Incidental Mutation 'R7680:Ttc17'
| ID |
592680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc17
|
| Ensembl Gene |
ENSMUSG00000027194 |
| Gene Name |
tetratricopeptide repeat domain 17 |
| Synonyms |
D2Bwg1005e, 9130020K17Rik |
| MMRRC Submission |
045746-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.556)
|
| Stock # |
R7680 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94196889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 486
(G486D)
|
| 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: G486D
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: G486D
| 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: G486D
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: G486D
| 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: G486D
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: G486D
| 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: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510002D24Rik |
A |
G |
16: 18,657,958 (GRCm39) |
D104G |
possibly damaging |
Het |
| Ahi1 |
G |
T |
10: 20,883,667 (GRCm39) |
C844F |
possibly damaging |
Het |
| Bspry |
T |
C |
4: 62,414,828 (GRCm39) |
*474Q |
probably null |
Het |
| Car9 |
T |
A |
4: 43,507,250 (GRCm39) |
D65E |
probably damaging |
Het |
| Ccdc110 |
T |
A |
8: 46,394,688 (GRCm39) |
M193K |
possibly damaging |
Het |
| Ccdc166 |
A |
G |
15: 75,853,056 (GRCm39) |
S304P |
possibly damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,012,584 (GRCm39) |
Q321R |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,856 (GRCm39) |
V2255A |
probably damaging |
Het |
| Cmc2 |
A |
T |
8: 117,620,849 (GRCm39) |
M44K |
probably damaging |
Het |
| Crls1 |
A |
G |
2: 132,704,258 (GRCm39) |
T223A |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,323,329 (GRCm39) |
H488L |
probably benign |
Het |
| Cyp2r1 |
A |
T |
7: 114,152,054 (GRCm39) |
I301N |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,718,570 (GRCm39) |
L272Q |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,513,365 (GRCm39) |
N1906S |
probably benign |
Het |
| Gm13271 |
T |
C |
4: 88,673,367 (GRCm39) |
V88A |
probably benign |
Het |
| Gphn |
C |
A |
12: 78,459,148 (GRCm39) |
L79I |
probably benign |
Het |
| Gpr15 |
A |
T |
16: 58,538,328 (GRCm39) |
W254R |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,916 (GRCm39) |
R103G |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,954 (GRCm39) |
S1172P |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,539 (GRCm39) |
S260G |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,901 (GRCm39) |
E34G |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,075,607 (GRCm39) |
|
probably null |
Het |
| Lamp1 |
T |
C |
8: 13,217,812 (GRCm39) |
Y131H |
probably benign |
Het |
| Lrrc47 |
A |
C |
4: 154,100,558 (GRCm39) |
N378T |
probably benign |
Het |
| Manea |
A |
T |
4: 26,340,649 (GRCm39) |
H104Q |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,889,305 (GRCm39) |
I888T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,613,207 (GRCm39) |
M557T |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Myh6 |
C |
A |
14: 55,186,190 (GRCm39) |
C1413F |
possibly damaging |
Het |
| Myorg |
C |
A |
4: 41,497,978 (GRCm39) |
D551Y |
probably damaging |
Het |
| Ncr1 |
T |
A |
7: 4,341,123 (GRCm39) |
M38K |
possibly damaging |
Het |
| Nid2 |
A |
G |
14: 19,829,715 (GRCm39) |
T669A |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,837 (GRCm39) |
I172F |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,763,511 (GRCm39) |
Y364H |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,571 (GRCm39) |
Y142* |
probably null |
Het |
| Ptprn |
T |
C |
1: 75,224,537 (GRCm39) |
I940V |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,370,382 (GRCm39) |
V4728A |
|
Het |
| Samd9l |
A |
T |
6: 3,372,569 (GRCm39) |
L1564Q |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,469 (GRCm39) |
I264T |
probably damaging |
Het |
| Slc16a7 |
T |
C |
10: 125,066,805 (GRCm39) |
D278G |
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,715,396 (GRCm39) |
V214E |
probably damaging |
Het |
| Slc7a5 |
A |
C |
8: 122,634,006 (GRCm39) |
S114A |
probably damaging |
Het |
| St6galnac3 |
A |
G |
3: 152,911,047 (GRCm39) |
S305P |
probably damaging |
Het |
| Stat1 |
G |
A |
1: 52,183,368 (GRCm39) |
R378Q |
probably damaging |
Het |
| Tnfrsf9 |
T |
G |
4: 151,014,395 (GRCm39) |
C31W |
probably damaging |
Het |
| Tnk1 |
T |
C |
11: 69,747,571 (GRCm39) |
E61G |
possibly damaging |
Het |
| Tnks1bp1 |
T |
A |
2: 84,889,585 (GRCm39) |
D637E |
probably benign |
Het |
| Vmn1r30 |
T |
A |
6: 58,412,284 (GRCm39) |
R183* |
probably null |
Het |
| Vmn2r78 |
A |
G |
7: 86,604,149 (GRCm39) |
T776A |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,079 (GRCm39) |
E444G |
probably benign |
Het |
| Zc3h13 |
C |
T |
14: 75,567,955 (GRCm39) |
R1083C |
probably damaging |
Het |
| Zfp189 |
A |
G |
4: 49,521,547 (GRCm39) |
|
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 |
|
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 |
|
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'- CTGTCCCAGTTGACTGTGAG -3'
(R):5'- TCCTCATGACTACATTTTGAGTCAC -3'
Sequencing Primer
(F):5'- GGGAAGAGCTTACTGACCCATAATTC -3'
(R):5'- TGACTACATTTTGAGTCACAATTGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation