Incidental Mutation 'R7266:Zmynd8'
ID 564916
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 045389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 165626072-165740896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 165649492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 867 (Q867R)
Ref Sequence ENSEMBL: ENSMUSP00000104892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018050] [ENSMUST00000088113] [ENSMUST00000099084] [ENSMUST00000109266] [ENSMUST00000109269] [ENSMUST00000170272] [ENSMUST00000177633]
AlphaFold A2A484
Predicted Effect probably benign
Transcript: ENSMUST00000018050
SMART Domains Protein: ENSMUSP00000018050
Gene: ENSMUSG00000039671

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
SMART Domains Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671

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 possibly damaging
Transcript: ENSMUST00000099084
AA Change: Q838R

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: Q838R

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
SMART Domains Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671

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 possibly damaging
Transcript: ENSMUST00000109269
AA Change: Q867R

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: Q867R

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: ENSMUST00000170272
SMART Domains Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671

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
SMART Domains Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T A 8: 25,157,639 (GRCm39) I104F probably benign Het
Adgrg7 C T 16: 56,590,674 (GRCm39) V166I probably benign Het
Agfg1 G T 1: 82,859,966 (GRCm39) V278L probably benign Het
Alpk3 A G 7: 80,742,328 (GRCm39) E715G possibly damaging Het
Ap2m1 A G 16: 20,362,095 (GRCm39) Y401C probably damaging Het
Arhgef28 C T 13: 98,101,960 (GRCm39) S838N probably benign Het
Ash2l A T 8: 26,317,233 (GRCm39) Y373* probably null Het
Best2 C T 8: 85,734,393 (GRCm39) V442I probably benign Het
Col4a2 T C 8: 11,475,542 (GRCm39) probably null Het
Fat2 T A 11: 55,175,856 (GRCm39) D1619V probably damaging Het
Fer1l6 A T 15: 58,499,446 (GRCm39) N1272I probably benign Het
Gcc1 T A 6: 28,417,995 (GRCm39) *779C probably null Het
Gm12216 G A 11: 53,750,077 (GRCm39) probably benign Het
Grm2 C T 9: 106,524,370 (GRCm39) V311I Het
Immt T A 6: 71,851,689 (GRCm39) D683E probably benign Het
Itga8 T G 2: 12,237,712 (GRCm39) D336A probably damaging Het
Jhy T C 9: 40,872,453 (GRCm39) T19A probably benign Het
Kcnq2 T C 2: 180,776,885 (GRCm39) M1V probably null Het
Kctd17 A T 15: 78,317,214 (GRCm39) I117F probably damaging Het
Lrp6 T C 6: 134,484,364 (GRCm39) T420A probably damaging Het
Manba T C 3: 135,223,673 (GRCm39) S187P probably damaging Het
Mef2b A T 8: 70,616,938 (GRCm39) D13V probably damaging Het
Mical2 T C 7: 111,902,963 (GRCm39) F145L probably damaging Het
Mphosph8 T A 14: 56,922,497 (GRCm39) D551E possibly damaging Het
Mplkipl1 A G 19: 61,163,973 (GRCm39) V154A possibly damaging Het
Myo10 C G 15: 25,783,067 (GRCm39) R1170G probably damaging Het
Myo16 A C 8: 10,322,687 (GRCm39) Q39P unknown Het
Myo1f A G 17: 33,820,668 (GRCm39) E837G probably benign Het
Nell2 T A 15: 95,333,274 (GRCm39) I128F possibly damaging Het
Or1i2 A G 10: 78,448,448 (GRCm39) V9A probably benign Het
Pcdh15 A T 10: 74,215,222 (GRCm39) R659* probably null Het
Pcdhga1 A G 18: 37,973,028 (GRCm39) Q881R possibly damaging Het
Plekhm2 T G 4: 141,369,770 (GRCm39) E75A possibly damaging Het
Prc1 A G 7: 79,957,405 (GRCm39) K357E possibly damaging Het
Pxk T A 14: 8,146,220 (GRCm38) C377S probably benign Het
Ralgapa2 T C 2: 146,176,488 (GRCm39) E1696G probably damaging Het
Rbbp6 T A 7: 122,600,590 (GRCm39) S1532R unknown Het
Scn5a G T 9: 119,391,626 (GRCm39) A22E probably benign Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Siae T C 9: 37,534,309 (GRCm39) V115A probably damaging Het
Slc16a6 A G 11: 109,344,107 (GRCm39) C563R probably benign Het
Sntg1 A C 1: 8,752,243 (GRCm39) V58G possibly damaging Het
Snx11 C T 11: 96,663,985 (GRCm39) V36M probably damaging Het
Stk3 C A 15: 34,959,182 (GRCm39) S330I probably benign Het
Synpo A G 18: 60,762,631 (GRCm39) F92S probably benign Het
Tle1 A G 4: 72,057,924 (GRCm39) probably null Het
Tmem117 A G 15: 94,829,684 (GRCm39) D173G possibly damaging Het
Tmem217b C A 17: 29,738,347 (GRCm39) V140L probably benign Het
Tmprss5 T C 9: 49,025,841 (GRCm39) W338R probably benign Het
Tnfrsf19 T C 14: 61,212,147 (GRCm39) T168A possibly damaging Het
Trhde C T 10: 114,636,776 (GRCm39) G144S possibly damaging Het
Trim56 G T 5: 137,143,097 (GRCm39) Q140K probably damaging Het
Ttn C T 2: 76,562,918 (GRCm39) V28679M probably damaging Het
Ubxn8 G A 8: 34,113,231 (GRCm39) R208C probably damaging Het
Vmn2r72 G T 7: 85,387,482 (GRCm39) S694* probably null Het
Wdr38 T A 2: 38,890,276 (GRCm39) W137R probably damaging Het
Zdhhc6 G T 19: 55,292,932 (GRCm39) N271K probably damaging Het
Zfyve9 A G 4: 108,575,744 (GRCm39) S446P possibly damaging Het
Zswim3 T C 2: 164,662,402 (GRCm39) I294T probably benign 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
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
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'- GGTGACCATGACACATAGGG -3'
(R):5'- TATAGGTAAACCGCCACCGTC -3'

Sequencing Primer
(F):5'- TGACCATGACACATAGGGATGTAG -3'
(R):5'- GATGTCTACCGTCACAGTCACG -3'
Posted On 2019-06-26