Incidental Mutation 'R4932:Zmynd8'
ID 380609
Institutional Source Beutler Lab
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 # R4932 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 165626072-165740896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165676871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 249 (V249A)
Ref Sequence ENSEMBL: ENSMUSP00000120932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109262] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000153655] [ENSMUST00000177633] [ENSMUST00000170272]
AlphaFold A2A484
Predicted Effect probably benign
Transcript: ENSMUST00000018050
AA Change: V254A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: V254A

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 benign
Transcript: ENSMUST00000088113
AA Change: V249A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: V249A

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 benign
Transcript: ENSMUST00000099084
AA Change: V229A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: V229A

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 probably benign
Transcript: ENSMUST00000109262
AA Change: V229A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671
AA Change: V229A

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 benign
Transcript: ENSMUST00000109266
AA Change: V274A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: V274A

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 benign
Transcript: ENSMUST00000109269
AA Change: V258A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: V258A

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: V249A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: V249A

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 probably benign
Transcript: ENSMUST00000177633
AA Change: V249A

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: V249A

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 probably benign
Transcript: ENSMUST00000170272
AA Change: V229A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: V229A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152682
Meta Mutation Damage Score 0.2214 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,270,342 (GRCm39) V616E possibly damaging Het
Adam21 A G 12: 81,605,692 (GRCm39) V690A probably benign Het
Afg3l1 A T 8: 124,228,119 (GRCm39) T635S probably damaging Het
Ahcyl2 T A 6: 29,890,700 (GRCm39) M390K probably benign Het
Ank3 T A 10: 69,734,053 (GRCm39) probably null Het
Antkmt T G 17: 26,010,652 (GRCm39) probably null Het
Arhgef3 A T 14: 27,106,170 (GRCm39) K151N probably damaging Het
Ccr3 T G 9: 123,829,043 (GRCm39) F126C probably damaging Het
Ccser1 A G 6: 61,695,175 (GRCm39) D170G possibly damaging Het
Celsr2 T A 3: 108,310,074 (GRCm39) D1552V probably damaging Het
Cfap69 G A 5: 5,675,820 (GRCm39) L265F probably damaging Het
Chrna9 C T 5: 66,126,533 (GRCm39) R92* probably null Het
Cog3 A T 14: 75,970,394 (GRCm39) V341D probably damaging Het
Csmd1 C A 8: 16,073,779 (GRCm39) R2072L probably damaging Het
Dbf4 G T 5: 8,448,039 (GRCm39) H390Q probably benign Het
Dcaf4 T A 12: 83,579,078 (GRCm39) C166S possibly damaging Het
Dclk3 T A 9: 111,297,110 (GRCm39) L218Q possibly damaging Het
Dip2b T A 15: 100,069,603 (GRCm39) W643R probably damaging Het
Dip2c A G 13: 9,674,008 (GRCm39) K1091E probably damaging Het
Dis3 T A 14: 99,326,340 (GRCm39) H415L probably damaging Het
Dnah7a T A 1: 53,542,737 (GRCm39) I2478F possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Doc2a T C 7: 126,447,752 (GRCm39) probably benign Het
Dph5 A T 3: 115,693,456 (GRCm39) M125L probably benign Het
Dst A T 1: 34,267,764 (GRCm39) T5247S possibly damaging Het
Eno4 T G 19: 58,952,889 (GRCm39) V477G possibly damaging Het
Exosc8 T C 3: 54,636,711 (GRCm39) I207V possibly damaging Het
Fat4 T A 3: 39,061,352 (GRCm39) S4312T probably benign Het
Fgfr2 T C 7: 129,843,007 (GRCm39) D126G probably damaging Het
Fgfr4 A G 13: 55,315,983 (GRCm39) T799A unknown Het
Gcn1 A T 5: 115,730,203 (GRCm39) D839V probably benign Het
Gprin3 A G 6: 59,331,158 (GRCm39) V383A probably benign Het
Gpt T C 15: 76,583,040 (GRCm39) V361A probably benign Het
Hepacam G A 9: 37,293,060 (GRCm39) C217Y probably damaging Het
Hsp90aa1 A T 12: 110,660,151 (GRCm39) Y382N probably damaging Het
Htr2a T A 14: 74,879,462 (GRCm39) N30K probably benign Het
Jhy A T 9: 40,872,299 (GRCm39) M70K possibly damaging Het
Lrrc19 T C 4: 94,529,174 (GRCm39) Y36C probably damaging Het
Madcam1 C T 10: 79,501,447 (GRCm39) Q171* probably null Het
Mcm8 G A 2: 132,680,629 (GRCm39) M544I probably benign Het
Mdga1 C T 17: 30,076,580 (GRCm39) G64E probably damaging Het
Mmp3 A G 9: 7,446,994 (GRCm39) D58G probably benign Het
Ms4a10 T C 19: 10,942,132 (GRCm39) Y123C probably damaging Het
Ms4a4d T A 19: 11,535,296 (GRCm39) I198K probably benign Het
Mthfd1l A T 10: 3,930,241 (GRCm39) D112V probably benign Het
N4bp2l2 A C 5: 150,566,606 (GRCm39) S567R probably benign Het
Ndufaf2 A G 13: 108,295,010 (GRCm39) Y32H probably damaging Het
Nup153 T A 13: 46,866,213 (GRCm39) K182* probably null Het
Or4c100 A G 2: 88,356,079 (GRCm39) T51A probably benign Het
Or52p2 A G 7: 102,237,623 (GRCm39) F109S probably damaging Het
Or5p4 T A 7: 107,680,781 (GRCm39) V260E probably damaging Het
Otoa T C 7: 120,754,358 (GRCm39) S928P probably damaging Het
Oxct2a T C 4: 123,216,496 (GRCm39) D295G probably benign Het
P4ha2 C A 11: 54,015,846 (GRCm39) T411K probably benign Het
Plcg2 A T 8: 118,333,822 (GRCm39) Q865L probably benign Het
Prepl G T 17: 85,385,932 (GRCm39) T244K possibly damaging Het
Ptpro A T 6: 137,388,103 (GRCm39) K776* probably null Het
Rc3h2 T C 2: 37,279,844 (GRCm39) K462E possibly damaging Het
Scn10a A G 9: 119,516,940 (GRCm39) probably null Het
Serpinb1c A G 13: 33,066,147 (GRCm39) V266A probably damaging Het
Slc6a20b T A 9: 123,433,861 (GRCm39) N326Y probably damaging Het
Spcs2 C T 7: 99,508,038 (GRCm39) G16D possibly damaging Het
Spns3 T C 11: 72,390,321 (GRCm39) D441G possibly damaging Het
Srsf4 A G 4: 131,618,556 (GRCm39) D49G probably damaging Het
Tec A T 5: 72,917,736 (GRCm39) C494* probably null Het
Tecpr1 A T 5: 144,141,476 (GRCm39) Y798N probably damaging Het
Tex56 A T 13: 35,116,613 (GRCm39) T121S possibly damaging Het
Tmt1a T A 15: 100,202,987 (GRCm39) F87Y probably benign Het
Trim56 C T 5: 137,143,343 (GRCm39) E58K probably damaging Het
Ttn A T 2: 76,626,478 (GRCm39) D13146E probably damaging Het
Ube2q1 A T 3: 89,686,790 (GRCm39) K46* probably null Het
Ucn G T 5: 31,295,842 (GRCm39) T8K probably benign Het
Usp25 T C 16: 76,830,870 (GRCm39) probably null Het
Usp48 A T 4: 137,343,144 (GRCm39) Q430L probably benign Het
Usp48 A T 4: 137,343,145 (GRCm39) probably null Het
Vill A T 9: 118,890,579 (GRCm39) D164V probably damaging Het
Vmn2r91 T A 17: 18,356,751 (GRCm39) M806K possibly damaging Het
Wdfy4 T A 14: 32,750,970 (GRCm39) Y2256F probably damaging Het
Wsb1 A G 11: 79,141,826 (GRCm39) S64P probably damaging Het
Zc3h11a C A 1: 133,552,350 (GRCm39) V586F probably benign Het
Zc3h12d A G 10: 7,729,014 (GRCm39) D126G probably damaging Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp442 T A 2: 150,251,635 (GRCm39) H89L possibly damaging Het
Zfp82 T A 7: 29,756,312 (GRCm39) probably null 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
IGL02548:Zmynd8 APN 2 165,675,325 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TAGAGCTTCCCAGTCTCGTC -3'
(R):5'- TCTGCCTGCCCTGTAATACAAAAG -3'

Sequencing Primer
(F):5'- TCTCGTAAGTCCCCGGAGAG -3'
(R):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'
Posted On 2016-04-15