Incidental Mutation 'IGL00594:Tbccd1'
ID |
3992 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tbccd1
|
Ensembl Gene |
ENSMUSG00000004462 |
Gene Name |
TBCC domain containing 1 |
Synonyms |
5730478M09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00594
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
22631964-22676419 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 22641294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 361
(F361S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004576]
[ENSMUST00000232075]
[ENSMUST00000232251]
[ENSMUST00000232345]
|
AlphaFold |
Q640P7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004576
AA Change: F361S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000004576 Gene: ENSMUSG00000004462 AA Change: F361S
Domain | Start | End | E-Value | Type |
low complexity region
|
118 |
129 |
N/A |
INTRINSIC |
low complexity region
|
144 |
160 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
CARP
|
337 |
374 |
5.55e-5 |
SMART |
CARP
|
375 |
409 |
8.75e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231229
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232075
AA Change: F361S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232251
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232345
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232555
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232681
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,109 (GRCm39) |
T154A |
probably benign |
Het |
Acox1 |
A |
G |
11: 116,065,331 (GRCm39) |
|
probably benign |
Het |
Adgrg2 |
G |
A |
X: 159,268,773 (GRCm39) |
V677I |
probably benign |
Het |
Aifm1 |
T |
C |
X: 47,570,976 (GRCm39) |
T386A |
probably benign |
Het |
Aspm |
T |
C |
1: 139,415,160 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
A |
G |
7: 129,830,453 (GRCm39) |
V175A |
probably damaging |
Het |
Gm382 |
T |
C |
X: 125,970,775 (GRCm39) |
Y987H |
probably benign |
Het |
Golga3 |
A |
T |
5: 110,352,841 (GRCm39) |
M911L |
probably benign |
Het |
Hmgxb3 |
A |
G |
18: 61,290,811 (GRCm39) |
V354A |
probably benign |
Het |
Ifne |
T |
C |
4: 88,798,041 (GRCm39) |
N126D |
probably benign |
Het |
Igkv3-7 |
T |
C |
6: 70,584,807 (GRCm39) |
V49A |
possibly damaging |
Het |
Kbtbd8 |
A |
T |
6: 95,103,494 (GRCm39) |
Y381F |
probably damaging |
Het |
Klc1 |
C |
T |
12: 111,743,318 (GRCm39) |
T215M |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,316,624 (GRCm39) |
V2119E |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,892,647 (GRCm39) |
V322A |
probably benign |
Het |
Mageb5b |
C |
T |
X: 90,679,091 (GRCm39) |
Q348* |
probably null |
Het |
Ms4a14 |
A |
G |
19: 11,278,983 (GRCm39) |
S1192P |
possibly damaging |
Het |
Ndufaf6 |
T |
C |
4: 11,062,127 (GRCm39) |
Y168C |
probably damaging |
Het |
Plcg2 |
C |
T |
8: 118,282,810 (GRCm39) |
T97I |
possibly damaging |
Het |
Rasgrp4 |
T |
C |
7: 28,847,966 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,083,777 (GRCm39) |
H515R |
probably benign |
Het |
Rpn1 |
G |
T |
6: 88,072,611 (GRCm39) |
R318L |
probably damaging |
Het |
Shroom2 |
A |
T |
X: 151,396,512 (GRCm39) |
F1359Y |
probably damaging |
Het |
Tars3 |
T |
A |
7: 65,325,880 (GRCm39) |
|
probably null |
Het |
Tbc1d12 |
A |
G |
19: 38,884,487 (GRCm39) |
E346G |
possibly damaging |
Het |
Tenm1 |
G |
T |
X: 41,803,913 (GRCm39) |
P837T |
probably benign |
Het |
Tmem144 |
A |
G |
3: 79,746,474 (GRCm39) |
V27A |
probably benign |
Het |
Zfp616 |
T |
A |
11: 73,973,789 (GRCm39) |
N19K |
possibly damaging |
Het |
Zkscan7 |
T |
C |
9: 122,724,659 (GRCm39) |
Y543H |
possibly damaging |
Het |
|
Other mutations in Tbccd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4243001:Tbccd1
|
UTSW |
16 |
22,641,087 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4402001:Tbccd1
|
UTSW |
16 |
22,640,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Tbccd1
|
UTSW |
16 |
22,660,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Tbccd1
|
UTSW |
16 |
22,644,844 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0894:Tbccd1
|
UTSW |
16 |
22,640,995 (GRCm39) |
missense |
probably benign |
0.27 |
R1183:Tbccd1
|
UTSW |
16 |
22,660,519 (GRCm39) |
missense |
probably benign |
0.01 |
R1795:Tbccd1
|
UTSW |
16 |
22,640,995 (GRCm39) |
missense |
probably benign |
0.27 |
R1813:Tbccd1
|
UTSW |
16 |
22,641,271 (GRCm39) |
missense |
probably benign |
|
R2049:Tbccd1
|
UTSW |
16 |
22,637,291 (GRCm39) |
splice site |
probably null |
|
R2131:Tbccd1
|
UTSW |
16 |
22,660,739 (GRCm39) |
missense |
probably benign |
0.00 |
R3964:Tbccd1
|
UTSW |
16 |
22,660,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R4201:Tbccd1
|
UTSW |
16 |
22,644,698 (GRCm39) |
missense |
probably damaging |
0.96 |
R4602:Tbccd1
|
UTSW |
16 |
22,637,285 (GRCm39) |
splice site |
probably null |
|
R4921:Tbccd1
|
UTSW |
16 |
22,660,649 (GRCm39) |
missense |
probably benign |
0.02 |
R6493:Tbccd1
|
UTSW |
16 |
22,641,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6554:Tbccd1
|
UTSW |
16 |
22,640,874 (GRCm39) |
missense |
probably damaging |
0.99 |
R6663:Tbccd1
|
UTSW |
16 |
22,652,778 (GRCm39) |
frame shift |
probably null |
|
R7220:Tbccd1
|
UTSW |
16 |
22,652,747 (GRCm39) |
missense |
probably benign |
0.21 |
R7431:Tbccd1
|
UTSW |
16 |
22,644,563 (GRCm39) |
missense |
probably benign |
0.03 |
R8090:Tbccd1
|
UTSW |
16 |
22,660,805 (GRCm39) |
missense |
probably benign |
0.00 |
R8186:Tbccd1
|
UTSW |
16 |
22,637,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R8315:Tbccd1
|
UTSW |
16 |
22,641,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R8545:Tbccd1
|
UTSW |
16 |
22,652,779 (GRCm39) |
missense |
probably benign |
0.09 |
R8688:Tbccd1
|
UTSW |
16 |
22,641,208 (GRCm39) |
missense |
possibly damaging |
0.54 |
R9522:Tbccd1
|
UTSW |
16 |
22,641,249 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9775:Tbccd1
|
UTSW |
16 |
22,652,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |