Incidental Mutation 'R1980:Ttc17'
| ID |
222104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc17
|
| Ensembl Gene |
ENSMUSG00000027194 |
| Gene Name |
tetratricopeptide repeat domain 17 |
| Synonyms |
D2Bwg1005e, 9130020K17Rik |
| MMRRC Submission |
039992-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.556)
|
| Stock # |
R1980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
94131112-94237034 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94157049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 411
(N411S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055081]
[ENSMUST00000094801]
[ENSMUST00000111237]
[ENSMUST00000111238]
|
| AlphaFold |
E9PVB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055081
AA Change: N411S
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000061360
Gene: ENSMUSG00000027194
AA Change: N411S
| 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 |
possibly damaging
Transcript: ENSMUST00000111237
AA Change: N927S
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106868
Gene: ENSMUSG00000027194
AA Change: N927S
| 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: N984S
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106869
Gene: ENSMUSG00000027194
AA Change: N984S
| 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 |
0.1385 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
C |
11: 100,386,702 (GRCm39) |
I620S |
possibly damaging |
Het |
| Acot8 |
A |
G |
2: 164,636,964 (GRCm39) |
F262S |
probably damaging |
Het |
| Adgb |
C |
T |
10: 10,309,242 (GRCm39) |
V246I |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,022,771 (GRCm39) |
M1200K |
probably damaging |
Het |
| Alg11 |
T |
A |
8: 22,551,903 (GRCm39) |
F16I |
possibly damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,244 (GRCm39) |
V234A |
probably benign |
Het |
| Arhgap19 |
T |
G |
19: 41,776,784 (GRCm39) |
I122L |
possibly damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,641,767 (GRCm39) |
S201P |
probably damaging |
Het |
| Asgr1 |
A |
T |
11: 69,945,772 (GRCm39) |
D16V |
probably damaging |
Het |
| Camta2 |
A |
T |
11: 70,573,308 (GRCm39) |
C227S |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,572,658 (GRCm39) |
L317Q |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,386,112 (GRCm39) |
I2056K |
probably benign |
Het |
| Cenpi |
T |
A |
X: 133,218,782 (GRCm39) |
F161L |
possibly damaging |
Het |
| Ciapin1 |
C |
T |
8: 95,559,161 (GRCm39) |
V43I |
probably benign |
Het |
| Cox5b-ps |
T |
G |
13: 21,685,294 (GRCm39) |
T99P |
possibly damaging |
Het |
| Dach1 |
A |
G |
14: 98,068,777 (GRCm39) |
L601P |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,455,734 (GRCm39) |
L711Q |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,471,707 (GRCm39) |
N653I |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
| Galnt5 |
T |
C |
2: 57,914,735 (GRCm39) |
|
probably null |
Het |
| Gemin5 |
A |
G |
11: 58,027,743 (GRCm39) |
L935P |
probably damaging |
Het |
| Gm9507 |
A |
T |
10: 77,647,519 (GRCm39) |
C53* |
probably null |
Het |
| Irgm2 |
A |
G |
11: 58,110,902 (GRCm39) |
I198V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klf12 |
A |
C |
14: 100,387,162 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,480,451 (GRCm39) |
P73L |
probably damaging |
Het |
| Lrrc34 |
G |
A |
3: 30,696,890 (GRCm39) |
H127Y |
probably benign |
Het |
| Lyar |
T |
C |
5: 38,382,053 (GRCm39) |
S12P |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 52,011,473 (GRCm39) |
I31T |
unknown |
Het |
| Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
| Minar2 |
T |
A |
18: 59,208,739 (GRCm39) |
M129K |
probably damaging |
Het |
| Mysm1 |
A |
T |
4: 94,840,450 (GRCm39) |
N655K |
probably benign |
Het |
| Npnt |
T |
C |
3: 132,653,893 (GRCm39) |
I29M |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,395,746 (GRCm39) |
W137R |
probably benign |
Het |
| Numb |
C |
T |
12: 83,844,118 (GRCm39) |
|
probably null |
Het |
| Obsl1 |
A |
G |
1: 75,482,480 (GRCm39) |
F130S |
probably damaging |
Het |
| Or2h1 |
T |
G |
17: 37,404,295 (GRCm39) |
Q157P |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
| Pbx4 |
T |
C |
8: 70,322,776 (GRCm39) |
V294A |
probably benign |
Het |
| Pde4dip |
A |
C |
3: 97,664,312 (GRCm39) |
L524R |
possibly damaging |
Het |
| Plppr1 |
G |
A |
4: 49,337,655 (GRCm39) |
A319T |
probably benign |
Het |
| Ppid |
A |
T |
3: 79,500,925 (GRCm39) |
I32F |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
| Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,991,261 (GRCm39) |
E291G |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,782,615 (GRCm39) |
K923N |
possibly damaging |
Het |
| Rab25 |
T |
C |
3: 88,450,765 (GRCm39) |
T45A |
probably damaging |
Het |
| Rapgef1 |
C |
T |
2: 29,612,239 (GRCm39) |
P630S |
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,452,821 (GRCm39) |
D355G |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
| Rtn4 |
A |
T |
11: 29,658,634 (GRCm39) |
E929D |
probably benign |
Het |
| Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
| Slk |
T |
G |
19: 47,600,428 (GRCm39) |
I151S |
probably damaging |
Het |
| Spin1 |
T |
A |
13: 51,298,506 (GRCm39) |
V175D |
probably damaging |
Het |
| Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
| Tmem151b |
G |
C |
17: 45,856,387 (GRCm39) |
P351R |
possibly damaging |
Het |
| Tmod1 |
A |
C |
4: 46,061,043 (GRCm39) |
Y10S |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,858,182 (GRCm39) |
Y225H |
possibly damaging |
Het |
| Tyro3 |
A |
G |
2: 119,639,298 (GRCm39) |
D335G |
probably benign |
Het |
| Unc79 |
C |
A |
12: 102,977,538 (GRCm39) |
Y180* |
probably null |
Het |
| Upp1 |
A |
T |
11: 9,084,872 (GRCm39) |
D197V |
possibly damaging |
Het |
| Vmn1r226 |
T |
A |
17: 20,908,308 (GRCm39) |
M180K |
possibly damaging |
Het |
| Vtn |
T |
A |
11: 78,392,724 (GRCm39) |
I434N |
probably damaging |
Het |
| Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
| Zfp819 |
A |
G |
7: 43,265,885 (GRCm39) |
T47A |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,123,127 (GRCm39) |
T280I |
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 |
|
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 |
|
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'- TGACTGACAGCTTGCAATGGG -3'
(R):5'- GGAAACAACTGCTTAGCTCCC -3'
Sequencing Primer
(F):5'- GCACCTAGAACGGGGTCATTTATC -3'
(R):5'- GAAACAACTGCTTAGCTCCCATTCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation