Incidental Mutation 'R5610:Zfp646'
ID 440304
Institutional Source Beutler Lab
Gene Symbol Zfp646
Ensembl Gene ENSMUSG00000049739
Gene Name zinc finger protein 646
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R5610 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127476081-127485168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127478530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 236 (C236S)
Ref Sequence ENSEMBL: ENSMUSP00000115499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000054415] [ENSMUST00000106261] [ENSMUST00000106262] [ENSMUST00000106263] [ENSMUST00000131000] [ENSMUST00000144721]
AlphaFold Q6NV66
Predicted Effect possibly damaging
Transcript: ENSMUST00000050383
AA Change: C236S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: C236S

DomainStartEndE-ValueType
ZnF_C2H2 8 31 1.36e-2 SMART
ZnF_C2H2 67 89 5.29e-5 SMART
ZnF_C2H2 231 253 3.21e-4 SMART
ZnF_C2H2 258 280 9.58e-3 SMART
ZnF_C2H2 286 308 2.24e-3 SMART
low complexity region 345 362 N/A INTRINSIC
ZnF_C2H2 366 388 5.42e-2 SMART
ZnF_C2H2 393 415 8.34e-3 SMART
ZnF_C2H2 457 479 5.9e-3 SMART
ZnF_C2H2 484 506 4.87e-4 SMART
ZnF_C2H2 566 588 2.32e-1 SMART
ZnF_C2H2 606 628 6.32e-3 SMART
ZnF_C2H2 633 655 1.53e-1 SMART
low complexity region 737 750 N/A INTRINSIC
low complexity region 786 797 N/A INTRINSIC
ZnF_C2H2 806 828 2.17e-1 SMART
ZnF_C2H2 833 855 3.69e-4 SMART
ZnF_C2H2 866 889 1.16e-1 SMART
low complexity region 890 911 N/A INTRINSIC
ZnF_C2H2 941 961 9.31e1 SMART
ZnF_C2H2 1035 1057 1.95e-3 SMART
ZnF_C2H2 1062 1084 3.39e-3 SMART
low complexity region 1149 1163 N/A INTRINSIC
ZnF_C2H2 1170 1192 1.58e-3 SMART
ZnF_C2H2 1197 1219 5.42e-2 SMART
ZnF_C2H2 1225 1247 3.69e-4 SMART
ZnF_C2H2 1266 1286 5.12e1 SMART
ZnF_C2H2 1293 1315 3.69e-4 SMART
ZnF_C2H2 1333 1355 3.11e-2 SMART
ZnF_C2H2 1550 1572 5.9e-3 SMART
ZnF_C2H2 1640 1662 1.08e-1 SMART
ZnF_C2H2 1667 1689 4.11e-2 SMART
ZnF_C2H2 1695 1717 4.11e-2 SMART
ZnF_C2H2 1724 1746 1.45e-2 SMART
low complexity region 1751 1764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000054415
SMART Domains Protein: ENSMUSP00000056105
Gene: ENSMUSG00000049728

DomainStartEndE-ValueType
ZnF_C2H2 22 44 7.67e-2 SMART
ZnF_C2H2 84 106 9.44e-2 SMART
ZnF_C2H2 112 134 3.63e-3 SMART
ZnF_C2H2 140 162 2.36e-2 SMART
ZnF_C2H2 168 190 1.98e-4 SMART
ZnF_C2H2 196 218 2.91e-2 SMART
ZnF_C2H2 224 246 1.26e-2 SMART
ZnF_C2H2 252 274 5.21e-4 SMART
ZnF_C2H2 280 302 2.57e-3 SMART
ZnF_C2H2 308 330 5.59e-4 SMART
ZnF_C2H2 336 358 1.79e-2 SMART
ZnF_C2H2 364 386 7.9e-4 SMART
ZnF_C2H2 392 414 5.5e-3 SMART
low complexity region 428 470 N/A INTRINSIC
ZnF_C2H2 516 538 3.63e-3 SMART
ZnF_C2H2 544 566 1.3e-4 SMART
ZnF_C2H2 572 594 5.59e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106261
SMART Domains Protein: ENSMUSP00000101868
Gene: ENSMUSG00000049728

DomainStartEndE-ValueType
ZnF_C2H2 22 44 7.67e-2 SMART
ZnF_C2H2 84 106 9.44e-2 SMART
ZnF_C2H2 112 134 3.63e-3 SMART
ZnF_C2H2 140 162 2.36e-2 SMART
ZnF_C2H2 168 190 1.98e-4 SMART
ZnF_C2H2 196 218 2.91e-2 SMART
ZnF_C2H2 224 246 1.26e-2 SMART
ZnF_C2H2 252 274 5.21e-4 SMART
ZnF_C2H2 280 302 2.57e-3 SMART
ZnF_C2H2 308 330 5.59e-4 SMART
ZnF_C2H2 336 358 1.79e-2 SMART
ZnF_C2H2 364 386 7.9e-4 SMART
ZnF_C2H2 392 414 5.5e-3 SMART
low complexity region 428 470 N/A INTRINSIC
ZnF_C2H2 516 538 3.63e-3 SMART
ZnF_C2H2 544 566 1.3e-4 SMART
ZnF_C2H2 572 594 5.59e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106262
SMART Domains Protein: ENSMUSP00000101869
Gene: ENSMUSG00000049728

DomainStartEndE-ValueType
ZnF_C2H2 22 44 7.67e-2 SMART
ZnF_C2H2 84 106 9.44e-2 SMART
ZnF_C2H2 112 134 3.63e-3 SMART
ZnF_C2H2 140 162 2.36e-2 SMART
ZnF_C2H2 168 190 1.98e-4 SMART
ZnF_C2H2 196 218 2.91e-2 SMART
ZnF_C2H2 224 246 1.26e-2 SMART
ZnF_C2H2 252 274 5.21e-4 SMART
ZnF_C2H2 280 302 2.57e-3 SMART
ZnF_C2H2 308 330 5.59e-4 SMART
ZnF_C2H2 336 358 1.79e-2 SMART
ZnF_C2H2 364 386 7.9e-4 SMART
ZnF_C2H2 392 414 5.5e-3 SMART
low complexity region 428 470 N/A INTRINSIC
ZnF_C2H2 516 538 3.63e-3 SMART
ZnF_C2H2 544 566 1.3e-4 SMART
ZnF_C2H2 572 594 5.59e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106263
SMART Domains Protein: ENSMUSP00000101870
Gene: ENSMUSG00000049728

DomainStartEndE-ValueType
ZnF_C2H2 22 44 7.67e-2 SMART
ZnF_C2H2 84 106 9.44e-2 SMART
ZnF_C2H2 112 134 3.63e-3 SMART
ZnF_C2H2 140 162 2.36e-2 SMART
ZnF_C2H2 168 190 1.98e-4 SMART
ZnF_C2H2 196 218 2.91e-2 SMART
ZnF_C2H2 224 246 1.26e-2 SMART
ZnF_C2H2 252 274 5.21e-4 SMART
ZnF_C2H2 280 302 2.57e-3 SMART
ZnF_C2H2 308 330 5.59e-4 SMART
ZnF_C2H2 336 358 1.79e-2 SMART
ZnF_C2H2 364 386 7.9e-4 SMART
ZnF_C2H2 392 414 5.5e-3 SMART
low complexity region 428 470 N/A INTRINSIC
ZnF_C2H2 516 538 3.63e-3 SMART
ZnF_C2H2 544 566 1.3e-4 SMART
ZnF_C2H2 572 594 5.59e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131000
AA Change: C236S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739
AA Change: C236S

DomainStartEndE-ValueType
ZnF_C2H2 8 31 1.36e-2 SMART
ZnF_C2H2 67 89 5.29e-5 SMART
ZnF_C2H2 231 253 3.21e-4 SMART
ZnF_C2H2 258 280 9.58e-3 SMART
ZnF_C2H2 286 308 2.24e-3 SMART
low complexity region 345 362 N/A INTRINSIC
ZnF_C2H2 366 388 5.42e-2 SMART
ZnF_C2H2 393 415 8.34e-3 SMART
ZnF_C2H2 457 479 5.9e-3 SMART
ZnF_C2H2 484 506 4.87e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144721
SMART Domains Protein: ENSMUSP00000116730
Gene: ENSMUSG00000049728

DomainStartEndE-ValueType
ZnF_C2H2 22 44 7.67e-2 SMART
ZnF_C2H2 84 106 9.44e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000206340
AA Change: C16S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150961
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,982,156 (GRCm39) D247G possibly damaging Het
1700123K08Rik A G 5: 138,562,403 (GRCm39) probably null Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Accsl C A 2: 93,692,118 (GRCm39) probably null Het
Adad2 C T 8: 120,341,500 (GRCm39) R171C probably benign Het
Adgrv1 A C 13: 81,669,236 (GRCm39) L2440R probably damaging Het
Antxr1 A G 6: 87,232,845 (GRCm39) V239A probably damaging Het
Aoc1l2 G A 6: 48,907,953 (GRCm39) V318I probably benign Het
Arhgap28 G A 17: 68,203,235 (GRCm39) Q73* probably null Het
Arrdc5 C T 17: 56,604,846 (GRCm39) R147H probably benign Het
Ash1l T C 3: 88,930,492 (GRCm39) Y1990H probably damaging Het
Bank1 T C 3: 135,772,148 (GRCm39) E494G probably damaging Het
Bicral A T 17: 47,119,418 (GRCm39) I701N probably damaging Het
Bod1l T C 5: 41,979,217 (GRCm39) Y699C probably damaging Het
C3ar1 T G 6: 122,827,537 (GRCm39) T227P probably benign Het
Ccr3 C A 9: 123,829,518 (GRCm39) D284E probably damaging Het
Cdh13 T C 8: 119,578,462 (GRCm39) V163A possibly damaging Het
CK137956 C T 4: 127,840,440 (GRCm39) probably null Het
Cltc T C 11: 86,612,472 (GRCm39) S529G probably benign Het
Cplane2 C T 4: 140,947,177 (GRCm39) P186L probably benign Het
Ddx11 A G 17: 66,457,021 (GRCm39) K783E probably damaging Het
Dnah3 T A 7: 119,538,288 (GRCm39) probably null Het
Eef2k A G 7: 120,486,005 (GRCm39) H408R probably benign Het
Esr1 A G 10: 4,951,221 (GRCm39) K533R probably damaging Het
Fat1 T A 8: 45,406,109 (GRCm39) Y953* probably null Het
Fosl1 T A 19: 5,505,133 (GRCm39) probably null Het
Frmd4b A G 6: 97,283,752 (GRCm39) M373T probably benign Het
Gm1968 A G 16: 29,777,557 (GRCm39) noncoding transcript Het
Gpr26 T C 7: 131,568,694 (GRCm39) V13A possibly damaging Het
Gtf3c1 T C 7: 125,303,117 (GRCm39) N106S possibly damaging Het
Itgb8 T G 12: 119,134,429 (GRCm39) E546A probably damaging Het
Itpr3 C T 17: 27,337,540 (GRCm39) T2450M probably benign Het
Kif1a A T 1: 92,953,450 (GRCm39) Y1245N probably damaging Het
Klrb1f G A 6: 129,031,335 (GRCm39) probably null Het
Lars1 A G 18: 42,390,156 (GRCm39) L37P probably benign Het
Lnpk T C 2: 74,378,369 (GRCm39) T131A probably benign Het
Mob3c C T 4: 115,690,878 (GRCm39) T156I probably benign Het
Nadk T A 4: 155,668,628 (GRCm39) W100R probably damaging Het
Npy6r A T 18: 44,409,061 (GRCm39) I161F probably benign Het
Or4c107 A C 2: 88,789,170 (GRCm39) D120A probably damaging Het
Or6c204 G A 10: 129,022,426 (GRCm39) T288I probably damaging Het
Pcdhga3 A G 18: 37,808,276 (GRCm39) E243G possibly damaging Het
Pdss2 A G 10: 43,315,828 (GRCm39) T361A probably benign Het
Pkd1l2 G T 8: 117,769,059 (GRCm39) Q1198K probably benign Het
Prdx1 T A 4: 116,550,124 (GRCm39) I102N probably damaging Het
Prss1 G A 6: 41,438,147 (GRCm39) V25I probably benign Het
Pspc1 A G 14: 57,015,388 (GRCm39) Y77H probably damaging Het
Rnf5 T C 17: 34,820,712 (GRCm39) probably benign Het
Ryr1 C A 7: 28,811,399 (GRCm39) M235I probably benign Het
Sec24c A G 14: 20,741,893 (GRCm39) Y776C probably damaging Het
Sharpin A G 15: 76,234,253 (GRCm39) probably null Het
Slc12a4 C A 8: 106,676,845 (GRCm39) V482L possibly damaging Het
Slc38a1 C T 15: 96,514,022 (GRCm39) probably null Het
Smtn G T 11: 3,479,582 (GRCm39) T495N probably damaging Het
Sncaip A G 18: 53,001,991 (GRCm39) T171A probably benign Het
Sprr2e T C 3: 92,260,399 (GRCm39) *77R probably null Het
Syngap1 T A 17: 27,178,754 (GRCm39) D443E possibly damaging Het
Taldo1 T C 7: 140,972,205 (GRCm39) V24A probably damaging Het
Tfap2c T A 2: 172,391,778 (GRCm39) N8K probably benign Het
Tmem229a T C 6: 24,955,580 (GRCm39) Y58C probably damaging Het
Tubgcp3 T C 8: 12,689,577 (GRCm39) Y563C probably damaging Het
Ubr1 T A 2: 120,722,593 (GRCm39) D1342V probably benign Het
Usp7 C T 16: 8,534,374 (GRCm39) probably null Het
Wbp1 C T 6: 83,097,216 (GRCm39) G75D probably damaging Het
Zfp180 G T 7: 23,804,315 (GRCm39) V245F probably benign Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Other mutations in Zfp646
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Zfp646 APN 7 127,478,302 (GRCm39) missense possibly damaging 0.91
IGL01669:Zfp646 APN 7 127,478,137 (GRCm39) missense probably benign
IGL02571:Zfp646 APN 7 127,478,584 (GRCm39) missense probably damaging 1.00
R0009:Zfp646 UTSW 7 127,479,903 (GRCm39) missense probably damaging 0.96
R0084:Zfp646 UTSW 7 127,480,476 (GRCm39) missense possibly damaging 0.86
R0140:Zfp646 UTSW 7 127,482,678 (GRCm39) missense probably benign 0.41
R0394:Zfp646 UTSW 7 127,482,434 (GRCm39) missense possibly damaging 0.85
R0571:Zfp646 UTSW 7 127,481,138 (GRCm39) missense probably damaging 0.96
R0924:Zfp646 UTSW 7 127,482,982 (GRCm39) nonsense probably null
R0930:Zfp646 UTSW 7 127,482,982 (GRCm39) nonsense probably null
R1219:Zfp646 UTSW 7 127,482,292 (GRCm39) missense probably benign
R1221:Zfp646 UTSW 7 127,482,292 (GRCm39) missense probably benign
R1351:Zfp646 UTSW 7 127,482,683 (GRCm39) missense probably benign
R1370:Zfp646 UTSW 7 127,479,036 (GRCm39) missense probably damaging 1.00
R1503:Zfp646 UTSW 7 127,479,308 (GRCm39) missense probably damaging 1.00
R1605:Zfp646 UTSW 7 127,479,359 (GRCm39) splice site probably null
R1817:Zfp646 UTSW 7 127,482,292 (GRCm39) missense probably benign
R1818:Zfp646 UTSW 7 127,482,292 (GRCm39) missense probably benign
R1819:Zfp646 UTSW 7 127,482,292 (GRCm39) missense probably benign
R1838:Zfp646 UTSW 7 127,478,911 (GRCm39) missense probably damaging 1.00
R1870:Zfp646 UTSW 7 127,483,021 (GRCm39) missense possibly damaging 0.85
R2100:Zfp646 UTSW 7 127,481,359 (GRCm39) missense probably damaging 1.00
R2763:Zfp646 UTSW 7 127,479,210 (GRCm39) nonsense probably null
R4346:Zfp646 UTSW 7 127,478,681 (GRCm39) missense probably damaging 1.00
R4770:Zfp646 UTSW 7 127,482,649 (GRCm39) missense possibly damaging 0.83
R4824:Zfp646 UTSW 7 127,482,907 (GRCm39) missense probably benign 0.00
R4936:Zfp646 UTSW 7 127,480,933 (GRCm39) missense possibly damaging 0.93
R4937:Zfp646 UTSW 7 127,478,354 (GRCm39) missense probably benign 0.01
R5062:Zfp646 UTSW 7 127,479,671 (GRCm39) missense probably damaging 0.99
R5424:Zfp646 UTSW 7 127,481,875 (GRCm39) missense possibly damaging 0.72
R5729:Zfp646 UTSW 7 127,484,626 (GRCm39) missense probably damaging 0.99
R6112:Zfp646 UTSW 7 127,478,190 (GRCm39) missense possibly damaging 0.71
R6161:Zfp646 UTSW 7 127,477,897 (GRCm39) missense probably damaging 1.00
R6310:Zfp646 UTSW 7 127,483,079 (GRCm39) missense probably benign 0.13
R6331:Zfp646 UTSW 7 127,482,853 (GRCm39) missense probably damaging 0.99
R6436:Zfp646 UTSW 7 127,479,113 (GRCm39) missense probably benign 0.00
R6814:Zfp646 UTSW 7 127,482,505 (GRCm39) missense probably benign 0.17
R6872:Zfp646 UTSW 7 127,482,505 (GRCm39) missense probably benign 0.17
R6903:Zfp646 UTSW 7 127,479,892 (GRCm39) missense possibly damaging 0.91
R7018:Zfp646 UTSW 7 127,481,494 (GRCm39) missense probably benign
R7049:Zfp646 UTSW 7 127,479,199 (GRCm39) missense possibly damaging 0.93
R7121:Zfp646 UTSW 7 127,478,944 (GRCm39) missense possibly damaging 0.95
R7405:Zfp646 UTSW 7 127,477,968 (GRCm39) nonsense probably null
R8345:Zfp646 UTSW 7 127,483,082 (GRCm39) missense probably benign 0.12
R8545:Zfp646 UTSW 7 127,484,662 (GRCm39) missense probably benign
R8909:Zfp646 UTSW 7 127,478,515 (GRCm39) missense probably damaging 0.99
R8983:Zfp646 UTSW 7 127,480,777 (GRCm39) missense probably benign
R9001:Zfp646 UTSW 7 127,478,856 (GRCm39) missense probably damaging 0.96
R9018:Zfp646 UTSW 7 127,478,243 (GRCm39) missense probably benign
R9118:Zfp646 UTSW 7 127,480,810 (GRCm39) missense
R9414:Zfp646 UTSW 7 127,481,050 (GRCm39) missense probably damaging 0.99
Z1177:Zfp646 UTSW 7 127,479,804 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- CCAGATTCTAAAGGAGGTACGGC -3'
(R):5'- GATGTTCCAGCAGATCCCTG -3'

Sequencing Primer
(F):5'- CTAAAGGAGGTACGGCGGACTG -3'
(R):5'- TCCCTGGGGAGCCGAAAG -3'
Posted On 2016-11-08