Incidental Mutation 'R6748:Ttc17'
ID |
530630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc17
|
Ensembl Gene |
ENSMUSG00000027194 |
Gene Name |
tetratricopeptide repeat domain 17 |
Synonyms |
D2Bwg1005e, 9130020K17Rik |
MMRRC Submission |
044865-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.619)
|
Stock # |
R6748 (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 94216447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 80
(K80R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
AlphaFold |
E9PVB5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094801
AA Change: K80R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000092395 Gene: ENSMUSG00000027194 AA Change: K80R
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: K80R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000106868 Gene: ENSMUSG00000027194 AA Change: K80R
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: K80R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000106869 Gene: ENSMUSG00000027194 AA Change: K80R
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: ENSMUST00000117207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150266
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
C |
A |
1: 38,574,327 (GRCm39) |
R178I |
probably damaging |
Het |
Agr3 |
A |
G |
12: 35,997,594 (GRCm39) |
|
probably null |
Het |
Aoc1 |
C |
T |
6: 48,883,228 (GRCm39) |
T368I |
possibly damaging |
Het |
Aph1c |
A |
G |
9: 66,740,577 (GRCm39) |
S50P |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,232,378 (GRCm39) |
E341G |
possibly damaging |
Het |
Atp8b3 |
A |
T |
10: 80,361,058 (GRCm39) |
M926K |
possibly damaging |
Het |
C1qtnf9 |
A |
G |
14: 61,017,276 (GRCm39) |
N269D |
probably damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,261,273 (GRCm39) |
|
probably benign |
Het |
Clec4a1 |
T |
C |
6: 122,910,856 (GRCm39) |
I237T |
possibly damaging |
Het |
Clpx |
A |
G |
9: 65,217,441 (GRCm39) |
N3S |
probably benign |
Het |
Col19a1 |
A |
G |
1: 24,573,151 (GRCm39) |
I207T |
unknown |
Het |
Cyp2j8 |
T |
A |
4: 96,363,782 (GRCm39) |
T294S |
probably benign |
Het |
Dnah1 |
A |
G |
14: 31,021,945 (GRCm39) |
I1186T |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,369,844 (GRCm39) |
V4423G |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,754,465 (GRCm39) |
I485F |
probably benign |
Het |
Drd2 |
T |
A |
9: 49,314,502 (GRCm39) |
C244* |
probably null |
Het |
Frmpd1 |
T |
A |
4: 45,274,397 (GRCm39) |
I435K |
probably benign |
Het |
Fzd5 |
A |
G |
1: 64,774,723 (GRCm39) |
M346T |
possibly damaging |
Het |
Gc |
T |
C |
5: 89,583,431 (GRCm39) |
T371A |
probably benign |
Het |
Gm12185 |
T |
A |
11: 48,807,123 (GRCm39) |
T23S |
possibly damaging |
Het |
Hbq1a |
A |
G |
11: 32,250,169 (GRCm39) |
|
probably null |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Il1rap |
A |
T |
16: 26,541,106 (GRCm39) |
N449I |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,719,667 (GRCm39) |
D279E |
probably damaging |
Het |
Mat2b |
T |
A |
11: 40,571,021 (GRCm39) |
I268F |
probably benign |
Het |
Mtor |
T |
C |
4: 148,634,641 (GRCm39) |
F2421L |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
Nkx2-6 |
A |
G |
14: 69,412,555 (GRCm39) |
D241G |
probably benign |
Het |
Or4f14 |
T |
A |
2: 111,742,702 (GRCm39) |
N191I |
possibly damaging |
Het |
Or5h23 |
T |
A |
16: 58,906,253 (GRCm39) |
M198L |
probably benign |
Het |
Pcdhb22 |
A |
C |
18: 37,651,799 (GRCm39) |
D89A |
probably damaging |
Het |
Pcnx2 |
C |
T |
8: 126,577,074 (GRCm39) |
R986Q |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,476,490 (GRCm39) |
|
probably null |
Het |
Ppwd1 |
A |
T |
13: 104,344,538 (GRCm39) |
Y527* |
probably null |
Het |
Pramel35 |
T |
C |
5: 94,000,072 (GRCm39) |
W38R |
probably benign |
Het |
Rnf126 |
A |
G |
10: 79,597,970 (GRCm39) |
L131P |
probably benign |
Het |
Rsl1 |
T |
A |
13: 67,330,688 (GRCm39) |
C379S |
probably benign |
Het |
Sec23b |
A |
G |
2: 144,408,714 (GRCm39) |
Y133C |
probably damaging |
Het |
Slc25a24 |
T |
A |
3: 109,056,823 (GRCm39) |
V112D |
possibly damaging |
Het |
Slc35f3 |
A |
T |
8: 127,121,377 (GRCm39) |
R413* |
probably null |
Het |
Tas1r2 |
T |
C |
4: 139,396,922 (GRCm39) |
F754L |
probably damaging |
Het |
Tbc1d14 |
A |
G |
5: 36,652,598 (GRCm39) |
S615P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,428 (GRCm39) |
T24822A |
possibly damaging |
Het |
Vmn1r222 |
C |
A |
13: 23,417,117 (GRCm39) |
R32L |
probably benign |
Het |
Zfp354b |
G |
A |
11: 50,813,659 (GRCm39) |
T422M |
probably damaging |
Het |
Zfp407 |
G |
A |
18: 84,226,955 (GRCm39) |
T2218M |
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 |
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'- ACTCCAGGGCACTTCCTTTG -3'
(R):5'- CTAGAATGGTGATGGGCTAGC -3'
Sequencing Primer
(F):5'- GCACTTCCTTTGGTGGAGAG -3'
(R):5'- TGATGGGCTAGCAATTGAAATC -3'
|
Posted On |
2018-08-01 |