Incidental Mutation 'R5422:Tbc1d17'
| ID |
426636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbc1d17
|
| Ensembl Gene |
ENSMUSG00000038520 |
| Gene Name |
TBC1 domain family, member 17 |
| Synonyms |
|
| MMRRC Submission |
042846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R5422 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44490200-44498503 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 44498292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047085]
[ENSMUST00000054343]
[ENSMUST00000107880]
[ENSMUST00000107882]
[ENSMUST00000107885]
[ENSMUST00000127783]
[ENSMUST00000145959]
[ENSMUST00000207293]
[ENSMUST00000207223]
[ENSMUST00000150335]
[ENSMUST00000136232]
[ENSMUST00000141311]
[ENSMUST00000207532]
[ENSMUST00000208384]
|
| AlphaFold |
Q8BYH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047085
AA Change: M1K
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: M1K
| 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 |
noncoding transcript
Transcript: ENSMUST00000130081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139947
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145959
AA Change: M1K
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: M1K
| 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 null
Transcript: ENSMUST00000207293
AA Change: M1K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152091
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149921
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207223
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153161
|
| 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: 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 null
Transcript: ENSMUST00000207532
AA Change: M1K
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208384
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208890
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,425,606 (GRCm39) |
S1219G |
probably benign |
Het |
| Adgrg5 |
T |
A |
8: 95,660,580 (GRCm39) |
I73N |
probably damaging |
Het |
| Agmat |
C |
A |
4: 141,483,144 (GRCm39) |
H193N |
probably damaging |
Het |
| Ambn |
T |
C |
5: 88,612,370 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,366,644 (GRCm39) |
C803S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,928,507 (GRCm39) |
R109S |
probably benign |
Het |
| Btnl6 |
C |
T |
17: 34,733,081 (GRCm39) |
G261R |
possibly damaging |
Het |
| Clk3 |
A |
G |
9: 57,672,721 (GRCm39) |
V27A |
probably benign |
Het |
| Clu |
A |
G |
14: 66,213,051 (GRCm39) |
S146G |
probably damaging |
Het |
| Cyp2w1 |
T |
C |
5: 139,338,528 (GRCm39) |
F43L |
probably benign |
Het |
| Elf3 |
C |
T |
1: 135,182,778 (GRCm39) |
E316K |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,479,349 (GRCm39) |
D218E |
probably damaging |
Het |
| Ereg |
T |
C |
5: 91,222,666 (GRCm39) |
|
probably null |
Het |
| Ewsr1 |
A |
G |
11: 5,030,668 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,941,394 (GRCm39) |
I96V |
possibly damaging |
Het |
| Fgl2 |
T |
G |
5: 21,580,808 (GRCm39) |
N383K |
probably damaging |
Het |
| Fkbp11 |
A |
T |
15: 98,625,989 (GRCm39) |
|
probably null |
Het |
| Fn3k |
C |
A |
11: 121,340,948 (GRCm39) |
P201Q |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,812,572 (GRCm39) |
I2964V |
probably benign |
Het |
| Gbx1 |
C |
T |
5: 24,709,667 (GRCm39) |
V393I |
possibly damaging |
Het |
| Gch1 |
C |
T |
14: 47,394,906 (GRCm39) |
A187T |
probably damaging |
Het |
| Ghdc |
C |
A |
11: 100,660,020 (GRCm39) |
K242N |
probably benign |
Het |
| Ghrhr |
A |
G |
6: 55,365,188 (GRCm39) |
H394R |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
| Hnrnpa2b1 |
A |
T |
6: 51,442,208 (GRCm39) |
S236R |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,001 (GRCm39) |
Y66H |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,813,954 (GRCm39) |
|
probably null |
Het |
| Magi3 |
C |
T |
3: 103,958,684 (GRCm39) |
C467Y |
probably damaging |
Het |
| Map7 |
G |
T |
10: 20,142,512 (GRCm39) |
V303F |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,030,488 (GRCm39) |
L135P |
probably damaging |
Het |
| Mapkapk5 |
T |
A |
5: 121,669,785 (GRCm39) |
|
probably null |
Het |
| Myh7b |
A |
C |
2: 155,472,954 (GRCm39) |
Q1405P |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,752,777 (GRCm39) |
I328N |
probably damaging |
Het |
| Nprl2 |
C |
A |
9: 107,420,796 (GRCm39) |
R144S |
probably benign |
Het |
| Ogfr |
G |
T |
2: 180,237,067 (GRCm39) |
D551Y |
possibly damaging |
Het |
| Ogfr |
A |
T |
2: 180,237,068 (GRCm39) |
D551V |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,305 (GRCm39) |
V126E |
probably damaging |
Het |
| Or8c10 |
A |
T |
9: 38,279,270 (GRCm39) |
T143S |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,686,545 (GRCm39) |
K101E |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,920 (GRCm39) |
T627S |
probably damaging |
Het |
| Pdzrn4 |
G |
A |
15: 92,575,502 (GRCm39) |
G303S |
probably benign |
Het |
| Plcl1 |
A |
T |
1: 55,736,543 (GRCm39) |
Y628F |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,940,441 (GRCm39) |
W194R |
probably damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,573,102 (GRCm39) |
M474K |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,065,095 (GRCm39) |
F370Y |
probably damaging |
Het |
| Rassf5 |
C |
A |
1: 131,108,911 (GRCm39) |
R218L |
possibly damaging |
Het |
| Scart1 |
A |
T |
7: 139,804,068 (GRCm39) |
H422L |
probably benign |
Het |
| Serpine2 |
C |
A |
1: 79,794,592 (GRCm39) |
V114L |
probably benign |
Het |
| Serpine2 |
T |
C |
1: 79,799,206 (GRCm39) |
Y16C |
probably benign |
Het |
| Sgms1 |
G |
T |
19: 32,137,232 (GRCm39) |
N111K |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,776,320 (GRCm39) |
H403Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,512 (GRCm39) |
I678T |
probably damaging |
Het |
| Thsd7b |
T |
C |
1: 129,849,071 (GRCm39) |
S928P |
probably benign |
Het |
| Tjp1 |
A |
T |
7: 64,952,715 (GRCm39) |
F1540I |
probably damaging |
Het |
| Tph2 |
T |
A |
10: 114,915,669 (GRCm39) |
D457V |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,314,676 (GRCm39) |
I2112V |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,749,650 (GRCm39) |
K249R |
probably damaging |
Het |
| Zfp54 |
C |
A |
17: 21,654,788 (GRCm39) |
S427R |
probably benign |
Het |
| Zfp607b |
A |
G |
7: 27,401,813 (GRCm39) |
T90A |
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 |
|
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'- TAGAGCCCCTGACTGACAAG -3'
(R):5'- GTTCTACACCTCGTGACCTATG -3'
Sequencing Primer
(F):5'- AGGCTCTCCCTAAGGACTG -3'
(R):5'- GTGACCTATGTCTTCGAGTTTCTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation