Incidental Mutation 'R5583:Ttc17'
| ID |
438546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc17
|
| Ensembl Gene |
ENSMUSG00000027194 |
| Gene Name |
tetratricopeptide repeat domain 17 |
| Synonyms |
D2Bwg1005e, 9130020K17Rik |
| MMRRC Submission |
043137-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.556)
|
| Stock # |
R5583 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94208027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 194
(D194E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094801
AA Change: D194E
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092395
Gene: ENSMUSG00000027194
AA Change: D194E
| 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 damaging
Transcript: ENSMUST00000111237
AA Change: D194E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: D194E
| 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 damaging
Transcript: ENSMUST00000111238
AA Change: D194E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: D194E
| 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: ENSMUST00000150266
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,083 (GRCm39) |
L8Q |
probably damaging |
Het |
| Abca4 |
T |
C |
3: 121,942,550 (GRCm39) |
V1681A |
probably damaging |
Het |
| Abce1 |
G |
T |
8: 80,416,922 (GRCm39) |
A363E |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,564,800 (GRCm39) |
Y256C |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,695,740 (GRCm39) |
C416R |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,984,281 (GRCm39) |
V1855D |
probably damaging |
Het |
| Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
| Ankrd35 |
G |
T |
3: 96,592,219 (GRCm39) |
R835L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,615,414 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Cdk6 |
T |
A |
5: 3,394,436 (GRCm39) |
Y24N |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,473 (GRCm39) |
N323K |
probably damaging |
Het |
| Cops9 |
A |
T |
1: 92,567,489 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,879,506 (GRCm39) |
T561A |
probably benign |
Het |
| Dcdc5 |
T |
C |
2: 106,195,778 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7b |
G |
T |
1: 46,281,359 (GRCm39) |
A2807S |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,413,368 (GRCm39) |
T196A |
possibly damaging |
Het |
| Fam217a |
C |
A |
13: 35,094,280 (GRCm39) |
C402F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,715 (GRCm39) |
V4053E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,791,004 (GRCm39) |
V755A |
probably damaging |
Het |
| Fxr1 |
C |
A |
3: 34,123,125 (GRCm39) |
S641R |
probably benign |
Het |
| Gata5 |
A |
T |
2: 179,976,047 (GRCm39) |
M39K |
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,807,278 (GRCm39) |
D1658E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,400,110 (GRCm39) |
T426M |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Helq |
T |
C |
5: 100,910,459 (GRCm39) |
E1039G |
probably damaging |
Het |
| Hibch |
T |
A |
1: 52,940,406 (GRCm39) |
Y192N |
probably damaging |
Het |
| Hp1bp3 |
A |
G |
4: 137,949,426 (GRCm39) |
I41M |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,101 (GRCm39) |
P486Q |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,634,060 (GRCm39) |
D17G |
probably benign |
Het |
| Kprp |
T |
A |
3: 92,731,643 (GRCm39) |
Y469F |
unknown |
Het |
| Kremen2 |
T |
C |
17: 23,961,229 (GRCm39) |
T373A |
probably benign |
Het |
| Lgi4 |
A |
G |
7: 30,760,562 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,409 (GRCm39) |
D176G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,424,332 (GRCm39) |
S785G |
probably benign |
Het |
| Ltbp1 |
A |
T |
17: 75,598,325 (GRCm39) |
Q920L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,455,196 (GRCm39) |
E1362G |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,272 (GRCm39) |
S8P |
probably damaging |
Het |
| Or2h1b |
T |
C |
17: 37,462,485 (GRCm39) |
Q126R |
probably benign |
Het |
| Pde4dip |
C |
T |
3: 97,654,892 (GRCm39) |
R888Q |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,994,271 (GRCm39) |
H494R |
probably damaging |
Het |
| Pira2 |
A |
G |
7: 3,845,545 (GRCm39) |
F280L |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,977,145 (GRCm39) |
W108* |
probably null |
Het |
| Ptcd3 |
A |
G |
6: 71,879,920 (GRCm39) |
S113P |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,404,842 (GRCm39) |
L42P |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,739 (GRCm39) |
C710Y |
probably damaging |
Het |
| Skint1 |
A |
C |
4: 111,876,253 (GRCm39) |
Q58P |
probably damaging |
Het |
| Spata7 |
A |
T |
12: 98,635,590 (GRCm39) |
N438I |
probably damaging |
Het |
| Spdya |
C |
A |
17: 71,876,126 (GRCm39) |
D164E |
probably damaging |
Het |
| Speer3 |
G |
A |
5: 13,844,782 (GRCm39) |
|
probably null |
Het |
| Ssc4d |
A |
T |
5: 135,999,050 (GRCm39) |
L51H |
probably damaging |
Het |
| Steap1 |
A |
G |
5: 5,790,579 (GRCm39) |
I123T |
possibly damaging |
Het |
| Styx |
T |
A |
14: 45,608,483 (GRCm39) |
F147I |
possibly damaging |
Het |
| Suv39h2 |
T |
A |
2: 3,475,890 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,373,446 (GRCm39) |
V84A |
probably benign |
Het |
| Tlcd1 |
T |
G |
11: 78,069,762 (GRCm39) |
V25G |
probably benign |
Het |
| Tmem79 |
T |
C |
3: 88,239,870 (GRCm39) |
Y280C |
probably damaging |
Het |
| Trim5 |
T |
A |
7: 103,926,042 (GRCm39) |
N173I |
probably damaging |
Het |
| Zfp2 |
T |
C |
11: 50,790,984 (GRCm39) |
E353G |
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 |
|
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'- AATGGCTCTACCCATGCCTC -3'
(R):5'- CTGCAGGCCACCTTATAATTCTAC -3'
Sequencing Primer
(F):5'- GTACCAATGTAATCACATAGCTCTGC -3'
(R):5'- AGGCCACCTTATAATTCTACCTACTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation