Incidental Mutation 'R6648:Zmynd11'
ID |
524376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmynd11
|
Ensembl Gene |
ENSMUSG00000021156 |
Gene Name |
zinc finger, MYND domain containing 11 |
Synonyms |
2210402G22Rik |
MMRRC Submission |
044769-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.650)
|
Stock # |
R6648 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
9734869-9815366 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 9763057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 95
(S95R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000130151]
[ENSMUST00000110638]
[ENSMUST00000128658]
[ENSMUST00000144642]
[ENSMUST00000146039]
[ENSMUST00000146059]
[ENSMUST00000152725]
[ENSMUST00000154994]
[ENSMUST00000157035]
[ENSMUST00000220996]
[ENSMUST00000222358]
[ENSMUST00000222475]
[ENSMUST00000223421]
|
AlphaFold |
Q8R5C8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062658
|
SMART Domains |
Protein: ENSMUSP00000059767 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
BROMO
|
97 |
203 |
1.03e-18 |
SMART |
PWWP
|
224 |
275 |
1.96e-21 |
SMART |
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
low complexity region
|
351 |
362 |
N/A |
INTRINSIC |
coiled coil region
|
433 |
473 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110633
|
SMART Domains |
Protein: ENSMUSP00000106263 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
62 |
106 |
4.19e-7 |
SMART |
RING
|
66 |
105 |
8.31e-1 |
SMART |
BROMO
|
111 |
217 |
1.03e-18 |
SMART |
PWWP
|
238 |
289 |
1.96e-21 |
SMART |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
418 |
437 |
N/A |
INTRINSIC |
coiled coil region
|
503 |
543 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110634
|
SMART Domains |
Protein: ENSMUSP00000106264 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
102 |
146 |
4.19e-7 |
SMART |
RING
|
106 |
145 |
8.31e-1 |
SMART |
BROMO
|
151 |
257 |
1.03e-18 |
SMART |
PWWP
|
278 |
329 |
1.96e-21 |
SMART |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
low complexity region
|
405 |
416 |
N/A |
INTRINSIC |
coiled coil region
|
487 |
527 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110635
|
SMART Domains |
Protein: ENSMUSP00000106265 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
102 |
146 |
4.19e-7 |
SMART |
RING
|
106 |
145 |
8.31e-1 |
SMART |
BROMO
|
133 |
226 |
3.35e-4 |
SMART |
PWWP
|
247 |
298 |
1.96e-21 |
SMART |
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
coiled coil region
|
456 |
496 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110636
|
SMART Domains |
Protein: ENSMUSP00000106266 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
102 |
146 |
4.19e-7 |
SMART |
RING
|
106 |
145 |
8.31e-1 |
SMART |
BROMO
|
151 |
257 |
1.03e-18 |
SMART |
PWWP
|
278 |
329 |
1.96e-21 |
SMART |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
low complexity region
|
405 |
416 |
N/A |
INTRINSIC |
coiled coil region
|
487 |
527 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110637
|
SMART Domains |
Protein: ENSMUSP00000106267 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
BROMO
|
97 |
203 |
1.03e-18 |
SMART |
PWWP
|
224 |
275 |
1.96e-21 |
SMART |
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
low complexity region
|
351 |
362 |
N/A |
INTRINSIC |
coiled coil region
|
433 |
473 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130151
AA Change: S95R
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000118964 Gene: ENSMUSG00000021156 AA Change: S95R
Domain | Start | End | E-Value | Type |
PHD
|
117 |
161 |
4.19e-7 |
SMART |
RING
|
121 |
160 |
8.31e-1 |
SMART |
BROMO
|
166 |
272 |
1.03e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110638
|
SMART Domains |
Protein: ENSMUSP00000106268 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
BROMO
|
97 |
203 |
1.03e-18 |
SMART |
PWWP
|
224 |
275 |
1.96e-21 |
SMART |
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
low complexity region
|
404 |
423 |
N/A |
INTRINSIC |
coiled coil region
|
489 |
529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128658
|
SMART Domains |
Protein: ENSMUSP00000121574 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
Blast:BROMO
|
97 |
149 |
8e-32 |
BLAST |
PDB:4N4I|A
|
99 |
149 |
6e-29 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140180
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144642
|
SMART Domains |
Protein: ENSMUSP00000117375 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
102 |
146 |
4.19e-7 |
SMART |
RING
|
106 |
145 |
8.31e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146039
|
SMART Domains |
Protein: ENSMUSP00000116299 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
SCOP:d1fp0a1
|
55 |
87 |
2e-6 |
SMART |
PDB:4COS|A
|
59 |
87 |
6e-7 |
PDB |
Blast:PHD
|
62 |
96 |
4e-18 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146059
|
SMART Domains |
Protein: ENSMUSP00000122133 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
Blast:BROMO
|
38 |
81 |
1e-23 |
BLAST |
PDB:4N4I|A
|
59 |
89 |
2e-13 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152725
|
SMART Domains |
Protein: ENSMUSP00000118002 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
102 |
146 |
4.19e-7 |
SMART |
RING
|
106 |
145 |
8.31e-1 |
SMART |
Blast:BROMO
|
151 |
203 |
8e-31 |
BLAST |
PDB:4N4I|A
|
153 |
203 |
2e-27 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154994
|
SMART Domains |
Protein: ENSMUSP00000116635 Gene: ENSMUSG00000021156
Domain | Start | End | E-Value | Type |
PHD
|
102 |
146 |
4.19e-7 |
SMART |
RING
|
106 |
145 |
8.31e-1 |
SMART |
BROMO
|
151 |
249 |
1.59e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000157035
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222358
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222475
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223421
|
Meta Mutation Damage Score |
0.0848 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
98% (42/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was first identified by its ability to bind the adenovirus E1A protein. The protein localizes to the nucleus. It functions as a transcriptional repressor, and expression of E1A inhibits this repression. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
C |
17: 45,827,490 (GRCm39) |
Y511H |
probably damaging |
Het |
Arhgef38 |
A |
T |
3: 132,838,236 (GRCm39) |
I600N |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,323,395 (GRCm39) |
C1270S |
probably damaging |
Het |
Ccar2 |
T |
G |
14: 70,376,674 (GRCm39) |
D890A |
probably benign |
Het |
Cep76 |
A |
T |
18: 67,752,804 (GRCm39) |
V548D |
probably benign |
Het |
Chat |
T |
G |
14: 32,176,651 (GRCm39) |
Q41P |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,374,634 (GRCm39) |
N850I |
probably benign |
Het |
Dst |
A |
G |
1: 34,301,122 (GRCm39) |
I5879V |
possibly damaging |
Het |
Ece1 |
A |
G |
4: 137,648,470 (GRCm39) |
T92A |
probably benign |
Het |
Ecrg4 |
T |
A |
1: 43,777,851 (GRCm39) |
F87I |
probably damaging |
Het |
Fpgs |
G |
T |
2: 32,574,799 (GRCm39) |
C439* |
probably null |
Het |
H2-Q4 |
A |
T |
17: 35,601,981 (GRCm39) |
E281V |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,252,299 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
T |
C |
13: 95,818,719 (GRCm39) |
E679G |
probably benign |
Het |
Kif12 |
A |
T |
4: 63,089,554 (GRCm39) |
|
probably null |
Het |
Kif21b |
T |
C |
1: 136,080,135 (GRCm39) |
V557A |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,299,169 (GRCm39) |
S1955T |
probably damaging |
Het |
Mybpc1 |
G |
A |
10: 88,358,861 (GRCm39) |
T1110M |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,650,972 (GRCm39) |
H1625R |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,466,710 (GRCm39) |
T704M |
probably damaging |
Het |
Or1ad6 |
G |
A |
11: 50,860,000 (GRCm39) |
D52N |
probably damaging |
Het |
Or5a21 |
A |
T |
19: 12,311,130 (GRCm39) |
M30K |
probably benign |
Het |
Osbpl9 |
C |
A |
4: 108,948,876 (GRCm39) |
Q91H |
possibly damaging |
Het |
Pcsk5 |
A |
T |
19: 17,553,185 (GRCm39) |
L665Q |
probably damaging |
Het |
Pgm5 |
T |
C |
19: 24,838,996 (GRCm39) |
D53G |
probably benign |
Het |
Plcd4 |
A |
G |
1: 74,591,172 (GRCm39) |
D189G |
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,933,398 (GRCm39) |
Q676L |
probably benign |
Het |
Prss33 |
A |
G |
17: 24,053,676 (GRCm39) |
S134P |
probably benign |
Het |
Rln1 |
G |
T |
19: 29,309,521 (GRCm39) |
T86K |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,370,746 (GRCm39) |
A4785T |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,148,111 (GRCm39) |
C1274R |
probably benign |
Het |
Slc35a5 |
A |
T |
16: 44,964,280 (GRCm39) |
F318I |
probably damaging |
Het |
Slc41a3 |
T |
C |
6: 90,596,490 (GRCm39) |
F20L |
probably damaging |
Het |
Socs4 |
T |
A |
14: 47,527,633 (GRCm39) |
N189K |
probably benign |
Het |
Tiam2 |
A |
T |
17: 3,557,148 (GRCm39) |
E1196V |
probably damaging |
Het |
Tmc3 |
T |
A |
7: 83,246,751 (GRCm39) |
V164D |
probably damaging |
Het |
Trim46 |
T |
C |
3: 89,142,549 (GRCm39) |
E623G |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,180,030 (GRCm39) |
C3403* |
probably null |
Het |
Vmn1r194 |
A |
T |
13: 22,428,694 (GRCm39) |
T104S |
probably benign |
Het |
Vmn2r112 |
A |
T |
17: 22,837,467 (GRCm39) |
I643F |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,097,097 (GRCm39) |
I111V |
probably benign |
Het |
Zswim4 |
C |
A |
8: 84,957,543 (GRCm39) |
R175L |
probably benign |
Het |
|
Other mutations in Zmynd11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00573:Zmynd11
|
APN |
13 |
9,739,262 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00846:Zmynd11
|
APN |
13 |
9,770,808 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01606:Zmynd11
|
APN |
13 |
9,747,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03229:Zmynd11
|
APN |
13 |
9,739,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R1173:Zmynd11
|
UTSW |
13 |
9,739,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1413:Zmynd11
|
UTSW |
13 |
9,760,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1813:Zmynd11
|
UTSW |
13 |
9,739,616 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1872:Zmynd11
|
UTSW |
13 |
9,748,737 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2002:Zmynd11
|
UTSW |
13 |
9,739,514 (GRCm39) |
splice site |
probably null |
|
R2991:Zmynd11
|
UTSW |
13 |
9,745,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R4273:Zmynd11
|
UTSW |
13 |
9,747,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R4708:Zmynd11
|
UTSW |
13 |
9,745,789 (GRCm39) |
missense |
probably damaging |
0.97 |
R4718:Zmynd11
|
UTSW |
13 |
9,739,603 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5011:Zmynd11
|
UTSW |
13 |
9,739,479 (GRCm39) |
unclassified |
probably benign |
|
R5151:Zmynd11
|
UTSW |
13 |
9,740,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R5963:Zmynd11
|
UTSW |
13 |
9,745,931 (GRCm39) |
intron |
probably benign |
|
R7002:Zmynd11
|
UTSW |
13 |
9,744,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R7223:Zmynd11
|
UTSW |
13 |
9,760,198 (GRCm39) |
missense |
probably benign |
0.09 |
R7322:Zmynd11
|
UTSW |
13 |
9,740,445 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7462:Zmynd11
|
UTSW |
13 |
9,748,720 (GRCm39) |
missense |
probably benign |
0.29 |
R7500:Zmynd11
|
UTSW |
13 |
9,785,434 (GRCm39) |
missense |
probably benign |
0.00 |
R7737:Zmynd11
|
UTSW |
13 |
9,745,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R8181:Zmynd11
|
UTSW |
13 |
9,739,687 (GRCm39) |
missense |
probably benign |
0.08 |
R8331:Zmynd11
|
UTSW |
13 |
9,745,190 (GRCm39) |
missense |
probably benign |
0.21 |
R8853:Zmynd11
|
UTSW |
13 |
9,740,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R9115:Zmynd11
|
UTSW |
13 |
9,743,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R9184:Zmynd11
|
UTSW |
13 |
9,743,475 (GRCm39) |
missense |
probably benign |
0.01 |
R9747:Zmynd11
|
UTSW |
13 |
9,739,244 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGTTGATCTAAACAAGCAAGAG -3'
(R):5'- GCTCTTAAGTTTGCATGCTACTATC -3'
Sequencing Primer
(F):5'- ccaaaaccaaaaccaaacca -3'
(R):5'- CGTTGTCTGCCAAATAGT -3'
|
Posted On |
2018-06-22 |