Incidental Mutation 'IGL02993:Zbtb25'
| ID |
407036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb25
|
| Ensembl Gene |
ENSMUSG00000056459 |
| Gene Name |
zinc finger and BTB domain containing 25 |
| Synonyms |
Kup, 2810462M08Rik, Zfp50, Zfp-50, 2900064P18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
76394556-76416376 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76396191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 344
(N344Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167011]
[ENSMUST00000176102]
[ENSMUST00000176187]
[ENSMUST00000176278]
[ENSMUST00000176509]
[ENSMUST00000176967]
|
| AlphaFold |
G3UW50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167011
AA Change: N344Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128471
Gene: ENSMUSG00000056459
AA Change: N344Y
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
119 |
4.59e-15 |
SMART |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
239 |
261 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176102
AA Change: N344Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135853
Gene: ENSMUSG00000056459
AA Change: N344Y
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
119 |
4.59e-15 |
SMART |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
239 |
261 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176187
|
| SMART Domains |
Protein: ENSMUSP00000135458
Gene: ENSMUSG00000056459
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
119 |
4.59e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176278
AA Change: N344Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134748
Gene: ENSMUSG00000056459
AA Change: N344Y
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
119 |
4.59e-15 |
SMART |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
239 |
261 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176509
|
| SMART Domains |
Protein: ENSMUSP00000135817
Gene: ENSMUSG00000056459
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
14 |
65 |
1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176967
|
| SMART Domains |
Protein: ENSMUSP00000135434
Gene: ENSMUSG00000056459
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
99 |
1.06e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220077
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
C |
3: 121,567,659 (GRCm39) |
I434S |
probably benign |
Het |
| Actr2 |
C |
T |
11: 20,022,514 (GRCm39) |
R319Q |
probably damaging |
Het |
| Atp13a5 |
G |
T |
16: 29,112,322 (GRCm39) |
Y606* |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,469,056 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,227,396 (GRCm39) |
Y8C |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,043,707 (GRCm39) |
M411L |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,894,304 (GRCm39) |
|
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,722 (GRCm39) |
K94N |
probably benign |
Het |
| Ddx51 |
T |
C |
5: 110,803,487 (GRCm39) |
V323A |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,346,027 (GRCm39) |
V190I |
probably benign |
Het |
| Evc2 |
A |
G |
5: 37,576,501 (GRCm39) |
T1042A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,011,304 (GRCm39) |
S2135T |
probably damaging |
Het |
| Gpat2 |
T |
C |
2: 127,269,486 (GRCm39) |
F46S |
probably damaging |
Het |
| Klhl38 |
T |
A |
15: 58,185,851 (GRCm39) |
K293* |
probably null |
Het |
| Map4k4 |
T |
C |
1: 40,053,348 (GRCm39) |
I916T |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,333,965 (GRCm39) |
K964M |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,253,071 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
G |
4: 156,302,236 (GRCm39) |
Q260R |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,279,314 (GRCm39) |
N133K |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,876,486 (GRCm39) |
T537A |
probably benign |
Het |
| Slfn9 |
T |
C |
11: 82,872,022 (GRCm39) |
S905G |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,971,719 (GRCm39) |
Y351H |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,344,370 (GRCm39) |
T785I |
probably damaging |
Het |
| Stk16 |
C |
A |
1: 75,189,648 (GRCm39) |
Q69K |
probably damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,446 (GRCm39) |
L491P |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tcp11 |
T |
C |
17: 28,289,490 (GRCm39) |
N194D |
probably damaging |
Het |
| Trio |
C |
A |
15: 27,830,325 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,069,850 (GRCm39) |
V297A |
possibly damaging |
Het |
| Ugt2b5 |
T |
G |
5: 87,285,091 (GRCm39) |
H282P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,727,492 (GRCm39) |
M1030T |
probably damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,965 (GRCm39) |
I293N |
probably damaging |
Het |
| Vmn2r57 |
T |
A |
7: 41,077,498 (GRCm39) |
T223S |
probably benign |
Het |
| Wdr20 |
G |
T |
12: 110,760,742 (GRCm39) |
E543* |
probably null |
Het |
| Zcchc2 |
T |
C |
1: 105,957,898 (GRCm39) |
F790L |
probably damaging |
Het |
|
| Other mutations in Zbtb25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02321:Zbtb25
|
APN |
12 |
76,396,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1298:Zbtb25
|
UTSW |
12 |
76,396,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1851:Zbtb25
|
UTSW |
12 |
76,396,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Zbtb25
|
UTSW |
12 |
76,396,075 (GRCm39) |
nonsense |
probably null |
|
|
R2108:Zbtb25
|
UTSW |
12 |
76,396,880 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2209:Zbtb25
|
UTSW |
12 |
76,395,903 (GRCm39) |
makesense |
probably null |
|
|
R5400:Zbtb25
|
UTSW |
12 |
76,396,476 (GRCm39) |
nonsense |
probably null |
|
|
R5579:Zbtb25
|
UTSW |
12 |
76,395,938 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7570:Zbtb25
|
UTSW |
12 |
76,416,366 (GRCm39) |
unclassified |
probably benign |
|
|
R8086:Zbtb25
|
UTSW |
12 |
76,395,923 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8910:Zbtb25
|
UTSW |
12 |
76,395,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8965:Zbtb25
|
UTSW |
12 |
76,396,577 (GRCm39) |
missense |
probably benign |
0.04 |
|
U24488:Zbtb25
|
UTSW |
12 |
76,396,014 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Zbtb25
|
UTSW |
12 |
76,396,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation