Incidental Mutation 'R7736:Zfand2b'
ID 596225
Institutional Source Beutler Lab
Gene Symbol Zfand2b
Ensembl Gene ENSMUSG00000026197
Gene Name zinc finger, AN1 type domain 2B
Synonyms 1110060O18Rik
MMRRC Submission 045792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R7736 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 75145290-75148270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75146176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 61 (N61K)
Ref Sequence ENSEMBL: ENSMUSP00000027394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000161215] [ENSMUST00000162768]
AlphaFold Q91X58
Predicted Effect probably null
Transcript: ENSMUST00000027394
AA Change: N61K

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
AA Change: N61K

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 null
Transcript: ENSMUST00000160439
AA Change: N61K

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
AA Change: N61K

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 null
Transcript: ENSMUST00000162768
AA Change: N61K

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
AA Change: N61K

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
AA Change: N54K
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,359,123 (GRCm39) D561A probably benign Het
Adgrg1 T C 8: 95,731,965 (GRCm39) F204S probably benign Het
Apoa2 T C 1: 171,053,741 (GRCm39) L72P probably damaging Het
Arhgef10 A T 8: 15,030,583 (GRCm39) K987* probably null Het
Arrb1 A G 7: 99,188,981 (GRCm39) D9G unknown Het
Asph A G 4: 9,621,930 (GRCm39) S192P possibly damaging Het
Bcas1 G A 2: 170,229,084 (GRCm39) T309M possibly damaging Het
Bcat2 C T 7: 45,234,617 (GRCm39) T166M possibly damaging Het
Bmp5 A T 9: 75,801,072 (GRCm39) I401L probably damaging Het
Bpifb9b G A 2: 154,154,025 (GRCm39) G261R probably benign Het
Cd53 T A 3: 106,675,252 (GRCm39) Y106F probably benign Het
Cdhr3 T A 12: 33,103,519 (GRCm39) D366V probably benign Het
Ceacam10 G C 7: 24,480,636 (GRCm39) V256L unknown Het
Cilp2 A G 8: 70,334,071 (GRCm39) Y976H probably damaging Het
Cklf A G 8: 104,988,187 (GRCm39) T107A possibly damaging Het
Dhx16 T A 17: 36,192,568 (GRCm39) W167R possibly damaging Het
Dkk2 T G 3: 131,883,775 (GRCm39) L225R probably damaging Het
Dmbt1 A T 7: 130,718,625 (GRCm39) D1782V unknown Het
Ebag9 A T 15: 44,491,800 (GRCm39) D64V probably damaging Het
Eif3j2 T C 18: 43,610,382 (GRCm39) N144D possibly damaging Het
Elp1 T C 4: 56,776,920 (GRCm39) T626A possibly damaging Het
Foxk2 A T 11: 121,190,473 (GRCm39) Q538L possibly damaging Het
Fpgt T G 3: 154,792,747 (GRCm39) I427L probably benign Het
Ganc A T 2: 120,264,295 (GRCm39) N416I possibly damaging Het
Gata6 A G 18: 11,084,379 (GRCm39) Y556C probably damaging Het
Gga2 A T 7: 121,589,747 (GRCm39) V534E probably damaging Het
Gm7324 T A 14: 43,952,256 (GRCm39) S300T possibly damaging Het
Gprc6a A C 10: 51,491,549 (GRCm39) N733K possibly damaging Het
Hivep3 C T 4: 119,952,740 (GRCm39) T352I possibly damaging Het
Ift88 T G 14: 57,683,121 (GRCm39) V266G probably benign Het
Ip6k1 G T 9: 107,922,891 (GRCm39) G341V probably damaging Het
Itga3 G T 11: 94,967,029 (GRCm39) A45E probably damaging Het
Kctd14 T A 7: 97,107,147 (GRCm39) L134Q probably damaging Het
Lats1 C A 10: 7,578,128 (GRCm39) N417K probably damaging Het
Lrrc37a T C 11: 103,388,285 (GRCm39) H2380R unknown Het
Lrrc4c A G 2: 97,460,705 (GRCm39) T444A probably benign Het
M1ap T C 6: 82,982,565 (GRCm39) I283T probably benign Het
Mapre2 T C 18: 24,011,012 (GRCm39) S207P probably benign Het
Moxd1 T C 10: 24,158,608 (GRCm39) F421L probably damaging Het
Nos2 T A 11: 78,813,192 (GRCm39) C33* probably null Het
Or14j4 A T 17: 37,921,303 (GRCm39) L113H probably damaging Het
Or1j16 A T 2: 36,530,197 (GRCm39) I49F probably damaging Het
Or5g26 T C 2: 85,494,758 (GRCm39) T7A probably damaging Het
Otud4 T C 8: 80,382,394 (GRCm39) I201T possibly damaging Het
Pank4 T C 4: 155,054,204 (GRCm39) Y128H probably benign Het
Phf11 C T 14: 59,488,594 (GRCm39) D68N probably benign Het
Pitpnm2 A G 5: 124,261,093 (GRCm39) V1027A possibly damaging Het
Plcb3 A G 19: 6,946,991 (GRCm39) V8A probably benign Het
Por A G 5: 135,759,976 (GRCm39) E221G probably damaging Het
Prokr2 A T 2: 132,223,500 (GRCm39) L14* probably null Het
Ptgis A G 2: 167,033,891 (GRCm39) F459S unknown Het
Ptpru T C 4: 131,515,693 (GRCm39) E887G probably damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Slc18a1 A G 8: 69,518,206 (GRCm39) probably null Het
Slc27a3 A G 3: 90,296,740 (GRCm39) S120P probably benign Het
Slc2a12 T A 10: 22,540,717 (GRCm39) Y191N probably damaging Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Syncrip A G 9: 88,343,721 (GRCm39) probably null Het
Taar4 T A 10: 23,836,897 (GRCm39) V169E probably damaging Het
Tas1r1 C T 4: 152,116,923 (GRCm39) G237D probably benign Het
Tle1 T C 4: 72,117,571 (GRCm39) K30E probably damaging Het
Tmem131l A T 3: 83,847,875 (GRCm39) L330Q probably damaging Het
Tmem67 A G 4: 12,053,455 (GRCm39) F698L probably benign Het
Ttn T A 2: 76,739,574 (GRCm39) Q3701L unknown Het
Vmn2r17 G A 5: 109,600,757 (GRCm39) R685K probably benign Het
Ylpm1 C A 12: 85,059,757 (GRCm39) A321E unknown Het
Zdbf2 T A 1: 63,347,166 (GRCm39) Y1848* probably null Het
Zfp867 C T 11: 59,354,016 (GRCm39) A438T probably damaging Het
Zkscan14 G A 5: 145,132,319 (GRCm39) T404I probably benign Het
Zrsr2-ps1 C T 11: 22,923,510 (GRCm39) Q95* 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
R5765:Zfand2b UTSW 1 75,147,171 (GRCm39) splice site probably null
R5878:Zfand2b UTSW 1 75,147,154 (GRCm39) intron probably benign
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'- GGGTGCAGATGCTTTCAGGATC -3'
(R):5'- GGAAACTCATCTTCTCCTCTGG -3'

Sequencing Primer
(F):5'- TGCTTTCAGGATCTGTCTATTTTATG -3'
(R):5'- CCCATGGAGCTAGCCTTTTGG -3'
Posted On 2019-11-26