Incidental Mutation 'R8056:Zscan12'
ID 619399
Institutional Source Beutler Lab
Gene Symbol Zscan12
Ensembl Gene ENSMUSG00000036721
Gene Name zinc finger and SCAN domain containing 12
Synonyms Zfp96
MMRRC Submission 067493-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8056 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 21546990-21556459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 21553492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 439 (Q439E)
Ref Sequence ENSEMBL: ENSMUSP00000058904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053293] [ENSMUST00000099720] [ENSMUST00000225545]
AlphaFold Q9Z1D7
Predicted Effect probably benign
Transcript: ENSMUST00000053293
AA Change: Q439E

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058904
Gene: ENSMUSG00000036721
AA Change: Q439E

DomainStartEndE-ValueType
SCAN 42 154 2.52e-74 SMART
ZnF_C2H2 269 291 5.5e-3 SMART
ZnF_C2H2 297 319 1.72e-4 SMART
ZnF_C2H2 325 347 1.22e-4 SMART
ZnF_C2H2 353 375 5.5e-3 SMART
ZnF_C2H2 381 403 1.95e-3 SMART
ZnF_C2H2 409 431 1.45e-2 SMART
ZnF_C2H2 455 477 2.43e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099720
AA Change: Q439E

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097308
Gene: ENSMUSG00000036721
AA Change: Q439E

DomainStartEndE-ValueType
SCAN 42 154 2.52e-74 SMART
ZnF_C2H2 269 291 5.5e-3 SMART
ZnF_C2H2 297 319 1.72e-4 SMART
ZnF_C2H2 325 347 1.22e-4 SMART
ZnF_C2H2 353 375 5.5e-3 SMART
ZnF_C2H2 381 403 1.95e-3 SMART
ZnF_C2H2 409 431 1.45e-2 SMART
ZnF_C2H2 455 477 2.43e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225545
AA Change: Q439E

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T C 11: 48,910,909 (GRCm39) E508G probably benign Het
Acsl3 C T 1: 78,659,611 (GRCm39) L88F probably damaging Het
Adamtsl1 C T 4: 86,260,269 (GRCm39) P835S possibly damaging Het
Agrn A G 4: 156,254,868 (GRCm39) V1616A probably benign Het
Bmerb1 T A 16: 13,856,180 (GRCm39) probably benign Het
Brca2 T C 5: 150,492,771 (GRCm39) V3262A possibly damaging Het
Bsn T C 9: 107,982,506 (GRCm39) D977G Het
Cic G T 7: 24,990,366 (GRCm39) A1956S possibly damaging Het
Clip4 C A 17: 72,110,587 (GRCm39) T189K probably damaging Het
Col12a1 T C 9: 79,507,220 (GRCm39) E279G Het
Col24a1 A C 3: 145,019,925 (GRCm39) I99L possibly damaging Het
Cpne3 A G 4: 19,532,426 (GRCm39) V329A possibly damaging Het
Cyp17a1 T C 19: 46,659,030 (GRCm39) I204V possibly damaging Het
Cyp2c66 A G 19: 39,130,485 (GRCm39) I107V probably benign Het
Dennd4c A G 4: 86,763,213 (GRCm39) R1840G probably null Het
Dhx36 A T 3: 62,396,012 (GRCm39) L465Q possibly damaging Het
Edc4 A G 8: 106,617,116 (GRCm39) probably benign Het
Efcab3 A G 11: 104,799,896 (GRCm39) T2931A probably damaging Het
Fam133b A T 5: 3,615,744 (GRCm39) R215S unknown Het
Fbh1 G A 2: 11,748,441 (GRCm39) T985I probably benign Het
Fras1 A G 5: 96,892,633 (GRCm39) D2911G probably damaging Het
Gm13889 A T 2: 93,787,020 (GRCm39) D151E probably damaging Het
Gosr2 C A 11: 103,588,530 (GRCm39) probably benign Het
Igkv8-26 T A 6: 70,170,706 (GRCm39) L99H probably damaging Het
Inhca A G 9: 103,143,423 (GRCm39) C438R probably damaging Het
Kif16b A G 2: 142,554,762 (GRCm39) F679L probably damaging Het
Kif1a G C 1: 92,982,423 (GRCm39) probably benign Het
Kif3b G C 2: 153,171,979 (GRCm39) R716S possibly damaging Het
Lilra6 A T 7: 3,915,551 (GRCm39) C395S probably damaging Het
Lrp5 A G 19: 3,647,337 (GRCm39) F1302L probably damaging Het
Map2 T G 1: 66,454,779 (GRCm39) V1223G probably damaging Het
Mical1 T A 10: 41,357,168 (GRCm39) N324K probably damaging Het
Morc3 T A 16: 93,642,064 (GRCm39) H94Q probably benign Het
Mpped1 T C 15: 83,720,663 (GRCm39) V199A possibly damaging Het
Msx1 G A 5: 37,981,544 (GRCm39) T45I probably benign Het
Myh7 G A 14: 55,210,776 (GRCm39) Q1714* probably null Het
Narf T C 11: 121,136,170 (GRCm39) V182A possibly damaging Het
Ncapd2 G A 6: 125,148,006 (GRCm39) T1107M probably damaging Het
Nek3 A G 8: 22,619,359 (GRCm39) probably null Het
Neurog1 G T 13: 56,399,223 (GRCm39) P175T probably damaging Het
Nlrp9c T C 7: 26,085,112 (GRCm39) T156A probably damaging Het
Or1ad1 T A 11: 50,876,368 (GRCm39) V280E probably damaging Het
Or2a20 A T 6: 43,193,978 (GRCm39) I44F probably damaging Het
Or6c3 G A 10: 129,309,061 (GRCm39) A167T probably benign Het
Orm3 A G 4: 63,277,594 (GRCm39) E194G probably benign Het
Pga5 A C 19: 10,654,161 (GRCm39) probably benign Het
Pik3r2 G T 8: 71,225,011 (GRCm39) P151T probably benign Het
Pkp2 T C 16: 16,031,264 (GRCm39) C10R probably benign Het
Plxdc1 T A 11: 97,869,343 (GRCm39) R82W probably damaging Het
Polr2c G A 8: 95,586,895 (GRCm39) A54T probably benign Het
Rab31 T C 17: 66,024,503 (GRCm39) I59V probably benign Het
Rasgrf2 T C 13: 92,167,321 (GRCm39) M251V probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rfc1 A C 5: 65,451,436 (GRCm39) probably benign Het
Rhag T C 17: 41,139,679 (GRCm39) I137T probably damaging Het
Rnf216 T C 5: 142,978,616 (GRCm39) M841V probably benign Het
Scaf11 C A 15: 96,312,698 (GRCm39) E1448* probably null Het
Septin11 T C 5: 93,315,435 (GRCm39) L388P unknown Het
Serpina1b A T 12: 103,784,137 (GRCm39) probably benign Het
Skint10 A G 4: 112,573,010 (GRCm39) I262T probably benign Het
Slc13a4 C T 6: 35,245,887 (GRCm39) G586E probably damaging Het
Slc8a1 C T 17: 81,955,352 (GRCm39) G562E probably damaging Het
Slc8b1 T A 5: 120,658,682 (GRCm39) L126Q probably damaging Het
Smg1 A G 7: 117,759,589 (GRCm39) Y2086H unknown Het
Spmip10 A G 18: 56,727,763 (GRCm39) N79S Het
Taf1c A T 8: 120,330,202 (GRCm39) D47E probably benign Het
Tbx5 A C 5: 119,991,678 (GRCm39) M250L probably benign Het
Tekt3 T C 11: 62,974,785 (GRCm39) probably null Het
Topors T C 4: 40,262,221 (GRCm39) I354M probably benign Het
Ttn C A 2: 76,778,574 (GRCm39) G1309V unknown Het
Ttyh1 C T 7: 4,127,622 (GRCm39) probably benign Het
Ubac1 A G 2: 25,897,909 (GRCm39) I237T probably benign Het
Vmn1r197 T A 13: 22,512,388 (GRCm39) V103D probably damaging Het
Zfp184 T C 13: 22,143,008 (GRCm39) F238S probably damaging Het
Zfp445 A G 9: 122,681,032 (GRCm39) F970L possibly damaging Het
Zfp90 A T 8: 107,151,112 (GRCm39) E275V probably damaging Het
Other mutations in Zscan12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02864:Zscan12 APN 13 21,552,730 (GRCm39) missense probably benign 0.02
PIT4480001:Zscan12 UTSW 13 21,552,744 (GRCm39) missense possibly damaging 0.72
R0122:Zscan12 UTSW 13 21,553,139 (GRCm39) missense probably damaging 1.00
R1605:Zscan12 UTSW 13 21,550,813 (GRCm39) missense probably benign 0.00
R1639:Zscan12 UTSW 13 21,553,156 (GRCm39) missense probably damaging 0.99
R2182:Zscan12 UTSW 13 21,552,961 (GRCm39) missense probably benign 0.33
R2931:Zscan12 UTSW 13 21,548,187 (GRCm39) missense possibly damaging 0.92
R3930:Zscan12 UTSW 13 21,552,800 (GRCm39) missense probably benign 0.18
R4368:Zscan12 UTSW 13 21,553,553 (GRCm39) missense probably benign 0.00
R4461:Zscan12 UTSW 13 21,550,789 (GRCm39) missense possibly damaging 0.83
R4545:Zscan12 UTSW 13 21,550,875 (GRCm39) missense possibly damaging 0.83
R5353:Zscan12 UTSW 13 21,548,178 (GRCm39) missense possibly damaging 0.51
R6580:Zscan12 UTSW 13 21,553,328 (GRCm39) missense probably damaging 0.99
R6734:Zscan12 UTSW 13 21,552,966 (GRCm39) nonsense probably null
R7462:Zscan12 UTSW 13 21,553,457 (GRCm39) missense possibly damaging 0.94
R7505:Zscan12 UTSW 13 21,552,756 (GRCm39) missense possibly damaging 0.72
R7822:Zscan12 UTSW 13 21,553,374 (GRCm39) missense probably damaging 0.99
R8028:Zscan12 UTSW 13 21,553,022 (GRCm39) missense probably benign 0.01
R8161:Zscan12 UTSW 13 21,547,897 (GRCm39) missense probably benign 0.01
R8784:Zscan12 UTSW 13 21,547,991 (GRCm39) missense possibly damaging 0.82
R8794:Zscan12 UTSW 13 21,547,847 (GRCm39) missense possibly damaging 0.53
R9716:Zscan12 UTSW 13 21,547,938 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- AGTTTTACTCAGCACTCGCG -3'
(R):5'- AAGCTCTGACTCCTGTCTGAAGG -3'

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