Incidental Mutation 'R4274:Zscan22'
ID324702
Institutional Source Beutler Lab
Gene Symbol Zscan22
Ensembl Gene ENSMUSG00000054715
Gene Namezinc finger and SCAN domain containing 22
SynonymsD530006B18Rik, Hkr2
MMRRC Submission 041077-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R4274 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location12897815-12909083 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12906324 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 6 (V6A)
Ref Sequence ENSEMBL: ENSMUSP00000113486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055528] [ENSMUST00000117189] [ENSMUST00000119989] [ENSMUST00000120809]
Predicted Effect probably benign
Transcript: ENSMUST00000055528
AA Change: V165A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000057651
Gene: ENSMUSG00000054715
AA Change: V165A

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 benign
Transcript: ENSMUST00000117189
AA Change: V6A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112684
Gene: ENSMUSG00000054715
AA Change: V6A

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 benign
Transcript: ENSMUST00000119989
AA Change: V6A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113486
Gene: ENSMUSG00000054715
AA Change: V6A

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 benign
Transcript: ENSMUST00000120809
AA Change: V165A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113314
Gene: ENSMUSG00000054715
AA Change: V165A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,090,104 Y36C probably damaging Het
Abcc4 T C 14: 118,629,622 R228G probably damaging Het
Acap2 A T 16: 31,108,114 S528T probably benign Het
Adamts6 T A 13: 104,314,279 D323E possibly damaging Het
Ano8 G T 8: 71,478,741 probably benign Het
Ano9 T G 7: 141,110,695 Q48P probably benign Het
Atp13a1 T G 8: 69,805,292 L899R probably benign Het
Card10 G A 15: 78,780,514 R747W probably damaging Het
Csn1s1 T C 5: 87,680,961 *295R probably null Het
Dhx9 A G 1: 153,468,926 I505T probably damaging Het
Dnajc17 A T 2: 119,186,385 S37T probably benign Het
Dot1l T A 10: 80,783,988 probably null Het
Dph7 A G 2: 24,963,500 N109S possibly damaging Het
Ednra C T 8: 77,720,302 G49D probably benign Het
Fam83g T C 11: 61,701,728 M259T probably damaging Het
Fer1l4 A T 2: 156,020,544 D1736E probably damaging Het
Fetub T C 16: 22,935,679 I212T probably damaging Het
Foxc2 C A 8: 121,117,700 S362R probably benign Het
Gm8444 A G 15: 81,843,533 probably benign Het
Gpank1 G A 17: 35,124,269 E242K probably benign Het
Hps4 G A 5: 112,375,030 probably benign Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Ighv1-20 A T 12: 114,724,199 W3R probably damaging Het
Kcnq1 T C 7: 143,184,442 I209T probably damaging Het
Me3 A T 7: 89,806,726 E262V probably damaging Het
Mei1 G A 15: 82,124,863 R1233Q possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Mrgprx3-ps T C 7: 47,309,826 noncoding transcript Het
Olfr1281 A T 2: 111,328,815 Y132F probably damaging Het
Olfr160 A T 9: 37,712,068 D70E probably damaging Het
Olfr478 C A 7: 108,031,544 K266N probably benign Het
Ostm1 T C 10: 42,698,234 F153L probably damaging Het
Pkd1l3 C T 8: 109,624,119 T532I possibly damaging Het
Prpf40a G A 2: 53,146,172 H624Y probably damaging Het
Rtn2 T C 7: 19,287,324 S210P probably benign Het
Siglec1 T C 2: 131,085,814 Q24R probably benign Het
Smurf1 T C 5: 144,896,775 probably benign Het
Ssr1 G A 13: 37,985,290 L225F possibly damaging Het
Tlr6 A G 5: 64,953,638 I642T probably benign Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 98,867,129 probably null Het
Tnrc18 T C 5: 142,743,650 K1674R unknown Het
Tns1 T A 1: 73,928,098 Y1115F probably damaging Het
Trim56 T A 5: 137,113,687 E325V probably damaging Het
Ttn T C 2: 76,775,974 T18164A possibly damaging Het
Ugt2a3 A T 5: 87,327,689 D361E probably damaging Het
Vmn2r125 T C 4: 156,350,087 I56T probably benign Het
Xkr5 T A 8: 18,934,167 H453L probably benign Het
Zcchc7 C T 4: 44,931,335 H496Y possibly damaging Het
Zfp82 C T 7: 30,056,367 R430H probably damaging Het
Other mutations in Zscan22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01966:Zscan22 APN 7 12906471 missense probably benign 0.01
IGL02408:Zscan22 APN 7 12906499 missense probably benign 0.09
PIT4378001:Zscan22 UTSW 7 12904056 missense possibly damaging 0.89
R0079:Zscan22 UTSW 7 12904087 critical splice donor site probably null
R1677:Zscan22 UTSW 7 12906803 missense probably damaging 1.00
R1731:Zscan22 UTSW 7 12906980 missense probably damaging 1.00
R1944:Zscan22 UTSW 7 12903840 missense probably damaging 0.98
R2258:Zscan22 UTSW 7 12903960 missense probably damaging 1.00
R2276:Zscan22 UTSW 7 12906823 nonsense probably null
R3115:Zscan22 UTSW 7 12907290 missense probably benign 0.39
R4064:Zscan22 UTSW 7 12907014 missense probably damaging 1.00
R4691:Zscan22 UTSW 7 12906561 missense probably benign 0.06
R5355:Zscan22 UTSW 7 12906508 missense probably benign 0.00
R5607:Zscan22 UTSW 7 12906992 missense probably damaging 1.00
R5608:Zscan22 UTSW 7 12906992 missense probably damaging 1.00
R5789:Zscan22 UTSW 7 12903926 missense probably benign
R6293:Zscan22 UTSW 7 12906907 nonsense probably null
R7210:Zscan22 UTSW 7 12906821 missense probably damaging 0.98
R7475:Zscan22 UTSW 7 12906737 missense probably damaging 0.99
R7491:Zscan22 UTSW 7 12906906 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAGTAAATGAGCTGGGCC -3'
(R):5'- GGAAGTTGGGCCACATGTTG -3'

Sequencing Primer
(F):5'- ATGAGCTGGGCCTGAAGC -3'
(R):5'- TGTTAGACTCATGGCCAGGC -3'
Posted On2015-06-24