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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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