Incidental Mutation 'R1731:Zscan22'
ID 199311
Institutional Source Beutler Lab
Gene Symbol Zscan22
Ensembl Gene ENSMUSG00000054715
Gene Name zinc finger and SCAN domain containing 22
Synonyms Hkr2, D530006B18Rik
MMRRC Submission 039763-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R1731 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 12631742-12643010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12640907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 384 (C384R)
Ref Sequence ENSEMBL: ENSMUSP00000113314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055528] [ENSMUST00000117189] [ENSMUST00000119989] [ENSMUST00000120809]
AlphaFold Q8BGS5
Predicted Effect probably damaging
Transcript: ENSMUST00000055528
AA Change: C384R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057651
Gene: ENSMUSG00000054715
AA Change: C384R

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
SCAN 45 154 8.03e-50 SMART
ZnF_C2H2 273 292 6.64e1 SMART
ZnF_C2H2 298 320 6.88e-4 SMART
ZnF_C2H2 326 348 1.04e-3 SMART
ZnF_C2H2 354 376 8.02e-5 SMART
ZnF_C2H2 382 404 6.42e-4 SMART
ZnF_C2H2 410 432 1.06e-4 SMART
ZnF_C2H2 438 460 3.21e-4 SMART
ZnF_C2H2 466 488 1.72e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117189
AA Change: C225R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112684
Gene: ENSMUSG00000054715
AA Change: C225R

DomainStartEndE-ValueType
ZnF_C2H2 114 133 6.64e1 SMART
ZnF_C2H2 139 161 6.88e-4 SMART
ZnF_C2H2 167 189 1.04e-3 SMART
ZnF_C2H2 195 217 8.02e-5 SMART
ZnF_C2H2 223 245 6.42e-4 SMART
ZnF_C2H2 251 273 1.06e-4 SMART
ZnF_C2H2 279 301 3.21e-4 SMART
ZnF_C2H2 307 329 1.72e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119989
AA Change: C225R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113486
Gene: ENSMUSG00000054715
AA Change: C225R

DomainStartEndE-ValueType
ZnF_C2H2 114 133 6.64e1 SMART
ZnF_C2H2 139 161 6.88e-4 SMART
ZnF_C2H2 167 189 1.04e-3 SMART
ZnF_C2H2 195 217 8.02e-5 SMART
ZnF_C2H2 223 245 6.42e-4 SMART
ZnF_C2H2 251 273 1.06e-4 SMART
ZnF_C2H2 279 301 3.21e-4 SMART
ZnF_C2H2 307 329 1.72e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120809
AA Change: C384R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113314
Gene: ENSMUSG00000054715
AA Change: C384R

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
SCAN 45 154 8.03e-50 SMART
ZnF_C2H2 273 292 6.64e1 SMART
ZnF_C2H2 298 320 6.88e-4 SMART
ZnF_C2H2 326 348 1.04e-3 SMART
ZnF_C2H2 354 376 8.02e-5 SMART
ZnF_C2H2 382 404 6.42e-4 SMART
ZnF_C2H2 410 432 1.06e-4 SMART
ZnF_C2H2 438 460 3.21e-4 SMART
ZnF_C2H2 466 488 1.72e-4 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,762,805 (GRCm39) Y140F probably damaging Het
Adgrl4 T G 3: 151,246,623 (GRCm39) I641S possibly damaging Het
Aqp9 A G 9: 71,030,250 (GRCm39) I205T possibly damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf2 C T 2: 73,675,853 (GRCm39) G123E probably damaging Het
Baz1a T C 12: 54,965,330 (GRCm39) D708G possibly damaging Het
Calcrl A G 2: 84,175,512 (GRCm39) probably null Het
Capzb T A 4: 139,007,341 (GRCm39) W110R probably damaging Het
Casp8ap2 A T 4: 32,641,442 (GRCm39) N832I possibly damaging Het
Cecr2 T A 6: 120,735,141 (GRCm39) H764Q possibly damaging Het
Cep131 T C 11: 119,967,742 (GRCm39) probably null Het
Ces2e T C 8: 105,656,208 (GRCm39) V173A probably damaging Het
Clstn3 T C 6: 124,408,591 (GRCm39) D944G probably benign Het
Cyb5rl C A 4: 106,938,110 (GRCm39) A189E probably damaging Het
Cyp2c40 A G 19: 39,801,133 (GRCm39) S41P probably damaging Het
Dscam A G 16: 96,621,076 (GRCm39) L544P probably damaging Het
Epha2 A G 4: 141,049,063 (GRCm39) K640E possibly damaging Het
Erap1 T A 13: 74,814,241 (GRCm39) C8* probably null Het
Fat3 A G 9: 15,907,233 (GRCm39) V2923A probably benign Het
Fat4 A T 3: 38,945,459 (GRCm39) I1451F probably damaging Het
Fcsk A T 8: 111,621,455 (GRCm39) I163N probably damaging Het
Fzd6 G A 15: 38,894,722 (GRCm39) G296D probably damaging Het
Gm3486 T A 14: 41,206,492 (GRCm39) M194L probably benign Het
Gm5592 C T 7: 40,937,837 (GRCm39) A373V probably damaging Het
Hectd3 T A 4: 116,853,652 (GRCm39) probably null Het
Hira T A 16: 18,751,764 (GRCm39) V521E probably benign Het
Hsd17b6 A G 10: 127,830,348 (GRCm39) L141S possibly damaging Het
Idua A G 5: 108,829,538 (GRCm39) D467G probably benign Het
Ikzf4 G A 10: 128,470,401 (GRCm39) P373L probably benign Het
Kcng1 T C 2: 168,110,609 (GRCm39) E185G probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lpcat4 T C 2: 112,074,188 (GRCm39) L250P probably damaging Het
Lrrc49 A G 9: 60,528,914 (GRCm39) Y281H probably damaging Het
Mta2 C A 19: 8,925,088 (GRCm39) probably null Het
Myo15b T C 11: 115,782,386 (GRCm39) I372T possibly damaging Het
Myocd T A 11: 65,091,714 (GRCm39) N76I probably benign Het
Nav2 T A 7: 49,197,922 (GRCm39) Y1123N probably damaging Het
Otogl A T 10: 107,652,972 (GRCm39) C1127S probably damaging Het
Pcdhb8 A G 18: 37,488,891 (GRCm39) K190E probably damaging Het
Pcnx1 A G 12: 82,037,478 (GRCm39) H1918R probably damaging Het
Pde2a T A 7: 101,150,867 (GRCm39) Y272N probably damaging Het
Phldb3 T C 7: 24,318,660 (GRCm39) V313A probably benign Het
Plch2 C T 4: 155,091,451 (GRCm39) V116I possibly damaging Het
Plod2 G A 9: 92,466,657 (GRCm39) probably null Het
Ppfibp2 T C 7: 107,339,796 (GRCm39) Y730H probably damaging Het
Ptprh T C 7: 4,604,912 (GRCm39) E44G probably benign Het
Rab11fip1 T C 8: 27,642,438 (GRCm39) E787G probably damaging Het
Rabep2 T A 7: 126,043,444 (GRCm39) L448Q probably damaging Het
Rbfox3 A G 11: 118,387,762 (GRCm39) probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf125 A G 18: 21,110,873 (GRCm39) T44A probably benign Het
Rusc2 G T 4: 43,426,046 (GRCm39) A1384S probably benign Het
Selp T A 1: 163,969,009 (GRCm39) C536* probably null Het
Serpinb3c G A 1: 107,199,504 (GRCm39) T339I probably damaging Het
Slc4a5 C T 6: 83,273,617 (GRCm39) R986C probably damaging Het
Slc8b1 T C 5: 120,659,180 (GRCm39) I208T probably benign Het
Sp3 G A 2: 72,776,999 (GRCm39) H533Y probably damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tiam2 A G 17: 3,568,698 (GRCm39) R1615G probably damaging Het
Tie1 T C 4: 118,333,460 (GRCm39) E802G probably damaging Het
Tinagl1 A G 4: 130,061,842 (GRCm39) V164A probably benign Het
Vmn1r68 A G 7: 10,261,802 (GRCm39) Y99H probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r56 T C 7: 12,466,972 (GRCm39) T21A probably benign Het
Zfp108 C A 7: 23,957,964 (GRCm39) H34Q possibly damaging Het
Zfp267 T A 3: 36,218,620 (GRCm39) F214L probably benign Het
Zfp456 C T 13: 67,514,674 (GRCm39) S344N probably benign Het
Other mutations in Zscan22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Zscan22 APN 7 12,640,398 (GRCm39) missense probably benign 0.01
IGL02408:Zscan22 APN 7 12,640,426 (GRCm39) missense probably benign 0.09
PIT4378001:Zscan22 UTSW 7 12,637,983 (GRCm39) missense possibly damaging 0.89
R0079:Zscan22 UTSW 7 12,638,014 (GRCm39) critical splice donor site probably null
R1677:Zscan22 UTSW 7 12,640,730 (GRCm39) missense probably damaging 1.00
R1944:Zscan22 UTSW 7 12,637,767 (GRCm39) missense probably damaging 0.98
R2258:Zscan22 UTSW 7 12,637,887 (GRCm39) missense probably damaging 1.00
R2276:Zscan22 UTSW 7 12,640,750 (GRCm39) nonsense probably null
R3115:Zscan22 UTSW 7 12,641,217 (GRCm39) missense probably benign 0.39
R4064:Zscan22 UTSW 7 12,640,941 (GRCm39) missense probably damaging 1.00
R4274:Zscan22 UTSW 7 12,640,251 (GRCm39) missense probably benign 0.01
R4691:Zscan22 UTSW 7 12,640,488 (GRCm39) missense probably benign 0.06
R5355:Zscan22 UTSW 7 12,640,435 (GRCm39) missense probably benign 0.00
R5607:Zscan22 UTSW 7 12,640,919 (GRCm39) missense probably damaging 1.00
R5608:Zscan22 UTSW 7 12,640,919 (GRCm39) missense probably damaging 1.00
R5789:Zscan22 UTSW 7 12,637,853 (GRCm39) missense probably benign
R6293:Zscan22 UTSW 7 12,640,834 (GRCm39) nonsense probably null
R7210:Zscan22 UTSW 7 12,640,748 (GRCm39) missense probably damaging 0.98
R7475:Zscan22 UTSW 7 12,640,664 (GRCm39) missense probably damaging 0.99
R7491:Zscan22 UTSW 7 12,640,833 (GRCm39) missense probably damaging 1.00
R8321:Zscan22 UTSW 7 12,637,625 (GRCm39) missense probably benign 0.28
R9198:Zscan22 UTSW 7 12,641,130 (GRCm39) missense probably damaging 1.00
R9238:Zscan22 UTSW 7 12,641,075 (GRCm39) missense probably damaging 1.00
R9566:Zscan22 UTSW 7 12,640,866 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGTTGTTCACACAGGAGCAAAG -3'
(R):5'- AGGGAGGCTGTGCTGTACTCTAAG -3'

Sequencing Primer
(F):5'- ggagcaaagccccatgc -3'
(R):5'- gctttcccacagtcactgc -3'
Posted On 2014-05-23