Incidental Mutation 'R0084:Zfp646'
ID 19812
Institutional Source Beutler Lab
Gene Symbol Zfp646
Ensembl Gene ENSMUSG00000049739
Gene Name zinc finger protein 646
Synonyms
MMRRC Submission 038371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R0084 (G1)
Quality Score 181
Status Validated
Chromosome 7
Chromosomal Location 127476081-127485168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127480476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 884 (H884Q)
Ref Sequence ENSEMBL: ENSMUSP00000052641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000054415] [ENSMUST00000106262] [ENSMUST00000106263] [ENSMUST00000121394] [ENSMUST00000131000] [ENSMUST00000205300]
AlphaFold Q6NV66
Predicted Effect possibly damaging
Transcript: ENSMUST00000050383
AA Change: H884Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: H884Q

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: 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 benign
Transcript: ENSMUST00000121394
SMART Domains Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 38 268 3.91e-45 SMART
Tryp_SPc 300 520 9.95e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126662
SMART Domains Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

DomainStartEndE-ValueType
VKc 1 111 8.84e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131000
SMART Domains Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739

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 unknown
Transcript: ENSMUST00000206340
AA Change: H664Q
Predicted Effect probably benign
Transcript: ENSMUST00000205300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205364
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.0%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,927,423 (GRCm39) probably benign Het
Abcc9 A G 6: 142,604,277 (GRCm39) Y653H probably damaging Het
Acp3 A T 9: 104,191,564 (GRCm39) S241T probably benign Het
Acvr1 A G 2: 58,348,895 (GRCm39) probably null Het
Adgb T C 10: 10,272,088 (GRCm39) N832S possibly damaging Het
AI182371 A G 2: 34,975,714 (GRCm39) probably null Het
Anapc1 G A 2: 128,465,886 (GRCm39) probably benign Het
Apba1 T C 19: 23,889,861 (GRCm39) S420P possibly damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Bpifb2 A T 2: 153,733,011 (GRCm39) M365L probably benign Het
Btnl9 A T 11: 49,069,606 (GRCm39) N224K possibly damaging Het
Cntn1 A T 15: 92,215,798 (GRCm39) I944L probably benign Het
Cpa3 T C 3: 20,296,265 (GRCm39) probably benign Het
Dcaf11 C T 14: 55,806,700 (GRCm39) R468C probably benign Het
E4f1 T C 17: 24,663,056 (GRCm39) T750A possibly damaging Het
Ercc5 A G 1: 44,215,136 (GRCm39) K890E possibly damaging Het
Fbrsl1 A G 5: 110,527,381 (GRCm39) L262P probably damaging Het
Flnb A G 14: 7,935,979 (GRCm38) D2273G probably benign Het
Gm9848 A T 13: 113,244,776 (GRCm39) noncoding transcript Het
Hcrtr1 T A 4: 130,031,059 (GRCm39) H75L possibly damaging Het
Heatr9 A T 11: 83,403,721 (GRCm39) probably benign Het
Htatip2 G A 7: 49,409,420 (GRCm39) G58D probably damaging Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Lmntd1 G A 6: 145,350,254 (GRCm39) H234Y unknown Het
Ly6g2 T A 15: 75,089,624 (GRCm39) M44K probably benign Het
Map4k3 T C 17: 80,963,343 (GRCm39) K85E possibly damaging Het
Moxd2 T C 6: 40,856,342 (GRCm39) D510G probably null Het
Mpv17l2 A T 8: 71,217,190 (GRCm39) probably benign Het
Nbeal2 A G 9: 110,472,778 (GRCm39) probably null Het
Ncapd3 A G 9: 26,967,407 (GRCm39) D581G probably damaging Het
Ndufb5 T C 3: 32,791,352 (GRCm39) V33A probably benign Het
Or10a49 A T 7: 108,468,007 (GRCm39) M118K probably damaging Het
Osbpl1a T C 18: 12,890,669 (GRCm39) T524A probably benign Het
Otogl A C 10: 107,737,202 (GRCm39) S71A probably damaging Het
Ovol2 G T 2: 144,147,808 (GRCm39) N180K probably damaging Het
Pam A G 1: 97,823,774 (GRCm39) V219A probably benign Het
Paox C T 7: 139,712,359 (GRCm39) R197* probably null Het
Pax2 T A 19: 44,806,874 (GRCm39) Y290N probably damaging Het
Pik3ca T C 3: 32,516,937 (GRCm39) M933T possibly damaging Het
Ppfia4 G T 1: 134,227,164 (GRCm39) R1124S possibly damaging Het
Prkch T C 12: 73,744,761 (GRCm39) F258S possibly damaging Het
Rhob G A 12: 8,549,107 (GRCm39) R176C probably benign Het
Sbf2 A T 7: 110,041,573 (GRCm39) I326N possibly damaging Het
Scgb2b2 A T 7: 31,003,041 (GRCm39) E45D probably benign Het
Scube3 T A 17: 28,381,935 (GRCm39) D320E probably benign Het
Serpina1f A G 12: 103,659,847 (GRCm39) V145A possibly damaging Het
Slc28a2b A G 2: 122,353,314 (GRCm39) Y498C possibly damaging Het
Slc6a5 A C 7: 49,579,761 (GRCm39) I380L probably benign Het
Spag16 A G 1: 70,035,998 (GRCm39) N342S probably benign Het
Spata16 A G 3: 26,721,559 (GRCm39) T27A possibly damaging Het
Spock3 A C 8: 63,596,963 (GRCm39) K89T probably damaging Het
Tbc1d1 T C 5: 64,481,797 (GRCm39) V795A probably damaging Het
Tirap G T 9: 35,100,458 (GRCm39) H75Q probably benign Het
Tpk1 C A 6: 43,323,763 (GRCm39) V229L possibly damaging Het
Tshz2 A G 2: 169,726,286 (GRCm39) H294R probably damaging Het
Ttn A T 2: 76,703,043 (GRCm39) probably benign Het
Unc13d C T 11: 115,954,657 (GRCm39) V984M probably damaging Het
Zbtb43 A T 2: 33,343,996 (GRCm39) Y373N 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
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
R5610:Zfp646 UTSW 7 127,478,530 (GRCm39) missense probably damaging 1.00
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'- ACCCTCCAGGCATCTATCAATGCTC -3'
(R):5'- CTGCTCCTTCCAAATGGCTAGGAAC -3'

Sequencing Primer
(F):5'- AATGCTCTCTCTGTCCAAAGG -3'
(R):5'- GGTCATCATAGGTCTGACCACAG -3'
Posted On 2013-04-11