Incidental Mutation 'R2419:Zcchc14'
ID 249147
Institutional Source Beutler Lab
Gene Symbol Zcchc14
Ensembl Gene ENSMUSG00000061410
Gene Name zinc finger, CCHC domain containing 14
Synonyms Bdg29
MMRRC Submission 040381-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2419 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 122325442-122379640 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122330675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 896 (Q896L)
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: Q896L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: Q896L

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: Q193L
SMART Domains Protein: ENSMUSP00000120570
Gene: ENSMUSG00000061410
AA Change: Q193L

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
Meta Mutation Damage Score 0.0806 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acyp2 T C 11: 30,582,316 (GRCm39) Y33C probably benign Het
Ampd3 A G 7: 110,367,576 (GRCm39) probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Arl4d A T 11: 101,557,714 (GRCm39) Q80L probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Ccdc38 T A 10: 93,384,837 (GRCm39) V35D probably benign Het
Cd6 G A 19: 10,770,216 (GRCm39) P492S probably damaging Het
Cdh20 G A 1: 104,902,740 (GRCm39) S477N possibly damaging Het
Cnmd G A 14: 79,875,488 (GRCm39) P311S probably damaging Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Dusp18 T C 11: 3,847,018 (GRCm39) S3P possibly damaging Het
Eml2 A G 7: 18,910,620 (GRCm39) probably benign Het
Foxb2 G C 19: 16,850,325 (GRCm39) A227G probably damaging Het
Hey1 A G 3: 8,731,003 (GRCm39) probably null Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kcna2 G A 3: 107,011,469 (GRCm39) G17R probably benign Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Leng9 A G 7: 4,151,626 (GRCm39) V350A probably benign Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Lrat A G 3: 82,810,992 (GRCm39) S10P probably damaging Het
Lrrk2 C A 15: 91,681,729 (GRCm39) probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Met T C 6: 17,535,829 (GRCm39) probably benign Het
Mical3 A G 6: 120,936,884 (GRCm39) V342A probably benign Het
Nup210 G A 6: 90,994,538 (GRCm39) probably benign Het
Or1i2 T A 10: 78,448,221 (GRCm39) I85F probably benign Het
Or1j12 T A 2: 36,343,338 (GRCm39) V247E probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Phc3 T C 3: 31,005,027 (GRCm39) M189V probably damaging Het
Plcb1 A G 2: 135,104,020 (GRCm39) probably benign Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Rbbp5 T C 1: 132,421,564 (GRCm39) I88T possibly damaging Het
Rfpl4b T C 10: 38,697,368 (GRCm39) R78G probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Sdad1 T C 5: 92,453,677 (GRCm39) H37R possibly damaging Het
Setd2 T A 9: 110,378,065 (GRCm39) F627I possibly damaging Het
Ski A G 4: 155,245,350 (GRCm39) S293P probably benign Het
Slc27a1 A G 8: 72,032,560 (GRCm39) E191G possibly damaging Het
Snx18 T C 13: 113,753,755 (GRCm39) M393V possibly damaging Het
Spata31g1 A G 4: 42,974,146 (GRCm39) T1160A possibly damaging Het
Tacc1 A G 8: 25,672,829 (GRCm39) V42A possibly damaging Het
Tbc1d8 A G 1: 39,415,983 (GRCm39) F897L probably damaging Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem62 G A 2: 120,837,586 (GRCm39) G501E probably damaging Het
Tmem94 A G 11: 115,687,641 (GRCm39) K1167E probably damaging Het
Trap1 A G 16: 3,886,194 (GRCm39) S88P probably benign Het
Ugt2b38 T C 5: 87,571,591 (GRCm39) D147G probably damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R probably damaging Het
Zfp619 A G 7: 39,185,307 (GRCm39) K446E possibly damaging Het
Zpr1 T C 9: 46,187,490 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTCTCTCAGGAGCCACAAGC -3'
(R):5'- AGCTATGCCAACTACTTCCAG -3'

Sequencing Primer
(F):5'- GGAGCCACAAGCCACAGAG -3'
(R):5'- CAGTCCCATGTGTGGCAATG -3'
Posted On 2014-11-12