Incidental Mutation 'R7520:Zfand1'
ID 582614
Institutional Source Beutler Lab
Gene Symbol Zfand1
Ensembl Gene ENSMUSG00000039795
Gene Name zinc finger, AN1-type domain 1
Synonyms 2310008M20Rik
MMRRC Submission 045592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R7520 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 10405013-10416377 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10411009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 115 (V115A)
Ref Sequence ENSEMBL: ENSMUSP00000037459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037839] [ENSMUST00000108377] [ENSMUST00000140634] [ENSMUST00000184644]
AlphaFold Q8BFR6
PDB Structure Solution structure of the 2nd zf-AN1 domain of mouse RIKEN cDNA 2310008M20 protein [SOLUTION NMR]
Solution structure of the first zf-AN1 domain of mouse RIKEN cDNA 2310008M20 protein [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000037839
AA Change: V115A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037459
Gene: ENSMUSG00000039795
AA Change: V115A

DomainStartEndE-ValueType
ZnF_AN1 10 49 1.4e-8 SMART
ZnF_AN1 64 103 2.64e-4 SMART
low complexity region 121 142 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108377
AA Change: V115A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104014
Gene: ENSMUSG00000039795
AA Change: V115A

DomainStartEndE-ValueType
ZnF_AN1 10 49 1.4e-8 SMART
ZnF_AN1 64 103 2.64e-4 SMART
low complexity region 121 142 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140634
AA Change: V121A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122048
Gene: ENSMUSG00000039795
AA Change: V121A

DomainStartEndE-ValueType
ZnF_AN1 19 55 5.62e-3 SMART
ZnF_AN1 70 109 2.64e-4 SMART
low complexity region 127 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184644
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,281,859 (GRCm39) Y311C probably damaging Het
Abca1 A T 4: 53,078,114 (GRCm39) I886N probably benign Het
Adamts6 A G 13: 104,433,694 (GRCm39) H41R probably benign Het
Adck1 T C 12: 88,425,975 (GRCm39) probably null Het
Atat1 G T 17: 36,208,706 (GRCm39) T398K probably benign Het
Bahcc1 A G 11: 120,167,031 (GRCm39) E1144G possibly damaging Het
Cand2 G T 6: 115,762,212 (GRCm39) E213* probably null Het
Cep350 A G 1: 155,791,375 (GRCm39) S1250P probably benign Het
Cln3 A G 7: 126,180,852 (GRCm39) L63P probably damaging Het
Col4a4 A T 1: 82,484,808 (GRCm39) C486* probably null Het
Ctnnal1 A T 4: 56,837,838 (GRCm39) M264K probably damaging Het
Ddr2 T A 1: 169,812,008 (GRCm39) D738V probably damaging Het
Dnah6 T C 6: 73,104,887 (GRCm39) M1901V probably benign Het
Dnhd1 A G 7: 105,345,255 (GRCm39) T2200A probably benign Het
Dolk A G 2: 30,174,555 (GRCm39) Y497H probably benign Het
Drd5 T C 5: 38,478,195 (GRCm39) V396A probably benign Het
Epsti1 A T 14: 78,200,883 (GRCm39) probably null Het
Erich3 A G 3: 154,468,763 (GRCm39) T1072A unknown Het
Ero1a A T 14: 45,544,032 (GRCm39) N57K probably damaging Het
Exph5 T C 9: 53,278,514 (GRCm39) probably null Het
Frmd5 C T 2: 121,384,745 (GRCm39) probably null Het
H2-Q7 A G 17: 35,661,686 (GRCm39) T310A probably benign Het
Hecw2 G T 1: 53,965,215 (GRCm39) A537E probably benign Het
Itga4 A T 2: 79,131,333 (GRCm39) D567V probably damaging Het
Kcnu1 A T 8: 26,375,368 (GRCm39) N361Y probably damaging Het
Keap1 A G 9: 21,144,787 (GRCm39) S408P probably benign Het
Mamdc4 T A 2: 25,455,360 (GRCm39) I928F possibly damaging Het
Mboat4 T C 8: 34,591,028 (GRCm39) F155S probably benign Het
Mtbp A G 15: 55,440,742 (GRCm39) probably benign Het
Nmi T G 2: 51,842,492 (GRCm39) K200T probably benign Het
Or2n1e G A 17: 38,586,331 (GRCm39) C223Y probably benign Het
Or8g19 G T 9: 39,055,414 (GRCm39) R6L probably benign Het
Pcdha7 G A 18: 37,108,366 (GRCm39) V464M probably damaging Het
Peg10 T A 6: 4,756,796 (GRCm39) N457K unknown Het
Plekha7 A T 7: 115,736,519 (GRCm39) I944N possibly damaging Het
Plpp1 T A 13: 112,937,781 (GRCm39) D13E possibly damaging Het
Pnpla6 G T 8: 3,587,508 (GRCm39) V1070F probably damaging Het
Riox1 T A 12: 83,998,545 (GRCm39) Y360* probably null Het
Sdhb A G 4: 140,693,882 (GRCm39) D50G possibly damaging Het
Slc35f2 T A 9: 53,708,385 (GRCm39) V126D possibly damaging Het
Slmap A G 14: 26,148,575 (GRCm39) V612A probably benign Het
Snap91 T A 9: 86,721,702 (GRCm39) I46F probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar7b T C 10: 23,876,381 (GRCm39) L182P probably damaging Het
Tmc1 T A 19: 20,776,542 (GRCm39) M606L probably damaging Het
Trpm8 T A 1: 88,271,043 (GRCm39) D444E probably benign Het
Tsen54 A G 11: 115,711,797 (GRCm39) T405A probably damaging Het
Ttll5 T C 12: 85,946,245 (GRCm39) W492R probably damaging Het
Ttn T A 2: 76,728,123 (GRCm39) T5566S unknown Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Other mutations in Zfand1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Zfand1 APN 3 10,413,590 (GRCm39) missense probably null 0.26
IGL00671:Zfand1 APN 3 10,411,084 (GRCm39) missense probably damaging 1.00
IGL01775:Zfand1 APN 3 10,409,926 (GRCm39) missense probably damaging 1.00
IGL03080:Zfand1 APN 3 10,405,797 (GRCm39) makesense probably null
R0678:Zfand1 UTSW 3 10,413,577 (GRCm39) missense probably benign 0.23
R1394:Zfand1 UTSW 3 10,411,269 (GRCm39) missense probably benign 0.04
R1637:Zfand1 UTSW 3 10,411,042 (GRCm39) missense probably benign 0.10
R1699:Zfand1 UTSW 3 10,406,115 (GRCm39) missense possibly damaging 0.67
R4020:Zfand1 UTSW 3 10,405,816 (GRCm39) missense probably benign 0.06
R5700:Zfand1 UTSW 3 10,406,079 (GRCm39) missense probably damaging 1.00
R6798:Zfand1 UTSW 3 10,411,236 (GRCm39) missense probably benign 0.30
R6817:Zfand1 UTSW 3 10,405,884 (GRCm39) missense probably benign 0.34
R8304:Zfand1 UTSW 3 10,413,615 (GRCm39) nonsense probably null
R8855:Zfand1 UTSW 3 10,405,811 (GRCm39) missense probably benign 0.05
R8886:Zfand1 UTSW 3 10,409,862 (GRCm39) missense probably null 0.89
R8964:Zfand1 UTSW 3 10,413,631 (GRCm39) missense probably benign 0.00
R9099:Zfand1 UTSW 3 10,406,148 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGGACTCATCAAAATGCAAGTTC -3'
(R):5'- TTTGCCTGAGGTAATCGCTG -3'

Sequencing Primer
(F):5'- CTGTTAAGAGGCCTTTCCAGAGGAC -3'
(R):5'- GCTGAACCATGCAAGCTTTG -3'
Posted On 2019-10-17