGGACGG -3'
(R):5'- AGAATTGCCAACATACTTTCTGCC -3'
Sequencing Primer
(F):5'- CGGCAAGAAAGAGCAGCC -3'
(R):5'- TTTCTGCCTCCGGAGAACAAAGG -3'
|
Posted On |
2022-09-12 |