Incidental Mutation 'R0882:Zc2hc1a'
ID 80617
Institutional Source Beutler Lab
Gene Symbol Zc2hc1a
Ensembl Gene ENSMUSG00000043542
Gene Name zinc finger, C2HC-type containing 1A
Synonyms 3110050N22Rik, Fam164a
MMRRC Submission 039049-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R0882 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 7568543-7618896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 7591422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 149 (S149N)
Ref Sequence ENSEMBL: ENSMUSP00000141497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051064] [ENSMUST00000193010]
AlphaFold Q8BJH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000051064
AA Change: S149N

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054734
Gene: ENSMUSG00000043542
AA Change: S149N

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 possibly damaging
Transcript: ENSMUST00000193010
AA Change: S149N

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141497
Gene: ENSMUSG00000043542
AA Change: S149N

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
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Adh1 A T 3: 137,992,558 (GRCm39) I225F possibly damaging Het
Agap2 A G 10: 126,923,319 (GRCm39) K691E unknown Het
Alcam T C 16: 52,073,573 (GRCm39) D564G possibly damaging Het
Apbb2 T A 5: 66,557,598 (GRCm39) T289S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cep68 T C 11: 20,189,393 (GRCm39) I540V probably benign Het
Ctla4 T C 1: 60,948,397 (GRCm39) V23A probably benign Het
Dnah7b T A 1: 46,379,292 (GRCm39) D3675E probably benign Het
Fam209 G T 2: 172,314,555 (GRCm39) V15F probably benign Het
Fat3 A G 9: 15,942,664 (GRCm39) V1236A possibly damaging Het
Gabbr2 A G 4: 46,718,904 (GRCm39) I38T probably damaging Het
Gdpd4 T C 7: 97,615,505 (GRCm39) I110T probably damaging Het
Gm4841 C T 18: 60,402,852 (GRCm39) A414T possibly damaging Het
Gtf3c4 A T 2: 28,724,782 (GRCm39) Y176N probably damaging Het
H2bc18 G A 3: 96,177,060 (GRCm39) probably null Het
Igsf9b T C 9: 27,230,612 (GRCm39) Y264H probably damaging Het
Itih4 A T 14: 30,614,231 (GRCm39) N394Y probably damaging Het
Kmt2c T C 5: 25,500,605 (GRCm39) T3815A possibly damaging Het
Lrwd1 T C 5: 136,152,254 (GRCm39) probably null Het
Mc3r A G 2: 172,091,711 (GRCm39) K311R probably benign Het
Myb T C 10: 21,032,259 (GRCm39) T41A possibly damaging Het
Nfix T C 8: 85,454,554 (GRCm39) D201G probably damaging Het
Nos1 T C 5: 118,085,512 (GRCm39) V1280A probably damaging Het
Or51a5 A C 7: 102,771,782 (GRCm39) S66A probably benign Het
Or8a1b T C 9: 37,623,168 (GRCm39) M136V probably benign Het
Pcdh15 A G 10: 74,178,488 (GRCm39) T582A probably damaging Het
Pcdhb12 C A 18: 37,570,375 (GRCm39) A507E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pkp2 C A 16: 16,087,575 (GRCm39) A753E probably damaging Het
Plekha3 G A 2: 76,513,142 (GRCm39) V76I possibly damaging Het
Pnpla6 T C 8: 3,567,081 (GRCm39) L33P probably damaging Het
Pot1b C T 17: 55,973,400 (GRCm39) probably benign Het
Prr5l T C 2: 101,588,886 (GRCm39) E88G possibly damaging Het
Prss57 G A 10: 79,621,699 (GRCm39) H97Y probably damaging Het
Rttn C T 18: 88,991,813 (GRCm39) Q131* probably null Het
Scaf11 G T 15: 96,316,176 (GRCm39) S1129R possibly damaging Het
Slc25a20 T A 9: 108,559,189 (GRCm39) M185K possibly damaging Het
Sorbs3 T A 14: 70,445,021 (GRCm39) E19V probably damaging Het
Srgap2 A T 1: 131,217,253 (GRCm39) C1020S probably benign Het
Thoc2l T C 5: 104,666,875 (GRCm39) S466P probably benign Het
Tmem109 T C 19: 10,849,205 (GRCm39) R217G possibly damaging Het
Trio A T 15: 27,732,980 (GRCm39) I2967N probably damaging Het
Vars2 T C 17: 35,968,191 (GRCm39) E899G probably benign Het
Vmn2r109 A G 17: 20,774,842 (GRCm39) probably benign Het
Vps53 A G 11: 75,973,485 (GRCm39) F170L probably damaging Het
Zfp820 A G 17: 22,042,817 (GRCm39) probably benign Het
Zhx3 A C 2: 160,622,629 (GRCm39) F513V 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
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
R5322:Zc2hc1a UTSW 3 7,616,481 (GRCm39) missense probably benign 0.00
R8733:Zc2hc1a UTSW 3 7,593,168 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGACCGTAAAGAGTCTTCCAGCCC -3'
(R):5'- ATGCATCTCACTCGGCACACAG -3'

Sequencing Primer
(F):5'- TAAAGAGTCTTCCAGCCCGTTAG -3'
(R):5'- CACTTGAATTTTGTACCAAAGCCC -3'
Posted On 2013-11-07