Incidental Mutation 'IGL03229:Zmynd11'
| ID |
413809 |
| 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 # |
IGL03229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
9734869-9815366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9739601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 462
(C462R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000110638]
[ENSMUST00000222475]
[ENSMUST00000223421]
[ENSMUST00000130151]
[ENSMUST00000157035]
[ENSMUST00000220996]
|
| AlphaFold |
Q8R5C8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062658
AA Change: C409R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: C409R
| 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: ENSMUST00000110633
AA Change: C479R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: C479R
| 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: C463R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: C463R
| 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: ENSMUST00000110635
AA Change: C432R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: C432R
| 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: C463R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: C463R
| 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: C409R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: C409R
| 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: C465R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: C465R
| 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 |
noncoding transcript
Transcript: ENSMUST00000137932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137813
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138039
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222475
AA Change: C378R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223421
AA Change: C462R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222038
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130151
|
| SMART Domains |
Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
| 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 |
noncoding transcript
Transcript: ENSMUST00000222421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220996
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,990,936 (GRCm39) |
I832T |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,455,108 (GRCm39) |
S124P |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,704 (GRCm39) |
T238A |
probably benign |
Het |
| Coq4 |
A |
G |
2: 29,678,497 (GRCm39) |
D41G |
probably benign |
Het |
| Cpb1 |
A |
T |
3: 20,304,001 (GRCm39) |
Y354* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,105,719 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,311,456 (GRCm39) |
R1755H |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,863,605 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
T |
C |
10: 110,590,207 (GRCm39) |
V120A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,420 (GRCm39) |
I1580F |
possibly damaging |
Het |
| Gm9755 |
C |
A |
8: 67,967,324 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
T |
G |
10: 51,492,699 (GRCm39) |
N480T |
probably damaging |
Het |
| H2ac20 |
C |
T |
3: 96,127,953 (GRCm39) |
A70T |
probably damaging |
Het |
| H2-T9 |
C |
T |
17: 36,438,614 (GRCm39) |
G259E |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,357,909 (GRCm39) |
I331V |
probably benign |
Het |
| Heatr6 |
G |
T |
11: 83,672,271 (GRCm39) |
G1093V |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,193,366 (GRCm39) |
E162G |
probably damaging |
Het |
| Nckipsd |
T |
C |
9: 108,688,813 (GRCm39) |
V116A |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,986,686 (GRCm38) |
H997R |
probably benign |
Het |
| Nxph1 |
A |
G |
6: 9,247,830 (GRCm39) |
Y267C |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,360 (GRCm39) |
C241S |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,656,686 (GRCm39) |
V829E |
probably damaging |
Het |
| Prkcz |
A |
C |
4: 155,346,963 (GRCm39) |
S573A |
probably benign |
Het |
| Prl2c1 |
T |
A |
13: 28,040,612 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,015,925 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,057 (GRCm39) |
I1253F |
probably damaging |
Het |
| Tarm1 |
A |
G |
7: 3,545,413 (GRCm39) |
C146R |
probably damaging |
Het |
| Tor2a |
A |
T |
2: 32,649,704 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,305 (GRCm39) |
L17Q |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,385 (GRCm39) |
L53Q |
probably damaging |
Het |
| Ubr7 |
T |
C |
12: 102,735,414 (GRCm39) |
L291P |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,100,798 (GRCm39) |
V1878A |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,064,437 (GRCm39) |
|
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,013,811 (GRCm39) |
H42R |
probably benign |
Het |
| Zfp750 |
G |
A |
11: 121,403,778 (GRCm39) |
H366Y |
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 |
|
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 |
2016-08-02 |
Incidental Mutation