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)
|
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
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 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
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 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
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 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
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 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
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 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
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 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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |