Incidental Mutation 'IGL01606:Zmynd11'
| ID |
93419 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zmynd11
|
| Ensembl Gene |
ENSMUSG00000021156 |
| Gene Name |
zinc finger, MYND domain containing 11 |
| Synonyms |
2210402G22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.650)
|
| Stock # |
IGL01606
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
9734869-9815366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9747724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 149
(R149W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000110638]
[ENSMUST00000154994]
[ENSMUST00000157035]
[ENSMUST00000152725]
[ENSMUST00000130151]
[ENSMUST00000128658]
[ENSMUST00000220996]
[ENSMUST00000222475]
[ENSMUST00000223421]
[ENSMUST00000146059]
[ENSMUST00000144642]
|
| AlphaFold |
Q8R5C8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062658
AA Change: R135W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: R135W
| 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: R149W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: R149W
| 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 damaging
Transcript: ENSMUST00000110634
AA Change: R189W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: R189W
| 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 damaging
Transcript: ENSMUST00000110636
AA Change: R189W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: R189W
| 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 damaging
Transcript: ENSMUST00000110637
AA Change: R135W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: R135W
| 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: ENSMUST00000110638
AA Change: R135W
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: R135W
| 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 damaging
Transcript: ENSMUST00000154994
AA Change: R189W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: R189W
| 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 damaging
Transcript: ENSMUST00000152725
AA Change: R189W
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118002
Gene: ENSMUSG00000021156
AA Change: R189W
| 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 damaging
Transcript: ENSMUST00000130151
AA Change: R204W
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: R204W
| 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 damaging
Transcript: ENSMUST00000128658
AA Change: R135W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121574
Gene: ENSMUSG00000021156
AA Change: R135W
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BROMO
|
97 |
149 |
8e-32 |
BLAST |
|
PDB:4N4I|A
|
99 |
149 |
6e-29 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222475
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223421
AA Change: R189W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000222927
|
| 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 |
|
| 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 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
A |
G |
17: 15,164,125 (GRCm39) |
D84G |
probably damaging |
Het |
| Adat3 |
A |
T |
10: 80,443,172 (GRCm39) |
I337F |
probably damaging |
Het |
| Carmil3 |
T |
A |
14: 55,731,306 (GRCm39) |
N128K |
possibly damaging |
Het |
| Ceacam2 |
T |
C |
7: 25,230,132 (GRCm39) |
E158G |
possibly damaging |
Het |
| Cel |
T |
C |
2: 28,450,576 (GRCm39) |
I150V |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,445,432 (GRCm39) |
H441R |
probably damaging |
Het |
| Clic5 |
G |
T |
17: 44,559,633 (GRCm39) |
R109L |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,703,466 (GRCm39) |
M466V |
probably benign |
Het |
| Cyp39a1 |
T |
A |
17: 44,057,509 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
C |
A |
12: 117,946,767 (GRCm39) |
A3106S |
probably benign |
Het |
| Fasn |
A |
C |
11: 120,699,849 (GRCm39) |
|
probably null |
Het |
| Fat1 |
G |
A |
8: 45,476,086 (GRCm39) |
V1688I |
probably benign |
Het |
| Fibcd1 |
A |
G |
2: 31,723,865 (GRCm39) |
I258T |
probably benign |
Het |
| Frem2 |
C |
A |
3: 53,561,012 (GRCm39) |
R1165I |
possibly damaging |
Het |
| Gm5627 |
C |
T |
9: 102,626,685 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
T |
A |
5: 26,224,514 (GRCm39) |
T152S |
probably benign |
Het |
| Gnb3 |
T |
A |
6: 124,814,218 (GRCm39) |
D154V |
probably damaging |
Het |
| Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
| Klrb1 |
C |
A |
6: 128,699,968 (GRCm39) |
E14D |
probably benign |
Het |
| Osbpl1a |
A |
T |
18: 12,889,271 (GRCm39) |
D556E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,497 (GRCm39) |
V2330A |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,701,901 (GRCm39) |
K1345R |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,134,936 (GRCm39) |
F1756L |
probably damaging |
Het |
| Psg28 |
A |
C |
7: 18,164,296 (GRCm39) |
S139A |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,535,792 (GRCm39) |
I395N |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,983,435 (GRCm39) |
E426G |
probably damaging |
Het |
| Rtp4 |
T |
A |
16: 23,432,004 (GRCm39) |
S179T |
probably benign |
Het |
| Sh3pxd2a |
C |
A |
19: 47,257,035 (GRCm39) |
R561L |
probably benign |
Het |
| Slc29a2 |
T |
A |
19: 5,077,467 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,147,994 (GRCm39) |
F653L |
probably damaging |
Het |
| Sulf1 |
G |
T |
1: 12,906,428 (GRCm39) |
R490L |
possibly damaging |
Het |
| Ttll4 |
T |
C |
1: 74,725,052 (GRCm39) |
L602P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,607,134 (GRCm39) |
V17963A |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,557,347 (GRCm39) |
S1760P |
probably 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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation