Incidental Mutation 'R7399:Zfp950'
ID 574068
Institutional Source Beutler Lab
Gene Symbol Zfp950
Ensembl Gene ENSMUSG00000074733
Gene Name zinc finger protein 950
Synonyms BC029127
MMRRC Submission 045481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R7399 (G1)
Quality Score 99.0078
Status Validated
Chromosome 19
Chromosomal Location 61053840-61140840 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61119155 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 497 (C497S)
Ref Sequence ENSEMBL: ENSMUSP00000146243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122927] [ENSMUST00000127117] [ENSMUST00000127290] [ENSMUST00000143264] [ENSMUST00000178819] [ENSMUST00000180544] [ENSMUST00000205712] [ENSMUST00000205854]
AlphaFold A0A0U1RQ46
Predicted Effect probably benign
Transcript: ENSMUST00000122927
Predicted Effect probably benign
Transcript: ENSMUST00000127117
Predicted Effect probably benign
Transcript: ENSMUST00000127290
Predicted Effect probably benign
Transcript: ENSMUST00000143264
Predicted Effect probably benign
Transcript: ENSMUST00000178819
Predicted Effect probably damaging
Transcript: ENSMUST00000180544
AA Change: C497S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205712
Predicted Effect probably benign
Transcript: ENSMUST00000205854
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit some postnatal lethality, altered craniofacial structures, kidney defects, embryonic hemorrhaging and cell migration defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,260,679 (GRCm38) V801G possibly damaging Het
Actbl2 T A 13: 111,255,593 (GRCm38) M154K probably benign Het
Adam7 A T 14: 68,504,466 (GRCm38) probably null Het
Arfgef1 T A 1: 10,180,897 (GRCm38) T888S probably benign Het
AW554918 C T 18: 25,169,060 (GRCm38) P10L possibly damaging Het
Bcap29 A G 12: 31,630,882 (GRCm38) I35T probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 (GRCm38) 254 probably null Het
C87499 C A 4: 88,627,965 (GRCm38) R380L probably benign Het
Cdc25b A G 2: 131,194,654 (GRCm38) D458G probably damaging Het
Cdc42bpb T C 12: 111,305,667 (GRCm38) K1104R probably benign Het
Cep89 A G 7: 35,438,378 (GRCm38) N729S probably damaging Het
Clec4a4 T A 6: 122,991,829 (GRCm38) M51K possibly damaging Het
Dcdc2b A G 4: 129,609,629 (GRCm38) L270P probably damaging Het
Dennd5b G T 6: 149,036,483 (GRCm38) H639N probably damaging Het
Dnah11 T C 12: 118,125,785 (GRCm38) E1182G probably damaging Het
Dnah11 T G 12: 118,027,477 (GRCm38) T2385P probably benign Het
Dok7 T C 5: 35,066,471 (GRCm38) V81A probably damaging Het
Dtx1 T A 5: 120,682,393 (GRCm38) M494L possibly damaging Het
Foxj1 A T 11: 116,332,254 (GRCm38) L241Q possibly damaging Het
Gbp10 G A 5: 105,236,149 (GRCm38) probably benign Het
Hnmt T A 2: 24,003,880 (GRCm38) T201S probably benign Het
Jup G T 11: 100,378,351 (GRCm38) T412K possibly damaging Het
Kcnh2 G A 5: 24,322,059 (GRCm38) S954F probably damaging Het
Klhdc7b A C 15: 89,388,644 (GRCm38) K585T possibly damaging Het
Klk7 T A 7: 43,812,000 (GRCm38) S14T probably benign Het
Lama4 G A 10: 39,047,948 (GRCm38) E451K probably damaging Het
Ldhb A G 6: 142,495,673 (GRCm38) C164R probably damaging Het
Malrd1 G A 2: 15,610,090 (GRCm38) D239N Het
Mgam T A 6: 40,666,854 (GRCm38) V572E probably damaging Het
Mrgprb2 G T 7: 48,552,142 (GRCm38) N278K probably damaging Het
Msto1 A G 3: 88,911,823 (GRCm38) Y206H probably damaging Het
Myo6 A G 9: 80,262,291 (GRCm38) S467G unknown Het
Mysm1 T A 4: 94,961,727 (GRCm38) I447L probably benign Het
Nav3 T C 10: 109,852,934 (GRCm38) E494G possibly damaging Het
Nol10 T G 12: 17,402,173 (GRCm38) V376G probably damaging Het
Nup205 T A 6: 35,214,676 (GRCm38) I1032N probably damaging Het
Olfr1002 T A 2: 85,647,424 (GRCm38) D299V possibly damaging Het
Olfr1100 G A 2: 86,978,157 (GRCm38) T213I probably benign Het
Olfr1170 A T 2: 88,225,022 (GRCm38) Y3* probably null Het
Olfr1450 A G 19: 12,954,447 (GRCm38) N286S probably damaging Het
Olfr449 T G 6: 42,838,746 (GRCm38) Y288* probably null Het
Olfr455 A G 6: 42,538,728 (GRCm38) F98S possibly damaging Het
Olfr617 A T 7: 103,584,381 (GRCm38) I120L possibly damaging Het
Olfr782 A T 10: 129,350,557 (GRCm38) probably benign Het
Olfr996 A G 2: 85,579,296 (GRCm38) D19G probably benign Het
Oog2 A G 4: 144,195,281 (GRCm38) K254E probably benign Het
Osbpl11 T A 16: 33,236,279 (GRCm38) D694E probably benign Het
Pcm1 T A 8: 41,293,510 (GRCm38) Y1210N probably benign Het
Pdxk T C 10: 78,440,863 (GRCm38) M293V probably benign Het
Plcb3 T C 19: 6,962,867 (GRCm38) I451V probably benign Het
Plekhm2 A G 4: 141,634,376 (GRCm38) F272S probably damaging Het
Ptgdr A T 14: 44,858,232 (GRCm38) probably null Het
Ptprf C T 4: 118,226,523 (GRCm38) V788I probably benign Het
Ralbp1 C T 17: 65,854,148 (GRCm38) V467I probably benign Het
Ralgds A C 2: 28,543,655 (GRCm38) Q229P possibly damaging Het
Recql T C 6: 142,374,884 (GRCm38) D146G probably damaging Het
Reln T C 5: 22,051,367 (GRCm38) N493S probably damaging Het
Rfxank C T 8: 70,135,286 (GRCm38) probably null Het
Scn5a A T 9: 119,486,530 (GRCm38) M1704K probably damaging Het
Slc7a7 G T 14: 54,374,268 (GRCm38) A316E possibly damaging Het
Slco1a6 A T 6: 142,091,068 (GRCm38) C538S probably benign Het
Spert A G 14: 75,592,637 (GRCm38) S39P probably benign Het
Stard6 T C 18: 70,498,647 (GRCm38) probably null Het
Strip2 T A 6: 29,927,613 (GRCm38) M219K possibly damaging Het
Tcam1 T C 11: 106,284,085 (GRCm38) V122A probably damaging Het
Tha1 A G 11: 117,869,690 (GRCm38) V236A possibly damaging Het
Tmem201 A T 4: 149,731,097 (GRCm38) I132N possibly damaging Het
Tnc T C 4: 64,020,657 (GRCm38) probably benign Het
Vmn1r42 T C 6: 89,845,513 (GRCm38) T25A probably benign Het
Vmn2r94 T A 17: 18,244,503 (GRCm38) probably null Het
Wdfy4 A C 14: 33,068,906 (GRCm38) V2188G Het
Zfp623 T C 15: 75,947,398 (GRCm38) S68P probably damaging Het
Zkscan2 C T 7: 123,480,104 (GRCm38) E877K probably damaging Het
Zp3r C A 1: 130,577,053 (GRCm38) V536L probably damaging Het
Other mutations in Zfp950
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB005:Zfp950 UTSW 19 61,119,500 (GRCm38) missense probably damaging 1.00
R1892:Zfp950 UTSW 19 61,119,111 (GRCm38) missense probably benign 0.05
R3442:Zfp950 UTSW 19 61,118,732 (GRCm38) nonsense probably null
R6062:Zfp950 UTSW 19 61,120,425 (GRCm38) missense possibly damaging 0.89
R7231:Zfp950 UTSW 19 61,119,212 (GRCm38) missense probably benign 0.28
R7285:Zfp950 UTSW 19 61,119,112 (GRCm38) missense probably benign 0.02
R7727:Zfp950 UTSW 19 61,119,941 (GRCm38) missense probably benign 0.33
R7744:Zfp950 UTSW 19 61,127,572 (GRCm38) splice site probably null
R7811:Zfp950 UTSW 19 61,119,915 (GRCm38) nonsense probably null
R7928:Zfp950 UTSW 19 61,119,500 (GRCm38) missense probably damaging 1.00
R8857:Zfp950 UTSW 19 61,127,563 (GRCm38) missense probably benign 0.14
R9143:Zfp950 UTSW 19 61,120,340 (GRCm38) missense probably benign 0.26
R9711:Zfp950 UTSW 19 61,127,562 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13