Incidental Mutation 'R6857:Zfp1004'
ID 535299
Institutional Source Beutler Lab
Gene Symbol Zfp1004
Ensembl Gene ENSMUSG00000079009
Gene Name zinc finger protein 1004
Synonyms Gm14139
MMRRC Submission 044959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6857 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 150023675-150035199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 150033982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 132 (C132F)
Ref Sequence ENSEMBL: ENSMUSP00000105555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109926] [ENSMUST00000109929]
AlphaFold F6ZS36
Predicted Effect probably damaging
Transcript: ENSMUST00000109926
AA Change: C101F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105552
Gene: ENSMUSG00000079009
AA Change: C101F

DomainStartEndE-ValueType
Blast:KRAB 1 34 7e-15 BLAST
ZnF_C2H2 71 93 8.6e-5 SMART
ZnF_C2H2 99 121 1.76e-1 SMART
ZnF_C2H2 127 149 3.02e0 SMART
ZnF_C2H2 183 205 6.08e-5 SMART
ZnF_C2H2 211 233 1.04e-3 SMART
ZnF_C2H2 239 261 2.57e-3 SMART
ZnF_C2H2 267 289 1.06e-4 SMART
ZnF_C2H2 295 317 2.2e-2 SMART
ZnF_C2H2 323 345 4.47e-3 SMART
ZnF_C2H2 351 373 7.37e-4 SMART
ZnF_C2H2 379 401 4.24e-4 SMART
ZnF_C2H2 407 429 1.2e-3 SMART
ZnF_C2H2 435 457 2.61e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109929
AA Change: C132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105555
Gene: ENSMUSG00000079009
AA Change: C132F

DomainStartEndE-ValueType
KRAB 3 65 1.65e-15 SMART
ZnF_C2H2 102 124 8.6e-5 SMART
ZnF_C2H2 130 152 1.76e-1 SMART
ZnF_C2H2 158 180 3.02e0 SMART
ZnF_C2H2 214 236 6.08e-5 SMART
ZnF_C2H2 242 264 1.04e-3 SMART
ZnF_C2H2 270 292 2.57e-3 SMART
ZnF_C2H2 298 320 1.06e-4 SMART
ZnF_C2H2 326 348 2.2e-2 SMART
ZnF_C2H2 354 376 4.47e-3 SMART
ZnF_C2H2 382 404 7.37e-4 SMART
ZnF_C2H2 410 432 4.24e-4 SMART
ZnF_C2H2 438 460 1.2e-3 SMART
ZnF_C2H2 466 488 2.61e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,110,514 (GRCm39) L545P possibly damaging Het
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Ahnak C T 19: 9,014,532 (GRCm39) Q119* probably null Het
Anxa10 C A 8: 62,514,051 (GRCm39) A239S probably benign Het
B020011L13Rik A T 1: 117,729,018 (GRCm39) H175L probably benign Het
Best2 A G 8: 85,734,452 (GRCm39) V422A probably benign Het
Cc2d2b T C 19: 40,759,309 (GRCm39) F298S possibly damaging Het
Cd38 T A 5: 44,063,540 (GRCm39) M211K probably damaging Het
Cd3d T G 9: 44,896,902 (GRCm39) M92R probably damaging Het
Cdk5rap2 C A 4: 70,163,633 (GRCm39) E1474* probably null Het
Clvs1 A G 4: 9,449,433 (GRCm39) K341E probably benign Het
Copg2 G T 6: 30,840,533 (GRCm39) D112E possibly damaging Het
Cspg4b A T 13: 113,456,492 (GRCm39) N846I probably damaging Het
Dmxl1 A T 18: 49,997,902 (GRCm39) N697Y probably damaging Het
Dync1h1 T C 12: 110,624,981 (GRCm39) S3803P possibly damaging Het
Ecpas T A 4: 58,814,065 (GRCm39) D1347V probably damaging Het
Epx T A 11: 87,760,781 (GRCm39) K384* probably null Het
Fam135a G C 1: 24,053,870 (GRCm39) D1222E probably damaging Het
Fndc1 T A 17: 7,991,002 (GRCm39) H898L unknown Het
Gapvd1 A G 2: 34,618,389 (GRCm39) I190T probably damaging Het
Hax1 T G 3: 89,904,759 (GRCm39) S122R probably damaging Het
Hdac9 T G 12: 34,443,362 (GRCm39) M272L probably benign Het
Itgb7 T C 15: 102,131,900 (GRCm39) S228G probably damaging Het
Itpr2 C A 6: 146,298,517 (GRCm39) E315* probably null Het
Kctd8 T C 5: 69,454,045 (GRCm39) N331D probably benign Het
Ky G A 9: 102,419,631 (GRCm39) G546E probably damaging Het
Lao1 T C 4: 118,821,023 (GRCm39) probably null Het
Mtmr12 T A 15: 12,263,918 (GRCm39) W427R probably damaging Het
Mxra8 A G 4: 155,927,593 (GRCm39) K434E possibly damaging Het
Myh4 T C 11: 67,140,711 (GRCm39) C676R possibly damaging Het
Nek7 C T 1: 138,443,420 (GRCm39) G178R probably damaging Het
Or5w17 A T 2: 87,583,831 (GRCm39) C169S probably damaging Het
Or8b50 T C 9: 38,518,307 (GRCm39) L182P probably benign Het
Or8k35 A T 2: 86,424,608 (GRCm39) L188H probably damaging Het
Paqr5 G T 9: 61,883,370 (GRCm39) H41N probably damaging Het
Plekha8 T C 6: 54,606,920 (GRCm39) L405P probably damaging Het
Plpbp A G 8: 27,535,454 (GRCm39) N79S possibly damaging Het
Plxnd1 G T 6: 115,970,724 (GRCm39) A348E probably benign Het
Prdm9 T C 17: 15,764,518 (GRCm39) Q754R probably benign Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rgs12 A T 5: 35,187,366 (GRCm39) K213* probably null Het
Serpina3m T C 12: 104,355,585 (GRCm39) L84P probably damaging Het
Tab2 T C 10: 7,796,177 (GRCm39) T102A possibly damaging Het
Tagln3 G T 16: 45,544,599 (GRCm39) A24E probably benign Het
Tanc2 A G 11: 105,801,114 (GRCm39) E1110G possibly damaging Het
Tcf3 T C 10: 80,252,733 (GRCm39) probably null Het
Tmem14a T C 1: 21,299,769 (GRCm39) probably benign Het
Ttn T A 2: 76,748,275 (GRCm39) E4258V possibly damaging Het
Ubr4 G A 4: 139,213,362 (GRCm39) D5104N possibly damaging Het
Ugt2b37 C G 5: 87,388,705 (GRCm39) A503P probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r88 A T 7: 12,912,258 (GRCm39) M205L possibly damaging Het
Vmn2r109 C T 17: 20,760,932 (GRCm39) M808I probably benign Het
Wdr72 G T 9: 74,062,323 (GRCm39) V490L probably damaging Het
Zfp998 A T 13: 66,580,161 (GRCm39) H107Q probably benign Het
Zgrf1 T A 3: 127,375,096 (GRCm39) V785E probably damaging Het
Zswim7 A T 11: 62,171,955 (GRCm39) probably benign Het
Other mutations in Zfp1004
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0254:Zfp1004 UTSW 2 150,033,784 (GRCm39) missense possibly damaging 0.78
R0505:Zfp1004 UTSW 2 150,035,000 (GRCm39) nonsense probably null
R0562:Zfp1004 UTSW 2 150,034,494 (GRCm39) missense probably damaging 1.00
R1239:Zfp1004 UTSW 2 150,033,891 (GRCm39) missense possibly damaging 0.94
R1878:Zfp1004 UTSW 2 150,034,989 (GRCm39) missense probably damaging 1.00
R1966:Zfp1004 UTSW 2 150,033,827 (GRCm39) missense probably benign 0.00
R2001:Zfp1004 UTSW 2 150,034,867 (GRCm39) missense probably benign 0.00
R2208:Zfp1004 UTSW 2 150,035,065 (GRCm39) missense probably benign 0.40
R3110:Zfp1004 UTSW 2 150,034,141 (GRCm39) missense probably damaging 1.00
R3112:Zfp1004 UTSW 2 150,034,141 (GRCm39) missense probably damaging 1.00
R4135:Zfp1004 UTSW 2 150,023,788 (GRCm39) splice site probably benign
R4299:Zfp1004 UTSW 2 150,032,653 (GRCm39) missense probably damaging 1.00
R4579:Zfp1004 UTSW 2 150,034,143 (GRCm39) missense probably damaging 1.00
R4818:Zfp1004 UTSW 2 150,033,981 (GRCm39) missense probably damaging 1.00
R4894:Zfp1004 UTSW 2 150,033,899 (GRCm39) nonsense probably null
R5432:Zfp1004 UTSW 2 150,033,901 (GRCm39) missense possibly damaging 0.68
R5669:Zfp1004 UTSW 2 150,034,098 (GRCm39) missense probably benign 0.09
R6106:Zfp1004 UTSW 2 150,034,725 (GRCm39) missense probably damaging 1.00
R7450:Zfp1004 UTSW 2 150,035,046 (GRCm39) missense probably benign 0.04
R8011:Zfp1004 UTSW 2 150,034,266 (GRCm39) missense possibly damaging 0.70
R8519:Zfp1004 UTSW 2 150,034,700 (GRCm39) missense probably benign 0.37
R9482:Zfp1004 UTSW 2 150,034,711 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGACAATTGTCTTTGCAGGCATG -3'
(R):5'- AGAGAACTGGGACTTGCAAAATCTT -3'

Sequencing Primer
(F):5'- ATACTGAACAGCTGCTCTCTGAG -3'
(R):5'- CTGGGACTTGCAAAATCTTTACCAC -3'
Posted On 2018-09-12