Incidental Mutation 'R9391:Tbc1d17'
| ID |
710590 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44494683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 212
(S212P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033015]
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000118125]
[ENSMUST00000141311]
[ENSMUST00000145959]
[ENSMUST00000150335]
[ENSMUST00000207293]
[ENSMUST00000207532]
[ENSMUST00000208384]
|
| AlphaFold |
Q8BYH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033015
|
| SMART Domains |
Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
42 |
93 |
1.3e-9 |
PFAM |
|
Pfam:Thi4
|
53 |
100 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
59 |
94 |
1.4e-7 |
PFAM |
|
Pfam:HI0933_like
|
59 |
161 |
1.3e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
60 |
100 |
1.5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
60 |
100 |
1.9e-8 |
PFAM |
|
Pfam:Pyr_redox_2
|
60 |
125 |
7.3e-8 |
PFAM |
|
Pfam:DAO
|
60 |
140 |
2.8e-9 |
PFAM |
|
Pfam:NAD_binding_8
|
63 |
130 |
3.6e-17 |
PFAM |
|
Pfam:Amino_oxidase
|
68 |
503 |
9.9e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047085
AA Change: S212P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: S212P
| 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 |
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: ENSMUST00000118125
|
| SMART Domains |
Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:AlaDh_PNT_C
|
47 |
111 |
6.6e-9 |
PFAM |
|
Pfam:Pyr_redox_2
|
47 |
111 |
2e-9 |
PFAM |
|
Pfam:HI0933_like
|
67 |
169 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_2
|
68 |
108 |
5e-8 |
PFAM |
|
Pfam:Pyr_redox
|
68 |
109 |
8.5e-8 |
PFAM |
|
Pfam:DAO
|
68 |
159 |
5.6e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
71 |
138 |
1.2e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
76 |
511 |
5.9e-84 |
PFAM |
|
| 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: ENSMUST00000142880
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145959
AA Change: S212P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: S212P
| 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: 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 |
silent
Transcript: ENSMUST00000207293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,178,542 (GRCm39) |
T1144A |
probably benign |
Het |
| Adam32 |
C |
T |
8: 25,374,472 (GRCm39) |
E507K |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,400,071 (GRCm39) |
E974G |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,602 (GRCm39) |
E560G |
unknown |
Het |
| Ank2 |
A |
T |
3: 126,731,394 (GRCm39) |
H671Q |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,928,366 (GRCm39) |
T485M |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,446,022 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
A |
G |
15: 78,415,516 (GRCm39) |
C23R |
unknown |
Het |
| Ccdc18 |
T |
C |
5: 108,376,770 (GRCm39) |
F1404L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,198,027 (GRCm39) |
I2107N |
unknown |
Het |
| Cfap97d1 |
G |
T |
11: 101,881,655 (GRCm39) |
R117I |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
C |
14: 75,508,136 (GRCm39) |
Q199P |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,914 (GRCm39) |
Y2347* |
probably null |
Het |
| Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
| F2r |
A |
T |
13: 95,740,656 (GRCm39) |
V293D |
probably damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,629 (GRCm39) |
W22* |
probably null |
Het |
| Hira |
T |
C |
16: 18,767,892 (GRCm39) |
S696P |
possibly damaging |
Het |
| Klhl2 |
A |
G |
8: 65,275,684 (GRCm39) |
V73A |
probably damaging |
Het |
| Lalba |
A |
T |
15: 98,380,417 (GRCm39) |
W46R |
probably damaging |
Het |
| Map3k13 |
C |
A |
16: 21,740,665 (GRCm39) |
T664N |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,216,376 (GRCm39) |
K1166* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,297,979 (GRCm39) |
M176K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,408 (GRCm39) |
S3045P |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,272 (GRCm39) |
A127T |
probably damaging |
Het |
| Plekhg4 |
G |
C |
8: 106,106,043 (GRCm39) |
K813N |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prdm12 |
G |
A |
2: 31,544,162 (GRCm39) |
R255H |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,854,990 (GRCm39) |
I405T |
possibly damaging |
Het |
| Sctr |
A |
G |
1: 119,983,178 (GRCm39) |
T328A |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,681,101 (GRCm39) |
S362T |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,744,630 (GRCm39) |
L818P |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,038,633 (GRCm39) |
V463I |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,418,739 (GRCm39) |
F241S |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,735,220 (GRCm39) |
Y680* |
probably null |
Het |
| Tle1 |
A |
T |
4: 72,116,159 (GRCm39) |
V62E |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,883,075 (GRCm39) |
N163K |
probably damaging |
Het |
| Trim8 |
T |
A |
19: 46,503,955 (GRCm39) |
Y502* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,773,473 (GRCm39) |
F54L |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,067 (GRCm39) |
L761Q |
probably damaging |
Het |
| Vps41 |
A |
T |
13: 18,994,616 (GRCm39) |
E154D |
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 |
|
|
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 |
|
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'- CTGGTTCATCATCTGGCAGC -3'
(R):5'- GATTAAATGTGGCCAGGCTGG -3'
Sequencing Primer
(F):5'- ATCTGGCAGCGGGGGTAG -3'
(R):5'- AGGCTGGCCTAGTACCAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation