Incidental Mutation 'R5930:Zcchc14'
ID 460181
Institutional Source Beutler Lab
Gene Symbol Zcchc14
Ensembl Gene ENSMUSG00000061410
Gene Name zinc finger, CCHC domain containing 14
Synonyms Bdg29
MMRRC Submission 044125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5930 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 122325442-122379640 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 122338097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046386] [ENSMUST00000127664]
AlphaFold Q8VIG0
Predicted Effect unknown
Transcript: ENSMUST00000046386
AA Change: S139T
SMART Domains Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: S139T

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
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (102/109)
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,545,570 (GRCm39) V5572I probably benign Het
Agap1 C T 1: 89,770,818 (GRCm39) T656I probably damaging Het
Als2cl C T 9: 110,716,432 (GRCm39) R247W probably damaging Het
Ankfy1 A T 11: 72,603,071 (GRCm39) R33S probably benign Het
Ano5 T C 7: 51,235,079 (GRCm39) F671L probably damaging Het
Arhgap26 A G 18: 39,283,145 (GRCm39) M361V probably damaging Het
Bckdk A G 7: 127,505,145 (GRCm39) E175G probably damaging Het
Bptf G T 11: 106,964,022 (GRCm39) T1724K probably damaging Het
Btn2a2 T A 13: 23,670,398 (GRCm39) I112F probably damaging Het
Cln8 T A 8: 14,946,621 (GRCm39) W212R probably damaging Het
Cnbd1 T C 4: 18,886,119 (GRCm39) E300G probably benign Het
Cnksr3 T C 10: 7,092,993 (GRCm39) I173V probably benign Het
Cntn2 T A 1: 132,451,170 (GRCm39) D484V probably damaging Het
Cyp4a14 C A 4: 115,348,607 (GRCm39) G319V probably damaging Het
Cyp4f37 G A 17: 32,848,957 (GRCm39) R275Q possibly damaging Het
Def8 C T 8: 124,186,809 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,280 (GRCm39) V356A probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Dock6 A G 9: 21,735,712 (GRCm39) V1012A probably benign Het
Dus3l T A 17: 57,076,579 (GRCm39) N586K probably damaging Het
Dyrk2 T A 10: 118,696,173 (GRCm39) I362F probably damaging Het
Eeig2 A T 3: 108,887,468 (GRCm39) S265R probably benign Het
Erc2 T A 14: 27,498,815 (GRCm39) D230E probably damaging Het
Fat1 A G 8: 45,497,073 (GRCm39) H4186R probably benign Het
Fbxo44 A G 4: 148,241,052 (GRCm39) F179S probably damaging Het
Fech A G 18: 64,611,720 (GRCm39) probably null Het
Fer1l5 T A 1: 36,424,254 (GRCm39) C289* probably null Het
Fhl5 T A 4: 25,214,756 (GRCm39) D7V probably benign Het
Flvcr1 G T 1: 190,741,748 (GRCm39) T514K probably damaging Het
Fmo1 A T 1: 162,667,185 (GRCm39) probably null Het
Gabra6 G A 11: 42,198,268 (GRCm39) T384M probably benign Het
Gli3 A G 13: 15,723,210 (GRCm39) Y117C probably damaging Het
Gnao1 A G 8: 94,622,873 (GRCm39) D59G probably benign Het
Gria2 T C 3: 80,614,556 (GRCm39) I495V possibly damaging Het
Hnf1b C A 11: 83,754,811 (GRCm39) H161Q probably benign Het
Itga8 T A 2: 12,235,019 (GRCm39) D413V possibly damaging Het
Itpr3 A T 17: 27,329,895 (GRCm39) Q1563L possibly damaging Het
Kctd16 A G 18: 40,663,882 (GRCm39) N337S probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Krtap4-9 T A 11: 99,676,462 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Mchr1 T C 15: 81,122,044 (GRCm39) F265L probably damaging Het
Megf8 T A 7: 25,025,866 (GRCm39) Y83* probably null Het
Mettl18 A G 1: 163,824,746 (GRCm39) M356V probably null Het
Mrm1 G A 11: 84,710,018 (GRCm39) R61W probably damaging Het
Muc4 A T 16: 32,570,523 (GRCm39) T528S probably benign Het
Myef2 A T 2: 124,937,651 (GRCm39) L530* probably null Het
Nhlrc4 T C 17: 26,162,693 (GRCm39) E18G probably benign Het
Nisch C T 14: 30,895,102 (GRCm39) V1065I probably benign Het
Nlgn2 C T 11: 69,724,975 (GRCm39) R97H probably damaging Het
Nos2 T C 11: 78,828,741 (GRCm39) L321S probably damaging Het
Oaz3 T C 3: 94,343,717 (GRCm39) M49V possibly damaging Het
Olfm5 A G 7: 103,803,362 (GRCm39) V367A probably damaging Het
Omd C T 13: 49,743,112 (GRCm39) P54L possibly damaging Het
Or10ak12 C T 4: 118,666,575 (GRCm39) R162H probably benign Het
Or11g26 C A 14: 50,753,249 (GRCm39) A196D probably benign Het
Or2g7 C A 17: 38,378,641 (GRCm39) A193D probably benign Het
Or51f23 A T 7: 102,453,481 (GRCm39) R265S probably damaging Het
Or7d10 A G 9: 19,832,206 (GRCm39) K234E probably damaging Het
Pard3b T A 1: 61,807,289 (GRCm39) probably benign Het
Pcdhb18 A C 18: 37,624,988 (GRCm39) I773L possibly damaging Het
Pde11a T C 2: 75,970,175 (GRCm39) probably null Het
Pfkfb4 A C 9: 108,859,462 (GRCm39) probably benign Het
Phb2 T G 6: 124,692,612 (GRCm39) I260S probably damaging Het
Pkd1l1 G A 11: 8,908,969 (GRCm39) T345I unknown Het
Pla2g6 T C 15: 79,187,728 (GRCm39) probably benign Het
Pou4f2 G A 8: 79,163,020 (GRCm39) S5F unknown Het
Ppp1r9a A T 6: 5,157,002 (GRCm39) probably null Het
Pramel5 A G 4: 143,999,553 (GRCm39) I178T probably benign Het
Prom2 C T 2: 127,372,053 (GRCm39) W745* probably null Het
Pros1 T A 16: 62,748,424 (GRCm39) N632K probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rbm25 T A 12: 83,724,640 (GRCm39) H796Q possibly damaging Het
Rnf151 A T 17: 24,937,004 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,598,882 (GRCm39) L97I probably damaging Het
Scart1 C T 7: 139,810,359 (GRCm39) P984S probably benign Het
Semp2l2a T A 8: 13,887,263 (GRCm39) D276V probably benign Het
Sergef T A 7: 46,092,888 (GRCm39) T374S probably benign Het
Sh3rf3 G T 10: 58,966,808 (GRCm39) G717C probably damaging Het
Slc29a4 C T 5: 142,707,157 (GRCm39) T500I possibly damaging Het
Smc1b T A 15: 84,970,322 (GRCm39) D977V probably damaging Het
Spata31d1d C T 13: 59,874,829 (GRCm39) C902Y probably benign Het
St14 A T 9: 31,015,056 (GRCm39) V314D probably damaging Het
Stat3 A T 11: 100,784,496 (GRCm39) I602N possibly damaging Het
Stx4a T A 7: 127,445,661 (GRCm39) I189N probably damaging Het
Tacc1 A G 8: 25,672,215 (GRCm39) S338P probably benign Het
Tcirg1 T A 19: 3,952,424 (GRCm39) T315S possibly damaging Het
Tenm4 A T 7: 96,503,926 (GRCm39) N1295I probably damaging Het
Tm7sf3 T C 6: 146,505,409 (GRCm39) K516E possibly damaging Het
Tmem198b T C 10: 128,637,323 (GRCm39) E272G possibly damaging Het
Tnip3 A G 6: 65,582,937 (GRCm39) Q237R probably damaging Het
Trim15 C T 17: 37,173,252 (GRCm39) probably null Het
Trim30a T A 7: 104,070,657 (GRCm39) N252I possibly damaging Het
Ttc39a A G 4: 109,288,075 (GRCm39) E227G probably benign Het
Ttll13 A G 7: 79,902,914 (GRCm39) E194G probably damaging Het
Upf1 G A 8: 70,796,912 (GRCm39) T107I probably benign Het
Vac14 A G 8: 111,436,981 (GRCm39) I565V probably damaging Het
Other mutations in Zcchc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02035:Zcchc14 APN 8 122,331,354 (GRCm39) unclassified probably benign
IGL02060:Zcchc14 APN 8 122,330,634 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TATAGGTCAGGAAGCCAACTGC -3'
(R):5'- ACATGCTTAGCGCCCAGATG -3'

Sequencing Primer
(F):5'- AACTGCCAGTCTCACGAGAGG -3'
(R):5'- AGCATCCTTAGGAGTGACCC -3'
Posted On 2017-02-28