Incidental Mutation 'PIT4468001:Zfand2b'
ID 555621
Institutional Source Beutler Lab
Gene Symbol Zfand2b
Ensembl Gene ENSMUSG00000026197
Gene Name zinc finger, AN1 type domain 2B
Synonyms 1110060O18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # PIT4468001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 75145290-75148270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75146476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 117 (R117L)
Ref Sequence ENSEMBL: ENSMUSP00000027394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000161215] [ENSMUST00000162768]
AlphaFold Q91X58
Predicted Effect probably benign
Transcript: ENSMUST00000027394
AA Change: R117L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
AA Change: R117L

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 probably benign
Transcript: ENSMUST00000160439
AA Change: R117L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
AA Change: R117L

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000162768
AA Change: R117L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
AA Change: R117L

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
Coding Region Coverage
  • 1x: 93.0%
  • 3x: 90.7%
  • 10x: 85.2%
  • 20x: 72.8%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik C T 14: 4,348,940 (GRCm38) L34F probably damaging Het
Alms1 T C 6: 85,601,701 (GRCm39) probably null Het
Arhgap15 C A 2: 44,133,143 (GRCm39) Q350K probably damaging Het
Bbs1 T A 19: 4,956,190 (GRCm39) H35L probably benign Het
Cep85 T C 4: 133,876,008 (GRCm39) N468S probably damaging Het
Chd8 T C 14: 52,455,338 (GRCm39) I1050V possibly damaging Het
Chd8 A C 14: 52,445,453 (GRCm39) D1709E probably benign Het
Clec9a G A 6: 129,396,597 (GRCm39) probably null Het
Cyp2c70 T A 19: 40,153,806 (GRCm39) D261V probably damaging Het
Deup1 T C 9: 15,475,301 (GRCm39) N420D possibly damaging Het
Dpys T A 15: 39,720,601 (GRCm39) D53V probably damaging Het
Edem1 A G 6: 108,821,828 (GRCm39) E295G probably damaging Het
Farp2 G T 1: 93,456,499 (GRCm39) E61* probably null Het
Fat3 T G 9: 15,907,647 (GRCm39) D2785A probably benign Het
Fbxo30 T A 10: 11,166,700 (GRCm39) M474K possibly damaging Het
Gm13090 C A 4: 151,175,539 (GRCm39) P93Q unknown Het
Gm21976 A T 13: 98,443,535 (GRCm39) R229* probably null Het
Gpr108 A T 17: 57,554,563 (GRCm39) L25Q probably null Het
Hdac9 C A 12: 34,145,933 (GRCm39) V920F unknown Het
Ighv13-2 T C 12: 114,321,593 (GRCm39) S49G probably benign Het
Krt6a T C 15: 101,602,352 (GRCm39) Y111C probably damaging Het
Mib1 T C 18: 10,798,463 (GRCm39) S775P possibly damaging Het
Mki67 A G 7: 135,300,876 (GRCm39) I1386T probably benign Het
Mroh2b A G 15: 4,942,294 (GRCm39) E352G probably damaging Het
Nfya A G 17: 48,702,805 (GRCm39) M61T unknown Het
Ntn4 A G 10: 93,480,587 (GRCm39) T104A probably damaging Het
Numb G A 12: 83,854,921 (GRCm39) T135I probably damaging Het
Or4b12 C A 2: 90,096,564 (GRCm39) C70F probably benign Het
Or52ab4 A C 7: 102,987,807 (GRCm39) E182A probably damaging Het
Or5m5 A T 2: 85,814,792 (GRCm39) T203S probably benign Het
Parpbp A C 10: 87,979,935 (GRCm39) L7R probably benign Het
Pcdhb8 T C 18: 37,489,686 (GRCm39) Y455H probably damaging Het
Pcdhga10 T A 18: 37,880,936 (GRCm39) D232E probably damaging Het
Pcdhga9 T A 18: 37,872,527 (GRCm39) C785* probably null Het
Pkd1l3 A G 8: 110,391,131 (GRCm39) Y1913C possibly damaging Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Ppp1r13b A T 12: 111,805,136 (GRCm39) I350N probably benign Het
Rc3h2 C A 2: 37,289,651 (GRCm39) G387V probably damaging Het
Rfwd3 T C 8: 112,009,352 (GRCm39) H408R probably benign Het
Rpl3l A G 17: 24,954,457 (GRCm39) T173A probably benign Het
Sdad1 T C 5: 92,439,777 (GRCm39) D416G probably damaging Het
Srp72 C A 5: 77,142,053 (GRCm39) T430K probably benign Het
Steap1 C A 5: 5,786,642 (GRCm39) G265V probably damaging Het
Sulf2 A T 2: 165,922,720 (GRCm39) I670N probably benign Het
Tcf7l2 A T 19: 55,730,820 (GRCm39) D16V probably damaging Het
Tmem100 T A 11: 89,926,187 (GRCm39) S5T probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Trak1 T C 9: 121,282,398 (GRCm39) S436P probably benign Het
Ttyh1 T C 7: 4,122,771 (GRCm39) Y40H possibly damaging Het
Ubxn8 T A 8: 34,111,569 (GRCm39) S275C probably benign Het
Umodl1 A G 17: 31,178,252 (GRCm39) Y76C probably damaging Het
Upk3b C T 5: 136,071,861 (GRCm39) T222M probably benign Het
Usp42 T A 5: 143,700,399 (GRCm39) K1208M probably damaging Het
Vmn2r25 A T 6: 123,816,557 (GRCm39) D341E probably benign Het
Vmn2r83 T G 10: 79,313,884 (GRCm39) L164R probably damaging Het
Vwa8 G T 14: 79,420,501 (GRCm39) R1734L probably damaging Het
Other mutations in Zfand2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- TGCTGTGGGAGAGCACATTG -3'
(R):5'- CACTGCAAGCAAAATGGAGC -3'

Sequencing Primer
(F):5'- TCGTTCTGACCCAGCACAG -3'
(R):5'- CAAAAAGCATAAAGACTGCCTTGGTC -3'
Posted On 2019-06-07