Incidental Mutation 'R0009:Zfp646'
ID 40473
Institutional Source Beutler Lab
Gene Symbol Zfp646
Ensembl Gene ENSMUSG00000049739
Gene Name zinc finger protein 646
Synonyms
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R0009 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 127476081-127485168 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127479903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 693 (D693E)
Ref Sequence ENSEMBL: ENSMUSP00000052641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000054415] [ENSMUST00000106262] [ENSMUST00000106263] [ENSMUST00000131000]
AlphaFold Q6NV66
Predicted Effect probably damaging
Transcript: ENSMUST00000050383
AA Change: D693E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: D693E

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: 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 noncoding transcript
Transcript: ENSMUST00000150961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205364
Predicted Effect unknown
Transcript: ENSMUST00000206340
AA Change: D473E
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,791,482 (GRCm39) probably benign Het
Abcg4 T G 9: 44,188,946 (GRCm39) probably benign Het
Afm C A 5: 90,693,243 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Aplnr T A 2: 84,967,620 (GRCm39) probably null Het
Arih2 T A 9: 108,488,926 (GRCm39) H264L probably damaging Het
Atp1a1 A T 3: 101,487,151 (GRCm39) I886N possibly damaging Het
Bmf A T 2: 118,380,103 (GRCm39) V14E probably damaging Het
Ccdc116 T C 16: 16,961,903 (GRCm39) E15G probably damaging Het
Ccdc175 T C 12: 72,182,739 (GRCm39) N427D possibly damaging Het
Cfap53 A G 18: 74,432,247 (GRCm39) H45R probably benign Het
Chd3 A G 11: 69,240,732 (GRCm39) L1569P probably damaging Het
Cntn2 G A 1: 132,443,918 (GRCm39) Q457* probably null Het
Coro1a A T 7: 126,300,585 (GRCm39) probably benign Het
Cracr2b T A 7: 141,043,672 (GRCm39) L91Q probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dip2b T A 15: 100,067,193 (GRCm39) L565Q probably damaging Het
Dip2c T A 13: 9,671,939 (GRCm39) C1004S probably damaging Het
Dnah11 A T 12: 118,009,257 (GRCm39) I2135N possibly damaging Het
Dnah14 A G 1: 181,596,972 (GRCm39) probably benign Het
Dnase1 T C 16: 3,856,810 (GRCm39) V147A probably damaging Het
Dusp8 T C 7: 141,635,791 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,534,636 (GRCm39) Y1828H probably damaging Het
Flvcr1 A G 1: 190,740,388 (GRCm39) V544A probably benign Het
Fsd1l T C 4: 53,687,209 (GRCm39) V311A probably benign Het
Glud1 G A 14: 34,056,225 (GRCm39) G300S probably benign Het
Gm4847 C T 1: 166,458,055 (GRCm39) V433I probably benign Het
Gstm3 T G 3: 107,875,156 (GRCm39) Y62S probably damaging Het
Gtse1 C T 15: 85,746,636 (GRCm39) P151S probably benign Het
Herc2 T C 7: 55,857,560 (GRCm39) S4048P probably benign Het
Hp1bp3 T A 4: 137,948,994 (GRCm39) I19K probably benign Het
Htr7 C A 19: 36,018,940 (GRCm39) probably benign Het
Il1a C T 2: 129,150,994 (GRCm39) D10N probably damaging Het
Il22ra2 A T 10: 19,500,206 (GRCm39) N39I probably damaging Het
Kcnn4 T C 7: 24,078,680 (GRCm39) C267R possibly damaging Het
Larp1 A G 11: 57,946,299 (GRCm39) K879R possibly damaging Het
Lcn5 T A 2: 25,551,417 (GRCm39) probably benign Het
Lep T A 6: 29,068,971 (GRCm39) C7* probably null Het
Magi2 A T 5: 20,816,053 (GRCm39) Y747F probably benign Het
Mast4 T C 13: 102,878,566 (GRCm39) T1223A probably damaging Het
Mcc C T 18: 44,579,000 (GRCm39) E803K probably damaging Het
Mtmr4 T C 11: 87,502,334 (GRCm39) I796T probably benign Het
Myef2 A T 2: 124,950,898 (GRCm39) D312E probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo19 T A 11: 84,778,995 (GRCm39) probably null Het
Naa15 T G 3: 51,377,640 (GRCm39) H763Q probably damaging Het
Pde5a C T 3: 122,618,551 (GRCm39) probably benign Het
Plpp2 C T 10: 79,363,078 (GRCm39) R184H probably benign Het
Rab19 T G 6: 39,366,621 (GRCm39) L179V probably damaging Het
Rims2 T A 15: 39,398,362 (GRCm39) M1087K probably damaging Het
Riox2 C A 16: 59,309,730 (GRCm39) D361E probably benign Het
Sh3rf1 T A 8: 61,679,327 (GRCm39) V123E probably damaging Het
Slc35e1 A T 8: 73,238,553 (GRCm39) N318K probably damaging Het
Slc9a2 A T 1: 40,802,762 (GRCm39) E604V probably benign Het
Srp72 T C 5: 77,135,732 (GRCm39) S221P probably damaging Het
Tbx19 A T 1: 164,988,089 (GRCm39) S15T possibly damaging Het
Tcea2 A G 2: 181,327,610 (GRCm39) T112A probably benign Het
Tesk1 T A 4: 43,445,368 (GRCm39) D230E probably damaging Het
Tm4sf5 C T 11: 70,401,538 (GRCm39) A179V probably damaging Het
Tnr G T 1: 159,679,986 (GRCm39) G320V probably damaging Het
Trappc11 A T 8: 47,956,355 (GRCm39) C874S possibly damaging Het
Trpm3 T A 19: 22,891,810 (GRCm39) Y885N probably damaging Het
Unc5a T A 13: 55,150,692 (GRCm39) C505S probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Xpo5 T C 17: 46,515,712 (GRCm39) probably benign Het
Zfp637 C A 6: 117,822,629 (GRCm39) H252Q 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
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
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'- GCCTGTGCCAAGCATTTCCATACC -3'
(R):5'- CACAGAAGCCAGTTTCATTGCACTC -3'

Sequencing Primer
(F):5'- CATGGCTGCGATGAAAAGC -3'
(R):5'- ATTGCACTCATCACCTGGGG -3'
Posted On 2013-05-23