Incidental Mutation 'R5765:Zfand2b'
ID |
446208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfand2b
|
Ensembl Gene |
ENSMUSG00000026197 |
Gene Name |
zinc finger, AN1 type domain 2B |
Synonyms |
1110060O18Rik |
MMRRC Submission |
043366-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R5765 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
75145290-75148270 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 75147171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027394]
[ENSMUST00000027394]
[ENSMUST00000027396]
[ENSMUST00000160439]
[ENSMUST00000160439]
[ENSMUST00000160439]
[ENSMUST00000160439]
[ENSMUST00000162768]
[ENSMUST00000162768]
[ENSMUST00000161215]
|
AlphaFold |
Q91X58 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027394
|
SMART Domains |
Protein: ENSMUSP00000027394 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000027394
|
SMART Domains |
Protein: ENSMUSP00000027394 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027396
|
SMART Domains |
Protein: ENSMUSP00000027396 Gene: ENSMUSG00000026198
Domain | Start | End | E-Value | Type |
Pfam:MTABC_N
|
6 |
255 |
7.8e-80 |
PFAM |
Pfam:ABC_membrane
|
265 |
544 |
3.7e-34 |
PFAM |
AAA
|
615 |
816 |
1.29e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159219
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160282
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160439
|
SMART Domains |
Protein: ENSMUSP00000125086 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160439
|
SMART Domains |
Protein: ENSMUSP00000125086 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160439
|
SMART Domains |
Protein: ENSMUSP00000125086 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000160439
|
SMART Domains |
Protein: ENSMUSP00000125086 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
UIM
|
221 |
240 |
1.26e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162768
|
SMART Domains |
Protein: ENSMUSP00000124552 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162768
|
SMART Domains |
Protein: ENSMUSP00000124552 Gene: ENSMUSG00000026197
Domain | Start | End | E-Value | Type |
ZnF_AN1
|
10 |
49 |
2e-4 |
SMART |
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
ZnF_AN1
|
100 |
139 |
6.69e-3 |
SMART |
low complexity region
|
155 |
179 |
N/A |
INTRINSIC |
UIM
|
197 |
216 |
1.3e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186227
|
Predicted Effect |
probably null
Transcript: ENSMUST00000186227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185727
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161657
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161215
|
SMART Domains |
Protein: ENSMUSP00000124630 Gene: ENSMUSG00000026198
Domain | Start | End | E-Value | Type |
SCOP:d1jj7a_
|
5 |
78 |
8e-23 |
SMART |
Blast:AAA
|
23 |
71 |
9e-25 |
BLAST |
PDB:3NHB|A
|
23 |
94 |
3e-36 |
PDB |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
94% (51/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
A |
T |
11: 65,044,066 (GRCm39) |
|
probably benign |
Het |
Abcf2 |
T |
C |
5: 24,778,421 (GRCm39) |
R246G |
probably damaging |
Het |
Adamts19 |
G |
T |
18: 59,185,654 (GRCm39) |
C1176F |
probably damaging |
Het |
Adh7 |
G |
A |
3: 137,932,090 (GRCm39) |
V235I |
probably benign |
Het |
Aoc1l1 |
C |
T |
6: 48,955,471 (GRCm39) |
P694S |
probably damaging |
Het |
Caprin2 |
G |
C |
6: 148,744,666 (GRCm39) |
P701A |
probably damaging |
Het |
Casp7 |
T |
C |
19: 56,422,315 (GRCm39) |
V110A |
possibly damaging |
Het |
Cd1d2 |
A |
T |
3: 86,894,549 (GRCm39) |
M106L |
probably benign |
Het |
Cntnap2 |
C |
T |
6: 46,506,749 (GRCm39) |
|
probably benign |
Het |
Cpm |
A |
G |
10: 117,507,638 (GRCm39) |
I252V |
probably benign |
Het |
Dnaaf2 |
A |
C |
12: 69,239,627 (GRCm39) |
I631M |
probably damaging |
Het |
Fads2b |
T |
G |
2: 85,314,538 (GRCm39) |
|
probably null |
Het |
Fam117b |
A |
G |
1: 60,009,631 (GRCm39) |
|
probably null |
Het |
Fbxw22 |
T |
C |
9: 109,214,064 (GRCm39) |
M251V |
probably benign |
Het |
Fignl1 |
T |
C |
11: 11,752,011 (GRCm39) |
|
probably null |
Het |
Foxp1 |
G |
A |
6: 98,992,423 (GRCm39) |
L156F |
probably damaging |
Het |
Gdap1 |
A |
T |
1: 17,231,650 (GRCm39) |
M332L |
probably benign |
Het |
H2-M3 |
T |
C |
17: 37,583,334 (GRCm39) |
F265S |
probably damaging |
Het |
Il1rl1 |
C |
T |
1: 40,501,103 (GRCm39) |
A493V |
probably benign |
Het |
Iqce |
A |
G |
5: 140,651,895 (GRCm39) |
S359P |
probably damaging |
Het |
Kif2b |
C |
T |
11: 91,468,068 (GRCm39) |
E72K |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,268,340 (GRCm39) |
S188P |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
Mocs2 |
A |
G |
13: 114,962,692 (GRCm39) |
|
probably null |
Het |
Mtnr1b |
T |
C |
9: 15,774,459 (GRCm39) |
Y200C |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,702,138 (GRCm39) |
V458I |
possibly damaging |
Het |
Nbea |
C |
T |
3: 55,912,719 (GRCm39) |
V1023I |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,331,006 (GRCm39) |
V2205D |
probably damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,434,226 (GRCm39) |
D262G |
probably damaging |
Het |
Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
Pcdhac1 |
A |
T |
18: 37,223,372 (GRCm39) |
R62* |
probably null |
Het |
Pcdhga1 |
A |
G |
18: 37,796,714 (GRCm39) |
T573A |
probably benign |
Het |
Plin4 |
C |
T |
17: 56,409,470 (GRCm39) |
C1276Y |
possibly damaging |
Het |
Ppp6r1 |
C |
A |
7: 4,645,207 (GRCm39) |
R220L |
possibly damaging |
Het |
Ptprz1 |
T |
G |
6: 23,000,235 (GRCm39) |
V775G |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,275,249 (GRCm39) |
T103A |
possibly damaging |
Het |
Spock1 |
A |
T |
13: 57,577,217 (GRCm39) |
L404Q |
probably benign |
Het |
Stradb |
C |
A |
1: 59,031,903 (GRCm39) |
H272N |
probably benign |
Het |
Strn3 |
A |
G |
12: 51,680,410 (GRCm39) |
S397P |
probably benign |
Het |
Synpo2l |
C |
T |
14: 20,716,198 (GRCm39) |
R126H |
possibly damaging |
Het |
Tas2r104 |
A |
G |
6: 131,662,236 (GRCm39) |
Y158H |
probably benign |
Het |
Tiparp |
T |
A |
3: 65,438,771 (GRCm39) |
I29N |
possibly damaging |
Het |
Tnpo1 |
G |
A |
13: 98,996,349 (GRCm39) |
T484M |
probably benign |
Het |
Tsc22d4 |
A |
G |
5: 137,756,805 (GRCm39) |
I78V |
probably benign |
Het |
Ugt2b1 |
T |
C |
5: 87,067,265 (GRCm39) |
Y386C |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
Vmn2r116 |
G |
A |
17: 23,620,378 (GRCm39) |
C704Y |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,167,442 (GRCm39) |
Y565* |
probably null |
Het |
Zzef1 |
C |
T |
11: 72,712,763 (GRCm39) |
Q228* |
probably null |
Het |
|
Other mutations in Zfand2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4468001:Zfand2b
|
UTSW |
1 |
75,146,476 (GRCm39) |
missense |
probably benign |
|
R3724:Zfand2b
|
UTSW |
1 |
75,146,499 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4210:Zfand2b
|
UTSW |
1 |
75,146,454 (GRCm39) |
missense |
probably benign |
0.01 |
R4211:Zfand2b
|
UTSW |
1 |
75,146,454 (GRCm39) |
missense |
probably benign |
0.01 |
R4434:Zfand2b
|
UTSW |
1 |
75,147,330 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5074:Zfand2b
|
UTSW |
1 |
75,147,634 (GRCm39) |
missense |
probably benign |
0.00 |
R5878:Zfand2b
|
UTSW |
1 |
75,147,154 (GRCm39) |
intron |
probably benign |
|
R7736:Zfand2b
|
UTSW |
1 |
75,146,176 (GRCm39) |
missense |
probably null |
0.83 |
R7826:Zfand2b
|
UTSW |
1 |
75,145,502 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8116:Zfand2b
|
UTSW |
1 |
75,145,504 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGAAATTACTGACTACCCTCC -3'
(R):5'- CATCCTCACTCTGCAAAAGGAG -3'
Sequencing Primer
(F):5'- TGACACCCAAAGCCTGTG -3'
(R):5'- GAGACAGAAAGACCAGTCTCCCTG -3'
|
Posted On |
2016-11-21 |