Incidental Mutation 'R2106:Tbc1d17'
| ID |
230976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d17
|
| Ensembl Gene |
ENSMUSG00000038520 |
| Gene Name |
TBC1 domain family, member 17 |
| Synonyms |
|
| MMRRC Submission |
040110-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R2106 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44497692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000127783]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207293]
[ENSMUST00000207223]
[ENSMUST00000141311]
[ENSMUST00000136232]
[ENSMUST00000150335]
[ENSMUST00000207532]
[ENSMUST00000207532]
[ENSMUST00000208384]
|
| AlphaFold |
Q8BYH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047085
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
8.2e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
545 |
3.93e-54 |
SMART |
|
Blast:TBC
|
554 |
594 |
1e-6 |
BLAST |
|
low complexity region
|
597 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000047085
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
8.2e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
545 |
3.93e-54 |
SMART |
|
Blast:TBC
|
554 |
594 |
1e-6 |
BLAST |
|
low complexity region
|
597 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054343
|
| SMART Domains |
Protein: ENSMUSP00000049764
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107880
|
| SMART Domains |
Protein: ENSMUSP00000103512
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
180 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107882
|
| SMART Domains |
Protein: ENSMUSP00000103514
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107885
|
| SMART Domains |
Protein: ENSMUSP00000103517
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
187 |
N/A |
INTRINSIC |
|
Pfam:PRAS
|
199 |
323 |
1.2e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127783
|
| SMART Domains |
Protein: ENSMUSP00000116149
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
Pfam:PRAS
|
134 |
247 |
1.3e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145959
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3548
|
3 |
217 |
5.8e-93 |
PFAM |
|
low complexity region
|
249 |
259 |
N/A |
INTRINSIC |
|
TBC
|
307 |
544 |
3.91e-40 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130081
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207293
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141311
|
| SMART Domains |
Protein: ENSMUSP00000120690
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136232
|
| SMART Domains |
Protein: ENSMUSP00000116541
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150335
|
| SMART Domains |
Protein: ENSMUSP00000122607
Gene: ENSMUSG00000011096
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208890
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208890
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207532
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
C |
2: 26,992,837 (GRCm39) |
F650S |
probably benign |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| Ankrd61 |
A |
T |
5: 143,828,564 (GRCm39) |
L95Q |
probably damaging |
Het |
| Atp11a |
A |
G |
8: 12,885,228 (GRCm39) |
T22A |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,803 (GRCm39) |
V777A |
possibly damaging |
Het |
| Ccdc40 |
G |
T |
11: 119,155,123 (GRCm39) |
R1121L |
probably damaging |
Het |
| Cdhr4 |
A |
C |
9: 107,874,693 (GRCm39) |
S588R |
possibly damaging |
Het |
| Cfap69 |
T |
C |
5: 5,645,979 (GRCm39) |
N517D |
probably benign |
Het |
| Chrm2 |
T |
C |
6: 36,500,382 (GRCm39) |
Y80H |
probably damaging |
Het |
| Cimip2a |
A |
G |
2: 25,110,663 (GRCm39) |
Y157C |
probably damaging |
Het |
| Csgalnact2 |
G |
T |
6: 118,086,090 (GRCm39) |
Y534* |
probably null |
Het |
| Defb35 |
A |
G |
8: 22,430,809 (GRCm39) |
E61G |
unknown |
Het |
| Dhx15 |
A |
T |
5: 52,327,428 (GRCm39) |
D95E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,792 (GRCm39) |
V271A |
probably damaging |
Het |
| Dlg1 |
T |
C |
16: 31,631,574 (GRCm39) |
S444P |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,825,686 (GRCm39) |
N406K |
probably damaging |
Het |
| Eif4g3 |
A |
T |
4: 137,810,230 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,717,152 (GRCm39) |
I56T |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,034,578 (GRCm39) |
Y1442* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,147,390 (GRCm39) |
T3951A |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,255,674 (GRCm39) |
S786P |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,802,769 (GRCm39) |
T224A |
probably benign |
Het |
| Ginm1 |
A |
T |
10: 7,651,090 (GRCm39) |
F105L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,426,939 (GRCm39) |
V688A |
probably benign |
Het |
| Hnmt |
T |
G |
2: 23,909,130 (GRCm39) |
Q94H |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,753,741 (GRCm39) |
Y782H |
probably benign |
Het |
| Immt |
T |
C |
6: 71,848,499 (GRCm39) |
V418A |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Krt84 |
T |
C |
15: 101,439,301 (GRCm39) |
N248D |
probably damaging |
Het |
| Lig1 |
C |
A |
7: 13,039,863 (GRCm39) |
R692S |
probably damaging |
Het |
| Lvrn |
G |
T |
18: 47,011,356 (GRCm39) |
A438S |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,887,054 (GRCm39) |
V1204I |
probably damaging |
Het |
| Med21 |
G |
T |
6: 146,550,710 (GRCm39) |
D74Y |
probably damaging |
Het |
| Nat8 |
T |
C |
6: 85,807,506 (GRCm39) |
D209G |
probably benign |
Het |
| Nipal1 |
C |
A |
5: 72,820,902 (GRCm39) |
F132L |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,644,329 (GRCm39) |
I613F |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,617,073 (GRCm39) |
T706A |
probably benign |
Het |
| Or5w1b |
A |
G |
2: 87,475,895 (GRCm39) |
S191P |
probably damaging |
Het |
| Or8w1 |
T |
C |
2: 87,465,503 (GRCm39) |
E196G |
probably benign |
Het |
| Pam |
A |
G |
1: 97,759,215 (GRCm39) |
V823A |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,011,565 (GRCm39) |
Y93N |
probably damaging |
Het |
| Perm1 |
T |
C |
4: 156,303,336 (GRCm39) |
W627R |
probably damaging |
Het |
| Pofut1 |
G |
A |
2: 153,101,713 (GRCm39) |
|
probably null |
Het |
| Prmt5 |
T |
C |
14: 54,745,374 (GRCm39) |
I598V |
probably benign |
Het |
| Rab11fip5 |
T |
C |
6: 85,351,369 (GRCm39) |
I48V |
probably damaging |
Het |
| Rad51d |
T |
A |
11: 82,770,134 (GRCm39) |
K261N |
probably damaging |
Het |
| Rapgef6 |
T |
G |
11: 54,559,512 (GRCm39) |
I1050S |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,468,474 (GRCm39) |
E4688G |
probably damaging |
Het |
| Siva1 |
G |
T |
12: 112,613,440 (GRCm39) |
R96L |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,264,799 (GRCm39) |
N140S |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,028,542 (GRCm39) |
D342V |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,878,506 (GRCm39) |
S208P |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,443,250 (GRCm39) |
T1899N |
possibly damaging |
Het |
| Sytl1 |
T |
C |
4: 132,984,774 (GRCm39) |
D200G |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,569 (GRCm39) |
N164S |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,377,076 (GRCm39) |
M140T |
possibly damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,532,396 (GRCm39) |
F352S |
probably benign |
Het |
| Tmem88 |
A |
G |
11: 69,288,685 (GRCm39) |
L78P |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,511,274 (GRCm39) |
S515P |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,714 (GRCm39) |
E583V |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,547,342 (GRCm39) |
C91R |
probably damaging |
Het |
| Ubap1l |
T |
C |
9: 65,281,089 (GRCm39) |
S256P |
probably benign |
Het |
| Vmn1r26 |
T |
G |
6: 57,985,710 (GRCm39) |
S160R |
possibly damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,168,100 (GRCm39) |
S785G |
probably damaging |
Het |
| Wdr27 |
T |
G |
17: 15,141,116 (GRCm39) |
R278S |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,911,109 (GRCm39) |
S834P |
probably damaging |
Het |
| Zdhhc12 |
C |
T |
2: 29,981,814 (GRCm39) |
C116Y |
probably damaging |
Het |
| Zfp946 |
T |
C |
17: 22,672,466 (GRCm39) |
F22L |
probably benign |
Het |
| Zfp948 |
G |
T |
17: 21,807,953 (GRCm39) |
E382* |
probably null |
Het |
| Zfp956 |
T |
A |
6: 47,941,359 (GRCm39) |
*573K |
probably null |
Het |
| Zim1 |
T |
G |
7: 6,681,073 (GRCm39) |
T197P |
probably benign |
Het |
|
| Other mutations in Tbc1d17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Tbc1d17
|
APN |
7 |
44,492,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00791:Tbc1d17
|
APN |
7 |
44,494,737 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01865:Tbc1d17
|
APN |
7 |
44,492,113 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02468:Tbc1d17
|
APN |
7 |
44,497,753 (GRCm39) |
missense |
probably benign |
|
|
IGL02829:Tbc1d17
|
APN |
7 |
44,498,296 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4431001:Tbc1d17
|
UTSW |
7 |
44,494,498 (GRCm39) |
missense |
probably benign |
|
|
R0035:Tbc1d17
|
UTSW |
7 |
44,490,832 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0035:Tbc1d17
|
UTSW |
7 |
44,490,832 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0066:Tbc1d17
|
UTSW |
7 |
44,493,495 (GRCm39) |
unclassified |
probably benign |
|
|
R0066:Tbc1d17
|
UTSW |
7 |
44,493,495 (GRCm39) |
unclassified |
probably benign |
|
|
R0414:Tbc1d17
|
UTSW |
7 |
44,495,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0574:Tbc1d17
|
UTSW |
7 |
44,492,547 (GRCm39) |
unclassified |
probably benign |
|
|
R0626:Tbc1d17
|
UTSW |
7 |
44,492,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0960:Tbc1d17
|
UTSW |
7 |
44,497,852 (GRCm39) |
splice site |
probably benign |
|
|
R1203:Tbc1d17
|
UTSW |
7 |
44,492,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1244:Tbc1d17
|
UTSW |
7 |
44,493,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1730:Tbc1d17
|
UTSW |
7 |
44,494,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1783:Tbc1d17
|
UTSW |
7 |
44,494,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Tbc1d17
|
UTSW |
7 |
44,491,057 (GRCm39) |
unclassified |
probably benign |
|
|
R1953:Tbc1d17
|
UTSW |
7 |
44,490,822 (GRCm39) |
splice site |
probably null |
|
|
R3889:Tbc1d17
|
UTSW |
7 |
44,495,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Tbc1d17
|
UTSW |
7 |
44,496,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Tbc1d17
|
UTSW |
7 |
44,490,771 (GRCm39) |
missense |
probably benign |
|
|
R4787:Tbc1d17
|
UTSW |
7 |
44,492,488 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5422:Tbc1d17
|
UTSW |
7 |
44,498,292 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5569:Tbc1d17
|
UTSW |
7 |
44,497,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Tbc1d17
|
UTSW |
7 |
44,494,761 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6502:Tbc1d17
|
UTSW |
7 |
44,491,049 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6838:Tbc1d17
|
UTSW |
7 |
44,493,738 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7543:Tbc1d17
|
UTSW |
7 |
44,495,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8118:Tbc1d17
|
UTSW |
7 |
44,492,426 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8899:Tbc1d17
|
UTSW |
7 |
44,492,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Tbc1d17
|
UTSW |
7 |
44,494,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Tbc1d17
|
UTSW |
7 |
44,490,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbc1d17
|
UTSW |
7 |
44,492,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCAGACCAAAACTAGG -3'
(R):5'- CCTTGGCTTTCACTAGGTGG -3'
Sequencing Primer
(F):5'- TAGGCCACACCCCTTGAG -3'
(R):5'- AGGATCCAGACTCGCTCATCG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation