Incidental Mutation 'R1618:Zscan2'
ID 174432
Institutional Source Beutler Lab
Gene Symbol Zscan2
Ensembl Gene ENSMUSG00000038797
Gene Name zinc finger and SCAN domain containing 2
Synonyms Zfp29, Zfp-29
MMRRC Submission 039655-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1618 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80510668-80526285 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 80525534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 418 (Y418*)
Ref Sequence ENSEMBL: ENSMUSP00000121143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044115] [ENSMUST00000132163] [ENSMUST00000147125] [ENSMUST00000155128]
AlphaFold Q07230
Predicted Effect probably null
Transcript: ENSMUST00000044115
AA Change: Y418*
SMART Domains Protein: ENSMUSP00000042321
Gene: ENSMUSG00000038797
AA Change: Y418*

DomainStartEndE-ValueType
SCAN 64 160 3.18e-21 SMART
low complexity region 164 177 N/A INTRINSIC
ZnF_C2H2 222 244 3.49e-5 SMART
ZnF_C2H2 250 272 5.21e-4 SMART
ZnF_C2H2 278 300 1.72e-4 SMART
ZnF_C2H2 306 328 3.69e-4 SMART
ZnF_C2H2 334 356 9.88e-5 SMART
ZnF_C2H2 362 384 4.87e-4 SMART
ZnF_C2H2 390 412 2.43e-4 SMART
ZnF_C2H2 418 440 1.69e-3 SMART
ZnF_C2H2 446 468 2.4e-3 SMART
ZnF_C2H2 474 496 1.69e-3 SMART
ZnF_C2H2 502 524 3.21e-4 SMART
ZnF_C2H2 530 552 1.92e-2 SMART
ZnF_C2H2 558 580 4.24e-4 SMART
ZnF_C2H2 586 608 4.61e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132163
SMART Domains Protein: ENSMUSP00000118774
Gene: ENSMUSG00000038797

DomainStartEndE-ValueType
SCAN 64 144 5.98e-17 SMART
Predicted Effect probably null
Transcript: ENSMUST00000147125
AA Change: Y418*
SMART Domains Protein: ENSMUSP00000121143
Gene: ENSMUSG00000038797
AA Change: Y418*

DomainStartEndE-ValueType
SCAN 64 160 3.18e-21 SMART
low complexity region 164 177 N/A INTRINSIC
ZnF_C2H2 222 244 3.49e-5 SMART
ZnF_C2H2 250 272 5.21e-4 SMART
ZnF_C2H2 278 300 1.72e-4 SMART
ZnF_C2H2 306 328 3.69e-4 SMART
ZnF_C2H2 334 356 9.88e-5 SMART
ZnF_C2H2 362 384 4.87e-4 SMART
ZnF_C2H2 390 412 2.43e-4 SMART
ZnF_C2H2 418 440 1.69e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155128
SMART Domains Protein: ENSMUSP00000117886
Gene: ENSMUSG00000038797

DomainStartEndE-ValueType
SCAN 64 160 3.18e-21 SMART
low complexity region 164 177 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
Validation Efficiency 96% (79/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik T C 14: 105,736,380 (GRCm39) noncoding transcript Het
Abca8b A T 11: 109,840,714 (GRCm39) probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Anln A G 9: 22,262,214 (GRCm39) probably null Het
Anpep T G 7: 79,485,165 (GRCm39) Q607P probably benign Het
Arl13b A C 16: 62,633,640 (GRCm39) probably null Het
Asxl3 T C 18: 22,650,044 (GRCm39) S678P probably damaging Het
Atf6b C T 17: 34,866,702 (GRCm39) Q58* probably null Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Cfap46 T A 7: 139,232,726 (GRCm39) M782L probably benign Het
Cngb3 T C 4: 19,364,260 (GRCm39) S155P probably benign Het
Coro1a T C 7: 126,300,719 (GRCm39) I162V probably benign Het
Cry1 T A 10: 84,982,318 (GRCm39) I343F probably damaging Het
Csnk1e A T 15: 79,309,050 (GRCm39) M292K probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Cul9 A T 17: 46,836,818 (GRCm39) M1069K probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dnah11 T C 12: 117,979,200 (GRCm39) I2633V probably damaging Het
Eif4g3 C A 4: 137,933,369 (GRCm39) D1731E probably damaging Het
Epb41l4b T C 4: 57,032,204 (GRCm39) T592A probably benign Het
Evi5 T C 5: 107,946,984 (GRCm39) probably benign Het
Exo1 T A 1: 175,728,952 (GRCm39) M672K probably benign Het
Fcho1 T C 8: 72,163,047 (GRCm39) S661G probably damaging Het
Fnip2 A G 3: 79,415,475 (GRCm39) Y188H possibly damaging Het
Foxb1 T C 9: 69,667,293 (GRCm39) D79G probably damaging Het
Fyco1 T C 9: 123,658,346 (GRCm39) Y610C probably damaging Het
Gm3095 T A 14: 15,170,441 (GRCm39) Y97N probably damaging Het
Gm3095 C A 14: 15,170,440 (GRCm39) N96K probably damaging Het
Gmfb A T 14: 47,049,237 (GRCm39) L128* probably null Het
Gprc5c T A 11: 114,755,220 (GRCm39) V299D possibly damaging Het
Hsfy2 C T 1: 56,676,388 (GRCm39) V50I probably benign Het
Hspa12b A C 2: 130,982,849 (GRCm39) K236Q probably benign Het
Impg2 A G 16: 56,080,221 (GRCm39) Y566C probably damaging Het
Itpr3 A C 17: 27,335,581 (GRCm39) probably null Het
Kprp G A 3: 92,732,783 (GRCm39) T89I probably damaging Het
Lcmt2 T C 2: 120,969,133 (GRCm39) E650G probably damaging Het
Lrch1 T C 14: 75,051,144 (GRCm39) D331G probably damaging Het
Mroh9 T A 1: 162,852,110 (GRCm39) I860F probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myt1l A G 12: 29,877,396 (GRCm39) D349G unknown Het
Ndufs2 T C 1: 171,073,690 (GRCm39) T31A probably benign Het
Ndufs3 A T 2: 90,729,016 (GRCm39) S157T probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Noct T A 3: 51,155,251 (GRCm39) S6R probably damaging Het
Npas2 T A 1: 39,339,808 (GRCm39) H119Q probably damaging Het
Oprl1 A T 2: 181,360,646 (GRCm39) Y207F probably benign Het
Or2n1e G A 17: 38,586,557 (GRCm39) probably null Het
Or4c11 A G 2: 88,695,871 (GRCm39) probably null Het
Or8k30 T G 2: 86,339,193 (GRCm39) L130R probably damaging Het
Palm3 G T 8: 84,756,291 (GRCm39) S601I possibly damaging Het
Plscr1 T A 9: 92,148,548 (GRCm39) C163S probably damaging Het
Ptprk A T 10: 28,369,166 (GRCm39) M713L probably benign Het
Rdm1 A G 11: 101,519,217 (GRCm39) D72G possibly damaging Het
Reln T C 5: 22,265,366 (GRCm39) D442G probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sbno1 T C 5: 124,542,279 (GRCm39) Y338C probably damaging Het
Seh1l T G 18: 67,921,806 (GRCm39) V222G probably damaging Het
Septin12 T C 16: 4,814,340 (GRCm39) K43R probably damaging Het
Slc25a18 A C 6: 120,763,303 (GRCm39) probably benign Het
Slc33a1 T C 3: 63,855,650 (GRCm39) T332A possibly damaging Het
Slc35d3 A G 10: 19,724,909 (GRCm39) S316P probably benign Het
Spmip7 A G 11: 11,438,641 (GRCm39) probably benign Het
Srrm2 T A 17: 24,037,906 (GRCm39) probably benign Het
Srsf12 C T 4: 33,230,974 (GRCm39) S156L probably damaging Het
Syce3 A G 15: 89,274,606 (GRCm39) M49T probably benign Het
Tjp3 T C 10: 81,112,094 (GRCm39) probably benign Het
Tnks G T 8: 35,342,430 (GRCm39) N373K probably damaging Het
Togaram1 A G 12: 65,013,847 (GRCm39) N366S possibly damaging Het
Trpm1 G A 7: 63,890,283 (GRCm39) R962H probably damaging Het
Trpm6 A T 19: 18,854,995 (GRCm39) M1885L possibly damaging Het
Tshz3 A G 7: 36,471,221 (GRCm39) D1070G probably damaging Het
Ush2a T C 1: 188,546,421 (GRCm39) M3399T probably benign Het
Utp15 G A 13: 98,393,695 (GRCm39) T196I probably benign Het
Vmn1r168 T C 7: 23,240,725 (GRCm39) I194T probably benign Het
Vmn2r73 C T 7: 85,525,120 (GRCm39) W9* probably null Het
Wdr17 T C 8: 55,092,930 (GRCm39) Y1076C probably damaging Het
Zan T C 5: 137,382,092 (GRCm39) T5152A unknown Het
Zbtb46 A T 2: 181,066,042 (GRCm39) V36E possibly damaging Het
Zfp558 T C 9: 18,380,579 (GRCm39) I9M possibly damaging Het
Other mutations in Zscan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Zscan2 APN 7 80,525,164 (GRCm39) missense probably damaging 1.00
IGL01793:Zscan2 APN 7 80,524,692 (GRCm39) missense probably null 0.79
R1570:Zscan2 UTSW 7 80,513,141 (GRCm39) missense probably damaging 1.00
R1622:Zscan2 UTSW 7 80,525,134 (GRCm39) missense probably benign 0.01
R1842:Zscan2 UTSW 7 80,525,301 (GRCm39) missense probably damaging 1.00
R3122:Zscan2 UTSW 7 80,513,092 (GRCm39) missense probably benign 0.41
R3415:Zscan2 UTSW 7 80,525,150 (GRCm39) missense probably damaging 1.00
R4674:Zscan2 UTSW 7 80,525,150 (GRCm39) missense probably damaging 1.00
R5988:Zscan2 UTSW 7 80,525,947 (GRCm39) missense possibly damaging 0.47
R6276:Zscan2 UTSW 7 80,525,557 (GRCm39) missense probably benign
R6379:Zscan2 UTSW 7 80,513,085 (GRCm39) missense probably benign 0.00
R7897:Zscan2 UTSW 7 80,525,448 (GRCm39) missense probably damaging 1.00
R9225:Zscan2 UTSW 7 80,513,021 (GRCm39) missense probably damaging 1.00
R9363:Zscan2 UTSW 7 80,525,331 (GRCm39) missense probably benign 0.31
R9501:Zscan2 UTSW 7 80,525,890 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTTCAGCAGGAGCCCCAACC -3'
(R):5'- TGCATCACCAGAATGGAGCCCC -3'

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