Incidental Mutation 'R7462:Zmynd11'
| ID |
578521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd11
|
| Ensembl Gene |
ENSMUSG00000021156 |
| Gene Name |
zinc finger, MYND domain containing 11 |
| Synonyms |
2210402G22Rik |
| MMRRC Submission |
045536-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.650)
|
| Stock # |
R7462 (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 A
at 9748720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 154
(N154Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000110638]
[ENSMUST00000128658]
[ENSMUST00000130151]
[ENSMUST00000144642]
[ENSMUST00000146059]
[ENSMUST00000152725]
[ENSMUST00000154994]
[ENSMUST00000157035]
[ENSMUST00000220996]
[ENSMUST00000222475]
[ENSMUST00000223421]
|
| AlphaFold |
Q8R5C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062658
AA Change: N100Y
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: N100Y
| 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 damaging
Transcript: ENSMUST00000110633
AA Change: N114Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: N114Y
| 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
AA Change: N154Y
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: N154Y
| 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
AA Change: N154Y
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: N154Y
| 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
AA Change: N154Y
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: N154Y
| 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
AA Change: N100Y
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: N100Y
| 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 |
possibly damaging
Transcript: ENSMUST00000110638
AA Change: N100Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: N100Y
| 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
AA Change: N100Y
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121574
Gene: ENSMUSG00000021156
AA Change: N100Y
| 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: ENSMUST00000130151
AA Change: N169Y
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: N169Y
| 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: ENSMUST00000140180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144642
AA Change: N154Y
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117375
Gene: ENSMUSG00000021156
AA Change: N154Y
| 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: ENSMUST00000146059
AA Change: N60Y
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122133
Gene: ENSMUSG00000021156
AA Change: N60Y
| 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
AA Change: N154Y
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118002
Gene: ENSMUSG00000021156
AA Change: N154Y
| 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
AA Change: N154Y
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: N154Y
| 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 |
probably benign
Transcript: ENSMUST00000222475
AA Change: N100Y
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223421
AA Change: N154Y
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.0759 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
G |
C |
3: 126,736,683 (GRCm39) |
T3067S |
unknown |
Het |
| Ankrd28 |
T |
C |
14: 31,500,886 (GRCm39) |
N35S |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,060 (GRCm39) |
S996T |
possibly damaging |
Het |
| Btbd7 |
T |
C |
12: 102,803,981 (GRCm39) |
E353G |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,494,764 (GRCm39) |
Y924F |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,628,621 (GRCm39) |
I362T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,253,462 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
T |
A |
8: 37,405,118 (GRCm39) |
T224S |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,273,916 (GRCm39) |
|
probably null |
Het |
| Dnajc1 |
A |
G |
2: 18,313,710 (GRCm39) |
F137S |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,836,722 (GRCm39) |
T24A |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,301,638 (GRCm39) |
E317G |
probably null |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,485 (GRCm39) |
L292P |
probably damaging |
Het |
| Gca |
G |
T |
2: 62,502,753 (GRCm39) |
D54Y |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,024,517 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,080,055 (GRCm39) |
|
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,447,241 (GRCm39) |
N351S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,383 (GRCm39) |
V303E |
probably damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,063 (GRCm39) |
W302L |
probably damaging |
Het |
| Igkv4-74 |
T |
A |
6: 69,162,100 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,476,673 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
A |
G |
7: 97,155,335 (GRCm39) |
D329G |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,650,073 (GRCm39) |
F249S |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,932,089 (GRCm39) |
E672G |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,974,083 (GRCm39) |
I359T |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,003,041 (GRCm39) |
E2030G |
|
Het |
| Macf1 |
T |
A |
4: 123,386,556 (GRCm39) |
K1114N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,892 (GRCm39) |
M701V |
possibly damaging |
Het |
| Mcemp1 |
A |
T |
8: 3,717,065 (GRCm39) |
M69L |
probably benign |
Het |
| Mfsd4b2 |
T |
A |
10: 39,797,877 (GRCm39) |
K159N |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,938,109 (GRCm39) |
D243E |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,568 (GRCm39) |
S873G |
unknown |
Het |
| Mug1 |
A |
T |
6: 121,852,399 (GRCm39) |
Q829L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,439 (GRCm39) |
V726E |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,271,826 (GRCm39) |
Q247R |
probably benign |
Het |
| Npbwr1 |
T |
C |
1: 5,987,151 (GRCm39) |
N121S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,296 (GRCm39) |
D171G |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,707 (GRCm39) |
D72V |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,379 (GRCm39) |
C240* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,409 (GRCm39) |
S726G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,167,232 (GRCm39) |
V847D |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ripor2 |
G |
A |
13: 24,880,290 (GRCm39) |
V385M |
unknown |
Het |
| Rufy1 |
C |
T |
11: 50,298,655 (GRCm39) |
V379M |
possibly damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,207 (GRCm39) |
K26R |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,809 (GRCm39) |
S234P |
probably benign |
Het |
| Sirt7 |
G |
A |
11: 120,511,618 (GRCm39) |
T225I |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 24,006,401 (GRCm39) |
T476S |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,351 (GRCm39) |
M331K |
probably benign |
Het |
| Spam1 |
T |
C |
6: 24,796,907 (GRCm39) |
I286T |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,002,793 (GRCm39) |
I214F |
possibly damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,226,643 (GRCm39) |
L427P |
probably damaging |
Het |
| Tpbg |
G |
A |
9: 85,726,903 (GRCm39) |
A291T |
possibly damaging |
Het |
| Zfp40 |
A |
G |
17: 23,397,362 (GRCm39) |
F45S |
possibly damaging |
Het |
| Zfp451 |
C |
T |
1: 33,816,094 (GRCm39) |
V619M |
probably damaging |
Het |
| Zim1 |
A |
G |
7: 6,680,811 (GRCm39) |
L284P |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
| Zscan12 |
A |
T |
13: 21,553,457 (GRCm39) |
H427L |
possibly damaging |
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 |
|
|
R6648:Zmynd11
|
UTSW |
13 |
9,763,057 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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'- GCAAAAGTCAAAGTTCATTTCAACAC -3'
(R):5'- CAGGCACTATGTCAAGTACAACAT -3'
Sequencing Primer
(F):5'- TCCAGTCTGGGCTACATATAGAGAC -3'
(R):5'- TTCAATTCCCATCTTTTTGAGGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation