Incidental Mutation 'R4454:Zfp995'
ID 329106
Institutional Source Beutler Lab
Gene Symbol Zfp995
Ensembl Gene ENSMUSG00000078546
Gene Name zinc finger protein 995
Synonyms 2210404O09Rik
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4454 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 22098551-22128907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22098932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 434 (T434I)
Ref Sequence ENSEMBL: ENSMUSP00000139581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106026] [ENSMUST00000190066]
AlphaFold E9Q6M3
Predicted Effect probably benign
Transcript: ENSMUST00000106026
AA Change: T434I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000101647
Gene: ENSMUSG00000078546
AA Change: T434I

DomainStartEndE-ValueType
KRAB 13 76 8.19e-20 SMART
ZnF_C2H2 183 205 8.81e-2 SMART
ZnF_C2H2 211 233 3.21e-4 SMART
ZnF_C2H2 239 261 4.72e-2 SMART
ZnF_C2H2 267 289 1.98e-4 SMART
ZnF_C2H2 295 317 5.59e-4 SMART
ZnF_C2H2 323 345 4.24e-4 SMART
ZnF_C2H2 351 373 9.73e-4 SMART
ZnF_C2H2 379 401 5.29e-5 SMART
ZnF_C2H2 407 429 8.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190066
AA Change: T434I

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139581
Gene: ENSMUSG00000078546
AA Change: T434I

DomainStartEndE-ValueType
KRAB 13 76 8.19e-20 SMART
ZnF_C2H2 183 205 8.81e-2 SMART
ZnF_C2H2 211 233 3.21e-4 SMART
ZnF_C2H2 239 261 4.72e-2 SMART
ZnF_C2H2 267 289 1.98e-4 SMART
ZnF_C2H2 295 317 5.59e-4 SMART
ZnF_C2H2 323 345 4.24e-4 SMART
ZnF_C2H2 351 373 9.73e-4 SMART
ZnF_C2H2 379 401 5.29e-5 SMART
ZnF_C2H2 407 429 8.02e-5 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Cthrc1 C A 15: 38,940,408 (GRCm39) Q4K probably benign Het
Ddo A T 10: 40,523,543 (GRCm39) I178F probably damaging Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Or8b1b C A 9: 38,375,938 (GRCm39) F200L probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Shoc1 T C 4: 59,092,383 (GRCm39) D266G possibly damaging Het
Snapc3 A G 4: 83,336,996 (GRCm39) E119G probably damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfy1 G T Y: 725,518 (GRCm39) T749K possibly damaging Het
Other mutations in Zfp995
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01800:Zfp995 APN 17 22,099,972 (GRCm39) missense possibly damaging 0.64
experienced UTSW 17 22,106,321 (GRCm39) start codon destroyed probably damaging 0.98
R2906_Zfp995_673 UTSW 17 22,099,247 (GRCm39) missense probably benign 0.00
wise UTSW 17 22,099,493 (GRCm39) missense probably benign 0.06
R1164:Zfp995 UTSW 17 22,098,960 (GRCm39) missense probably damaging 1.00
R1167:Zfp995 UTSW 17 22,098,960 (GRCm39) missense probably damaging 1.00
R1592:Zfp995 UTSW 17 22,106,321 (GRCm39) start codon destroyed probably damaging 0.98
R1669:Zfp995 UTSW 17 22,098,945 (GRCm39) missense probably benign 0.12
R1883:Zfp995 UTSW 17 22,099,622 (GRCm39) missense probably benign 0.00
R2044:Zfp995 UTSW 17 22,099,575 (GRCm39) missense probably damaging 1.00
R2906:Zfp995 UTSW 17 22,099,247 (GRCm39) missense probably benign 0.00
R4670:Zfp995 UTSW 17 22,106,320 (GRCm39) start codon destroyed probably null 1.00
R5265:Zfp995 UTSW 17 22,099,604 (GRCm39) missense possibly damaging 0.55
R5393:Zfp995 UTSW 17 22,099,473 (GRCm39) missense probably benign 0.01
R5585:Zfp995 UTSW 17 22,106,339 (GRCm39) splice site probably benign
R5735:Zfp995 UTSW 17 22,101,010 (GRCm39) missense probably benign 0.05
R6243:Zfp995 UTSW 17 22,099,269 (GRCm39) missense probably damaging 1.00
R6318:Zfp995 UTSW 17 22,099,493 (GRCm39) missense probably benign 0.06
R7311:Zfp995 UTSW 17 22,099,641 (GRCm39) missense probably benign 0.01
R7472:Zfp995 UTSW 17 22,099,181 (GRCm39) missense probably damaging 1.00
R7529:Zfp995 UTSW 17 22,099,333 (GRCm39) nonsense probably null
R7765:Zfp995 UTSW 17 22,100,984 (GRCm39) missense probably damaging 1.00
R8156:Zfp995 UTSW 17 22,099,115 (GRCm39) missense probably damaging 1.00
R8995:Zfp995 UTSW 17 22,099,172 (GRCm39) missense probably benign 0.00
Z1176:Zfp995 UTSW 17 22,101,035 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- GGTCTGAAATTTGGGTAAAGTCC -3'
(R):5'- TCATCAGAGAATTCATACAGGAGAG -3'

Sequencing Primer
(F):5'- CTGAAATTTGGGTAAAGTCCTTTCC -3'
(R):5'- GAAACCTTACAAATGTAGTGAGTGTG -3'
Posted On 2015-07-21