Incidental Mutation 'R4168:Zc2hc1a'
ID 320646
Institutional Source Beutler Lab
Gene Symbol Zc2hc1a
Ensembl Gene ENSMUSG00000043542
Gene Name zinc finger, C2HC-type containing 1A
Synonyms 3110050N22Rik, Fam164a
MMRRC Submission 041009-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R4168 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 7568543-7618896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7583451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 41 (T41A)
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: T41A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000054734
Gene: ENSMUSG00000043542
AA Change: T41A

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 probably benign
Transcript: ENSMUST00000193010
AA Change: T41A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000141497
Gene: ENSMUSG00000043542
AA Change: T41A

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 0.0759 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 A T 17: 57,525,608 (GRCm39) F883I probably benign Het
Cbr4 T A 8: 61,944,555 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Chpf2 T C 5: 24,796,788 (GRCm39) V578A possibly damaging Het
Clasrp A G 7: 19,315,079 (GRCm39) probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Ctif A C 18: 75,770,286 (GRCm39) L33R probably damaging Het
Dmap1 T A 4: 117,538,507 (GRCm39) H54L possibly damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fcgbpl1 T C 7: 27,836,534 (GRCm39) L151P probably benign Het
Flt4 G A 11: 49,521,400 (GRCm39) R440H probably benign Het
Gabrb2 A T 11: 42,312,155 (GRCm39) probably benign Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Haspin A G 11: 73,026,848 (GRCm39) L747P probably damaging Het
Intu C T 3: 40,627,053 (GRCm39) P278L probably benign Het
Kif27 A G 13: 58,493,562 (GRCm39) I127T probably benign Het
Mogat1 T C 1: 78,488,672 (GRCm39) V25A possibly damaging Het
Nop14 A G 5: 34,814,088 (GRCm39) S157P probably damaging Het
Or5al6 A G 2: 85,976,523 (GRCm39) I185T probably benign Het
Or5d39 T C 2: 87,980,189 (GRCm39) H58R probably damaging Het
Or5k3 A T 16: 58,969,363 (GRCm39) Y50F probably benign Het
Oxct2b T C 4: 123,011,478 (GRCm39) L466P probably damaging Het
Padi6 A G 4: 140,469,245 (GRCm39) C32R probably damaging Het
Pla2r1 A T 2: 60,327,958 (GRCm39) Y501* probably null Het
Rb1cc1 G A 1: 6,300,248 (GRCm39) V8I probably damaging Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,684,673 (GRCm39) I261V probably benign Het
Tmem119 T C 5: 113,933,048 (GRCm39) E251G probably benign Het
Vmn2r112 T A 17: 22,822,069 (GRCm39) M249K probably benign Het
Zfp128 A G 7: 12,624,289 (GRCm39) D219G probably benign Het
Znrf2 T C 6: 54,840,945 (GRCm39) V173A possibly 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
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'- ATAATTTCCTGAAAGGTAGGTGTGG -3'
(R):5'- CACGGAATTTTGTTTACCTAGACTC -3'

Sequencing Primer
(F):5'- GGCAGTGTACATGTTTTGAAGC -3'
(R):5'- GACCGTGGGAATATCAGT -3'
Posted On 2015-06-12