Incidental Mutation 'R8304:Ttc17'
| ID |
656562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc17
|
| Ensembl Gene |
ENSMUSG00000027194 |
| Gene Name |
tetratricopeptide repeat domain 17 |
| Synonyms |
D2Bwg1005e, 9130020K17Rik |
| MMRRC Submission |
067791-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.556)
|
| Stock # |
R8304 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 94199526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 109,997,954 (GRCm39) |
|
probably null |
Het |
| Akap11 |
T |
C |
14: 78,750,672 (GRCm39) |
T572A |
|
Het |
| Amigo2 |
A |
T |
15: 97,144,038 (GRCm39) |
L128Q |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,542 (GRCm39) |
I1297T |
possibly damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,167,233 (GRCm39) |
C623* |
probably null |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Asb15 |
C |
T |
6: 24,559,296 (GRCm39) |
P147L |
possibly damaging |
Het |
| Caprin1 |
G |
T |
2: 103,599,862 (GRCm39) |
N604K |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,897,679 (GRCm39) |
F113L |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,616,087 (GRCm39) |
R393H |
probably benign |
Het |
| Cul4a |
G |
A |
8: 13,177,727 (GRCm39) |
C289Y |
possibly damaging |
Het |
| Cyp4a29 |
T |
A |
4: 115,111,653 (GRCm39) |
F477I |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,139,027 (GRCm39) |
A116V |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,451,803 (GRCm39) |
I1231T |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,774 (GRCm39) |
I874V |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,828 (GRCm39) |
S196T |
probably damaging |
Het |
| Erc2 |
T |
G |
14: 27,375,122 (GRCm39) |
D113E |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,274,066 (GRCm39) |
I1103V |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,490,766 (GRCm39) |
T308A |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,871,950 (GRCm39) |
N2650K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,809,186 (GRCm39) |
D2562G |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,607,695 (GRCm39) |
L67* |
probably null |
Het |
| Irx3 |
T |
A |
8: 92,526,834 (GRCm39) |
D290V |
probably damaging |
Het |
| Kcns1 |
A |
T |
2: 164,010,022 (GRCm39) |
Y246N |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,127 (GRCm39) |
T1557A |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,069,929 (GRCm39) |
N29S |
possibly damaging |
Het |
| Mmp24 |
T |
C |
2: 155,641,759 (GRCm39) |
F196L |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,955,119 (GRCm39) |
V704A |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,958,803 (GRCm39) |
M112V |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,195,162 (GRCm39) |
H1659N |
possibly damaging |
Het |
| Nlgn1 |
C |
T |
3: 26,187,534 (GRCm39) |
C117Y |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,416,489 (GRCm39) |
T237M |
possibly damaging |
Het |
| Or2r2 |
C |
T |
6: 42,463,672 (GRCm39) |
V152I |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,423,917 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Or5v1 |
A |
T |
17: 37,810,261 (GRCm39) |
T240S |
probably damaging |
Het |
| Or8b57 |
A |
T |
9: 40,003,650 (GRCm39) |
I204N |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,104,402 (GRCm39) |
T641M |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,940,203 (GRCm39) |
H537R |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,824,101 (GRCm39) |
L174Q |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 30,701,584 (GRCm39) |
V326A |
possibly damaging |
Het |
| Psmb3 |
T |
A |
11: 97,601,995 (GRCm39) |
C122S |
probably benign |
Het |
| Sh3bgrl3 |
C |
A |
4: 133,855,312 (GRCm39) |
A45S |
probably benign |
Het |
| Slc25a47 |
T |
C |
12: 108,821,868 (GRCm39) |
V219A |
possibly damaging |
Het |
| Slfn9 |
A |
C |
11: 82,873,605 (GRCm39) |
S433A |
probably benign |
Het |
| Spata13 |
A |
T |
14: 60,993,957 (GRCm39) |
R1136S |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,870,911 (GRCm39) |
A1313S |
probably benign |
Het |
| Stim1 |
G |
A |
7: 102,084,688 (GRCm39) |
A547T |
possibly damaging |
Het |
| Taf5l |
A |
T |
8: 124,730,251 (GRCm39) |
I146N |
probably benign |
Het |
| Tbc1d12 |
A |
T |
19: 38,825,824 (GRCm39) |
E225V |
possibly damaging |
Het |
| Tesc |
T |
C |
5: 118,194,495 (GRCm39) |
Y135H |
probably benign |
Het |
| Tfg |
T |
C |
16: 56,521,581 (GRCm39) |
E145G |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,565,109 (GRCm39) |
C1150* |
probably null |
Het |
| Tmtc1 |
T |
C |
6: 148,172,883 (GRCm39) |
N616S |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,797 (GRCm39) |
W1600R |
probably damaging |
Het |
| Zfand1 |
A |
T |
3: 10,413,615 (GRCm39) |
L24* |
probably null |
Het |
| Zfp282 |
AGCGGCGGCGGCGGCGGC |
AGCGGCGGCGGCGGC |
6: 47,881,722 (GRCm39) |
|
probably benign |
Het |
| Zfp770 |
A |
C |
2: 114,027,891 (GRCm39) |
F59L |
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 |
|
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'- AATAGCGGATCTCAGTCTGTGG -3'
(R):5'- CGCTACCATCGAGGAGATATCTTTG -3'
Sequencing Primer
(F):5'- GATCTCAGTCTGTGGGTCATAACC -3'
(R):5'- GAAAATGTGGACTATGTTCAGGTCTC -3'
|
| Posted On |
2020-12-18 |
Incidental Mutation