Incidental Mutation 'R4818:Ttc17'
| ID |
369973 |
| 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 # |
R4818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 94163236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 862
(Q862K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055081
AA Change: Q289K
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: Q289K
| 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 |
possibly damaging
Transcript: ENSMUST00000094801
AA Change: Q862K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: Q862K
| 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 |
possibly damaging
Transcript: ENSMUST00000111237
AA Change: Q805K
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: Q805K
| 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 |
possibly damaging
Transcript: ENSMUST00000111238
AA Change: Q862K
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: Q862K
| 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 |
|
| Meta Mutation Damage Score |
0.3119 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,571,810 (GRCm39) |
E562G |
probably benign |
Het |
| 5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
| A930033H14Rik |
A |
T |
10: 69,048,190 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,536,135 (GRCm39) |
E511K |
probably damaging |
Het |
| Abca9 |
C |
T |
11: 110,045,980 (GRCm39) |
|
probably null |
Het |
| Abhd5 |
T |
A |
9: 122,192,865 (GRCm39) |
|
probably null |
Het |
| Adra2b |
G |
A |
2: 127,206,012 (GRCm39) |
W171* |
probably null |
Het |
| Ahcyl |
G |
A |
16: 45,974,555 (GRCm39) |
T274I |
probably damaging |
Het |
| Aldh1l1 |
T |
C |
6: 90,573,897 (GRCm39) |
Y799H |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,286,772 (GRCm39) |
V46A |
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,381,639 (GRCm39) |
E374G |
probably damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,250,484 (GRCm39) |
V412I |
probably benign |
Het |
| Arid3c |
T |
C |
4: 41,730,072 (GRCm39) |
E41G |
possibly damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,736 (GRCm39) |
K1193N |
probably benign |
Het |
| C4a |
C |
T |
17: 35,035,975 (GRCm39) |
|
noncoding transcript |
Het |
| Chst2 |
C |
T |
9: 95,287,417 (GRCm39) |
D310N |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,327,170 (GRCm39) |
Q52R |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,874,583 (GRCm39) |
I842V |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,743,511 (GRCm39) |
S1167P |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
| Epha10 |
T |
A |
4: 124,780,007 (GRCm39) |
|
probably null |
Het |
| Epha6 |
C |
A |
16: 59,474,426 (GRCm39) |
R1117L |
probably damaging |
Het |
| Fdx2 |
T |
C |
9: 20,979,160 (GRCm39) |
I144V |
possibly damaging |
Het |
| Gm10762 |
C |
T |
2: 128,809,106 (GRCm39) |
W81* |
probably null |
Het |
| Hus1 |
A |
G |
11: 8,946,808 (GRCm39) |
|
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,803 (GRCm39) |
E214K |
probably benign |
Het |
| Inpp5f |
A |
G |
7: 128,286,853 (GRCm39) |
I577M |
probably damaging |
Het |
| Kansl2 |
G |
A |
15: 98,424,542 (GRCm39) |
T296I |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,387 (GRCm39) |
F501L |
probably benign |
Het |
| Kirrel2 |
A |
T |
7: 30,149,293 (GRCm39) |
V579D |
probably benign |
Het |
| Larp1b |
T |
C |
3: 40,925,005 (GRCm39) |
Y208H |
probably damaging |
Het |
| Lipf |
A |
T |
19: 33,943,088 (GRCm39) |
D132V |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,057,989 (GRCm39) |
K40E |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,027,038 (GRCm39) |
S275P |
probably benign |
Het |
| Mettl25b |
C |
A |
3: 87,832,305 (GRCm39) |
R293L |
probably benign |
Het |
| Mrpl44 |
A |
G |
1: 79,758,694 (GRCm39) |
I281V |
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,698,505 (GRCm39) |
M1K |
probably null |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,067,081 (GRCm39) |
G179R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,531,568 (GRCm39) |
T739A |
possibly damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,835,011 (GRCm39) |
V778I |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,797,690 (GRCm39) |
|
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,889,842 (GRCm39) |
N24S |
probably benign |
Het |
| Obox7 |
T |
A |
7: 14,398,410 (GRCm39) |
L108Q |
probably damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,209,968 (GRCm39) |
F95I |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,108,869 (GRCm39) |
V263A |
probably damaging |
Het |
| Pdlim1 |
C |
T |
19: 40,211,580 (GRCm39) |
V238I |
probably damaging |
Het |
| Pik3ip1 |
G |
A |
11: 3,280,928 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,546,442 (GRCm39) |
V284A |
possibly damaging |
Het |
| Rad9b |
G |
A |
5: 122,477,839 (GRCm39) |
T179I |
probably damaging |
Het |
| Sirt4 |
G |
T |
5: 115,617,785 (GRCm39) |
D290E |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 112,812,589 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
A |
C |
8: 69,492,951 (GRCm39) |
I466S |
probably damaging |
Het |
| Slc35e4 |
C |
T |
11: 3,862,889 (GRCm39) |
R100H |
probably benign |
Het |
| Sptbn5 |
T |
G |
2: 119,898,449 (GRCm39) |
K470Q |
probably benign |
Het |
| Tas1r1 |
C |
G |
4: 152,117,131 (GRCm39) |
V168L |
probably benign |
Het |
| Tmem233 |
T |
A |
5: 116,221,222 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,033,981 (GRCm39) |
C132S |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,962,885 (GRCm39) |
I68T |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,128 (GRCm39) |
V30A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGAGGATTAAGCTGGTGAAC -3'
(R):5'- ATTGCAGGCACAGTGGTTG -3'
Sequencing Primer
(F):5'- AGCACATGTCACTATGCTGG -3'
(R):5'- TTGAAGAGAGCAATGGTTCTGAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation