Incidental Mutation 'R4434:Zfand2b'
ID 328730
Institutional Source Beutler Lab
Gene Symbol Zfand2b
Ensembl Gene ENSMUSG00000026197
Gene Name zinc finger, AN1 type domain 2B
Synonyms 1110060O18Rik
MMRRC Submission 041148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4434 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 75145290-75148270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75147330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 197 (S197G)
Ref Sequence ENSEMBL: ENSMUSP00000124552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000162768] [ENSMUST00000161215]
AlphaFold Q91X58
Predicted Effect possibly damaging
Transcript: ENSMUST00000027394
AA Change: S197G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
AA Change: S197G

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 possibly damaging
Transcript: ENSMUST00000160439
AA Change: S197G

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
AA Change: S197G

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 noncoding transcript
Transcript: ENSMUST00000161106
Predicted Effect possibly damaging
Transcript: ENSMUST00000162768
AA Change: S197G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
AA Change: S197G

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 unknown
Transcript: ENSMUST00000186227
AA Change: S190G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160757
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,781,253 (GRCm39) Q907L probably null Het
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
AI597479 C T 1: 43,139,959 (GRCm39) Q62* probably null Het
Akap9 T A 5: 4,082,708 (GRCm39) M1944K probably damaging Het
Akr1c19 T C 13: 4,292,615 (GRCm39) V212A probably benign Het
Ank3 C T 10: 69,822,900 (GRCm39) S523L probably damaging Het
Antxrl G A 14: 33,793,574 (GRCm39) probably benign Het
Arhgap21 A G 2: 20,972,146 (GRCm39) C26R probably benign Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Dnah7c G A 1: 46,705,442 (GRCm39) R2485H probably damaging Het
Dnah9 T A 11: 65,998,901 (GRCm39) N1049I possibly damaging Het
Dnaja3 T G 16: 4,507,859 (GRCm39) Y120* probably null Het
Ehbp1l1 G T 19: 5,766,276 (GRCm39) R412S possibly damaging Het
Fam169a A G 13: 97,263,248 (GRCm39) D567G probably damaging Het
Gcnt4 T A 13: 97,082,850 (GRCm39) Y49N probably benign Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gngt1 A G 6: 3,994,282 (GRCm39) D20G probably benign Het
Gnptab A G 10: 88,248,484 (GRCm39) N104S probably damaging Het
Gpn3 A G 5: 122,520,115 (GRCm39) D223G probably benign Het
Hectd1 A T 12: 51,798,835 (GRCm39) I2095K probably damaging Het
Hephl1 C T 9: 14,988,092 (GRCm39) R672H probably damaging Het
Hpse2 A G 19: 43,282,708 (GRCm39) S182P probably benign Het
Itgb4 T A 11: 115,890,640 (GRCm39) S1109R probably benign Het
Itgbl1 A T 14: 124,209,611 (GRCm39) D330V probably damaging Het
Krt77 A T 15: 101,773,904 (GRCm39) V250E probably damaging Het
Mycbp2 T A 14: 103,371,225 (GRCm39) N4108Y probably damaging Het
Nampt T C 12: 32,888,362 (GRCm39) I171T probably damaging Het
Nckap5l A C 15: 99,320,744 (GRCm39) S1270A probably benign Het
Opa1 A G 16: 29,430,801 (GRCm39) I500M probably damaging Het
Or10j5 C T 1: 172,785,111 (GRCm39) H250Y probably damaging Het
Pax8 G A 2: 24,319,621 (GRCm39) P350L possibly damaging Het
Plxnb2 A G 15: 89,047,006 (GRCm39) C772R probably damaging Het
Prh1 A T 6: 132,548,841 (GRCm39) H116L unknown Het
Rgsl1 C T 1: 153,678,087 (GRCm39) A114T possibly damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Scube1 A T 15: 83,606,125 (GRCm39) I49N probably damaging Het
Shank3 C A 15: 89,387,562 (GRCm39) L244I probably damaging Het
Shc3 T C 13: 51,603,302 (GRCm39) T268A probably benign Het
Sp7 A G 15: 102,267,536 (GRCm39) L90P probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tacstd2 A G 6: 67,512,128 (GRCm39) V188A possibly damaging Het
Tasor G A 14: 27,171,818 (GRCm39) probably null Het
Tex26 T C 5: 149,376,820 (GRCm39) S70P probably benign Het
Tmc4 C T 7: 3,675,006 (GRCm39) V222M probably benign Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Trim65 G A 11: 116,018,435 (GRCm39) Q253* probably null Het
Tuba3a A T 6: 125,258,506 (GRCm39) Y161* probably null Het
Zfp109 T A 7: 23,928,771 (GRCm39) T213S probably benign Het
Zfp985 A C 4: 147,668,368 (GRCm39) D412A probably benign Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S probably benign 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
R5074:Zfand2b UTSW 1 75,147,634 (GRCm39) missense probably benign 0.00
R5765:Zfand2b UTSW 1 75,147,171 (GRCm39) splice site probably null
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'- ACACTTCTGACCACAGCCTG -3'
(R):5'- GTACTTTAGAGTGTGACCTCCATC -3'

Sequencing Primer
(F):5'- GACCACAGCCTGTTTTAATGTC -3'
(R):5'- AGAGTGTGACCTCCATCTTTAC -3'
Posted On 2015-07-21