Incidental Mutation 'R8048:Zc3h6'
ID 618856
Institutional Source Beutler Lab
Gene Symbol Zc3h6
Ensembl Gene ENSMUSG00000042851
Gene Name zinc finger CCCH type containing 6
Synonyms
MMRRC Submission 067485-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R8048 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 128967402-129018563 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129017014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 988 (S988R)
Ref Sequence ENSEMBL: ENSMUSP00000105949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110320]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110320
AA Change: S988R

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: S988R

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
coiled coil region 30 71 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 177 192 N/A INTRINSIC
ZnF_C3H1 271 296 1.72e-4 SMART
ZnF_C3H1 300 325 2.51e-6 SMART
ZnF_C3H1 326 349 5.24e0 SMART
coiled coil region 351 383 N/A INTRINSIC
low complexity region 385 400 N/A INTRINSIC
low complexity region 493 509 N/A INTRINSIC
low complexity region 698 707 N/A INTRINSIC
low complexity region 784 798 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
low complexity region 876 890 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,410,844 (GRCm38) L318F probably damaging Het
Alms1 T A 6: 85,641,334 (GRCm38) S2318R probably benign Het
Arhgap12 G A 18: 6,052,883 (GRCm38) T443I probably benign Het
Arhgap29 C T 3: 121,992,901 (GRCm38) R372W probably damaging Het
Astn1 T C 1: 158,688,638 (GRCm38) I1266T probably benign Het
Bsg T C 10: 79,709,746 (GRCm38) V164A probably benign Het
C1qa G T 4: 136,896,610 (GRCm38) S94R probably benign Het
Cadps2 A G 6: 23,838,863 (GRCm38) V92A probably benign Het
Ccdc187 T A 2: 26,293,514 (GRCm38) D158V possibly damaging Het
Cngb1 T A 8: 95,263,210 (GRCm38) Y758F possibly damaging Het
Ddx4 G A 13: 112,622,172 (GRCm38) A285V probably null Het
Dsg1c A T 18: 20,274,767 (GRCm38) K390M probably damaging Het
Dst T C 1: 34,190,636 (GRCm38) F2437L probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,729,149 (GRCm38) probably benign Het
Fam227a CATTGTCTTGA CA 15: 79,649,758 (GRCm38) probably null Het
Fez2 T C 17: 78,387,053 (GRCm38) I303V probably benign Het
Ffar1 A T 7: 30,860,578 (GRCm38) I298N probably benign Het
Hpx C T 7: 105,595,478 (GRCm38) V228I probably benign Het
Igkv1-117 T G 6: 68,121,802 (GRCm38) C112G probably damaging Het
Il3ra A G 14: 14,348,903 (GRCm38) D99G probably benign Het
Ivl T A 3: 92,571,924 (GRCm38) K278M probably damaging Het
Lyst A G 13: 13,687,645 (GRCm38) T2589A probably benign Het
Madd A T 2: 91,154,448 (GRCm38) M1359K probably damaging Het
Nav3 T C 10: 109,764,918 (GRCm38) T1283A probably benign Het
Ncapd2 G T 6: 125,179,698 (GRCm38) C439* probably null Het
Nebl T C 2: 17,424,522 (GRCm38) D266G probably benign Het
Oas1f A T 5: 120,848,416 (GRCm38) Q144L possibly damaging Het
Oas1f G T 5: 120,847,537 (GRCm38) G49V probably damaging Het
Olfr1032 T G 2: 86,008,180 (GRCm38) S135A probably damaging Het
Olfr1052 C T 2: 86,298,328 (GRCm38) P171S probably benign Het
Olfr1062 T A 2: 86,423,307 (GRCm38) Y123F probably damaging Het
Olfr134 T C 17: 38,175,528 (GRCm38) V148A probably benign Het
Olfr141 T A 2: 86,806,171 (GRCm38) Y276F probably damaging Het
Olfr1440 A G 19: 12,394,355 (GRCm38) I31V not run Het
Olfr324 A G 11: 58,597,407 (GRCm38) I6V unknown Het
Olfr711 C T 7: 106,972,464 (GRCm38) probably benign Het
Olfr740 T C 14: 50,453,916 (GRCm38) L288P possibly damaging Het
Olfr917 C T 9: 38,665,812 (GRCm38) E11K probably benign Het
Pard3b T A 1: 62,153,989 (GRCm38) V217E probably damaging Het
Pcdha2 T A 18: 36,939,460 (GRCm38) I48N probably damaging Het
Pi4ka A G 16: 17,303,127 (GRCm38) F1248L Het
Plekha2 A T 8: 25,063,989 (GRCm38) probably benign Het
Plpp4 C T 7: 129,379,477 (GRCm38) R151C unknown Het
Pramef17 T A 4: 143,991,607 (GRCm38) Y422F probably benign Het
Prdm16 A G 4: 154,320,882 (GRCm38) L1245P probably damaging Het
Prob1 G A 18: 35,653,551 (GRCm38) A550V probably benign Het
Prok1 T C 3: 107,237,092 (GRCm38) H65R probably benign Het
Ptcd1 A G 5: 145,155,077 (GRCm38) V404A probably benign Het
Sbf2 T C 7: 110,315,082 (GRCm38) E1631G probably benign Het
Sdad1 C A 5: 92,300,089 (GRCm38) K262N probably benign Het
Sh3bp1 G T 15: 78,910,072 (GRCm38) A547S probably benign Het
Sptb T C 12: 76,628,559 (GRCm38) D227G probably benign Het
Tbx1 A G 16: 18,588,019 (GRCm38) M1T probably null Het
Tespa1 T A 10: 130,347,339 (GRCm38) V51D probably damaging Het
Tmc7 T C 7: 118,566,245 (GRCm38) N82S probably benign Het
Tmem8b A G 4: 43,689,476 (GRCm38) D290G possibly damaging Het
Trbv13-2 A T 6: 41,121,559 (GRCm38) T23S probably damaging Het
Trib3 A T 2: 152,338,633 (GRCm38) D213E probably damaging Het
Tubgcp4 T C 2: 121,183,500 (GRCm38) V178A probably benign Het
Virma T A 4: 11,539,918 (GRCm38) C1412* probably null Het
Vmn2r108 T C 17: 20,471,500 (GRCm38) T254A probably benign Het
Vps13d A G 4: 145,155,567 (GRCm38) V1152A Het
Wdr47 T C 3: 108,618,968 (GRCm38) V269A probably damaging Het
Zc3h13 T A 14: 75,324,537 (GRCm38) D676E unknown Het
Other mutations in Zc3h6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Zc3h6 APN 2 129,011,875 (GRCm38) missense probably damaging 1.00
IGL01880:Zc3h6 APN 2 129,017,378 (GRCm38) missense probably damaging 0.99
IGL02160:Zc3h6 APN 2 128,997,685 (GRCm38) missense probably benign 0.02
IGL02161:Zc3h6 APN 2 128,993,226 (GRCm38) missense possibly damaging 0.90
IGL02202:Zc3h6 APN 2 129,016,581 (GRCm38) missense probably damaging 1.00
IGL02547:Zc3h6 APN 2 129,015,611 (GRCm38) missense probably benign 0.00
IGL02973:Zc3h6 APN 2 128,997,795 (GRCm38) missense probably damaging 0.98
BB001:Zc3h6 UTSW 2 129,015,480 (GRCm38) missense possibly damaging 0.52
BB011:Zc3h6 UTSW 2 129,015,480 (GRCm38) missense possibly damaging 0.52
R0336:Zc3h6 UTSW 2 129,015,412 (GRCm38) missense possibly damaging 0.81
R0420:Zc3h6 UTSW 2 129,014,827 (GRCm38) missense probably benign 0.00
R0538:Zc3h6 UTSW 2 129,017,223 (GRCm38) missense possibly damaging 0.75
R0944:Zc3h6 UTSW 2 129,006,816 (GRCm38) missense probably damaging 1.00
R1151:Zc3h6 UTSW 2 129,017,136 (GRCm38) missense probably benign 0.00
R1528:Zc3h6 UTSW 2 129,017,069 (GRCm38) missense probably benign 0.01
R1698:Zc3h6 UTSW 2 129,017,358 (GRCm38) missense probably benign
R1712:Zc3h6 UTSW 2 129,016,734 (GRCm38) missense probably damaging 1.00
R1913:Zc3h6 UTSW 2 129,016,620 (GRCm38) missense probably damaging 1.00
R1926:Zc3h6 UTSW 2 128,997,795 (GRCm38) missense probably damaging 0.98
R2030:Zc3h6 UTSW 2 129,006,086 (GRCm38) missense probably damaging 1.00
R2051:Zc3h6 UTSW 2 129,015,618 (GRCm38) missense possibly damaging 0.55
R2133:Zc3h6 UTSW 2 128,967,830 (GRCm38) missense possibly damaging 0.53
R2273:Zc3h6 UTSW 2 129,014,709 (GRCm38) missense probably benign 0.01
R2328:Zc3h6 UTSW 2 128,993,202 (GRCm38) missense possibly damaging 0.85
R2862:Zc3h6 UTSW 2 129,015,460 (GRCm38) missense probably benign 0.43
R2899:Zc3h6 UTSW 2 129,002,232 (GRCm38) missense probably benign 0.00
R3711:Zc3h6 UTSW 2 129,017,331 (GRCm38) missense probably benign 0.00
R3743:Zc3h6 UTSW 2 128,997,792 (GRCm38) missense probably damaging 1.00
R3893:Zc3h6 UTSW 2 129,016,140 (GRCm38) missense probably damaging 1.00
R4748:Zc3h6 UTSW 2 129,002,240 (GRCm38) missense probably damaging 1.00
R5025:Zc3h6 UTSW 2 129,010,433 (GRCm38) missense possibly damaging 0.87
R5026:Zc3h6 UTSW 2 129,017,309 (GRCm38) missense probably benign 0.00
R5125:Zc3h6 UTSW 2 129,014,479 (GRCm38) missense possibly damaging 0.93
R5373:Zc3h6 UTSW 2 129,002,156 (GRCm38) missense possibly damaging 0.75
R5374:Zc3h6 UTSW 2 129,002,156 (GRCm38) missense possibly damaging 0.75
R5703:Zc3h6 UTSW 2 128,993,452 (GRCm38) intron probably benign
R5802:Zc3h6 UTSW 2 129,015,559 (GRCm38) missense possibly damaging 0.56
R5876:Zc3h6 UTSW 2 128,993,277 (GRCm38) missense probably benign 0.29
R5879:Zc3h6 UTSW 2 128,997,776 (GRCm38) splice site probably null
R5950:Zc3h6 UTSW 2 128,997,790 (GRCm38) nonsense probably null
R6031:Zc3h6 UTSW 2 128,967,812 (GRCm38) missense possibly damaging 0.85
R6031:Zc3h6 UTSW 2 128,967,812 (GRCm38) missense possibly damaging 0.85
R6781:Zc3h6 UTSW 2 129,015,421 (GRCm38) missense probably damaging 0.99
R7323:Zc3h6 UTSW 2 128,993,411 (GRCm38) missense unknown
R7340:Zc3h6 UTSW 2 128,993,190 (GRCm38) missense possibly damaging 0.90
R7572:Zc3h6 UTSW 2 129,017,252 (GRCm38) missense probably benign 0.02
R7576:Zc3h6 UTSW 2 129,014,553 (GRCm38) missense probably damaging 1.00
R7797:Zc3h6 UTSW 2 129,015,635 (GRCm38) critical splice donor site probably null
R7924:Zc3h6 UTSW 2 129,015,480 (GRCm38) missense possibly damaging 0.52
R8877:Zc3h6 UTSW 2 129,014,399 (GRCm38) nonsense probably null
R9076:Zc3h6 UTSW 2 129,017,176 (GRCm38) nonsense probably null
R9577:Zc3h6 UTSW 2 129,016,182 (GRCm38) missense
R9687:Zc3h6 UTSW 2 129,017,361 (GRCm38) missense probably damaging 1.00
R9745:Zc3h6 UTSW 2 129,017,235 (GRCm38) missense probably benign 0.08
Z1176:Zc3h6 UTSW 2 129,016,221 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGCCTTGATCCAACATCAGC -3'
(R):5'- GCTCCATTGCAGATAACGAAC -3'

Sequencing Primer
(F):5'- TTGATCCAACATCAGCAGCCAAAG -3'
(R):5'- TGCAGATAACGAACCTTTATCCCTAG -3'
Posted On 2020-01-23