Incidental Mutation 'R6394:Zmynd8'
ID 515921
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
MMRRC Submission 044543-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 165626072-165740896 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 165687943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 126 (E126*)
Ref Sequence ENSEMBL: ENSMUSP00000136211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109262] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000136842] [ENSMUST00000153655] [ENSMUST00000170272] [ENSMUST00000177633]
AlphaFold A2A484
Predicted Effect probably null
Transcript: ENSMUST00000018050
AA Change: E131*
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: E131*

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 null
Transcript: ENSMUST00000088113
AA Change: E126*
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: E126*

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 null
Transcript: ENSMUST00000099084
AA Change: E106*
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: E106*

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 null
Transcript: ENSMUST00000109262
AA Change: E106*
SMART Domains Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671
AA Change: E106*

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 null
Transcript: ENSMUST00000109266
AA Change: E151*
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: E151*

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 null
Transcript: ENSMUST00000109269
AA Change: E135*
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: E135*

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 probably null
Transcript: ENSMUST00000136842
AA Change: E137*
SMART Domains Protein: ENSMUSP00000120631
Gene: ENSMUSG00000039671
AA Change: E137*

DomainStartEndE-ValueType
low complexity region 19 30 N/A INTRINSIC
low complexity region 54 65 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
PHD 96 137 2.23e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000153655
AA Change: E126*
SMART Domains Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: E126*

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 null
Transcript: ENSMUST00000170272
AA Change: E106*
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: E106*

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 probably null
Transcript: ENSMUST00000177633
AA Change: E126*
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: E126*

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 noncoding transcript
Transcript: ENSMUST00000149369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139907
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,760,029 (GRCm39) probably null Het
Alpi T A 1: 87,028,428 (GRCm39) Y154F possibly damaging Het
Als2 A T 1: 59,206,356 (GRCm39) F1635I probably damaging Het
Anxa1 C T 19: 20,361,213 (GRCm39) V60M probably damaging Het
Atp10b A G 11: 43,116,464 (GRCm39) Y937C probably damaging Het
Brd4 C A 17: 32,443,121 (GRCm39) E167* probably null Het
Cacna1h G A 17: 25,606,455 (GRCm39) T1048I probably benign Het
Ccdc113 A G 8: 96,283,820 (GRCm39) D298G probably benign Het
Cfap100 T A 6: 90,394,605 (GRCm39) N74I possibly damaging Het
Chd8 A T 14: 52,440,042 (GRCm39) H4Q possibly damaging Het
Clcn1 A G 6: 42,284,524 (GRCm39) T621A possibly damaging Het
Clcn1 A G 6: 42,290,172 (GRCm39) T843A possibly damaging Het
Clcn3 C T 8: 61,394,325 (GRCm39) R68Q probably damaging Het
Dcaf13 T A 15: 39,007,132 (GRCm39) N355K probably benign Het
Dnah6 A T 6: 73,132,401 (GRCm39) C1100* probably null Het
Dync2h1 A T 9: 7,168,331 (GRCm39) V428E probably damaging Het
E230025N22Rik T C 18: 36,819,839 (GRCm39) E317G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evc2 C A 5: 37,535,619 (GRCm39) D431E probably damaging Het
Gcm2 T G 13: 41,263,373 (GRCm39) T20P probably damaging Het
Gdf9 A G 11: 53,327,524 (GRCm39) Y160C probably damaging Het
Gm8220 A G 14: 44,523,134 (GRCm39) probably benign Het
Gpalpp1 A T 14: 76,344,852 (GRCm39) S44T possibly damaging Het
Grip2 T C 6: 91,764,182 (GRCm39) Y134C probably damaging Het
Hephl1 A G 9: 14,985,397 (GRCm39) F753S probably benign Het
Herc1 A G 9: 66,302,341 (GRCm39) T727A probably damaging Het
Herc2 A G 7: 55,865,729 (GRCm39) E4232G probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Itga11 T A 9: 62,642,548 (GRCm39) probably null Het
Jrkl A C 9: 13,245,495 (GRCm39) Y55* probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kif18b A G 11: 102,805,236 (GRCm39) V303A probably damaging Het
Klhl29 A T 12: 5,144,830 (GRCm39) C423* probably null Het
Klhl29 T C 12: 5,187,720 (GRCm39) S215G probably benign Het
Lamp5 A G 2: 135,902,929 (GRCm39) D216G possibly damaging Het
Leo1 T A 9: 75,352,752 (GRCm39) D98E probably benign Het
Map3k3 T C 11: 106,039,709 (GRCm39) V283A probably benign Het
Med12l A G 3: 59,142,508 (GRCm39) K902E probably damaging Het
Mmp1b C A 9: 7,386,316 (GRCm39) D202Y probably benign Het
Muc21 A T 17: 35,931,058 (GRCm39) probably benign Het
Onecut3 A G 10: 80,331,847 (GRCm39) I336V probably damaging Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or10g9 T C 9: 39,912,001 (GRCm39) Q174R probably benign Het
Or10h1 G A 17: 33,418,487 (GRCm39) G155D probably damaging Het
Or4c11b C T 2: 88,625,296 (GRCm39) T190I probably benign Het
Or56b1 T A 7: 104,284,909 (GRCm39) N9K possibly damaging Het
Or56b1 T C 7: 104,285,234 (GRCm39) S118P possibly damaging Het
Or5p64 C T 7: 107,854,970 (GRCm39) R125H possibly damaging Het
Or6c69 G T 10: 129,747,789 (GRCm39) D119E probably damaging Het
Osbpl6 T C 2: 76,386,298 (GRCm39) V207A probably benign Het
Pde3a A T 6: 141,433,237 (GRCm39) H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phyh A G 2: 4,940,814 (GRCm39) D238G probably benign Het
Pnliprp2 T A 19: 58,750,030 (GRCm39) N92K probably benign Het
Pole3 T C 4: 62,442,263 (GRCm39) probably benign Het
Ppm1d T C 11: 85,230,498 (GRCm39) V372A probably benign Het
Prpf40a A T 2: 53,034,890 (GRCm39) I766N probably damaging Het
Prr5 T A 15: 84,583,925 (GRCm39) V175E probably damaging Het
Prss59 A T 6: 40,898,726 (GRCm39) L174* probably null Het
Ptprq T A 10: 107,478,804 (GRCm39) K1280* probably null Het
Rbp2 T A 9: 98,389,873 (GRCm39) V95E possibly damaging Het
Rictor T C 15: 6,798,790 (GRCm39) F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn10a T A 9: 119,490,386 (GRCm39) I519F probably benign Het
Setd5 T G 6: 113,092,505 (GRCm39) V295G probably damaging Het
Shcbp1 A T 8: 4,786,176 (GRCm39) M642K probably damaging Het
Slc13a3 C T 2: 165,276,017 (GRCm39) G243E probably damaging Het
Smg9 T C 7: 24,121,732 (GRCm39) Y498H probably damaging Het
Sox5 T C 6: 143,987,039 (GRCm39) D175G probably damaging Het
Stard7 A G 2: 127,126,161 (GRCm39) D71G probably damaging Het
Stxbp5 A T 10: 9,774,975 (GRCm39) Y59* probably null Het
Supt6 G A 11: 78,121,891 (GRCm39) R254C probably damaging Het
Syne2 C T 12: 76,037,269 (GRCm39) T3817I probably benign Het
Tas2r124 T A 6: 132,732,039 (GRCm39) I116N probably damaging Het
Trim9 T A 12: 70,301,987 (GRCm39) E550D possibly damaging Het
Vmn2r50 A G 7: 9,774,253 (GRCm39) S548P probably damaging Het
Zswim9 A T 7: 12,994,889 (GRCm39) S422R probably damaging 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
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
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'- TGTCTTTCCAAGAGCTGCCC -3'
(R):5'- GTCCGTTTTACTATATGAAGCAGCC -3'

Sequencing Primer
(F):5'- TTCCAAGAGCTGCCCCACTG -3'
(R):5'- TTTACTATATGAAGCAGCCACTCAC -3'
Posted On 2018-05-04