Incidental Mutation 'R1663:Zmynd8'
ID 186903
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 039699-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1663 (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 165649805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 779 (S779P)
Ref Sequence ENSEMBL: ENSMUSP00000104889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000170272] [ENSMUST00000177633]
AlphaFold A2A484
Predicted Effect probably benign
Transcript: ENSMUST00000018050
AA Change: S759P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671
AA Change: S759P

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: S754P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
AA Change: S754P

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: S734P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: S734P

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: ENSMUST00000109266
AA Change: S779P

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
AA Change: S779P

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: S763P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: S763P

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 benign
Transcript: ENSMUST00000170272
AA Change: S734P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
AA Change: S734P

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 benign
Transcript: ENSMUST00000177633
AA Change: S754P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
AA Change: S754P

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
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
Adam3 T A 8: 25,177,949 (GRCm39) T11S probably benign Het
Adgb T C 10: 10,215,419 (GRCm39) M1529V possibly damaging Het
Ankrd36 T A 11: 5,570,126 (GRCm39) D531E possibly damaging Het
Ankzf1 C T 1: 75,172,914 (GRCm39) P337S probably damaging Het
Apc A G 18: 34,401,378 (GRCm39) I55V probably damaging Het
Aplnr A G 2: 84,967,038 (GRCm39) D21G possibly damaging Het
Apol10b A T 15: 77,472,914 (GRCm39) F47I probably damaging Het
Arhgef5 G A 6: 43,253,899 (GRCm39) A1131T probably damaging Het
Arrb2 A T 11: 70,328,429 (GRCm39) Q83L probably damaging Het
Atf7ip A G 6: 136,580,322 (GRCm39) Q1082R possibly damaging Het
Atl2 A G 17: 80,172,140 (GRCm39) S28P probably damaging Het
Brd7 T C 8: 89,084,651 (GRCm39) K89E possibly damaging Het
Cc2d1b A G 4: 108,480,744 (GRCm39) T55A probably damaging Het
Ccdc18 A G 5: 108,363,956 (GRCm39) E1217G probably damaging Het
Cdc42ep4 A T 11: 113,620,277 (GRCm39) M38K probably damaging Het
Cldn14 A G 16: 93,716,166 (GRCm39) S227P probably damaging Het
Clspn T A 4: 126,459,768 (GRCm39) C332S probably benign Het
Col5a1 T C 2: 27,841,488 (GRCm39) S370P unknown Het
Comp T C 8: 70,826,250 (GRCm39) L10P possibly damaging Het
Dcc A T 18: 71,959,123 (GRCm39) N216K probably damaging Het
Dcstamp C T 15: 39,618,340 (GRCm39) Q250* probably null Het
Drd5 T C 5: 38,478,198 (GRCm39) F397S probably benign Het
Dst T C 1: 34,202,466 (GRCm39) S265P probably damaging Het
Dync2i1 T C 12: 116,193,230 (GRCm39) Q574R probably benign Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Eno3 T C 11: 70,553,100 (GRCm39) probably null Het
Fam13a G A 6: 58,931,357 (GRCm39) R408* probably null Het
Gipc2 T A 3: 151,799,801 (GRCm39) M310L probably benign Het
Gm14496 T C 2: 181,639,230 (GRCm39) V440A probably benign Het
Gzmg A T 14: 56,394,265 (GRCm39) C210S probably damaging Het
Helb G T 10: 119,941,338 (GRCm39) A450E probably damaging Het
Hepacam2 A T 6: 3,483,439 (GRCm39) I190N possibly damaging Het
Hk3 A T 13: 55,154,388 (GRCm39) S773T probably benign Het
Hnrnpc A G 14: 52,312,852 (GRCm39) S221P probably damaging Het
Ifna9 T C 4: 88,510,220 (GRCm39) T135A probably benign Het
Igfn1 C T 1: 135,896,046 (GRCm39) G1507R probably benign Het
Kank3 A G 17: 34,037,349 (GRCm39) T218A probably benign Het
Kcp G T 6: 29,498,964 (GRCm39) R337S possibly damaging Het
Krt74 A T 15: 101,665,109 (GRCm39) noncoding transcript Het
Lrp1 A T 10: 127,392,790 (GRCm39) D2758E probably damaging Het
Ly75 T C 2: 60,144,578 (GRCm39) E1295G probably damaging Het
Mccc1 C A 3: 36,033,082 (GRCm39) W354L probably damaging Het
Mmp1a C T 9: 7,465,657 (GRCm39) T198M probably benign Het
Mtmr2 C T 9: 13,714,797 (GRCm39) T519I probably damaging Het
Nbea A G 3: 55,553,407 (GRCm39) S2632P possibly damaging Het
Nbn T A 4: 15,970,903 (GRCm39) D295E probably benign Het
Ndufb8 T C 19: 44,538,820 (GRCm39) Y167C probably damaging Het
Nisch A G 14: 30,913,478 (GRCm39) probably benign Het
Notch3 C T 17: 32,375,093 (GRCm39) G407D probably damaging Het
Nucb1 A G 7: 45,148,288 (GRCm39) F175S probably damaging Het
Or1l8 T G 2: 36,817,346 (GRCm39) Y260S probably damaging Het
Or6c6c G A 10: 129,541,160 (GRCm39) V138M probably benign Het
Or7g12 T A 9: 18,900,006 (GRCm39) C241S probably damaging Het
Or8b44 T G 9: 38,410,868 (GRCm39) I301R unknown Het
Pip5k1c T C 10: 81,148,349 (GRCm39) V425A probably damaging Het
Pnisr T A 4: 21,873,857 (GRCm39) probably benign Het
Prkag1 A G 15: 98,713,776 (GRCm39) V18A probably damaging Het
Rad50 T C 11: 53,559,050 (GRCm39) N1063S probably benign Het
Rnf170 C T 8: 26,619,171 (GRCm39) H132Y probably damaging Het
Rnf213 A G 11: 119,328,498 (GRCm39) D1977G probably benign Het
Sema3a G A 5: 13,607,092 (GRCm39) probably null Het
Setx T A 2: 29,016,917 (GRCm39) C7S probably damaging Het
Slc23a2 A G 2: 131,907,384 (GRCm39) I417T probably damaging Het
Spink6 T G 18: 44,204,588 (GRCm39) F18C unknown Het
Sptbn1 T C 11: 30,070,783 (GRCm39) Q1538R possibly damaging Het
Strn3 A G 12: 51,699,609 (GRCm39) Y188H probably damaging Het
Tecpr1 C A 5: 144,134,762 (GRCm39) K1040N probably benign Het
Tll1 T A 8: 64,470,720 (GRCm39) Y901F probably benign Het
Tmem81 C T 1: 132,435,635 (GRCm39) A147V probably benign Het
Tnpo3 T C 6: 29,565,758 (GRCm39) D532G probably benign Het
Vmn2r19 T A 6: 123,313,411 (GRCm39) I827N probably benign Het
Wdr35 A G 12: 9,070,000 (GRCm39) K857R probably benign Het
Zfp110 A G 7: 12,582,569 (GRCm39) T406A probably benign Het
Zfp52 T C 17: 21,782,084 (GRCm39) L644P possibly damaging Het
Zfp605 G A 5: 110,275,451 (GRCm39) V190I probably benign Het
Zfp964 A G 8: 70,116,733 (GRCm39) probably null Het
Zswim5 T A 4: 116,844,092 (GRCm39) N1043K 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
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
Predicted Primers PCR Primer
(F):5'- ACTTGATGCGTTCCACACGACC -3'
(R):5'- TGCAGAGACCATGCTTGTCCTTG -3'

Sequencing Primer
(F):5'- AGCTGGGACAGTCTCCTTC -3'
(R):5'- AACTTGGCCTGCCATGTGAA -3'
Posted On 2014-05-09