Incidental Mutation 'R2431:Zfp507'
ID 250403
Institutional Source Beutler Lab
Gene Symbol Zfp507
Ensembl Gene ENSMUSG00000044452
Gene Name zinc finger protein 507
Synonyms A230056M16Rik, 1810022O10Rik
MMRRC Submission 040392-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # R2431 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 35471768-35502428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35494827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 72 (R72H)
Ref Sequence ENSEMBL: ENSMUSP00000146278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061586] [ENSMUST00000187282] [ENSMUST00000205670] [ENSMUST00000206615]
AlphaFold Q6ZPY5
Predicted Effect probably benign
Transcript: ENSMUST00000061586
AA Change: R72H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000058609
Gene: ENSMUSG00000044452
AA Change: R72H

DomainStartEndE-ValueType
ZnF_C2H2 122 144 1.56e-2 SMART
ZnF_C2H2 152 175 2.49e-1 SMART
low complexity region 178 192 N/A INTRINSIC
ZnF_C2H2 237 259 8.52e0 SMART
ZnF_C2H2 630 652 2.75e-3 SMART
ZnF_C2H2 658 680 1.26e-2 SMART
ZnF_C2H2 686 709 5.42e-2 SMART
ZnF_C2H2 746 768 4.79e-3 SMART
ZnF_C2H2 774 796 1.45e-2 SMART
ZnF_C2H2 899 921 3.83e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187282
SMART Domains Protein: ENSMUSP00000140940
Gene: ENSMUSG00000044452

DomainStartEndE-ValueType
ZnF_C2H2 107 129 1.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205670
AA Change: R72H

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000206615
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 T C 11: 97,343,230 (GRCm39) V504A probably benign Het
Atr T G 9: 95,744,945 (GRCm39) N87K probably benign Het
Auts2 A T 5: 132,287,887 (GRCm39) L32* probably null Het
Bptf A G 11: 106,938,066 (GRCm39) V2675A possibly damaging Het
Brdt C T 5: 107,525,881 (GRCm39) probably null Het
Ccdc162 T C 10: 41,445,841 (GRCm39) K444E probably benign Het
Cnot1 T C 8: 96,501,280 (GRCm39) D96G probably damaging Het
Cpq C A 15: 33,594,265 (GRCm39) Y425* probably null Het
Eri1 A G 8: 35,943,632 (GRCm39) Y221H probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Focad T C 4: 88,249,264 (GRCm39) V837A unknown Het
Ica1 G A 6: 8,658,265 (GRCm39) T284I probably benign Het
Isg15 C T 4: 156,285,158 (GRCm39) probably null Het
Ltbp4 T C 7: 27,019,101 (GRCm39) T1073A possibly damaging Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Or2a25 T C 6: 42,888,946 (GRCm39) L163S probably damaging Het
Or2ag19 T C 7: 106,444,598 (GRCm39) V260A possibly damaging Het
Or5b21 T C 19: 12,839,970 (GRCm39) V277A probably damaging Het
Or7g12 A G 9: 18,899,299 (GRCm39) N5S probably damaging Het
Piezo2 T C 18: 63,378,695 (GRCm39) H78R possibly damaging Het
Pkd1l1 T C 11: 8,897,197 (GRCm39) N121D probably damaging Het
Pkhd1 T C 1: 20,271,389 (GRCm39) T3055A possibly damaging Het
Ppp5c C T 7: 16,749,350 (GRCm39) V160M probably damaging Het
Ptpn23 G A 9: 110,215,347 (GRCm39) R1438* probably null Het
Ptpro G A 6: 137,420,583 (GRCm39) W183* probably null Het
Pygm T C 19: 6,443,815 (GRCm39) M592T probably damaging Het
Qdpr A G 5: 45,602,072 (GRCm39) V68A probably damaging Het
Rfc5 A C 5: 117,523,523 (GRCm39) S92A probably damaging Het
Ripor3 T C 2: 167,831,715 (GRCm39) Q362R probably benign Het
Ror1 G A 4: 100,298,352 (GRCm39) C575Y probably damaging Het
Skint9 T A 4: 112,246,464 (GRCm39) D216V probably damaging Het
Sox6 T C 7: 115,149,242 (GRCm39) probably null Het
Ugp2 A T 11: 21,279,025 (GRCm39) V387D probably damaging Het
Umodl1 T C 17: 31,211,062 (GRCm39) S747P possibly damaging Het
Vtcn1 A T 3: 100,732,893 (GRCm39) I7F possibly damaging Het
Other mutations in Zfp507
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:Zfp507 APN 7 35,494,137 (GRCm39) missense possibly damaging 0.93
IGL00835:Zfp507 APN 7 35,475,463 (GRCm39) missense probably damaging 1.00
IGL01083:Zfp507 APN 7 35,493,463 (GRCm39) missense probably benign 0.00
IGL01359:Zfp507 APN 7 35,493,927 (GRCm39) missense probably damaging 1.00
IGL01418:Zfp507 APN 7 35,493,237 (GRCm39) splice site probably null
IGL02122:Zfp507 APN 7 35,475,520 (GRCm39) missense probably damaging 1.00
IGL02506:Zfp507 APN 7 35,475,891 (GRCm39) missense probably damaging 1.00
IGL02601:Zfp507 APN 7 35,491,136 (GRCm39) missense probably damaging 1.00
IGL02643:Zfp507 APN 7 35,494,656 (GRCm39) missense probably damaging 0.99
IGL03129:Zfp507 APN 7 35,493,631 (GRCm39) missense probably damaging 1.00
R0400:Zfp507 UTSW 7 35,491,171 (GRCm39) missense probably damaging 1.00
R0812:Zfp507 UTSW 7 35,502,048 (GRCm39) intron probably benign
R1183:Zfp507 UTSW 7 35,494,315 (GRCm39) missense probably damaging 0.99
R1381:Zfp507 UTSW 7 35,475,435 (GRCm39) missense possibly damaging 0.91
R1542:Zfp507 UTSW 7 35,494,226 (GRCm39) missense possibly damaging 0.71
R1626:Zfp507 UTSW 7 35,494,858 (GRCm39) missense probably damaging 1.00
R1759:Zfp507 UTSW 7 35,475,403 (GRCm39) missense probably damaging 0.99
R1843:Zfp507 UTSW 7 35,493,150 (GRCm39) missense probably damaging 0.97
R1852:Zfp507 UTSW 7 35,487,176 (GRCm39) missense probably damaging 1.00
R1893:Zfp507 UTSW 7 35,502,052 (GRCm39) intron probably benign
R1923:Zfp507 UTSW 7 35,493,150 (GRCm39) missense probably damaging 0.97
R1925:Zfp507 UTSW 7 35,493,150 (GRCm39) missense probably damaging 0.97
R1927:Zfp507 UTSW 7 35,493,150 (GRCm39) missense probably damaging 0.97
R2139:Zfp507 UTSW 7 35,493,148 (GRCm39) missense probably damaging 1.00
R2191:Zfp507 UTSW 7 35,494,268 (GRCm39) missense probably damaging 1.00
R2921:Zfp507 UTSW 7 35,494,224 (GRCm39) missense probably damaging 1.00
R2922:Zfp507 UTSW 7 35,494,224 (GRCm39) missense probably damaging 1.00
R3436:Zfp507 UTSW 7 35,487,195 (GRCm39) missense probably damaging 1.00
R4483:Zfp507 UTSW 7 35,487,141 (GRCm39) critical splice donor site probably null
R4751:Zfp507 UTSW 7 35,493,807 (GRCm39) missense probably damaging 0.99
R4852:Zfp507 UTSW 7 35,493,480 (GRCm39) missense probably benign 0.01
R5298:Zfp507 UTSW 7 35,475,421 (GRCm39) missense probably damaging 0.99
R5602:Zfp507 UTSW 7 35,475,663 (GRCm39) nonsense probably null
R5707:Zfp507 UTSW 7 35,493,588 (GRCm39) missense probably damaging 1.00
R5785:Zfp507 UTSW 7 35,487,167 (GRCm39) missense probably benign 0.20
R6140:Zfp507 UTSW 7 35,493,613 (GRCm39) missense probably damaging 1.00
R6674:Zfp507 UTSW 7 35,494,159 (GRCm39) missense probably damaging 0.98
R6714:Zfp507 UTSW 7 35,487,152 (GRCm39) missense probably damaging 0.99
R7045:Zfp507 UTSW 7 35,494,978 (GRCm39) missense possibly damaging 0.56
R7334:Zfp507 UTSW 7 35,475,505 (GRCm39) missense probably damaging 1.00
R7365:Zfp507 UTSW 7 35,475,843 (GRCm39) missense unknown
R7569:Zfp507 UTSW 7 35,493,969 (GRCm39) missense probably damaging 0.99
R7662:Zfp507 UTSW 7 35,487,229 (GRCm39) nonsense probably null
R7846:Zfp507 UTSW 7 35,493,963 (GRCm39) missense probably damaging 1.00
R9100:Zfp507 UTSW 7 35,494,446 (GRCm39) missense probably benign 0.39
R9136:Zfp507 UTSW 7 35,475,883 (GRCm39) missense probably damaging 0.96
R9513:Zfp507 UTSW 7 35,475,573 (GRCm39) missense probably benign 0.00
Z1088:Zfp507 UTSW 7 35,493,702 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CTCTTTCAGCACAGAAAAGGATGG -3'
(R):5'- CATTGCCATGTTGGTGCAAG -3'

Sequencing Primer
(F):5'- GTGACAGGAACTTACAAAGGCTACAC -3'
(R):5'- CCATGTTGGTGCAAGAGATTG -3'
Posted On 2014-11-12