Incidental Mutation 'IGL02060:Zcchc14'
ID 185364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zcchc14
Ensembl Gene ENSMUSG00000061410
Gene Name zinc finger, CCHC domain containing 14
Synonyms Bdg29
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02060
Quality Score
Status
Chromosome 8
Chromosomal Location 122325442-122379640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122330634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 910 (S910G)
Ref Sequence ENSEMBL: ENSMUSP00000040360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046386] [ENSMUST00000127664]
AlphaFold Q8VIG0
Predicted Effect probably damaging
Transcript: ENSMUST00000046386
AA Change: S910G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: S910G

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
low complexity region 129 145 N/A INTRINSIC
low complexity region 206 225 N/A INTRINSIC
low complexity region 246 265 N/A INTRINSIC
Blast:SAM 299 349 2e-25 BLAST
SCOP:d1kw4a_ 307 358 1e-6 SMART
low complexity region 422 432 N/A INTRINSIC
low complexity region 438 454 N/A INTRINSIC
low complexity region 532 543 N/A INTRINSIC
low complexity region 709 790 N/A INTRINSIC
low complexity region 791 808 N/A INTRINSIC
ZnF_C2HC 914 930 3.44e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139379
Predicted Effect unknown
Transcript: ENSMUST00000154725
AA Change: S207G
SMART Domains Protein: ENSMUSP00000120570
Gene: ENSMUSG00000061410
AA Change: S207G

DomainStartEndE-ValueType
low complexity region 7 88 N/A INTRINSIC
low complexity region 89 106 N/A INTRINSIC
ZnF_C2HC 212 228 3.44e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,603 (GRCm39) I178F probably damaging Het
Aff1 T C 5: 103,931,715 (GRCm39) V111A possibly damaging Het
Aox1 T G 1: 58,137,114 (GRCm39) I1168R possibly damaging Het
Atf6 T C 1: 170,646,989 (GRCm39) R295G probably damaging Het
Blm C A 7: 80,164,328 (GRCm39) probably benign Het
Cse1l A T 2: 166,772,573 (GRCm39) L413F probably damaging Het
Dip2c T C 13: 9,672,666 (GRCm39) V1024A probably damaging Het
Fam13c A T 10: 70,388,971 (GRCm39) E498V probably damaging Het
Fat4 A G 3: 39,064,420 (GRCm39) E4792G probably damaging Het
Gramd1a A T 7: 30,829,996 (GRCm39) L151* probably null Het
Igbp1b G T 6: 138,634,982 (GRCm39) A154E probably damaging Het
Itga9 A G 9: 118,490,500 (GRCm39) K277R probably damaging Het
Klra10 T C 6: 130,249,688 (GRCm39) Y199C probably damaging Het
Lgalsl2 A G 7: 5,362,563 (GRCm39) T65A probably damaging Het
Mospd3 T C 5: 137,598,266 (GRCm39) Y85C probably damaging Het
Nol6 C T 4: 41,117,700 (GRCm39) A887T probably damaging Het
Or4a27 A T 2: 88,559,907 (GRCm39) F12Y probably damaging Het
Or4z4 A G 19: 12,076,824 (GRCm39) Y60H probably damaging Het
Or5p57 G T 7: 107,665,878 (GRCm39) F42L probably benign Het
Or9g4 C T 2: 85,505,178 (GRCm39) V106I probably benign Het
Pcdhb17 A G 18: 37,619,469 (GRCm39) T420A probably damaging Het
Pgghg T C 7: 140,526,546 (GRCm39) V646A probably benign Het
Prkg2 A G 5: 99,172,374 (GRCm39) S114P probably benign Het
Rela G T 19: 5,688,628 (GRCm39) K28N probably damaging Het
Rhbdf2 G T 11: 116,491,452 (GRCm39) A598E probably damaging Het
Ryr2 C T 13: 11,762,450 (GRCm39) D1454N probably damaging Het
Sdk1 C T 5: 141,938,767 (GRCm39) L397F possibly damaging Het
Sh3pxd2a C T 19: 47,361,817 (GRCm39) probably benign Het
Slc9a2 T A 1: 40,795,453 (GRCm39) V518E probably damaging Het
Slco1a7 T A 6: 141,700,134 (GRCm39) M133L probably benign Het
Snapc1 A G 12: 74,014,810 (GRCm39) Y105C probably damaging Het
Sult2a8 A G 7: 14,159,326 (GRCm39) S98P probably damaging Het
Tmem30c T A 16: 57,111,261 (GRCm39) M4L probably benign Het
Trim71 T C 9: 114,342,321 (GRCm39) I654V possibly damaging Het
Uroc1 A G 6: 90,315,237 (GRCm39) S133G probably benign Het
Vmn2r100 A G 17: 19,741,516 (GRCm39) N76S possibly damaging Het
Other mutations in Zcchc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Zcchc14 APN 8 122,331,354 (GRCm39) unclassified probably benign
IGL02455:Zcchc14 APN 8 122,333,009 (GRCm39) unclassified probably benign
IGL03196:Zcchc14 APN 8 122,335,877 (GRCm39) unclassified probably benign
P0033:Zcchc14 UTSW 8 122,336,898 (GRCm39) intron probably benign
R0483:Zcchc14 UTSW 8 122,355,388 (GRCm39) intron probably benign
R0639:Zcchc14 UTSW 8 122,332,188 (GRCm39) nonsense probably null
R1013:Zcchc14 UTSW 8 122,333,664 (GRCm39) unclassified probably benign
R1129:Zcchc14 UTSW 8 122,335,154 (GRCm39) unclassified probably benign
R1546:Zcchc14 UTSW 8 122,331,002 (GRCm39) intron probably benign
R1563:Zcchc14 UTSW 8 122,330,718 (GRCm39) missense probably benign 0.10
R1861:Zcchc14 UTSW 8 122,335,990 (GRCm39) unclassified probably benign
R2200:Zcchc14 UTSW 8 122,332,167 (GRCm39) unclassified probably benign
R2419:Zcchc14 UTSW 8 122,330,675 (GRCm39) missense probably damaging 0.99
R4246:Zcchc14 UTSW 8 122,331,031 (GRCm39) small deletion probably benign
R4249:Zcchc14 UTSW 8 122,331,031 (GRCm39) small deletion probably benign
R4424:Zcchc14 UTSW 8 122,378,680 (GRCm39) intron probably benign
R4470:Zcchc14 UTSW 8 122,378,498 (GRCm39) intron probably benign
R4520:Zcchc14 UTSW 8 122,335,834 (GRCm39) unclassified probably benign
R4681:Zcchc14 UTSW 8 122,335,339 (GRCm39) unclassified probably benign
R5253:Zcchc14 UTSW 8 122,345,433 (GRCm39) intron probably benign
R5314:Zcchc14 UTSW 8 122,335,337 (GRCm39) unclassified probably benign
R5591:Zcchc14 UTSW 8 122,332,187 (GRCm39) unclassified probably benign
R5746:Zcchc14 UTSW 8 122,331,378 (GRCm39) unclassified probably benign
R5781:Zcchc14 UTSW 8 122,331,332 (GRCm39) unclassified probably benign
R5897:Zcchc14 UTSW 8 122,331,899 (GRCm39) unclassified probably benign
R5930:Zcchc14 UTSW 8 122,338,097 (GRCm39) intron probably benign
R5963:Zcchc14 UTSW 8 122,355,362 (GRCm39) intron probably benign
R6364:Zcchc14 UTSW 8 122,331,598 (GRCm39) unclassified probably benign
R6562:Zcchc14 UTSW 8 122,330,842 (GRCm39) missense probably damaging 0.99
R6579:Zcchc14 UTSW 8 122,331,206 (GRCm39) intron probably benign
R6592:Zcchc14 UTSW 8 122,331,378 (GRCm39) unclassified probably benign
R6699:Zcchc14 UTSW 8 122,335,355 (GRCm39) unclassified probably benign
R7195:Zcchc14 UTSW 8 122,335,200 (GRCm39) missense unknown
R7420:Zcchc14 UTSW 8 122,378,530 (GRCm39) intron probably benign
R7490:Zcchc14 UTSW 8 122,331,756 (GRCm39) missense unknown
R7597:Zcchc14 UTSW 8 122,335,239 (GRCm39) missense unknown
R7758:Zcchc14 UTSW 8 122,331,428 (GRCm39) missense unknown
R7773:Zcchc14 UTSW 8 122,378,514 (GRCm39) missense unknown
R7831:Zcchc14 UTSW 8 122,331,984 (GRCm39) missense not run
R7889:Zcchc14 UTSW 8 122,331,634 (GRCm39) missense unknown
R7919:Zcchc14 UTSW 8 122,330,912 (GRCm39) missense probably damaging 1.00
R9000:Zcchc14 UTSW 8 122,336,880 (GRCm39) missense unknown
R9124:Zcchc14 UTSW 8 122,331,969 (GRCm39) missense unknown
R9667:Zcchc14 UTSW 8 122,331,863 (GRCm39) missense unknown
Posted On 2014-05-07