Incidental Mutation 'IGL01511:Zscan5b'
ID 89224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zscan5b
Ensembl Gene ENSMUSG00000058028
Gene Name zinc finger and SCAN domain containing 5B
Synonyms Zfg1, Zfp371
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01511
Quality Score
Status
Chromosome 7
Chromosomal Location 6222278-6239423 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 6231422 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 149 (H149P)
Ref Sequence ENSEMBL: ENSMUSP00000126044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072662] [ENSMUST00000155314] [ENSMUST00000165445]
AlphaFold B2RTN3
Predicted Effect probably benign
Transcript: ENSMUST00000072662
AA Change: H149P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: H149P

DomainStartEndE-ValueType
Pfam:SCAN 31 121 1.6e-25 PFAM
low complexity region 157 166 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
low complexity region 302 314 N/A INTRINSIC
ZnF_C2H2 326 348 3.11e-2 SMART
ZnF_C2H2 354 376 1.28e-3 SMART
ZnF_C2H2 382 404 1.36e-2 SMART
ZnF_C2H2 410 432 3.16e-3 SMART
ZnF_C2H2 438 460 1.06e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155314
SMART Domains Protein: ENSMUSP00000118508
Gene: ENSMUSG00000058028

DomainStartEndE-ValueType
Pfam:SCAN 31 121 4.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165445
AA Change: H149P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: H149P

DomainStartEndE-ValueType
Pfam:SCAN 33 120 1e-25 PFAM
low complexity region 157 166 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
low complexity region 302 314 N/A INTRINSIC
ZnF_C2H2 326 348 3.11e-2 SMART
ZnF_C2H2 354 376 1.28e-3 SMART
ZnF_C2H2 382 404 1.36e-2 SMART
ZnF_C2H2 410 432 3.16e-3 SMART
ZnF_C2H2 438 460 1.06e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,244,310 D216E probably benign Het
Abcc4 C A 14: 118,599,341 L669F probably benign Het
Adam29 C T 8: 55,871,421 G666D probably damaging Het
Adat2 T G 10: 13,560,238 M109R probably null Het
Atf3 T A 1: 191,171,496 T178S probably benign Het
Birc6 T A 17: 74,627,003 Y2522* probably null Het
Ccr8 G A 9: 120,094,625 G269R probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Chrna4 C T 2: 181,028,668 V432I probably benign Het
Commd8 A G 5: 72,165,379 V65A probably benign Het
Cyp2j13 A G 4: 96,077,315 F52L possibly damaging Het
Desi1 T A 15: 82,002,588 K45* probably null Het
Dmbt1 T A 7: 131,116,728 M1552K possibly damaging Het
Dna2 G A 10: 62,955,314 M197I possibly damaging Het
Dnah7a A C 1: 53,419,595 L3795V probably damaging Het
Fam221b T C 4: 43,660,135 probably null Het
Fbxw18 A T 9: 109,688,821 S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 Y125C unknown Het
Gcsam T C 16: 45,615,952 Y11H probably damaging Het
Gucy2f G T X: 142,161,734 D410E probably damaging Het
Hdac3 C T 18: 37,952,595 A53T probably benign Het
Lamp2 A G X: 38,431,875 L244P probably damaging Het
Lrrk1 A T 7: 66,265,450 F1630Y possibly damaging Het
M1ap C A 6: 83,028,412 D434E probably benign Het
Mcmbp A G 7: 128,707,164 Y378H probably damaging Het
Mvb12a T A 8: 71,545,302 V120E probably damaging Het
Nbeal2 A C 9: 110,629,234 W2063G probably damaging Het
Neto1 A C 18: 86,395,908 H9P possibly damaging Het
Nmu C T 5: 76,340,821 V126M probably damaging Het
Odf2 T C 2: 29,914,309 probably benign Het
Olfr1387 A G 11: 49,460,216 E179G probably damaging Het
Pdzrn3 T C 6: 101,153,256 H533R possibly damaging Het
Pikfyve G T 1: 65,258,869 E1586* probably null Het
Plcb3 C A 19: 6,955,843 R970L probably damaging Het
Plxna3 A G X: 74,335,308 E686G probably damaging Het
Polrmt T A 10: 79,740,151 Y586F probably benign Het
Ppt1 T A 4: 122,854,425 F225I probably damaging Het
Prcc T G 3: 87,872,241 D162A probably damaging Het
Ripor1 T C 8: 105,619,930 probably benign Het
Rnaseh1 A G 12: 28,659,009 H263R probably damaging Het
Rnf19b T A 4: 129,080,418 S490R probably damaging Het
Slc15a2 T A 16: 36,784,726 T23S probably damaging Het
Slc17a2 T C 13: 23,819,138 probably null Het
Slc35f4 T C 14: 49,298,877 M434V probably benign Het
Slc52a3 C T 2: 152,004,644 T175I probably benign Het
Slc5a2 C T 7: 128,270,622 T409M probably benign Het
Tbc1d24 A G 17: 24,181,918 S108P probably benign Het
Thnsl2 T G 6: 71,139,793 Q125P probably benign Het
Ttc13 T C 8: 124,676,371 D672G probably damaging Het
Ttn G T 2: 76,753,745 H14013N possibly damaging Het
Unc5a T C 13: 55,004,816 F792L probably damaging Het
Vac14 T C 8: 110,712,798 V669A possibly damaging Het
Vmn1r13 A T 6: 57,210,329 M158L probably benign Het
Vmn1r220 A T 13: 23,184,214 V104D probably damaging Het
Wdr78 T C 4: 103,048,361 D741G possibly damaging Het
Zfp738 A T 13: 67,683,401 probably null Het
Other mutations in Zscan5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0505:Zscan5b UTSW 7 6239075 missense probably damaging 0.99
R0535:Zscan5b UTSW 7 6233912 missense possibly damaging 0.72
R1401:Zscan5b UTSW 7 6230426 missense probably damaging 1.00
R1537:Zscan5b UTSW 7 6233851 missense probably benign 0.00
R1613:Zscan5b UTSW 7 6230375 missense probably damaging 1.00
R1820:Zscan5b UTSW 7 6239163 missense probably damaging 1.00
R1833:Zscan5b UTSW 7 6238966 missense possibly damaging 0.67
R2191:Zscan5b UTSW 7 6231443 missense possibly damaging 0.53
R3177:Zscan5b UTSW 7 6231346 missense possibly damaging 0.86
R3277:Zscan5b UTSW 7 6231346 missense possibly damaging 0.86
R4911:Zscan5b UTSW 7 6239190 makesense probably null
R5624:Zscan5b UTSW 7 6230519 missense probably benign 0.00
R8213:Zscan5b UTSW 7 6233947 missense possibly damaging 0.93
R8214:Zscan5b UTSW 7 6233947 missense possibly damaging 0.93
R8326:Zscan5b UTSW 7 6233947 missense possibly damaging 0.93
R8327:Zscan5b UTSW 7 6233947 missense possibly damaging 0.93
R8328:Zscan5b UTSW 7 6233947 missense possibly damaging 0.93
R8985:Zscan5b UTSW 7 6238835 missense probably damaging 0.99
R9474:Zscan5b UTSW 7 6231473 missense probably benign 0.00
R9717:Zscan5b UTSW 7 6231526 missense possibly damaging 0.73
X0018:Zscan5b UTSW 7 6230276 missense probably damaging 0.97
X0024:Zscan5b UTSW 7 6238949 missense probably benign 0.00
X0025:Zscan5b UTSW 7 6238615 missense probably benign 0.18
Z1177:Zscan5b UTSW 7 6230217 frame shift probably null
Posted On 2013-12-03