Incidental Mutation 'R4210:Zfand2b'
ID 319099
Institutional Source Beutler Lab
Gene Symbol Zfand2b
Ensembl Gene ENSMUSG00000026197
Gene Name zinc finger, AN1 type domain 2B
Synonyms 1110060O18Rik
MMRRC Submission 041039-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4210 (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 T at 75146454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 110 (M110L)
Ref Sequence ENSEMBL: ENSMUSP00000125086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000162768] [ENSMUST00000161215]
AlphaFold Q91X58
Predicted Effect probably benign
Transcript: ENSMUST00000027394
AA Change: M110L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
AA Change: M110L

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 benign
Transcript: ENSMUST00000160439
AA Change: M110L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
AA Change: M110L

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 unknown
Transcript: ENSMUST00000186227
AA Change: M103L
Predicted Effect probably benign
Transcript: ENSMUST00000162768
AA Change: M110L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
AA Change: M110L

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 noncoding transcript
Transcript: ENSMUST00000161106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160903
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: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C T 2: 68,490,222 (GRCm39) probably benign Het
Abl1 T C 2: 31,691,708 (GRCm39) Y1076H probably damaging Het
Adamts7 C T 9: 90,076,063 (GRCm39) T1265I possibly damaging Het
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Axin2 T A 11: 108,833,402 (GRCm39) I529N possibly damaging Het
Bbof1 T C 12: 84,455,957 (GRCm39) M1T probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cmpk2 G T 12: 26,519,570 (GRCm39) A74S probably benign Het
Colgalt1 G A 8: 72,075,350 (GRCm39) V419I probably benign Het
Crybg3 A G 16: 59,364,414 (GRCm39) S2403P probably damaging Het
D930048N14Rik G A 11: 51,545,632 (GRCm39) probably benign Het
Dnah7b T A 1: 46,176,578 (GRCm39) C733S possibly damaging Het
Drc1 G A 5: 30,504,490 (GRCm39) V211M possibly damaging Het
Ephx2 T C 14: 66,322,393 (GRCm39) T525A probably damaging Het
Eya4 A G 10: 23,102,698 (GRCm39) probably null Het
Foxc1 T C 13: 31,991,690 (GRCm39) F167S probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
Gm6370 C A 5: 146,430,734 (GRCm39) F306L possibly damaging Het
Hmgcr A G 13: 96,796,729 (GRCm39) V187A probably damaging Het
Igkv9-129 T A 6: 67,817,242 (GRCm39) S114R possibly damaging Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Ikzf3 T C 11: 98,381,313 (GRCm39) Y89C probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Iqsec3 T C 6: 121,389,999 (GRCm39) probably benign Het
Itga3 C A 11: 94,953,449 (GRCm39) V298L probably benign Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lbh T A 17: 73,228,178 (GRCm39) probably null Het
Lrba G A 3: 86,267,433 (GRCm39) G1708S probably damaging Het
Lrig2 C T 3: 104,374,620 (GRCm39) V154I probably benign Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mast4 A T 13: 102,875,713 (GRCm39) F1318L probably damaging Het
Ncam2 T C 16: 81,323,991 (GRCm39) V545A probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Or2w1 A T 13: 21,317,607 (GRCm39) I221L possibly damaging Het
Or6n2 G A 1: 173,897,574 (GRCm39) A237T probably damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Pdlim4 T G 11: 53,946,744 (GRCm39) D181A possibly damaging Het
Phtf1 G A 3: 103,910,919 (GRCm39) probably null Het
Pik3r4 G A 9: 105,527,957 (GRCm39) A437T possibly damaging Het
Proser3 G A 7: 30,245,525 (GRCm39) probably benign Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Rnf152 A G 1: 105,212,077 (GRCm39) V160A probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sidt2 T C 9: 45,854,073 (GRCm39) T652A probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Sspo C A 6: 48,441,835 (GRCm39) H1948Q probably benign Het
Stap2 G T 17: 56,304,827 (GRCm39) Y318* probably null Het
Sytl1 T C 4: 132,980,876 (GRCm39) D421G probably damaging Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tenm3 C T 8: 48,802,439 (GRCm39) G374D probably damaging Het
Terf2 A G 8: 107,806,080 (GRCm39) S291P probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmod4 A G 3: 95,035,140 (GRCm39) D215G probably benign Het
Tnxb T C 17: 34,929,951 (GRCm39) I2895T possibly damaging Het
Tsbp1 G T 17: 34,679,257 (GRCm39) probably benign Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Uxs1 T A 1: 43,789,398 (GRCm39) H419L possibly damaging Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Vmn1r79 A G 7: 11,910,415 (GRCm39) Y99C possibly damaging Het
Zc3h14 A G 12: 98,751,658 (GRCm39) H199R probably damaging Het
Zfp976 A G 7: 42,265,749 (GRCm39) F12S probably damaging 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
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'- CTGTGGGAGAGCACATTGAC -3'
(R):5'- AGCATAAAGACTGCCTTGGTC -3'

Sequencing Primer
(F):5'- TCGTTCTGACCCAGCACAG -3'
(R):5'- CTTGGTCAAGGAAGACATGGCTG -3'
Posted On 2015-06-10