Incidental Mutation 'V7583:Zmynd8'
ID |
152636 |
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)
|
Stock # |
V7583 ()
of strain
stinger
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
165626072-165740896 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 165654314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 724
(R724*)
|
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 null
Transcript: ENSMUST00000018050
AA Change: R729*
|
SMART Domains |
Protein: ENSMUSP00000018050 Gene: ENSMUSG00000039671 AA Change: R729*
Domain | Start | End | E-Value | Type |
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: R724*
|
SMART Domains |
Protein: ENSMUSP00000085436 Gene: ENSMUSG00000039671 AA Change: R724*
Domain | Start | End | E-Value | Type |
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: R704*
|
SMART Domains |
Protein: ENSMUSP00000096683 Gene: ENSMUSG00000039671 AA Change: R704*
Domain | Start | End | E-Value | Type |
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: ENSMUST00000109266
AA Change: R749*
|
SMART Domains |
Protein: ENSMUSP00000104889 Gene: ENSMUSG00000039671 AA Change: R749*
Domain | Start | End | E-Value | Type |
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: R733*
|
SMART Domains |
Protein: ENSMUSP00000104892 Gene: ENSMUSG00000039671 AA Change: R733*
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000170272
AA Change: R704*
|
SMART Domains |
Protein: ENSMUSP00000128680 Gene: ENSMUSG00000039671 AA Change: R704*
Domain | Start | End | E-Value | Type |
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: R724*
|
SMART Domains |
Protein: ENSMUSP00000136211 Gene: ENSMUSG00000039671 AA Change: R724*
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
Dcaf4 |
C |
A |
12: 83,584,475 (GRCm39) |
|
probably null |
Het |
Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
Golga4 |
A |
G |
9: 118,385,143 (GRCm39) |
E727G |
possibly damaging |
Het |
Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
Ing1 |
T |
C |
8: 11,611,934 (GRCm39) |
V124A |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
Mbd5 |
A |
G |
2: 49,206,422 (GRCm39) |
D1713G |
probably damaging |
Het |
Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,467,005 (GRCm39) |
V670A |
possibly damaging |
Het |
Nphp3 |
T |
C |
9: 103,913,093 (GRCm39) |
|
probably null |
Het |
Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
Sirpb1b |
A |
G |
3: 15,568,243 (GRCm39) |
V366A |
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,709 (GRCm39) |
Y844C |
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,064,552 (GRCm39) |
I528N |
probably damaging |
Het |
Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
|
Other mutations in Zmynd8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- TGTACCAATCTGGGACCCTGAGAC -3'
(R):5'- AGCGATTCCGAGGACTCCGAAAAG -3'
Sequencing Primer
(F):5'- CTGAGACATTCCCTGTCATAGTGG -3'
(R):5'- ACTCTCCTGTCAGCGAGAAG -3'
|
Posted On |
2014-01-29 |