Incidental Mutation 'IGL02548:Zmynd8'
ID 297933
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmynd8
Ensembl Gene ENSMUSG00000039671
Gene Name zinc finger, MYND-type containing 8
Synonyms ZMYND8, RACK7, 1110013E22Rik, 2010005I16Rik, Prkcbp1, 3632413B07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02548
Quality Score
Status
Chromosome 2
Chromosomal Location 165626072-165740896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165675325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 301 (V301A)
Ref Sequence ENSEMBL: ENSMUSP00000104889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109262] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000153655] [ENSMUST00000177633] [ENSMUST00000170272]
AlphaFold A2A484
Predicted Effect probably damaging
Transcript: ENSMUST00000018050
AA Change: V281A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: V281A

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 37 56 N/A INTRINSIC
PHD 90 131 2.23e-11 SMART
BROMO 147 254 1.77e-17 SMART
Pfam:PWWP 275 349 4e-12 PFAM
Pfam:DUF3544 412 624 9.8e-112 PFAM
internal_repeat_2 640 701 9.06e-5 PROSPERO
low complexity region 770 805 N/A INTRINSIC
low complexity region 853 868 N/A INTRINSIC
low complexity region 875 887 N/A INTRINSIC
coiled coil region 916 978 N/A INTRINSIC
Pfam:zf-MYND 988 1022 2.2e-7 PFAM
low complexity region 1055 1075 N/A INTRINSIC
low complexity region 1142 1156 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000088113
AA Change: V276A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: V276A

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
low complexity region 57 76 N/A INTRINSIC
PHD 85 126 2.23e-11 SMART
BROMO 142 249 1.77e-17 SMART
Pfam:PWWP 271 346 2.7e-11 PFAM
Pfam:DUF3544 408 617 2.1e-102 PFAM
internal_repeat_2 635 696 4.2e-5 PROSPERO
low complexity region 765 800 N/A INTRINSIC
low complexity region 848 863 N/A INTRINSIC
low complexity region 870 882 N/A INTRINSIC
coiled coil region 911 973 N/A INTRINSIC
low complexity region 1050 1070 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099084
AA Change: V256A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: V256A

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 37 56 N/A INTRINSIC
PHD 65 106 2.23e-11 SMART
BROMO 122 229 1.77e-17 SMART
Pfam:PWWP 250 324 4.1e-12 PFAM
Pfam:DUF3544 387 599 1e-111 PFAM
internal_repeat_2 615 676 4.95e-5 PROSPERO
low complexity region 745 780 N/A INTRINSIC
low complexity region 819 844 N/A INTRINSIC
low complexity region 880 895 N/A INTRINSIC
low complexity region 902 914 N/A INTRINSIC
coiled coil region 943 1005 N/A INTRINSIC
Pfam:zf-MYND 1015 1049 2.3e-7 PFAM
low complexity region 1082 1102 N/A INTRINSIC
low complexity region 1169 1183 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109262
AA Change: V256A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671
AA Change: V256A

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 37 56 N/A INTRINSIC
PHD 65 106 2.23e-11 SMART
BROMO 122 229 1.77e-17 SMART
Pfam:PWWP 250 324 1.2e-12 PFAM
Pfam:DUF3544 387 460 3.1e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109266
AA Change: V301A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: V301A

DomainStartEndE-ValueType
low complexity region 6 11 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
low complexity region 57 76 N/A INTRINSIC
PHD 110 151 2.23e-11 SMART
BROMO 167 274 1.77e-17 SMART
Pfam:PWWP 295 369 4.1e-12 PFAM
Pfam:DUF3544 432 644 1e-111 PFAM
internal_repeat_2 660 721 8.36e-5 PROSPERO
low complexity region 790 825 N/A INTRINSIC
low complexity region 873 888 N/A INTRINSIC
low complexity region 895 907 N/A INTRINSIC
coiled coil region 936 998 N/A INTRINSIC
Pfam:zf-MYND 1008 1042 2.3e-7 PFAM
low complexity region 1075 1095 N/A INTRINSIC
low complexity region 1162 1176 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109269
AA Change: V285A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: V285A

DomainStartEndE-ValueType
low complexity region 27 38 N/A INTRINSIC
low complexity region 41 60 N/A INTRINSIC
PHD 94 135 2.23e-11 SMART
BROMO 151 258 1.77e-17 SMART
Pfam:PWWP 280 355 6.6e-11 PFAM
Pfam:DUF3544 417 626 2.6e-102 PFAM
internal_repeat_2 644 705 6.15e-5 PROSPERO
low complexity region 774 809 N/A INTRINSIC
low complexity region 848 873 N/A INTRINSIC
low complexity region 909 924 N/A INTRINSIC
low complexity region 931 943 N/A INTRINSIC
coiled coil region 972 1034 N/A INTRINSIC
low complexity region 1111 1131 N/A INTRINSIC
low complexity region 1198 1212 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149369
Predicted Effect possibly damaging
Transcript: ENSMUST00000153655
AA Change: V276A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: V276A

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
low complexity region 57 76 N/A INTRINSIC
PHD 85 126 2.23e-11 SMART
BROMO 142 249 1.77e-17 SMART
Pfam:PWWP 270 344 3.5e-12 PFAM
Pfam:DUF3544 407 480 6.7e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177633
AA Change: V276A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: V276A

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
low complexity region 57 76 N/A INTRINSIC
PHD 85 126 2.23e-11 SMART
BROMO 142 249 1.77e-17 SMART
Pfam:PWWP 270 344 9.6e-12 PFAM
Pfam:DUF3544 407 619 1.8e-111 PFAM
internal_repeat_2 635 696 6.45e-5 PROSPERO
low complexity region 765 800 N/A INTRINSIC
low complexity region 848 863 N/A INTRINSIC
low complexity region 870 882 N/A INTRINSIC
coiled coil region 911 973 N/A INTRINSIC
Pfam:zf-MYND 983 1017 6.7e-7 PFAM
low complexity region 1050 1070 N/A INTRINSIC
low complexity region 1137 1151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152682
Predicted Effect probably damaging
Transcript: ENSMUST00000170272
AA Change: V256A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: V256A

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 37 56 N/A INTRINSIC
PHD 65 106 2.23e-11 SMART
BROMO 122 229 1.77e-17 SMART
Pfam:PWWP 250 324 1.1e-11 PFAM
Pfam:DUF3544 387 599 1.9e-111 PFAM
internal_repeat_2 615 676 7.92e-5 PROSPERO
low complexity region 745 780 N/A INTRINSIC
low complexity region 828 843 N/A INTRINSIC
low complexity region 850 862 N/A INTRINSIC
coiled coil region 891 953 N/A INTRINSIC
Pfam:zf-MYND 963 997 1.1e-6 PFAM
low complexity region 1030 1050 N/A INTRINSIC
low complexity region 1117 1131 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,654,686 (GRCm39) A545V probably damaging Het
Adam29 A T 8: 56,325,902 (GRCm39) L184* probably null Het
Ap1g1 C T 8: 110,576,254 (GRCm39) A432V probably damaging Het
Atrn C T 2: 130,814,202 (GRCm39) T716I probably damaging Het
Bahd1 C A 2: 118,747,526 (GRCm39) Q382K possibly damaging Het
Barhl2 A G 5: 106,603,391 (GRCm39) V256A probably benign Het
Camta2 A G 11: 70,561,511 (GRCm39) F1113L probably damaging Het
Cdh23 G T 10: 60,485,901 (GRCm39) T38K probably benign Het
Cmtm3 T C 8: 105,071,437 (GRCm39) L111P probably damaging Het
Col27a1 T C 4: 63,236,492 (GRCm39) probably benign Het
Cyp2c29 G A 19: 39,279,291 (GRCm39) G96D possibly damaging Het
Flt1 C A 5: 147,576,058 (GRCm39) R650L probably benign Het
Fpr1 T A 17: 18,096,915 (GRCm39) E358V probably benign Het
Ggnbp2 A T 11: 84,753,112 (GRCm39) N42K possibly damaging Het
Gldc T C 19: 30,077,299 (GRCm39) T958A probably benign Het
Gm3573 A G 14: 42,009,452 (GRCm39) probably null Het
Hspbp1 T C 7: 4,684,840 (GRCm39) probably benign Het
Jhy G T 9: 40,828,471 (GRCm39) Y478* probably null Het
Kiz A G 2: 146,712,690 (GRCm39) E118G probably damaging Het
Klhdc1 A G 12: 69,300,492 (GRCm39) Y144C probably benign Het
Lamc3 A T 2: 31,810,674 (GRCm39) Y848F probably benign Het
Mixl1 T C 1: 180,522,269 (GRCm39) E204G probably benign Het
Muc2 T A 7: 141,305,594 (GRCm39) C202S probably damaging Het
Nfatc1 T C 18: 80,741,113 (GRCm39) S282G probably damaging Het
Or2j6 T A 7: 139,980,575 (GRCm39) Y128F probably damaging Het
Or5b111 T C 19: 13,291,302 (GRCm39) M116V probably damaging Het
Or5k8 C A 16: 58,644,691 (GRCm39) C127F probably benign Het
Orc2 A T 1: 58,505,281 (GRCm39) probably benign Het
Pcdhb10 T C 18: 37,545,743 (GRCm39) I273T probably benign Het
Pdzph1 G A 17: 59,280,386 (GRCm39) T632I probably benign Het
Phf1 A G 17: 27,154,600 (GRCm39) Y225C probably damaging Het
Pramel17 T A 4: 101,692,770 (GRCm39) Y410F probably damaging Het
Prcp T C 7: 92,550,382 (GRCm39) F60L probably damaging Het
Psg21 C T 7: 18,388,961 (GRCm39) V44I possibly damaging Het
Ptgdr C T 14: 45,096,071 (GRCm39) V214M probably damaging Het
Pth1r G A 9: 110,556,748 (GRCm39) R181W probably damaging Het
Ralgapb A G 2: 158,286,585 (GRCm39) I343M probably damaging Het
Retreg1 C T 15: 25,895,204 (GRCm39) Q128* probably null Het
Rrbp1 T C 2: 143,791,679 (GRCm39) probably benign Het
Skint5 T A 4: 113,588,273 (GRCm39) M726L unknown Het
Slc6a18 T C 13: 73,818,114 (GRCm39) Y301C probably damaging Het
Slc8a3 G A 12: 81,250,930 (GRCm39) probably benign Het
Tacr3 C A 3: 134,535,232 (GRCm39) Q67K probably damaging Het
Tfrc A T 16: 32,443,640 (GRCm39) K534* probably null Het
Timp3 T A 10: 86,174,315 (GRCm39) M67K probably benign Het
Tmem120a C T 5: 135,765,628 (GRCm39) E179K probably damaging Het
Tomm40l G A 1: 171,049,216 (GRCm39) probably benign Het
Tubal3 A G 13: 3,980,554 (GRCm39) R89G probably benign Het
Wdr35 A T 12: 9,074,297 (GRCm39) N976I probably benign Het
Zfp292 T C 4: 34,805,416 (GRCm39) T2543A probably damaging Het
Zfp976 T A 7: 42,261,953 (GRCm39) H628L unknown Het
Other mutations in Zmynd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Zmynd8 APN 2 165,654,734 (GRCm39) missense probably damaging 1.00
IGL01311:Zmynd8 APN 2 165,647,129 (GRCm39) missense probably damaging 1.00
IGL02317:Zmynd8 APN 2 165,662,492 (GRCm39) missense possibly damaging 0.92
IGL02798:Zmynd8 APN 2 165,694,070 (GRCm39) critical splice acceptor site probably null
IGL02933:Zmynd8 APN 2 165,670,238 (GRCm39) missense possibly damaging 0.65
cain UTSW 2 165,699,973 (GRCm39) critical splice donor site probably null
F5770:Zmynd8 UTSW 2 165,654,314 (GRCm39) nonsense probably null
I1329:Zmynd8 UTSW 2 165,670,145 (GRCm39) missense probably damaging 1.00
P0031:Zmynd8 UTSW 2 165,662,618 (GRCm39) splice site probably benign
R0267:Zmynd8 UTSW 2 165,670,322 (GRCm39) missense probably damaging 1.00
R0608:Zmynd8 UTSW 2 165,629,078 (GRCm39) splice site probably null
R1663:Zmynd8 UTSW 2 165,649,805 (GRCm39) missense probably benign 0.11
R2212:Zmynd8 UTSW 2 165,657,371 (GRCm39) missense probably damaging 1.00
R3412:Zmynd8 UTSW 2 165,657,371 (GRCm39) missense probably damaging 1.00
R3413:Zmynd8 UTSW 2 165,657,371 (GRCm39) missense probably damaging 1.00
R3749:Zmynd8 UTSW 2 165,647,118 (GRCm39) missense probably damaging 1.00
R3820:Zmynd8 UTSW 2 165,657,381 (GRCm39) nonsense probably null
R3836:Zmynd8 UTSW 2 165,700,019 (GRCm39) missense probably benign 0.05
R3957:Zmynd8 UTSW 2 165,654,395 (GRCm39) missense probably damaging 0.99
R4379:Zmynd8 UTSW 2 165,649,858 (GRCm39) splice site probably null
R4526:Zmynd8 UTSW 2 165,649,527 (GRCm39) intron probably benign
R4739:Zmynd8 UTSW 2 165,647,249 (GRCm39) missense probably damaging 1.00
R4838:Zmynd8 UTSW 2 165,681,954 (GRCm39) nonsense probably null
R4932:Zmynd8 UTSW 2 165,676,871 (GRCm39) missense possibly damaging 0.90
R4933:Zmynd8 UTSW 2 165,676,871 (GRCm39) missense possibly damaging 0.90
R4997:Zmynd8 UTSW 2 165,634,736 (GRCm39) missense probably benign 0.01
R5652:Zmynd8 UTSW 2 165,649,618 (GRCm39) missense probably damaging 1.00
R5741:Zmynd8 UTSW 2 165,681,937 (GRCm39) missense probably damaging 1.00
R6008:Zmynd8 UTSW 2 165,684,707 (GRCm39) missense possibly damaging 0.77
R6242:Zmynd8 UTSW 2 165,740,867 (GRCm39) missense possibly damaging 0.91
R6332:Zmynd8 UTSW 2 165,680,772 (GRCm39) missense probably damaging 1.00
R6394:Zmynd8 UTSW 2 165,687,943 (GRCm39) nonsense probably null
R6772:Zmynd8 UTSW 2 165,649,521 (GRCm39) missense probably benign 0.35
R6970:Zmynd8 UTSW 2 165,717,670 (GRCm39) missense probably damaging 1.00
R6986:Zmynd8 UTSW 2 165,675,335 (GRCm39) missense probably damaging 1.00
R7229:Zmynd8 UTSW 2 165,699,973 (GRCm39) critical splice donor site probably null
R7266:Zmynd8 UTSW 2 165,649,492 (GRCm39) missense possibly damaging 0.49
R7296:Zmynd8 UTSW 2 165,681,929 (GRCm39) missense probably damaging 0.98
R7642:Zmynd8 UTSW 2 165,654,346 (GRCm39) missense probably damaging 1.00
R7818:Zmynd8 UTSW 2 165,684,751 (GRCm39) missense probably damaging 0.97
R7821:Zmynd8 UTSW 2 165,723,000 (GRCm39) intron probably benign
R8135:Zmynd8 UTSW 2 165,654,346 (GRCm39) missense probably damaging 1.00
R8828:Zmynd8 UTSW 2 165,654,466 (GRCm39) missense probably benign 0.00
R9128:Zmynd8 UTSW 2 165,700,058 (GRCm39) start codon destroyed probably null
R9200:Zmynd8 UTSW 2 165,682,005 (GRCm39) missense probably benign
R9345:Zmynd8 UTSW 2 165,654,668 (GRCm39) missense possibly damaging 0.85
R9478:Zmynd8 UTSW 2 165,649,569 (GRCm39) missense probably damaging 1.00
R9626:Zmynd8 UTSW 2 165,654,268 (GRCm39) critical splice donor site probably null
R9649:Zmynd8 UTSW 2 165,680,772 (GRCm39) missense probably damaging 1.00
R9759:Zmynd8 UTSW 2 165,680,746 (GRCm39) missense possibly damaging 0.89
V7580:Zmynd8 UTSW 2 165,654,314 (GRCm39) nonsense probably null
V7581:Zmynd8 UTSW 2 165,654,314 (GRCm39) nonsense probably null
V7583:Zmynd8 UTSW 2 165,654,314 (GRCm39) nonsense probably null
Z1088:Zmynd8 UTSW 2 165,670,091 (GRCm39) missense probably benign
Z1176:Zmynd8 UTSW 2 165,670,108 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16