Incidental Mutation 'IGL01311:Zmynd8'
ID 73686
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 # IGL01311
Quality Score
Status
Chromosome 2
Chromosomal Location 165626072-165740896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165647129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 880 (D880G)
Ref Sequence ENSEMBL: ENSMUSP00000136211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000170272] [ENSMUST00000177633]
AlphaFold A2A484
Predicted Effect probably damaging
Transcript: ENSMUST00000018050
AA Change: D885G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: D885G

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: D880G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: D880G

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: D912G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: D912G

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: ENSMUST00000109266
AA Change: D905G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: D905G

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: D941G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: D941G

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: ENSMUST00000152682
Predicted Effect probably damaging
Transcript: ENSMUST00000170272
AA Change: D860G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: D860G

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: D880G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: D880G

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A T 7: 101,037,343 (GRCm39) K457* probably null Het
Arhgef10 C A 8: 15,041,054 (GRCm39) probably null Het
Becn1 C T 11: 101,182,342 (GRCm39) G281S probably damaging Het
Borcs8 A G 8: 70,617,818 (GRCm39) S59G probably damaging Het
Brd10 C T 19: 29,731,420 (GRCm39) V531I probably benign Het
Capn5 C A 7: 97,811,130 (GRCm39) R53L probably damaging Het
Cdk5 C T 5: 24,624,593 (GRCm39) probably null Het
Cnksr1 A G 4: 133,957,777 (GRCm39) L434P probably damaging Het
Col22a1 C T 15: 71,845,486 (GRCm39) probably benign Het
Fn1 T C 1: 71,667,299 (GRCm39) D811G probably damaging Het
Haus3 G A 5: 34,324,988 (GRCm39) Q224* probably null Het
Jakmip2 A G 18: 43,690,389 (GRCm39) probably benign Het
Jam3 T G 9: 27,010,019 (GRCm39) T296P probably damaging Het
Kcnrg T C 14: 61,849,274 (GRCm39) L245P probably damaging Het
Kif1b A G 4: 149,305,059 (GRCm39) L909P probably damaging Het
Klrc3 T C 6: 129,618,375 (GRCm39) D136G probably damaging Het
Lrrc37 T A 11: 103,425,502 (GRCm39) R1450S unknown Het
Ltf T C 9: 110,860,080 (GRCm39) probably benign Het
Meig1 A T 2: 3,410,245 (GRCm39) V85D possibly damaging Het
Mrgprb2 T A 7: 48,201,746 (GRCm39) E326D probably benign Het
Nlrp2 T A 7: 5,322,238 (GRCm39) D65V possibly damaging Het
Or4c100 T C 2: 88,356,104 (GRCm39) F59S possibly damaging Het
Or52h7 T C 7: 104,214,036 (GRCm39) Y203H probably damaging Het
Padi2 G A 4: 140,644,948 (GRCm39) V61I probably benign Het
Pkd1l1 T C 11: 8,851,174 (GRCm39) S753G possibly damaging Het
Ppp4r3b T C 11: 29,144,591 (GRCm39) S314P probably benign Het
Serpina3i T C 12: 104,233,946 (GRCm39) S305P probably damaging Het
Slc16a4 G T 3: 107,199,821 (GRCm39) V23F possibly damaging Het
Slc25a34 G A 4: 141,348,747 (GRCm39) T239I possibly damaging Het
Srebf2 T C 15: 82,076,404 (GRCm39) probably benign Het
Tasor2 A G 13: 3,625,885 (GRCm39) V1355A possibly damaging Het
Tcf12 A T 9: 71,765,938 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,586,077 (GRCm39) E171G possibly damaging Het
Ubr4 A G 4: 139,206,356 (GRCm39) H4864R possibly damaging Het
Vmn2r108 A T 17: 20,682,939 (GRCm39) L755* probably null Het
Zfp292 C T 4: 34,807,961 (GRCm39) M1699I probably benign Het
Other mutations in Zmynd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01288:Zmynd8 APN 2 165,654,734 (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
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 2013-10-07