Incidental Mutation 'R1806:Zfy1'
ID 203498
Institutional Source Beutler Lab
Gene Symbol Zfy1
Ensembl Gene ENSMUSG00000053211
Gene Name zinc finger protein 1, Y-linked
Synonyms Zfy-1
MMRRC Submission 039835-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # R1806 (G1)
Quality Score 222
Status Validated
Chromosome Y
Chromosomal Location 725207-797409 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 725620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 715 (H715L)
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: H715L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069364
Gene: ENSMUSG00000053211
AA Change: H715L

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: H715L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140600
Gene: ENSMUSG00000053211
AA Change: H715L

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: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 96% (77/80)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,571 (GRCm39) L348P probably damaging Het
Adamts15 C A 9: 30,816,111 (GRCm39) C616F probably damaging Het
Adarb1 T C 10: 77,158,099 (GRCm39) N116S probably damaging Het
Add2 C T 6: 86,095,639 (GRCm39) S437L probably damaging Het
Adra1d T A 2: 131,388,069 (GRCm39) R495S probably benign Het
Agk C T 6: 40,364,429 (GRCm39) T309I probably damaging Het
Aqr T C 2: 113,992,133 (GRCm39) Y81C probably damaging Het
Bak1 G A 17: 27,240,242 (GRCm39) Q142* probably null Het
Bckdha A G 7: 25,330,845 (GRCm39) V307A probably damaging Het
Camk2n2 C A 16: 20,438,948 (GRCm39) G72V probably benign Het
Cd276 A T 9: 58,434,845 (GRCm39) probably benign Het
Cd2ap G A 17: 43,149,649 (GRCm39) Q122* probably null Het
Cdan1 T A 2: 120,561,907 (GRCm39) probably benign Het
Cdh3 T C 8: 107,263,547 (GRCm39) S156P probably benign Het
Chil4 T A 3: 106,117,959 (GRCm39) probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Fcrlb T C 1: 170,735,096 (GRCm39) T344A probably benign Het
Fras1 T A 5: 96,861,829 (GRCm39) probably benign Het
Fras1 G T 5: 96,912,835 (GRCm39) V3380F possibly damaging Het
Galnt9 A G 5: 110,767,119 (GRCm39) D530G possibly damaging Het
Gja10 A T 4: 32,601,135 (GRCm39) S416R probably benign Het
Gm10549 T A 18: 33,603,841 (GRCm39) V108E unknown Het
Hook3 A T 8: 26,558,687 (GRCm39) L59Q probably damaging Het
Hpf1 T A 8: 61,353,154 (GRCm39) D178E probably benign Het
Hsd17b7 T C 1: 169,788,698 (GRCm39) N173S possibly damaging Het
Hsph1 A G 5: 149,553,454 (GRCm39) F236L probably damaging Het
Kcnk12 G T 17: 88,053,537 (GRCm39) T375K probably benign Het
Klra3 A T 6: 130,304,033 (GRCm39) S220T probably damaging Het
Lhx1 A T 11: 84,414,967 (GRCm39) L12Q probably damaging Het
Lnx1 A G 5: 74,766,710 (GRCm39) L468P probably damaging Het
Ltbp3 T A 19: 5,803,970 (GRCm39) C827* probably null Het
Mical1 C T 10: 41,354,210 (GRCm39) A53V probably damaging Het
Mmp10 A T 9: 7,506,502 (GRCm39) H326L probably benign Het
Mpl A T 4: 118,300,729 (GRCm39) M600K possibly damaging Het
Muc5b T A 7: 141,419,230 (GRCm39) D4004E possibly damaging Het
Myo5b A T 18: 74,710,680 (GRCm39) H98L possibly damaging Het
Nbeal1 A G 1: 60,323,251 (GRCm39) T2110A probably damaging Het
Nedd4l C A 18: 65,345,862 (GRCm39) R825S probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or4k35 A T 2: 111,100,622 (GRCm39) I30N possibly damaging Het
Or52e19 T A 7: 102,959,432 (GRCm39) L168Q probably damaging Het
Or8k41 A T 2: 86,313,483 (GRCm39) I201N probably damaging Het
Otog A T 7: 45,940,361 (GRCm39) probably null Het
Parp2 T A 14: 51,056,836 (GRCm39) L320H probably damaging Het
Poglut3 T C 9: 53,307,150 (GRCm39) Y365H probably damaging Het
Pola2 C T 19: 5,993,250 (GRCm39) probably null Het
Poln A T 5: 34,264,494 (GRCm39) probably benign Het
Pomt1 T A 2: 32,131,680 (GRCm39) V123E probably damaging Het
Prom2 T C 2: 127,374,802 (GRCm39) Y578C probably damaging Het
Prss23 T C 7: 89,159,599 (GRCm39) T157A probably damaging Het
Sdk1 T A 5: 141,598,950 (GRCm39) V205E probably damaging Het
Sdk1 A G 5: 142,147,681 (GRCm39) K1771R probably benign Het
Sidt1 A T 16: 44,102,234 (GRCm39) S309T possibly damaging Het
Sirpa T A 2: 129,457,432 (GRCm39) F169I probably damaging Het
Slc8a1 T C 17: 81,955,916 (GRCm39) N374S probably damaging Het
Sp110 C T 1: 85,523,831 (GRCm39) probably null Het
Stard9 A G 2: 120,509,934 (GRCm39) probably null Het
Synpr A G 14: 13,563,082 (GRCm38) N105S probably damaging Het
Tbc1d16 T C 11: 119,046,927 (GRCm39) Y440C probably damaging Het
Trabd A G 15: 88,969,824 (GRCm39) I313V possibly damaging Het
Trappc10 T C 10: 78,046,610 (GRCm39) R430G probably damaging Het
Trim50 A G 5: 135,387,743 (GRCm39) E145G probably benign Het
Uba2 A T 7: 33,862,624 (GRCm39) F105I probably damaging Het
Uba3 A G 6: 97,176,230 (GRCm39) V92A possibly damaging Het
Uhmk1 T C 1: 170,038,628 (GRCm39) K153R probably damaging Het
Vmn2r3 T C 3: 64,194,810 (GRCm39) K8R possibly damaging Het
Vmn2r3 T A 3: 64,182,893 (GRCm39) M269L probably benign Het
Xpot G T 10: 121,443,543 (GRCm39) probably benign Het
Zfp128 A G 7: 12,624,949 (GRCm39) Y439C probably benign Het
Zmym1 A C 4: 126,941,872 (GRCm39) L839V probably damaging 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
R1928:Zfy1 UTSW Y 729,733 (GRCm39) missense unknown
R2374:Zfy1 UTSW Y 726,392 (GRCm39) missense possibly damaging 0.77
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'- GGGCAGGCCAACTTTATGATG -3'
(R):5'- TCATAGGCCTTCAGAACTCAAGAAG -3'

Sequencing Primer
(F):5'- GGCCAACTTTATGATGTCGCATTATG -3'
(R):5'- CCTTCAGAACTCAAGAAGCATGTGG -3'
Posted On 2014-06-23