Incidental Mutation 'IGL03172:Zbtb5'
ID |
411887 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb5
|
Ensembl Gene |
ENSMUSG00000049657 |
Gene Name |
zinc finger and BTB domain containing 5 |
Synonyms |
9430083K24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03172
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
44991242-45012412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44994003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 460
(H460Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045078]
[ENSMUST00000055028]
[ENSMUST00000107817]
[ENSMUST00000131991]
[ENSMUST00000151148]
[ENSMUST00000180217]
|
AlphaFold |
Q7TQG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045078
|
SMART Domains |
Protein: ENSMUSP00000047218 Gene: ENSMUSG00000035637
Domain | Start | End | E-Value | Type |
Pfam:2-Hacid_dh
|
9 |
327 |
1.4e-28 |
PFAM |
Pfam:2-Hacid_dh_C
|
116 |
295 |
1.3e-59 |
PFAM |
Pfam:NAD_binding_2
|
153 |
272 |
3.4e-8 |
PFAM |
Pfam:F420_oxidored
|
155 |
244 |
3.2e-6 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055028
AA Change: H460Q
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000059919 Gene: ENSMUSG00000049657 AA Change: H460Q
Domain | Start | End | E-Value | Type |
BTB
|
24 |
123 |
1.06e-28 |
SMART |
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107817
AA Change: H460Q
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103447 Gene: ENSMUSG00000049657 AA Change: H460Q
Domain | Start | End | E-Value | Type |
BTB
|
24 |
123 |
1.06e-28 |
SMART |
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131991
|
SMART Domains |
Protein: ENSMUSP00000122991 Gene: ENSMUSG00000049657
Domain | Start | End | E-Value | Type |
BTB
|
24 |
123 |
1.06e-28 |
SMART |
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151148
|
SMART Domains |
Protein: ENSMUSP00000120254 Gene: ENSMUSG00000035637
Domain | Start | End | E-Value | Type |
Pfam:2-Hacid_dh
|
10 |
207 |
4.5e-15 |
PFAM |
Pfam:2-Hacid_dh_C
|
63 |
222 |
2.2e-51 |
PFAM |
Pfam:NAD_binding_2
|
100 |
219 |
3.3e-9 |
PFAM |
Pfam:F420_oxidored
|
102 |
191 |
5.4e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180217
AA Change: H460Q
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136507 Gene: ENSMUSG00000049657 AA Change: H460Q
Domain | Start | End | E-Value | Type |
BTB
|
24 |
123 |
1.06e-28 |
SMART |
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,839,003 (GRCm39) |
H528R |
probably damaging |
Het |
A530053G22Rik |
A |
T |
6: 60,379,047 (GRCm39) |
|
noncoding transcript |
Het |
Aagab |
A |
G |
9: 63,542,676 (GRCm39) |
|
probably benign |
Het |
Aknad1 |
A |
T |
3: 108,688,519 (GRCm39) |
I616F |
possibly damaging |
Het |
Ap2a1 |
A |
C |
7: 44,553,479 (GRCm39) |
D629E |
probably benign |
Het |
Apc2 |
C |
A |
10: 80,149,220 (GRCm39) |
Q1425K |
probably damaging |
Het |
Asf1b |
A |
C |
8: 84,694,542 (GRCm39) |
H102P |
probably benign |
Het |
Celf6 |
C |
T |
9: 59,489,565 (GRCm39) |
A90V |
probably damaging |
Het |
Chrna2 |
A |
T |
14: 66,379,688 (GRCm39) |
Q9L |
probably benign |
Het |
Csnk1g3 |
A |
G |
18: 54,086,356 (GRCm39) |
I420M |
possibly damaging |
Het |
Eml3 |
T |
C |
19: 8,916,543 (GRCm39) |
|
probably benign |
Het |
Epn3 |
T |
C |
11: 94,382,456 (GRCm39) |
N508S |
possibly damaging |
Het |
Fam120a |
T |
C |
13: 49,063,812 (GRCm39) |
Y608C |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,162,888 (GRCm39) |
C2133G |
possibly damaging |
Het |
Fhl5 |
A |
G |
4: 25,211,309 (GRCm39) |
F128L |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,680,421 (GRCm39) |
N428S |
probably damaging |
Het |
Fxr2 |
T |
C |
11: 69,540,665 (GRCm39) |
|
probably null |
Het |
Gabrp |
T |
C |
11: 33,504,388 (GRCm39) |
Y309C |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,182,168 (GRCm39) |
I50V |
probably benign |
Het |
Ifi203 |
C |
T |
1: 173,764,158 (GRCm39) |
G105R |
possibly damaging |
Het |
Itgav |
A |
T |
2: 83,596,190 (GRCm39) |
Q201L |
possibly damaging |
Het |
Jade2 |
T |
C |
11: 51,716,198 (GRCm39) |
T336A |
probably damaging |
Het |
Kdm4b |
A |
G |
17: 56,708,649 (GRCm39) |
D996G |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,903,797 (GRCm39) |
I557T |
probably benign |
Het |
Memo1 |
A |
C |
17: 74,551,996 (GRCm39) |
L100R |
probably damaging |
Het |
Mrps2 |
A |
G |
2: 28,359,818 (GRCm39) |
N225S |
probably damaging |
Het |
Ndufa2 |
A |
G |
18: 36,877,278 (GRCm39) |
|
probably null |
Het |
Or2g7 |
G |
T |
17: 38,378,275 (GRCm39) |
C71F |
probably damaging |
Het |
Or7g19 |
G |
A |
9: 18,856,757 (GRCm39) |
S271N |
probably benign |
Het |
Pak5 |
G |
T |
2: 135,940,310 (GRCm39) |
Y501* |
probably null |
Het |
Pot1b |
A |
T |
17: 56,002,206 (GRCm39) |
F123I |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,700,786 (GRCm39) |
V1761A |
probably benign |
Het |
Samd3 |
T |
A |
10: 26,106,064 (GRCm39) |
V14E |
probably damaging |
Het |
Slc4a8 |
G |
A |
15: 100,697,598 (GRCm39) |
A605T |
probably benign |
Het |
Smgc |
A |
T |
15: 91,744,642 (GRCm39) |
D333V |
probably damaging |
Het |
Spata4 |
A |
G |
8: 55,055,440 (GRCm39) |
I147V |
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,495 (GRCm39) |
H606Y |
probably benign |
Het |
Vsig8 |
A |
G |
1: 172,387,916 (GRCm39) |
N2S |
probably damaging |
Het |
Wdr17 |
A |
C |
8: 55,114,515 (GRCm39) |
I667R |
probably damaging |
Het |
Yif1b |
A |
G |
7: 28,937,873 (GRCm39) |
|
probably null |
Het |
Zdhhc21 |
G |
A |
4: 82,724,564 (GRCm39) |
|
probably benign |
Het |
Zfp944 |
A |
T |
17: 22,559,018 (GRCm39) |
H76Q |
probably damaging |
Het |
Zkscan1 |
A |
G |
5: 138,092,264 (GRCm39) |
Q146R |
probably benign |
Het |
|
Other mutations in Zbtb5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01995:Zbtb5
|
APN |
4 |
44,995,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02516:Zbtb5
|
APN |
4 |
44,993,798 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02525:Zbtb5
|
APN |
4 |
44,994,731 (GRCm39) |
missense |
probably benign |
|
IGL03205:Zbtb5
|
APN |
4 |
44,994,949 (GRCm39) |
missense |
probably damaging |
0.96 |
madeleine
|
UTSW |
4 |
44,994,863 (GRCm39) |
splice site |
probably null |
|
R0681:Zbtb5
|
UTSW |
4 |
44,993,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R1426:Zbtb5
|
UTSW |
4 |
44,993,968 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1577:Zbtb5
|
UTSW |
4 |
44,995,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R1608:Zbtb5
|
UTSW |
4 |
44,993,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Zbtb5
|
UTSW |
4 |
44,993,767 (GRCm39) |
missense |
probably benign |
0.20 |
R2919:Zbtb5
|
UTSW |
4 |
44,994,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R3722:Zbtb5
|
UTSW |
4 |
44,994,863 (GRCm39) |
splice site |
probably null |
|
R4222:Zbtb5
|
UTSW |
4 |
44,993,855 (GRCm39) |
splice site |
probably null |
|
R5217:Zbtb5
|
UTSW |
4 |
44,993,990 (GRCm39) |
missense |
probably benign |
|
R5326:Zbtb5
|
UTSW |
4 |
44,995,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R5493:Zbtb5
|
UTSW |
4 |
44,993,941 (GRCm39) |
missense |
probably benign |
0.04 |
R5542:Zbtb5
|
UTSW |
4 |
44,995,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R5912:Zbtb5
|
UTSW |
4 |
44,993,750 (GRCm39) |
missense |
probably benign |
0.00 |
R6171:Zbtb5
|
UTSW |
4 |
44,994,119 (GRCm39) |
missense |
probably benign |
0.00 |
R6337:Zbtb5
|
UTSW |
4 |
44,993,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R6566:Zbtb5
|
UTSW |
4 |
44,994,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Zbtb5
|
UTSW |
4 |
44,994,905 (GRCm39) |
missense |
probably benign |
0.27 |
R7534:Zbtb5
|
UTSW |
4 |
44,995,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R7548:Zbtb5
|
UTSW |
4 |
44,994,724 (GRCm39) |
missense |
probably benign |
0.18 |
R7557:Zbtb5
|
UTSW |
4 |
44,995,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R7584:Zbtb5
|
UTSW |
4 |
44,993,678 (GRCm39) |
missense |
probably benign |
|
R7831:Zbtb5
|
UTSW |
4 |
44,995,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R8065:Zbtb5
|
UTSW |
4 |
44,994,972 (GRCm39) |
missense |
probably benign |
0.25 |
R8067:Zbtb5
|
UTSW |
4 |
44,994,972 (GRCm39) |
missense |
probably benign |
0.25 |
R8491:Zbtb5
|
UTSW |
4 |
44,995,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R8932:Zbtb5
|
UTSW |
4 |
44,993,962 (GRCm39) |
missense |
probably benign |
|
R9509:Zbtb5
|
UTSW |
4 |
44,994,332 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2016-08-02 |