Incidental Mutation 'R3412:Zmynd8'
ID |
267755 |
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 |
040630-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3412 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
165626072-165740896 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 165657371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 533
(M533K)
|
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 damaging
Transcript: ENSMUST00000018050
AA Change: M529K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000018050 Gene: ENSMUSG00000039671 AA Change: M529K
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: M524K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000085436 Gene: ENSMUSG00000039671 AA Change: M524K
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: M504K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096683 Gene: ENSMUSG00000039671 AA Change: M504K
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: M549K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104889 Gene: ENSMUSG00000039671 AA Change: M549K
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: M533K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000104892 Gene: ENSMUSG00000039671 AA Change: M533K
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: M504K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128680 Gene: ENSMUSG00000039671 AA Change: M504K
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: M524K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000136211 Gene: ENSMUSG00000039671 AA Change: M524K
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 |
0.1056 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
T |
C |
13: 8,802,654 (GRCm39) |
F643S |
probably damaging |
Het |
Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,724 (GRCm39) |
I492V |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,415,545 (GRCm39) |
|
probably benign |
Het |
Duxf4 |
G |
A |
10: 58,072,175 (GRCm39) |
T13I |
possibly damaging |
Het |
Esp24 |
T |
A |
17: 39,349,207 (GRCm39) |
I11N |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,242,910 (GRCm39) |
E41G |
probably damaging |
Het |
Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
Gria4 |
T |
A |
9: 4,513,278 (GRCm39) |
D277V |
probably benign |
Het |
Il18r1 |
A |
T |
1: 40,530,227 (GRCm39) |
D318V |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
Krt90 |
T |
A |
15: 101,469,028 (GRCm39) |
L171F |
probably damaging |
Het |
Mthfd1 |
A |
G |
12: 76,350,523 (GRCm39) |
|
probably null |
Het |
Or51f5 |
T |
C |
7: 102,423,962 (GRCm39) |
L77P |
possibly damaging |
Het |
Or51q1 |
T |
C |
7: 103,628,609 (GRCm39) |
L76P |
probably damaging |
Het |
Or5an1c |
T |
C |
19: 12,218,954 (GRCm39) |
I24V |
probably benign |
Het |
Or6c1b |
A |
T |
10: 129,273,176 (GRCm39) |
D165V |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
Prss43 |
G |
C |
9: 110,658,532 (GRCm39) |
Q277H |
probably damaging |
Het |
Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,810,351 (GRCm39) |
D10G |
probably benign |
Het |
Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,714,146 (GRCm39) |
D1108G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,336,724 (GRCm39) |
T2369A |
probably benign |
Het |
Taok2 |
T |
C |
7: 126,470,030 (GRCm39) |
I933V |
possibly damaging |
Het |
Tex9 |
C |
A |
9: 72,385,040 (GRCm39) |
Q265H |
possibly damaging |
Het |
Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,004,479 (GRCm39) |
|
probably benign |
Het |
Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
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 |
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 |
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'- TGCATCTCCAGAGACTAGCAC -3'
(R):5'- AGCAGCTGGGATAAGCATTTTC -3'
Sequencing Primer
(F):5'- CCTAGCTGTGCTTTGCAA -3'
(R):5'- GCAGCTGGGATAAGCATTTTCTATAC -3'
|
Posted On |
2015-02-18 |