Incidental Mutation 'R1613:Zscan5b'
ID 176929
Institutional Source Beutler Lab
Gene Symbol Zscan5b
Ensembl Gene ENSMUSG00000058028
Gene Name zinc finger and SCAN domain containing 5B
Synonyms Zfp371, Zfg1
MMRRC Submission 039650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1613 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 6225277-6242416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6233374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 66 (L66Q)
Ref Sequence ENSEMBL: ENSMUSP00000118508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072662] [ENSMUST00000155314] [ENSMUST00000165445]
AlphaFold B2RTN3
Predicted Effect probably damaging
Transcript: ENSMUST00000072662
AA Change: L66Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072449
Gene: ENSMUSG00000058028
AA Change: L66Q

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 damaging
Transcript: ENSMUST00000155314
AA Change: L66Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118508
Gene: ENSMUSG00000058028
AA Change: L66Q

DomainStartEndE-ValueType
Pfam:SCAN 31 121 4.1e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000165445
AA Change: L66Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126044
Gene: ENSMUSG00000058028
AA Change: L66Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 82% (69/84)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Aldh3a1 A T 11: 61,105,377 (GRCm39) D161V probably damaging Het
Aloxe3 A G 11: 69,020,872 (GRCm39) D199G possibly damaging Het
Amfr T A 8: 94,725,854 (GRCm39) M176L probably benign Het
Amigo1 A T 3: 108,095,536 (GRCm39) E345V probably benign Het
Atp13a3 T C 16: 30,151,118 (GRCm39) Y1064C probably damaging Het
Brd7 A T 8: 89,073,578 (GRCm39) C271S probably benign Het
Bub1b T A 2: 118,470,222 (GRCm39) probably null Het
Ccdc146 T A 5: 21,499,522 (GRCm39) I887F probably damaging Het
Ceacam14 T C 7: 17,547,973 (GRCm39) probably benign Het
Cntn1 T A 15: 92,143,871 (GRCm39) V278E possibly damaging Het
Col6a6 A C 9: 105,609,410 (GRCm39) probably null Het
Cspp1 C T 1: 10,203,466 (GRCm39) R1016C probably damaging Het
Cyp2c39 A G 19: 39,527,455 (GRCm39) Y267C probably damaging Het
Cyp2c67 C T 19: 39,614,643 (GRCm39) V295I probably benign Het
Cyp2d40 T C 15: 82,645,640 (GRCm39) T122A unknown Het
Dennd10 T A 19: 60,810,763 (GRCm39) V171D possibly damaging Het
Dmxl2 A G 9: 54,289,311 (GRCm39) I2541T probably benign Het
Eif3e G A 15: 43,113,620 (GRCm39) A438V possibly damaging Het
Fam178b C A 1: 36,639,273 (GRCm39) W342L probably benign Het
Fam78a G T 2: 31,959,581 (GRCm39) N176K probably damaging Het
Ghrhr A T 6: 55,356,682 (GRCm39) K93M probably damaging Het
Gm1527 T A 3: 28,953,002 (GRCm39) probably null Het
Gm1553 G A 10: 82,328,430 (GRCm39) probably benign Het
Gm5885 G A 6: 133,508,205 (GRCm39) noncoding transcript Het
Gm8674 G A 13: 50,056,474 (GRCm39) noncoding transcript Het
Hoxc6 C T 15: 102,918,017 (GRCm39) probably benign Het
Ino80 T C 2: 119,223,348 (GRCm39) T1189A probably damaging Het
Iqgap1 T C 7: 80,418,205 (GRCm39) E55G probably damaging Het
Kcnh2 G A 5: 24,527,760 (GRCm39) probably benign Het
Lama1 G A 17: 68,114,918 (GRCm39) G2356S probably benign Het
Mdfic T A 6: 15,799,589 (GRCm39) probably null Het
Me3 T C 7: 89,435,628 (GRCm39) probably benign Het
Mmadhc T C 2: 50,170,338 (GRCm39) D258G probably damaging Het
Nfe2 T C 15: 103,157,556 (GRCm39) D145G probably damaging Het
Nkapd1 T C 9: 50,519,105 (GRCm39) K169R probably damaging Het
Or10j3b C T 1: 173,043,434 (GRCm39) T72I probably benign Het
Or1ad1 T A 11: 50,876,045 (GRCm39) N172K probably damaging Het
Or1j20 A C 2: 36,760,405 (GRCm39) I276L possibly damaging Het
Or2y1e A G 11: 49,218,520 (GRCm39) Y94C probably damaging Het
Or4a67 T C 2: 88,598,149 (GRCm39) N170S probably damaging Het
Or4k1 A C 14: 50,377,751 (GRCm39) L115R probably damaging Het
Or5al5 A T 2: 85,961,407 (GRCm39) L200Q probably damaging Het
P4ha3 A T 7: 99,962,457 (GRCm39) D405V possibly damaging Het
Palmd T C 3: 116,717,153 (GRCm39) D448G probably damaging Het
Pclo T C 5: 14,729,146 (GRCm39) probably benign Het
Pcsk6 A G 7: 65,560,059 (GRCm39) probably benign Het
Pidd1 T C 7: 141,020,690 (GRCm39) E469G probably damaging Het
Ptpn13 A G 5: 103,684,737 (GRCm39) D875G possibly damaging Het
Rasgrf2 A G 13: 92,050,740 (GRCm39) L886P probably damaging Het
Scrib G A 15: 75,920,391 (GRCm39) R1454C probably damaging Het
Slc24a1 A G 9: 64,855,978 (GRCm39) S310P unknown Het
Slc44a5 A G 3: 153,963,351 (GRCm39) probably null Het
Snx4 T G 16: 33,106,416 (GRCm39) M283R probably damaging Het
Snx7 A T 3: 117,623,222 (GRCm39) probably benign Het
Stk19 A T 17: 35,043,574 (GRCm39) L212H probably damaging Het
Sult2a4 T C 7: 13,723,420 (GRCm39) K32E probably damaging Het
Tfrc T A 16: 32,442,193 (GRCm39) Y473N probably damaging Het
Tlr2 C G 3: 83,744,660 (GRCm39) L474F probably damaging Het
Tnfrsf4 T A 4: 156,100,619 (GRCm39) F213I probably benign Het
Trim9 A T 12: 70,295,169 (GRCm39) I651N probably damaging Het
Vmn1r84 T A 7: 12,096,460 (GRCm39) I78L possibly damaging Het
Vmn2r77 T C 7: 86,460,356 (GRCm39) Y561H probably damaging Het
Vmn2r95 A G 17: 18,660,901 (GRCm39) probably benign Het
Zfp11 T C 5: 129,735,431 (GRCm39) N10S probably benign Het
Zfp81 A T 17: 33,553,757 (GRCm39) H352Q probably damaging Het
Other mutations in Zscan5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Zscan5b APN 7 6,234,421 (GRCm39) missense probably benign 0.00
R0505:Zscan5b UTSW 7 6,242,074 (GRCm39) missense probably damaging 0.99
R0535:Zscan5b UTSW 7 6,236,911 (GRCm39) missense possibly damaging 0.72
R1401:Zscan5b UTSW 7 6,233,425 (GRCm39) missense probably damaging 1.00
R1537:Zscan5b UTSW 7 6,236,850 (GRCm39) missense probably benign 0.00
R1820:Zscan5b UTSW 7 6,242,162 (GRCm39) missense probably damaging 1.00
R1833:Zscan5b UTSW 7 6,241,965 (GRCm39) missense possibly damaging 0.67
R2191:Zscan5b UTSW 7 6,234,442 (GRCm39) missense possibly damaging 0.53
R3177:Zscan5b UTSW 7 6,234,345 (GRCm39) missense possibly damaging 0.86
R3277:Zscan5b UTSW 7 6,234,345 (GRCm39) missense possibly damaging 0.86
R4911:Zscan5b UTSW 7 6,242,189 (GRCm39) makesense probably null
R5624:Zscan5b UTSW 7 6,233,518 (GRCm39) missense probably benign 0.00
R8213:Zscan5b UTSW 7 6,236,946 (GRCm39) missense possibly damaging 0.93
R8214:Zscan5b UTSW 7 6,236,946 (GRCm39) missense possibly damaging 0.93
R8326:Zscan5b UTSW 7 6,236,946 (GRCm39) missense possibly damaging 0.93
R8327:Zscan5b UTSW 7 6,236,946 (GRCm39) missense possibly damaging 0.93
R8328:Zscan5b UTSW 7 6,236,946 (GRCm39) missense possibly damaging 0.93
R8985:Zscan5b UTSW 7 6,241,834 (GRCm39) missense probably damaging 0.99
R9474:Zscan5b UTSW 7 6,234,472 (GRCm39) missense probably benign 0.00
R9717:Zscan5b UTSW 7 6,234,525 (GRCm39) missense possibly damaging 0.73
X0018:Zscan5b UTSW 7 6,233,275 (GRCm39) missense probably damaging 0.97
X0024:Zscan5b UTSW 7 6,241,948 (GRCm39) missense probably benign 0.00
X0025:Zscan5b UTSW 7 6,241,614 (GRCm39) missense probably benign 0.18
Z1177:Zscan5b UTSW 7 6,233,216 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TACGAATGTGCCGCCAGATAGC -3'
(R):5'- AAGATCCTCTACAGGTTCTGCTCCC -3'

Sequencing Primer
(F):5'- AGATAGCCCTGTCAGGTCAG -3'
(R):5'- GACATAGCTGAGGCTCTGCTTAC -3'
Posted On 2014-04-24