Incidental Mutation 'IGL02468:Tbc1d17'
| ID |
294625 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbc1d17
|
| Ensembl Gene |
ENSMUSG00000038520 |
| Gene Name |
TBC1 domain family, member 17 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
IGL02468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44497753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 40
(F40L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000127783]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207223]
[ENSMUST00000136232]
[ENSMUST00000141311]
[ENSMUST00000150335]
[ENSMUST00000207532]
[ENSMUST00000208384]
|
| AlphaFold |
Q8BYH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047085
AA Change: F45L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: F45L
| 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 |
probably benign
Transcript: ENSMUST00000145959
AA Change: F45L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: F45L
| 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 |
probably benign
Transcript: ENSMUST00000207293
AA Change: F45L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
| 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: 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: 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 benign
Transcript: ENSMUST00000207532
AA Change: F40L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000208890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
A |
T |
3: 148,596,116 (GRCm39) |
D73E |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,688 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
| Clec16a |
T |
A |
16: 10,559,742 (GRCm39) |
I1005N |
probably benign |
Het |
| Cog5 |
T |
C |
12: 31,887,357 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
T |
C |
4: 133,809,898 (GRCm39) |
S1217P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,024,025 (GRCm39) |
M265K |
probably benign |
Het |
| Ddx60 |
T |
G |
8: 62,411,676 (GRCm39) |
S509R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,195 (GRCm39) |
S3616P |
probably benign |
Het |
| Galnt9 |
T |
C |
5: 110,762,089 (GRCm39) |
F409S |
possibly damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,828 (GRCm39) |
V268A |
probably benign |
Het |
| Ifi47 |
T |
A |
11: 48,986,810 (GRCm39) |
S192R |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,034,114 (GRCm39) |
Y596H |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,364,348 (GRCm39) |
C1096R |
probably damaging |
Het |
| Marchf1 |
A |
G |
8: 66,871,563 (GRCm39) |
Q109R |
probably damaging |
Het |
| Or2y1d |
A |
T |
11: 49,321,941 (GRCm39) |
I213F |
probably damaging |
Het |
| Or7d9 |
T |
C |
9: 20,197,574 (GRCm39) |
L201P |
probably damaging |
Het |
| Or7g32 |
G |
T |
9: 19,408,473 (GRCm39) |
C143F |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,909,574 (GRCm39) |
V500D |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,589 (GRCm39) |
L57H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,231 (GRCm39) |
V394A |
probably benign |
Het |
| Pogz |
A |
G |
3: 94,786,394 (GRCm39) |
N994S |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,187,040 (GRCm39) |
M406L |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,212,387 (GRCm39) |
S323G |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,121,504 (GRCm39) |
T854A |
probably benign |
Het |
| Puf60 |
A |
C |
15: 75,947,685 (GRCm39) |
|
probably benign |
Het |
| Six2 |
C |
T |
17: 85,992,931 (GRCm39) |
E191K |
possibly damaging |
Het |
| Tektip1 |
G |
T |
10: 81,201,563 (GRCm39) |
L20I |
possibly damaging |
Het |
| Thsd7a |
A |
G |
6: 12,318,170 (GRCm39) |
V1600A |
probably damaging |
Het |
| Tm4sf19 |
C |
A |
16: 32,226,533 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,334,824 (GRCm39) |
T33A |
probably benign |
Het |
| Troap |
A |
T |
15: 98,973,242 (GRCm39) |
T3S |
possibly damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,688,389 (GRCm39) |
I3074L |
probably benign |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
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 |
|
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 |
|
|
R2106:Tbc1d17
|
UTSW |
7 |
44,497,692 (GRCm39) |
critical splice donor 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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation