Incidental Mutation 'R5741:Zmynd8'
ID 444774
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 # R5741 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 165626072-165740896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165681937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 189 (D189G)
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 damaging
Transcript: ENSMUST00000018050
AA Change: D194G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: D194G

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: D189G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: D189G

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: D169G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: D169G

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 damaging
Transcript: ENSMUST00000109262
AA Change: D169G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104885
Gene: ENSMUSG00000039671
AA Change: D169G

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: D214G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: D214G

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: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: D198G

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 benign
Transcript: ENSMUST00000136842
SMART Domains Protein: ENSMUSP00000120631
Gene: ENSMUSG00000039671

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 noncoding transcript
Transcript: ENSMUST00000152682
Predicted Effect probably damaging
Transcript: ENSMUST00000153655
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120932
Gene: ENSMUSG00000039671
AA Change: D189G

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 damaging
Transcript: ENSMUST00000170272
AA Change: D169G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: D169G

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 damaging
Transcript: ENSMUST00000177633
AA Change: D189G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: D189G

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: ENSMUST00000149369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139907
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T G 11: 106,919,315 (GRCm39) F220C probably damaging Het
Acox3 C T 5: 35,765,668 (GRCm39) H140Y probably benign Het
Ano3 A T 2: 110,488,618 (GRCm39) I938K probably benign Het
Ap3m1 A C 14: 21,095,788 (GRCm39) I14S possibly damaging Het
Arg1 T C 10: 24,793,897 (GRCm39) T127A probably benign Het
Asah2 A G 19: 31,986,015 (GRCm39) Y552H probably damaging Het
Cfap97d2 A T 8: 13,784,835 (GRCm39) Q32L possibly damaging Het
Chst12 A G 5: 140,509,688 (GRCm39) N105S probably benign Het
Cped1 G A 6: 22,123,620 (GRCm39) V458I probably benign Het
Cyld T G 8: 89,471,474 (GRCm39) I786S probably damaging Het
Cyp2j8 C T 4: 96,332,880 (GRCm39) V489I probably benign Het
Dlgap4 T C 2: 156,552,968 (GRCm39) Y462H probably damaging Het
Dnah5 C A 15: 28,246,513 (GRCm39) A617D probably benign Het
Erc2 T A 14: 28,024,826 (GRCm39) probably null Het
Fancm A G 12: 65,148,389 (GRCm39) N668S probably benign Het
Gm5592 A G 7: 40,938,625 (GRCm39) I636V probably benign Het
Gtf2h2 A T 13: 100,617,066 (GRCm39) C247S probably benign Het
Hyal5 T A 6: 24,876,494 (GRCm39) H122Q probably damaging Het
Ints10 G A 8: 69,257,574 (GRCm39) R258K probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrguk T A 6: 34,025,802 (GRCm39) D199E probably damaging Het
Lyst A G 13: 13,808,615 (GRCm39) D95G probably benign Het
Map2k1 A T 9: 64,121,883 (GRCm39) L30Q possibly damaging Het
Nell1 G A 7: 50,210,638 (GRCm39) probably null Het
Nfatc3 T A 8: 106,805,698 (GRCm39) I181N probably damaging Het
Nipbl T C 15: 8,354,133 (GRCm39) K1668R possibly damaging Het
Or5b113 A G 19: 13,342,847 (GRCm39) N285S probably damaging Het
Or7e170 A G 9: 19,794,857 (GRCm39) V248A possibly damaging Het
Or8d2 T A 9: 38,759,899 (GRCm39) L163* probably null Het
Otud7b C T 3: 96,051,615 (GRCm39) T189I probably damaging Het
Pkia A T 3: 7,507,105 (GRCm39) E62D probably benign Het
Plcb3 G A 19: 6,931,790 (GRCm39) Q1154* probably null Het
Pole4 T C 6: 82,628,447 (GRCm39) E105G probably damaging Het
Ppp1r3a A G 6: 14,719,882 (GRCm39) V344A probably damaging Het
Ptpn21 A T 12: 98,645,548 (GRCm39) L1130Q probably damaging Het
Rapgef5 A G 12: 117,719,764 (GRCm39) D564G probably damaging Het
Samhd1 C T 2: 156,954,751 (GRCm39) R387H probably benign Het
Spag1 A G 15: 36,183,849 (GRCm39) K65E possibly damaging Het
Spata31d1d A T 13: 59,876,500 (GRCm39) V345D possibly damaging Het
Spin1 G A 13: 51,303,171 (GRCm39) V255I possibly damaging Het
Tmem171 A G 13: 98,828,559 (GRCm39) V197A probably benign Het
Tmigd1 T C 11: 76,797,916 (GRCm39) V86A possibly damaging Het
Ttn T C 2: 76,542,417 (GRCm39) D31777G probably damaging Het
Tymp T A 15: 89,260,639 (GRCm39) M60L probably benign Het
Ugdh T C 5: 65,584,866 (GRCm39) T19A probably damaging Het
Vmn1r234 G T 17: 21,449,731 (GRCm39) C215F probably benign Het
Wnt5b T C 6: 119,410,690 (GRCm39) D250G probably damaging Het
Xrn1 T A 9: 95,927,604 (GRCm39) C1463S probably benign Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly 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
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'- GAACACCGCTTAGGATTTCAAC -3'
(R):5'- CTGGACCATGAACATGTCTGC -3'

Sequencing Primer
(F):5'- TTAGGATTTCAACATCCCCTGAGACG -3'
(R):5'- GACCATGAACATGTCTGCTTCTCAG -3'
Posted On 2016-11-21