Incidental Mutation 'R7396:Zscan4e'
ID 573813
Institutional Source Beutler Lab
Gene Symbol Zscan4e
Ensembl Gene ENSMUSG00000095936
Gene Name zinc finger and SCAN domain containing 4E
Synonyms EG665848
MMRRC Submission 045478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R7396 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 11040305-11044609 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11041002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 290 (Y290F)
Ref Sequence ENSEMBL: ENSMUSP00000147491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166753] [ENSMUST00000210521]
AlphaFold A0A1B0GRE8
Predicted Effect probably benign
Transcript: ENSMUST00000166753
AA Change: Y290F

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125906
Gene: ENSMUSG00000095936
AA Change: Y290F

DomainStartEndE-ValueType
Pfam:SCAN 43 122 5e-17 PFAM
low complexity region 181 192 N/A INTRINSIC
ZnF_C2H2 394 416 2.75e-3 SMART
ZnF_C2H2 423 445 6.57e-1 SMART
ZnF_C2H2 451 473 7.26e-3 SMART
ZnF_C2H2 479 502 3.83e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166753
AA Change: Y290F

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000210521
AA Change: Y290F

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
Abcb5 A G 12: 118,831,609 (GRCm39) Y1248H probably damaging Het
Acacb A G 5: 114,351,722 (GRCm39) D1153G possibly damaging Het
Acsm3 T A 7: 119,373,052 (GRCm39) L185H probably damaging Het
Actr1a G A 19: 46,368,068 (GRCm39) T293I probably benign Het
Adig T C 2: 158,347,836 (GRCm39) L50P unknown Het
Ankrd28 A G 14: 31,424,159 (GRCm39) S994P probably benign Het
Ankrd35 T A 3: 96,590,813 (GRCm39) D366E probably damaging Het
Aqr A T 2: 113,950,427 (GRCm39) Y927* probably null Het
Asxl2 T A 12: 3,492,529 (GRCm39) I38N probably damaging Het
Atp9b T C 18: 80,780,057 (GRCm39) I1092V Het
B4galnt1 A G 10: 127,007,485 (GRCm39) E462G possibly damaging Het
BC048671 T A 6: 90,280,273 (GRCm39) V63E probably damaging Het
Bod1l A G 5: 41,988,889 (GRCm39) V406A probably damaging Het
Btn1a1 T G 13: 23,645,668 (GRCm39) I234L probably benign Het
Camk2b A C 11: 5,928,432 (GRCm39) S436A probably benign Het
Cc2d1a A T 8: 84,870,374 (GRCm39) probably null Het
Ces1b G T 8: 93,789,757 (GRCm39) N390K probably benign Het
Chpf T C 1: 75,451,927 (GRCm39) Q671R probably benign Het
Cspg4b T A 13: 113,455,524 (GRCm39) S523R Het
Dbr1 C A 9: 99,465,443 (GRCm39) N340K probably damaging Het
Dram1 T A 10: 88,176,507 (GRCm39) T73S probably benign Het
Efemp1 A T 11: 28,817,501 (GRCm39) R39S possibly damaging Het
Eif2b5 T G 16: 20,324,887 (GRCm39) I515S possibly damaging Het
Eif2d A T 1: 131,094,111 (GRCm39) N434I probably benign Het
Ercc6 C T 14: 32,291,762 (GRCm39) T1042I probably benign Het
Etl4 C T 2: 20,803,449 (GRCm39) P1057L possibly damaging Het
Fbxw16 T A 9: 109,278,091 (GRCm39) N29I probably damaging Het
Fbxw18 T C 9: 109,517,954 (GRCm39) D344G probably benign Het
Fgf15 G T 7: 144,453,542 (GRCm39) V172L probably benign Het
Fmod T C 1: 133,967,978 (GRCm39) V6A probably benign Het
Furin C A 7: 80,047,862 (GRCm39) R86L probably benign Het
Gabrr1 T C 4: 33,160,207 (GRCm39) V297A probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Helb T C 10: 119,925,476 (GRCm39) D967G probably benign Het
Hmcn1 T C 1: 150,439,382 (GRCm39) T5601A possibly damaging Het
Hsbp1l1 G T 18: 80,276,634 (GRCm39) P70Q not run Het
Hsd17b1 T C 11: 100,970,033 (GRCm39) V155A probably damaging Het
Ireb2 T A 9: 54,789,617 (GRCm39) M97K possibly damaging Het
Kcnj6 C A 16: 94,563,306 (GRCm39) L397F probably benign Het
Lcorl A T 5: 46,014,801 (GRCm39) probably null Het
Lgi2 A T 5: 52,695,753 (GRCm39) I402N probably damaging Het
Lrat T A 3: 82,810,590 (GRCm39) R144* probably null Het
Mfhas1 G T 8: 36,057,353 (GRCm39) L609F probably damaging Het
Mink1 T A 11: 70,495,994 (GRCm39) I398K possibly damaging Het
Muc5ac A T 7: 141,362,152 (GRCm39) D1821V unknown Het
Myh2 T C 11: 67,085,554 (GRCm39) probably null Het
Ncor1 T C 11: 62,234,044 (GRCm39) E386G probably damaging Het
Ndufaf3 C T 9: 108,443,802 (GRCm39) V76M probably damaging Het
Neurod4 T C 10: 130,106,891 (GRCm39) T128A probably damaging Het
Ogfod1 T A 8: 94,765,615 (GRCm39) D59E probably benign Het
Or2j6 C T 7: 139,980,476 (GRCm39) R161H probably benign Het
Or2w1b T C 13: 21,300,477 (GRCm39) V205A probably benign Het
Or52n2b C T 7: 104,565,558 (GRCm39) S315N probably benign Het
Pcdh15 T A 10: 74,466,522 (GRCm39) V1513D probably benign Het
Pclo C A 5: 14,589,902 (GRCm39) T734K unknown Het
Phc2 A G 4: 128,641,954 (GRCm39) R759G probably benign Het
Plch1 A T 3: 63,606,375 (GRCm39) N1176K probably benign Het
Plec T A 15: 76,059,089 (GRCm39) Y3616F probably damaging Het
Ptpn11 G T 5: 121,282,707 (GRCm39) T426N probably benign Het
Rictor A G 15: 6,816,462 (GRCm39) T1245A not run Het
Rilp T C 11: 75,401,712 (GRCm39) V164A probably damaging Het
Rnf39 A T 17: 37,257,971 (GRCm39) T168S probably damaging Het
Rptor C G 11: 119,763,181 (GRCm39) Q922E probably benign Het
Sall1 A T 8: 89,759,396 (GRCm39) L236Q probably damaging Het
Skint7 A G 4: 111,845,324 (GRCm39) T379A probably benign Het
Spata22 C A 11: 73,236,702 (GRCm39) T336N probably damaging Het
Spata31 T C 13: 65,068,547 (GRCm39) S232P probably benign Het
Spink5 T A 18: 44,110,722 (GRCm39) C98S possibly damaging Het
Stard6 T C 18: 70,633,506 (GRCm39) V171A possibly damaging Het
Tex9 A T 9: 72,388,072 (GRCm39) probably null Het
Traf7 T C 17: 24,728,519 (GRCm39) D621G probably damaging Het
Trak1 C T 9: 121,277,973 (GRCm39) T353M possibly damaging Het
Trim68 A T 7: 102,327,569 (GRCm39) Y461* probably null Het
Usp1 A G 4: 98,814,688 (GRCm39) probably benign Het
Vmn2r42 T A 7: 8,195,641 (GRCm39) I502F probably benign Het
Wbp4 C A 14: 79,714,261 (GRCm39) G84C probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp787 A G 7: 6,135,106 (GRCm39) *382Q probably null Het
Zfp831 G T 2: 174,487,002 (GRCm39) C559F possibly damaging Het
Zgpat G C 2: 181,007,882 (GRCm39) A140P probably benign Het
Other mutations in Zscan4e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03210:Zscan4e APN 7 11,041,459 (GRCm39) missense probably benign 0.02
R0295:Zscan4e UTSW 7 11,041,543 (GRCm39) missense probably damaging 1.00
R4105:Zscan4e UTSW 7 11,041,437 (GRCm39) missense probably benign 0.01
R4645:Zscan4e UTSW 7 11,041,002 (GRCm39) missense possibly damaging 0.76
R7308:Zscan4e UTSW 7 11,041,080 (GRCm39) missense probably benign
R7371:Zscan4e UTSW 7 11,041,251 (GRCm39) missense probably benign
R7643:Zscan4e UTSW 7 11,043,452 (GRCm39) missense probably damaging 0.99
R7767:Zscan4e UTSW 7 11,041,461 (GRCm39) missense probably damaging 0.98
R8307:Zscan4e UTSW 7 11,041,059 (GRCm39) missense probably benign 0.41
R8465:Zscan4e UTSW 7 11,041,578 (GRCm39) missense probably damaging 1.00
R8694:Zscan4e UTSW 7 11,041,574 (GRCm39) missense possibly damaging 0.90
R8813:Zscan4e UTSW 7 11,041,540 (GRCm39) nonsense probably null
R9613:Zscan4e UTSW 7 11,040,898 (GRCm39) nonsense probably null
Z1176:Zscan4e UTSW 7 11,040,906 (GRCm39) missense probably damaging 1.00
Z1177:Zscan4e UTSW 7 11,041,552 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- TTGCCTAGACTGCAACCCTG -3'
(R):5'- TGTCAATTCCCTCGTGGTGC -3'

Sequencing Primer
(F):5'- GGGTCTTTTTCAGAAAAACATTCCCC -3'
(R):5'- AATTCCCTCGTGGTGCCAGAAG -3'
Posted On 2019-09-13