Incidental Mutation 'R6648:Zfp1002'
ID 524337
Institutional Source Beutler Lab
Gene Symbol Zfp1002
Ensembl Gene ENSMUSG00000074735
Gene Name zinc finger protein 1002
Synonyms Gm21994
MMRRC Submission 044769-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.368) question?
Stock # R6648 (G1)
Quality Score 149.008
Status Validated
Chromosome 2
Chromosomal Location 150096438-150097511 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150097097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 111 (I111V)
Ref Sequence ENSEMBL: ENSMUSP00000075719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063463] [ENSMUST00000109922]
AlphaFold F6T2D2
Predicted Effect probably benign
Transcript: ENSMUST00000063463
AA Change: I111V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000075719
Gene: ENSMUSG00000074735
AA Change: I111V

DomainStartEndE-ValueType
ZnF_C2H2 1 18 2.7e2 SMART
ZnF_C2H2 53 73 2.75e1 SMART
ZnF_C2H2 77 99 6.42e-4 SMART
ZnF_C2H2 132 154 1.58e-3 SMART
ZnF_C2H2 160 182 1.12e-3 SMART
ZnF_C2H2 188 210 4.01e-5 SMART
ZnF_C2H2 216 238 3.16e-3 SMART
ZnF_C2H2 244 266 8.94e-3 SMART
ZnF_C2H2 272 294 9.58e-3 SMART
ZnF_C2H2 300 322 1.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109922
SMART Domains Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008

DomainStartEndE-ValueType
KRAB 4 66 9.26e-19 SMART
ZnF_C2H2 103 125 7.49e-5 SMART
ZnF_C2H2 131 151 9.46e0 SMART
ZnF_C2H2 159 181 5.9e-3 SMART
ZnF_C2H2 187 209 6.67e-2 SMART
ZnF_C2H2 215 237 4.87e-4 SMART
ZnF_C2H2 243 265 2.82e0 SMART
ZnF_C2H2 271 293 2.2e2 SMART
ZnF_C2H2 299 321 1.4e-4 SMART
ZnF_C2H2 327 349 1.6e-4 SMART
ZnF_C2H2 355 377 1.18e-2 SMART
ZnF_C2H2 383 405 1.38e-3 SMART
ZnF_C2H2 411 433 9.56e1 SMART
ZnF_C2H2 439 461 6.99e-5 SMART
ZnF_C2H2 467 489 2.99e-4 SMART
ZnF_C2H2 495 517 7.78e-3 SMART
ZnF_C2H2 523 545 1.04e-3 SMART
ZnF_C2H2 551 573 1.6e-4 SMART
ZnF_C2H2 579 601 1.18e-2 SMART
ZnF_C2H2 607 629 4.54e-4 SMART
ZnF_C2H2 635 657 4.24e-4 SMART
ZnF_C2H2 663 685 1.2e-3 SMART
ZnF_C2H2 691 713 8.47e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,490 (GRCm39) Y511H probably damaging Het
Arhgef38 A T 3: 132,838,236 (GRCm39) I600N probably damaging Het
Cacna1g A T 11: 94,323,395 (GRCm39) C1270S probably damaging Het
Ccar2 T G 14: 70,376,674 (GRCm39) D890A probably benign Het
Cep76 A T 18: 67,752,804 (GRCm39) V548D probably benign Het
Chat T G 14: 32,176,651 (GRCm39) Q41P probably benign Het
Ddx24 T A 12: 103,374,634 (GRCm39) N850I probably benign Het
Dst A G 1: 34,301,122 (GRCm39) I5879V possibly damaging Het
Ece1 A G 4: 137,648,470 (GRCm39) T92A probably benign Het
Ecrg4 T A 1: 43,777,851 (GRCm39) F87I probably damaging Het
Fpgs G T 2: 32,574,799 (GRCm39) C439* probably null Het
H2-Q4 A T 17: 35,601,981 (GRCm39) E281V probably damaging Het
Hydin A G 8: 111,252,299 (GRCm39) probably null Het
Iqgap2 T C 13: 95,818,719 (GRCm39) E679G probably benign Het
Kif12 A T 4: 63,089,554 (GRCm39) probably null Het
Kif21b T C 1: 136,080,135 (GRCm39) V557A probably benign Het
Mki67 C G 7: 135,299,169 (GRCm39) S1955T probably damaging Het
Mybpc1 G A 10: 88,358,861 (GRCm39) T1110M probably damaging Het
Myh9 T C 15: 77,650,972 (GRCm39) H1625R probably benign Het
Nbeal2 G A 9: 110,466,710 (GRCm39) T704M probably damaging Het
Or1ad6 G A 11: 50,860,000 (GRCm39) D52N probably damaging Het
Or5a21 A T 19: 12,311,130 (GRCm39) M30K probably benign Het
Osbpl9 C A 4: 108,948,876 (GRCm39) Q91H possibly damaging Het
Pcsk5 A T 19: 17,553,185 (GRCm39) L665Q probably damaging Het
Pgm5 T C 19: 24,838,996 (GRCm39) D53G probably benign Het
Plcd4 A G 1: 74,591,172 (GRCm39) D189G probably benign Het
Plxnb1 A T 9: 108,933,398 (GRCm39) Q676L probably benign Het
Prss33 A G 17: 24,053,676 (GRCm39) S134P probably benign Het
Rln1 G T 19: 29,309,521 (GRCm39) T86K probably benign Het
Rnf213 G A 11: 119,370,746 (GRCm39) A4785T possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sh3tc2 T C 18: 62,148,111 (GRCm39) C1274R probably benign Het
Slc35a5 A T 16: 44,964,280 (GRCm39) F318I probably damaging Het
Slc41a3 T C 6: 90,596,490 (GRCm39) F20L probably damaging Het
Socs4 T A 14: 47,527,633 (GRCm39) N189K probably benign Het
Tiam2 A T 17: 3,557,148 (GRCm39) E1196V probably damaging Het
Tmc3 T A 7: 83,246,751 (GRCm39) V164D probably damaging Het
Trim46 T C 3: 89,142,549 (GRCm39) E623G possibly damaging Het
Ubr4 C A 4: 139,180,030 (GRCm39) C3403* probably null Het
Vmn1r194 A T 13: 22,428,694 (GRCm39) T104S probably benign Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Zmynd11 T G 13: 9,763,057 (GRCm39) S95R probably benign Het
Zswim4 C A 8: 84,957,543 (GRCm39) R175L probably benign Het
Other mutations in Zfp1002
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6648_Gm21994_337 UTSW 2 150,097,097 (GRCm39) missense probably benign 0.01
R0853:Zfp1002 UTSW 2 150,097,398 (GRCm39) missense probably benign 0.30
R5135:Zfp1002 UTSW 2 150,097,410 (GRCm39) nonsense probably null
R5161:Zfp1002 UTSW 2 150,097,135 (GRCm39) missense probably damaging 0.99
R5782:Zfp1002 UTSW 2 150,097,438 (GRCm39) missense probably benign 0.41
R6019:Zfp1002 UTSW 2 150,097,132 (GRCm39) missense probably damaging 1.00
R6284:Zfp1002 UTSW 2 150,097,198 (GRCm39) missense possibly damaging 0.95
R6476:Zfp1002 UTSW 2 150,097,246 (GRCm39) missense probably benign 0.00
R6479:Zfp1002 UTSW 2 150,096,511 (GRCm39) missense probably damaging 0.99
R6736:Zfp1002 UTSW 2 150,097,198 (GRCm39) missense possibly damaging 0.95
R6963:Zfp1002 UTSW 2 150,097,265 (GRCm39) missense probably damaging 1.00
R7014:Zfp1002 UTSW 2 150,097,182 (GRCm39) nonsense probably null
R7138:Zfp1002 UTSW 2 150,097,372 (GRCm39) missense probably damaging 1.00
R7625:Zfp1002 UTSW 2 150,096,520 (GRCm39) missense probably benign 0.05
R7855:Zfp1002 UTSW 2 150,097,066 (GRCm39) missense probably benign 0.00
R8145:Zfp1002 UTSW 2 150,096,455 (GRCm39) missense probably benign 0.00
R8284:Zfp1002 UTSW 2 150,097,276 (GRCm39) unclassified probably benign
R9712:Zfp1002 UTSW 2 150,096,496 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GAGATGACTATTTCCTGCAAAGGC -3'
(R):5'- GAAACCCTATGGAGGTGTCCAAC -3'

Sequencing Primer
(F):5'- GGCTTTACCACACTGGTTAC -3'
(R):5'- AAACAACACTTGCTGGAGTG -3'
Posted On 2018-06-22