Incidental Mutation 'IGL02657:Zfc3h1'
ID302400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfc3h1
Ensembl Gene ENSMUSG00000034163
Gene Namezinc finger, C3H1-type containing
SynonymsCcdc131, Psrc2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.933) question?
Stock #IGL02657
Quality Score
Status
Chromosome10
Chromosomal Location115384959-115432772 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115411954 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 1021 (T1021A)
Ref Sequence ENSEMBL: ENSMUSP00000044069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036044]
Predicted Effect possibly damaging
Transcript: ENSMUST00000036044
AA Change: T1021A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044069
Gene: ENSMUSG00000034163
AA Change: T1021A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 29 90 N/A INTRINSIC
low complexity region 120 132 N/A INTRINSIC
low complexity region 143 214 N/A INTRINSIC
coiled coil region 361 393 N/A INTRINSIC
low complexity region 399 432 N/A INTRINSIC
coiled coil region 436 491 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 564 583 N/A INTRINSIC
low complexity region 595 619 N/A INTRINSIC
low complexity region 623 636 N/A INTRINSIC
low complexity region 716 729 N/A INTRINSIC
low complexity region 752 763 N/A INTRINSIC
coiled coil region 826 889 N/A INTRINSIC
coiled coil region 968 1000 N/A INTRINSIC
low complexity region 1001 1015 N/A INTRINSIC
Pfam:zf-C3H1 1187 1208 1.3e-11 PFAM
HAT 1384 1416 1.11e0 SMART
HAT 1418 1449 4.35e2 SMART
Blast:HAT 1495 1538 2e-9 BLAST
HAT 1653 1685 3.31e1 SMART
HAT 1762 1797 7.03e1 SMART
HAT 1922 1954 1.29e-1 SMART
low complexity region 1975 1992 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,834,822 V120M possibly damaging Het
Aldh1l1 T C 6: 90,590,794 L680P probably damaging Het
Alox12 A T 11: 70,247,278 D410E probably benign Het
Amt T A 9: 108,301,380 V365E probably damaging Het
Ano9 A G 7: 141,107,440 S321P probably damaging Het
Atp2c2 A T 8: 119,753,032 I767F probably damaging Het
Bag1 A T 4: 40,936,643 Y338N probably benign Het
Bcr T A 10: 75,154,964 D767E probably benign Het
Chfr A T 5: 110,154,839 Q350L probably damaging Het
Cops3 A T 11: 59,830,217 L124H probably damaging Het
Ddx60 T C 8: 61,984,115 Y988H probably benign Het
Dnajc2 A T 5: 21,770,481 probably benign Het
Dym C T 18: 75,082,456 Q238* probably null Het
Fam126b A T 1: 58,535,402 W327R probably damaging Het
Fbn1 A T 2: 125,352,025 C1341S possibly damaging Het
Fryl G T 5: 73,054,860 N2308K probably benign Het
Gbp2b G T 3: 142,604,112 R221L probably damaging Het
Gm4070 T C 7: 105,896,765 K2360R probably damaging Het
Gpat2 A G 2: 127,427,331 N8S probably benign Het
Ift52 A G 2: 163,045,215 D379G probably damaging Het
Inhbe C A 10: 127,350,776 L178F probably damaging Het
Ipo5 T C 14: 120,943,800 Y913H possibly damaging Het
Kif21b T A 1: 136,172,230 D1507E possibly damaging Het
Lnx2 A G 5: 147,028,174 V413A probably damaging Het
Lrrc40 C A 3: 158,036,773 F16L probably damaging Het
Magi2 A G 5: 19,227,583 K99E probably damaging Het
Me3 A G 7: 89,846,253 I357M probably benign Het
Med30 A G 15: 52,719,365 Y66C probably benign Het
Mief2 A T 11: 60,730,957 S118C probably damaging Het
Mylip A G 13: 45,391,246 S49G probably benign Het
Ncoa7 T A 10: 30,652,976 D107V probably damaging Het
Nvl C A 1: 181,106,976 V655F probably damaging Het
Olfml2b C T 1: 170,681,076 T501I probably benign Het
Ormdl2 T C 10: 128,820,317 I40V probably benign Het
Pde6b G T 5: 108,420,276 probably benign Het
Ralgapa1 A C 12: 55,673,507 L1785W probably damaging Het
Rnf112 A T 11: 61,450,252 probably null Het
Sema3c T A 5: 17,662,974 Y128N probably damaging Het
Sema3c A T 5: 17,576,868 M1L possibly damaging Het
Sema4b G A 7: 80,217,041 G255D probably damaging Het
Setd1a C T 7: 127,795,825 probably benign Het
Sirpb1a A C 3: 15,417,051 S72R possibly damaging Het
Slu7 T A 11: 43,442,022 probably null Het
Spata19 T C 9: 27,397,980 V59A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suclg1 T A 6: 73,260,521 V83E probably damaging Het
Syncrip G T 9: 88,456,404 R536S probably benign Het
Tap2 T C 17: 34,205,458 V55A probably damaging Het
Tekt4 T C 17: 25,473,758 I186T possibly damaging Het
Trpc6 C A 9: 8,643,601 D462E possibly damaging Het
Ubqln3 T G 7: 104,141,963 T307P probably damaging Het
Vmn1r64 A T 7: 5,883,728 I272K probably benign Het
Xpr1 T C 1: 155,290,280 T574A probably benign Het
Zfp512 A T 5: 31,471,157 H159L probably damaging Het
Other mutations in Zfc3h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00698:Zfc3h1 APN 10 115419832 missense possibly damaging 0.92
IGL00793:Zfc3h1 APN 10 115416874 missense probably benign 0.00
IGL01349:Zfc3h1 APN 10 115423448 missense probably damaging 1.00
IGL01431:Zfc3h1 APN 10 115423223 missense possibly damaging 0.49
IGL02273:Zfc3h1 APN 10 115427099 missense probably benign
IGL02382:Zfc3h1 APN 10 115416876 nonsense probably null
IGL02397:Zfc3h1 APN 10 115407985 missense probably damaging 1.00
IGL02826:Zfc3h1 APN 10 115400904 missense probably benign 0.42
gnatcatcher UTSW 10 115400742 missense probably benign 0.39
vireo UTSW 10 115419901 missense probably benign 0.01
warbler UTSW 10 115406483 missense probably damaging 1.00
PIT4260001:Zfc3h1 UTSW 10 115390889 missense probably damaging 0.99
PIT4354001:Zfc3h1 UTSW 10 115427039 nonsense probably null
R0062:Zfc3h1 UTSW 10 115416753 missense probably benign 0.00
R0062:Zfc3h1 UTSW 10 115416753 missense probably benign 0.00
R0067:Zfc3h1 UTSW 10 115423474 missense possibly damaging 0.88
R0067:Zfc3h1 UTSW 10 115423474 missense possibly damaging 0.88
R0104:Zfc3h1 UTSW 10 115415287 missense possibly damaging 0.66
R0178:Zfc3h1 UTSW 10 115406725 splice site probably benign
R0355:Zfc3h1 UTSW 10 115409113 missense possibly damaging 0.80
R0619:Zfc3h1 UTSW 10 115420810 missense possibly damaging 0.92
R0731:Zfc3h1 UTSW 10 115410632 missense probably benign 0.00
R0828:Zfc3h1 UTSW 10 115401707 missense possibly damaging 0.68
R0866:Zfc3h1 UTSW 10 115427716 missense probably benign 0.00
R1196:Zfc3h1 UTSW 10 115411961 missense probably damaging 0.99
R1455:Zfc3h1 UTSW 10 115412108 missense probably benign 0.11
R1515:Zfc3h1 UTSW 10 115416742 missense probably benign 0.29
R1617:Zfc3h1 UTSW 10 115390922 missense probably benign 0.01
R1640:Zfc3h1 UTSW 10 115406901 splice site probably null
R1959:Zfc3h1 UTSW 10 115423253 missense probably benign 0.34
R2039:Zfc3h1 UTSW 10 115406483 missense probably damaging 1.00
R3430:Zfc3h1 UTSW 10 115410523 splice site probably benign
R3691:Zfc3h1 UTSW 10 115420690 missense probably benign
R3909:Zfc3h1 UTSW 10 115419901 missense probably benign 0.01
R4235:Zfc3h1 UTSW 10 115418799 missense probably benign 0.32
R4684:Zfc3h1 UTSW 10 115423385 missense probably benign 0.03
R4816:Zfc3h1 UTSW 10 115415694 missense probably benign 0.16
R4881:Zfc3h1 UTSW 10 115400742 missense probably benign 0.39
R4883:Zfc3h1 UTSW 10 115410642 missense probably damaging 1.00
R5038:Zfc3h1 UTSW 10 115404211 missense probably benign 0.16
R5068:Zfc3h1 UTSW 10 115418783 nonsense probably null
R5069:Zfc3h1 UTSW 10 115418783 nonsense probably null
R5070:Zfc3h1 UTSW 10 115418783 nonsense probably null
R5155:Zfc3h1 UTSW 10 115412121 missense possibly damaging 0.64
R5190:Zfc3h1 UTSW 10 115418692 missense probably damaging 1.00
R5499:Zfc3h1 UTSW 10 115410693 missense probably damaging 1.00
R5932:Zfc3h1 UTSW 10 115400910 missense probably benign 0.44
R5935:Zfc3h1 UTSW 10 115431357 intron probably benign
R6165:Zfc3h1 UTSW 10 115420669 missense probably benign 0.30
R6182:Zfc3h1 UTSW 10 115390859 missense probably benign 0.00
R6262:Zfc3h1 UTSW 10 115413976 missense probably damaging 1.00
R6382:Zfc3h1 UTSW 10 115407908 missense probably benign 0.06
R6392:Zfc3h1 UTSW 10 115401748 missense probably damaging 1.00
R6539:Zfc3h1 UTSW 10 115412002 missense probably benign 0.26
R6723:Zfc3h1 UTSW 10 115420733 missense probably benign 0.34
R7339:Zfc3h1 UTSW 10 115403300 missense probably damaging 1.00
R7381:Zfc3h1 UTSW 10 115424630 missense probably benign
R7404:Zfc3h1 UTSW 10 115415248 missense probably damaging 0.96
Posted On2015-04-16