Incidental Mutation 'R5322:Zc2hc1a'
ID 404885
Institutional Source Beutler Lab
Gene Symbol Zc2hc1a
Ensembl Gene ENSMUSG00000043542
Gene Name zinc finger, C2HC-type containing 1A
Synonyms 3110050N22Rik, Fam164a
MMRRC Submission 042905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R5322 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 7568543-7618896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7616481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 247 (N247S)
Ref Sequence ENSEMBL: ENSMUSP00000141497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051064] [ENSMUST00000193010]
AlphaFold Q8BJH1
Predicted Effect probably benign
Transcript: ENSMUST00000051064
AA Change: N283S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054734
Gene: ENSMUSG00000043542
AA Change: N283S

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 15 39 2.6e-11 PFAM
low complexity region 62 77 N/A INTRINSIC
Pfam:zf-C2HC_2 118 142 8.7e-8 PFAM
low complexity region 176 187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192835
Predicted Effect probably benign
Transcript: ENSMUST00000193010
AA Change: N247S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000141497
Gene: ENSMUSG00000043542
AA Change: N247S

DomainStartEndE-ValueType
Pfam:zf-C2HC_2 15 39 2.3e-11 PFAM
low complexity region 62 77 N/A INTRINSIC
Pfam:zf-C2HC_2 118 142 1.2e-7 PFAM
low complexity region 176 187 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C T 5: 89,855,159 (GRCm39) probably null Het
Ankar T C 1: 72,729,545 (GRCm39) probably null Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Appbp2 A G 11: 85,086,890 (GRCm39) probably null Het
Arvcf T C 16: 18,215,508 (GRCm39) M176T probably benign Het
Cachd1 T C 4: 100,809,319 (GRCm39) I268T probably damaging Het
Ccdc66 A G 14: 27,204,484 (GRCm39) S933P probably damaging Het
Cfi C T 3: 129,666,689 (GRCm39) P471S probably damaging Het
Ckmt2 G T 13: 92,009,891 (GRCm39) T143K possibly damaging Het
Cnksr3 A T 10: 7,085,078 (GRCm39) D15E probably damaging Het
Copb2 A T 9: 98,468,029 (GRCm39) K680N probably benign Het
D2hgdh T C 1: 93,757,620 (GRCm39) probably null Het
Dcn A T 10: 97,353,464 (GRCm39) T338S probably benign Het
Dipk2a A G 9: 94,402,615 (GRCm39) I349T probably benign Het
Dnah10 G A 5: 124,850,630 (GRCm39) G1644D probably damaging Het
Dnah5 A G 15: 28,384,390 (GRCm39) I3045V probably benign Het
Dock3 G A 9: 106,779,028 (GRCm39) T307I probably benign Het
Dock5 A T 14: 68,007,715 (GRCm39) I1498N probably benign Het
Emc1 A T 4: 139,081,557 (GRCm39) N62Y probably damaging Het
Enpp6 C A 8: 47,521,950 (GRCm39) H295N probably benign Het
Epha10 A G 4: 124,779,541 (GRCm39) Y129C probably damaging Het
Fbn2 A T 18: 58,172,387 (GRCm39) D2139E probably benign Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fignl1 A T 11: 11,751,571 (GRCm39) F495I probably damaging Het
Gm43302 C T 5: 105,365,347 (GRCm39) A554T probably benign Het
Gpr157 A G 4: 150,183,309 (GRCm39) N160D probably benign Het
Il1rn G A 2: 24,238,641 (GRCm39) probably null Het
Kctd13 T A 7: 126,528,378 (GRCm39) L51Q probably damaging Het
Kndc1 T C 7: 139,516,722 (GRCm39) F1561L probably damaging Het
Mast2 A G 4: 116,190,608 (GRCm39) probably null Het
Mib1 A G 18: 10,792,975 (GRCm39) H637R probably damaging Het
Moxd1 A T 10: 24,120,151 (GRCm39) N93I possibly damaging Het
Mycbp2 T C 14: 103,423,119 (GRCm39) probably null Het
Myot T C 18: 44,487,216 (GRCm39) F351S probably benign Het
N4bp2 T A 5: 65,947,800 (GRCm39) N143K possibly damaging Het
Or10ac1 T C 6: 42,515,950 (GRCm39) D2G probably benign Het
Or2ah1 T A 2: 85,653,531 (GRCm39) I72N probably damaging Het
Or51b6b T C 7: 103,309,879 (GRCm39) I193V possibly damaging Het
Or52a20 T A 7: 103,366,319 (GRCm39) W173R probably benign Het
Or52n2 C T 7: 104,542,371 (GRCm39) V155I probably benign Het
Or8b3 A T 9: 38,314,862 (GRCm39) I228F probably damaging Het
Or8b52 T A 9: 38,576,502 (GRCm39) I213L probably benign Het
Patl1 C T 19: 11,898,223 (GRCm39) R134* probably null Het
Paxbp1 T C 16: 90,812,050 (GRCm39) I887V probably benign Het
Pi4kb G A 3: 94,901,560 (GRCm39) R436Q probably benign Het
Pla2g3 A G 11: 3,438,686 (GRCm39) E112G probably benign Het
Ppp2r2a A G 14: 67,276,322 (GRCm39) probably null Het
Rela T A 19: 5,695,408 (GRCm39) S311R possibly damaging Het
Sidt1 T A 16: 44,101,985 (GRCm39) probably benign Het
Smco2 T C 6: 146,772,785 (GRCm39) L329P probably damaging Het
Speer4f1 A T 5: 17,682,347 (GRCm39) I77F possibly damaging Het
Tex14 A G 11: 87,402,298 (GRCm39) I462V probably benign Het
Tmem260 C T 14: 48,724,306 (GRCm39) R385W probably damaging Het
Trrap T C 5: 144,781,034 (GRCm39) V2974A probably damaging Het
Usp47 C T 7: 111,652,476 (GRCm39) T31I probably damaging Het
Zeb2 A C 2: 44,887,107 (GRCm39) M582R probably damaging Het
Other mutations in Zc2hc1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02395:Zc2hc1a APN 3 7,593,684 (GRCm39) nonsense probably null
IGL03071:Zc2hc1a APN 3 7,589,182 (GRCm39) splice site probably benign
IGL03342:Zc2hc1a APN 3 7,589,283 (GRCm39) missense possibly damaging 0.89
R0882:Zc2hc1a UTSW 3 7,591,422 (GRCm39) missense possibly damaging 0.68
R1638:Zc2hc1a UTSW 3 7,581,543 (GRCm39) missense probably benign 0.35
R2513:Zc2hc1a UTSW 3 7,581,596 (GRCm39) splice site probably null
R4168:Zc2hc1a UTSW 3 7,583,451 (GRCm39) missense probably benign 0.01
R8733:Zc2hc1a UTSW 3 7,593,168 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTGCCTACCCATGCTGTAG -3'
(R):5'- TCATTAAATCCTGATCCTGGACCC -3'

Sequencing Primer
(F):5'- GTGTGACCCACAGATTATTAGCTTG -3'
(R):5'- TGATCCTGGACCCTTAGCG -3'
Posted On 2016-07-22