Incidental Mutation 'R2374:Zfy1'
ID 248249
Institutional Source Beutler Lab
Gene Symbol Zfy1
Ensembl Gene ENSMUSG00000053211
Gene Name zinc finger protein 1, Y-linked
Synonyms Zfy-1
MMRRC Submission 040353-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # R2374 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 725207-797409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 726392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 458 (L458V)
Ref Sequence ENSEMBL: ENSMUSP00000140600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065545] [ENSMUST00000189888]
AlphaFold P10925
Predicted Effect possibly damaging
Transcript: ENSMUST00000065545
AA Change: L458V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069364
Gene: ENSMUSG00000053211
AA Change: L458V

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:Zfx_Zfy_act 68 388 1.1e-109 PFAM
ZnF_C2H2 403 425 1.95e-3 SMART
ZnF_C2H2 434 456 1.26e-2 SMART
ZnF_C2H2 466 488 1.05e1 SMART
ZnF_C2H2 497 520 1.41e0 SMART
ZnF_C2H2 526 548 3.69e-4 SMART
ZnF_C2H2 554 577 3.63e-3 SMART
ZnF_C2H2 583 605 8.98e0 SMART
ZnF_C2H2 611 634 3.58e-2 SMART
ZnF_C2H2 640 662 2.95e-3 SMART
ZnF_C2H2 668 691 3.47e0 SMART
ZnF_C2H2 697 719 1.45e-2 SMART
ZnF_C2H2 725 748 1.2e-3 SMART
ZnF_C2H2 754 776 5.81e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000189888
AA Change: L458V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140600
Gene: ENSMUSG00000053211
AA Change: L458V

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
Pfam:Zfx_Zfy_act 67 388 1.2e-141 PFAM
ZnF_C2H2 403 425 1.95e-3 SMART
ZnF_C2H2 434 456 1.26e-2 SMART
ZnF_C2H2 466 488 1.05e1 SMART
ZnF_C2H2 497 520 1.41e0 SMART
ZnF_C2H2 526 548 3.69e-4 SMART
ZnF_C2H2 554 577 3.63e-3 SMART
ZnF_C2H2 583 605 8.98e0 SMART
ZnF_C2H2 611 634 3.58e-2 SMART
ZnF_C2H2 640 662 2.95e-3 SMART
ZnF_C2H2 668 691 3.47e0 SMART
ZnF_C2H2 697 719 1.45e-2 SMART
ZnF_C2H2 725 748 1.2e-3 SMART
ZnF_C2H2 754 776 5.81e-2 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 92.7%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 C T 18: 80,174,202 (GRCm39) R69Q probably damaging Het
Bltp1 A G 3: 36,939,545 (GRCm39) D133G probably benign Het
Celsr3 G A 9: 108,719,751 (GRCm39) R2450H probably benign Het
Clec4b1 T G 6: 123,027,597 (GRCm39) L18R probably damaging Het
Cntrl G A 2: 35,043,288 (GRCm39) V706I possibly damaging Het
Dhx30 A G 9: 109,920,632 (GRCm39) L294P probably damaging Het
Dnaaf9 A G 2: 130,662,494 (GRCm39) Y60H probably damaging Het
Dysf T C 6: 84,074,711 (GRCm39) L504P probably damaging Het
Gm10754 A G 10: 97,518,013 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,764 (GRCm39) probably benign Het
Hydin A G 8: 111,291,780 (GRCm39) N3424S probably damaging Het
Itgb2 G A 10: 77,395,515 (GRCm39) V539I probably benign Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Ly6e A G 15: 74,830,470 (GRCm39) S107G probably damaging Het
Mc3r G A 2: 172,091,074 (GRCm39) A99T possibly damaging Het
Myo15a T G 11: 60,369,669 (GRCm39) S810A possibly damaging Het
Neb A G 2: 52,153,669 (GRCm39) W2419R probably damaging Het
Nkpd1 A T 7: 19,257,900 (GRCm39) T560S possibly damaging Het
Or2n1c T C 17: 38,519,958 (GRCm39) M274T probably damaging Het
Or4b1b A T 2: 90,112,795 (GRCm39) S41R possibly damaging Het
Rasa3 A G 8: 13,627,411 (GRCm39) L697P probably damaging Het
Sptbn4 A G 7: 27,059,517 (GRCm39) Y2443H probably damaging Het
Steap2 A G 5: 5,725,845 (GRCm39) I393T probably damaging Het
Tbc1d12 T A 19: 38,825,614 (GRCm39) L155Q possibly damaging Het
Tnni3k A T 3: 154,492,422 (GRCm39) M816K probably benign Het
Ugt2a3 T C 5: 87,475,050 (GRCm39) D398G probably damaging Het
Vmn1r25 A T 6: 57,955,543 (GRCm39) S249T probably benign Het
Vmn2r17 C A 5: 109,575,104 (GRCm39) P137Q probably benign Het
Zbtb26 A G 2: 37,326,497 (GRCm39) S180P probably benign Het
Zmpste24 T C 4: 120,931,734 (GRCm39) E297G probably benign Het
Other mutations in Zfy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0149:Zfy1 UTSW Y 726,121 (GRCm39) missense possibly damaging 0.95
R0361:Zfy1 UTSW Y 726,121 (GRCm39) missense possibly damaging 0.95
R0529:Zfy1 UTSW Y 726,040 (GRCm39) missense probably damaging 1.00
R0837:Zfy1 UTSW Y 725,850 (GRCm39) nonsense probably null
R0945:Zfy1 UTSW Y 725,983 (GRCm39) missense probably damaging 0.98
R1163:Zfy1 UTSW Y 725,611 (GRCm39) missense probably damaging 0.98
R1394:Zfy1 UTSW Y 725,957 (GRCm39) missense possibly damaging 0.79
R1806:Zfy1 UTSW Y 725,620 (GRCm39) missense possibly damaging 0.88
R1928:Zfy1 UTSW Y 729,733 (GRCm39) missense unknown
R2374:Zfy1 UTSW Y 726,391 (GRCm39) missense probably damaging 0.99
R2889:Zfy1 UTSW Y 726,307 (GRCm39) missense possibly damaging 0.95
R2980:Zfy1 UTSW Y 739,054 (GRCm39) missense unknown
R3437:Zfy1 UTSW Y 726,357 (GRCm39) missense possibly damaging 0.82
R4454:Zfy1 UTSW Y 725,518 (GRCm39) missense possibly damaging 0.86
R4529:Zfy1 UTSW Y 726,511 (GRCm39) missense possibly damaging 0.93
R4656:Zfy1 UTSW Y 729,626 (GRCm39) missense unknown
R5049:Zfy1 UTSW Y 726,004 (GRCm39) missense possibly damaging 0.93
R5087:Zfy1 UTSW Y 732,964 (GRCm39) missense unknown
R5347:Zfy1 UTSW Y 725,950 (GRCm39) missense possibly damaging 0.90
R5428:Zfy1 UTSW Y 726,205 (GRCm39) missense possibly damaging 0.95
R5825:Zfy1 UTSW Y 726,531 (GRCm39) missense possibly damaging 0.85
R6256:Zfy1 UTSW Y 738,765 (GRCm39) missense unknown
R7065:Zfy1 UTSW Y 725,428 (GRCm39) missense probably benign 0.33
R7134:Zfy1 UTSW Y 725,788 (GRCm39) missense probably damaging 0.99
R7185:Zfy1 UTSW Y 725,464 (GRCm39) missense possibly damaging 0.53
R7358:Zfy1 UTSW Y 735,141 (GRCm39) missense unknown
R7513:Zfy1 UTSW Y 759,852 (GRCm39) missense unknown
R7747:Zfy1 UTSW Y 725,496 (GRCm39) nonsense probably null
R7900:Zfy1 UTSW Y 725,519 (GRCm39) missense possibly damaging 0.53
R8052:Zfy1 UTSW Y 726,004 (GRCm39) missense possibly damaging 0.93
R8377:Zfy1 UTSW Y 725,723 (GRCm39) missense possibly damaging 0.90
R8795:Zfy1 UTSW Y 738,945 (GRCm39) missense unknown
R8854:Zfy1 UTSW Y 726,501 (GRCm39) missense possibly damaging 0.71
R8936:Zfy1 UTSW Y 738,726 (GRCm39) missense unknown
R9098:Zfy1 UTSW Y 725,987 (GRCm39) missense possibly damaging 0.95
R9146:Zfy1 UTSW Y 726,033 (GRCm39) missense possibly damaging 0.95
R9209:Zfy1 UTSW Y 732,990 (GRCm39) missense unknown
R9310:Zfy1 UTSW Y 727,634 (GRCm39) missense unknown
R9726:Zfy1 UTSW Y 725,476 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- TGGGTGACGGAAACCTTTACC -3'
(R):5'- ACAAACTTTACGTGTCTATCCTTGC -3'

Sequencing Primer
(F):5'- GGTGACGGAAACCTTTACCACATTC -3'
(R):5'- ACGTGTCTATCCTTGCATGTTTTG -3'
Posted On 2014-11-11