Incidental Mutation 'R8737:Ttc17'
| ID |
663073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc17
|
| Ensembl Gene |
ENSMUSG00000027194 |
| Gene Name |
tetratricopeptide repeat domain 17 |
| Synonyms |
D2Bwg1005e, 9130020K17Rik |
| MMRRC Submission |
068584-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.619)
|
| Stock # |
R8737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 94206374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094801
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
| 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 null
Transcript: ENSMUST00000111238
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
| 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 |
0.9594 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
T |
A |
1: 38,308,810 (GRCm39) |
D375V |
probably damaging |
Het |
| Agfg1 |
C |
G |
1: 82,871,243 (GRCm39) |
P492A |
probably benign |
Het |
| Asb13 |
T |
C |
13: 3,692,089 (GRCm39) |
V23A |
probably damaging |
Het |
| Atxn1l |
A |
T |
8: 110,460,230 (GRCm39) |
C11S |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,244 (GRCm39) |
S661A |
probably benign |
Het |
| Btrc |
T |
C |
19: 45,496,198 (GRCm39) |
V211A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,794 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
T |
17: 45,943,801 (GRCm39) |
L578I |
probably benign |
Het |
| Cd82 |
A |
T |
2: 93,252,239 (GRCm39) |
I124N |
probably damaging |
Het |
| Cdkl4 |
G |
T |
17: 80,858,258 (GRCm39) |
H120Q |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,319,728 (GRCm39) |
V1393A |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,318,706 (GRCm39) |
R1402* |
probably null |
Het |
| Col6a3 |
T |
G |
1: 90,727,747 (GRCm39) |
Y1960S |
probably benign |
Het |
| Col9a1 |
A |
T |
1: 24,224,127 (GRCm39) |
Y103F |
unknown |
Het |
| Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,658,166 (GRCm39) |
C249S |
probably benign |
Het |
| Derl1 |
A |
T |
15: 57,755,568 (GRCm39) |
W42R |
probably benign |
Het |
| Dhx36 |
C |
A |
3: 62,386,747 (GRCm39) |
M668I |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,044,428 (GRCm39) |
K3228E |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,267,750 (GRCm39) |
A3050V |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,049,594 (GRCm39) |
Y70H |
probably damaging |
Het |
| Epb42 |
T |
A |
2: 120,856,324 (GRCm39) |
T407S |
possibly damaging |
Het |
| Fads2b |
T |
A |
2: 85,324,387 (GRCm39) |
|
probably benign |
Het |
| Fap |
T |
A |
2: 62,342,777 (GRCm39) |
I608L |
probably benign |
Het |
| Fblim1 |
A |
G |
4: 141,310,387 (GRCm39) |
Y292H |
probably benign |
Het |
| Fmod |
A |
G |
1: 133,968,043 (GRCm39) |
I28V |
probably benign |
Het |
| Gad2 |
T |
A |
2: 22,524,985 (GRCm39) |
Y256* |
probably null |
Het |
| Gapdh |
G |
A |
6: 125,139,017 (GRCm39) |
A353V |
probably benign |
Het |
| Gm5460 |
T |
G |
14: 33,739,149 (GRCm39) |
W44G |
unknown |
Het |
| Ino80e |
A |
T |
7: 126,460,974 (GRCm39) |
V91D |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,802,258 (GRCm39) |
P896S |
probably damaging |
Het |
| Kif26b |
T |
A |
1: 178,692,430 (GRCm39) |
I457N |
probably damaging |
Het |
| Klc2 |
T |
A |
19: 5,168,477 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
C |
A |
4: 134,495,147 (GRCm39) |
W22L |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,017,665 (GRCm39) |
D439G |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,540,510 (GRCm39) |
L812P |
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,504 (GRCm39) |
I90N |
probably damaging |
Het |
| Mptx2 |
A |
C |
1: 173,105,256 (GRCm39) |
S12A |
probably benign |
Het |
| Mrgpra9 |
G |
T |
7: 46,885,624 (GRCm39) |
N14K |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,456,949 (GRCm39) |
R2350C |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,396,748 (GRCm39) |
I913T |
probably benign |
Het |
| Nuggc |
G |
T |
14: 65,882,535 (GRCm39) |
C760F |
probably benign |
Het |
| Or10a3m |
T |
A |
7: 108,312,964 (GRCm39) |
F135I |
probably damaging |
Het |
| Or1j13 |
T |
A |
2: 36,369,629 (GRCm39) |
N171I |
probably benign |
Het |
| Or2y1f |
T |
A |
11: 49,184,965 (GRCm39) |
F272L |
probably damaging |
Het |
| Or4c110 |
C |
A |
2: 88,832,351 (GRCm39) |
E94* |
probably null |
Het |
| Or51b6 |
A |
G |
7: 103,555,913 (GRCm39) |
N86S |
|
Het |
| Pdgfrb |
C |
T |
18: 61,214,073 (GRCm39) |
P953S |
probably damaging |
Het |
| Pemt |
T |
G |
11: 59,874,285 (GRCm39) |
I102L |
probably benign |
Het |
| Pla2g4c |
G |
T |
7: 13,069,154 (GRCm39) |
M109I |
probably benign |
Het |
| Pla2g4d |
T |
A |
2: 120,100,466 (GRCm39) |
Y622F |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,283,531 (GRCm39) |
V400D |
probably damaging |
Het |
| Pnpt1 |
G |
C |
11: 29,104,815 (GRCm39) |
|
probably null |
Het |
| Pramel29 |
A |
C |
4: 143,935,192 (GRCm39) |
L183R |
probably damaging |
Het |
| Prrc1 |
T |
A |
18: 57,496,408 (GRCm39) |
S120T |
possibly damaging |
Het |
| Prrx2 |
T |
G |
2: 30,768,578 (GRCm39) |
V135G |
probably damaging |
Het |
| Qrfprl |
A |
G |
6: 65,433,260 (GRCm39) |
K360R |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,593,054 (GRCm39) |
N352S |
probably benign |
Het |
| Sftpa1 |
T |
C |
14: 40,856,044 (GRCm39) |
S130P |
probably damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,695,042 (GRCm39) |
L136P |
probably benign |
Het |
| Tarbp2 |
T |
A |
15: 102,430,202 (GRCm39) |
S155T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tmem116 |
A |
T |
5: 121,620,433 (GRCm39) |
Y146F |
|
Het |
| Vmn2r114 |
G |
A |
17: 23,529,142 (GRCm39) |
T320I |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,783 (GRCm39) |
V785D |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,693,722 (GRCm39) |
N357K |
probably damaging |
Het |
| Zfp811 |
A |
T |
17: 33,017,197 (GRCm39) |
L281Q |
possibly 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 |
|
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'- ACTTACTGACACCCGTGATCC -3'
(R):5'- ATCTTTGGAGCAGTGCAGTG -3'
Sequencing Primer
(F):5'- GTGATCCTTTCTCTTGACAAGAC -3'
(R):5'- CAGAAGAGCCAGTGTCTTAATTGTGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation