Incidental Mutation 'R6772:Zmynd8'
| ID |
532193 |
| 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 |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165626072-165740896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 165649521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 857
(Q857H)
|
| 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
| 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 benign
Transcript: ENSMUST00000088113
|
| SMART Domains |
Protein: ENSMUSP00000085436
Gene: ENSMUSG00000039671
| 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 benign
Transcript: ENSMUST00000099084
AA Change: Q828H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000096683
Gene: ENSMUSG00000039671
AA Change: Q828H
| 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 benign
Transcript: ENSMUST00000109266
|
| SMART Domains |
Protein: ENSMUSP00000104889
Gene: ENSMUSG00000039671
| 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 benign
Transcript: ENSMUST00000109269
AA Change: Q857H
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104892
Gene: ENSMUSG00000039671
AA Change: Q857H
| 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 |
probably benign
Transcript: ENSMUST00000170272
|
| SMART Domains |
Protein: ENSMUSP00000128680
Gene: ENSMUSG00000039671
| 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 benign
Transcript: ENSMUST00000177633
|
| SMART Domains |
Protein: ENSMUSP00000136211
Gene: ENSMUSG00000039671
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| 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 |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,958,972 (GRCm39) |
I27F |
probably damaging |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
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 |
|
|
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'- GGTGACCATGACACATAGGG -3'
(R):5'- TATAGGTAAACCGCCACCGTC -3'
Sequencing Primer
(F):5'- TGACCATGACACATAGGGATGTAG -3'
(R):5'- GATGTCTACCGTCACAGTCACG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation