Incidental Mutation 'R5151:Zmynd11'
ID |
395391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmynd11
|
Ensembl Gene |
ENSMUSG00000021156 |
Gene Name |
zinc finger, MYND domain containing 11 |
Synonyms |
2210402G22Rik |
MMRRC Submission |
042733-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.650)
|
Stock # |
R5151 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
9734869-9815366 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9740953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 382
(T382A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106266
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000110638]
[ENSMUST00000157035]
[ENSMUST00000130151]
[ENSMUST00000154994]
[ENSMUST00000220996]
[ENSMUST00000222475]
[ENSMUST00000223421]
|
AlphaFold |
Q8R5C8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062658
AA Change: T328A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000059767 Gene: ENSMUSG00000021156 AA Change: T328A
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: T342A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106263 Gene: ENSMUSG00000021156 AA Change: T342A
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: T382A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106264 Gene: ENSMUSG00000021156 AA Change: T382A
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: T351A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106265 Gene: ENSMUSG00000021156 AA Change: T351A
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: T382A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106266 Gene: ENSMUSG00000021156 AA Change: T382A
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: T328A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106267 Gene: ENSMUSG00000021156 AA Change: T328A
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: T328A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106268 Gene: ENSMUSG00000021156 AA Change: T328A
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 benign
Transcript: ENSMUST00000157035
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221492
|
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 |
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: ENSMUST00000220996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222421
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222475
AA Change: T297A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223421
AA Change: T381A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222446
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222927
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
T |
A |
15: 101,108,651 (GRCm39) |
C476S |
probably damaging |
Het |
Agpat2 |
A |
G |
2: 26,487,218 (GRCm39) |
M120T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,994,933 (GRCm39) |
T5406A |
probably benign |
Het |
Ano4 |
A |
G |
10: 88,948,775 (GRCm39) |
F112L |
probably damaging |
Het |
Arhgef11 |
T |
A |
3: 87,642,667 (GRCm39) |
V1371D |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,514,059 (GRCm39) |
N286S |
probably damaging |
Het |
Ate1 |
T |
C |
7: 130,109,394 (GRCm39) |
K202E |
possibly damaging |
Het |
Cacna1d |
T |
C |
14: 29,845,280 (GRCm39) |
T630A |
probably damaging |
Het |
Ccdc187 |
G |
T |
2: 26,183,451 (GRCm39) |
T183N |
probably damaging |
Het |
Cdk12 |
C |
T |
11: 98,140,749 (GRCm39) |
|
probably benign |
Het |
Ciita |
A |
G |
16: 10,341,594 (GRCm39) |
N978S |
probably damaging |
Het |
Cit |
A |
T |
5: 116,117,894 (GRCm39) |
Q1268L |
probably damaging |
Het |
Csf2rb |
C |
T |
15: 78,224,781 (GRCm39) |
R180W |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,918,293 (GRCm39) |
I4079V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,659,929 (GRCm39) |
V693A |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,931,269 (GRCm39) |
V1428E |
probably benign |
Het |
Dnhd1 |
C |
A |
7: 105,362,647 (GRCm39) |
Q3777K |
probably benign |
Het |
Dock9 |
A |
G |
14: 121,815,582 (GRCm39) |
Y1666H |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,758,670 (GRCm39) |
|
probably null |
Het |
Erich4 |
T |
C |
7: 25,315,292 (GRCm39) |
|
probably benign |
Het |
Fah |
T |
A |
7: 84,250,259 (GRCm39) |
D99V |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,404,851 (GRCm39) |
V534A |
possibly damaging |
Het |
Fgf21 |
G |
C |
7: 45,263,456 (GRCm39) |
S207R |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,792,969 (GRCm39) |
P967S |
probably damaging |
Het |
H2-T23 |
T |
C |
17: 36,343,230 (GRCm39) |
D49G |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,455 (GRCm39) |
N1819S |
probably null |
Het |
Hoxc12 |
A |
G |
15: 102,846,881 (GRCm39) |
I258V |
probably damaging |
Het |
Ighv1-22 |
T |
A |
12: 114,709,928 (GRCm39) |
T106S |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,270 (GRCm39) |
T327A |
probably damaging |
Het |
Iqgap3 |
G |
T |
3: 88,025,067 (GRCm39) |
M689I |
possibly damaging |
Het |
Itga7 |
G |
A |
10: 128,780,380 (GRCm39) |
G559S |
possibly damaging |
Het |
Kcnq1 |
G |
T |
7: 142,979,749 (GRCm39) |
V632L |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,954,792 (GRCm39) |
V230A |
probably damaging |
Het |
Mfn2 |
A |
T |
4: 147,970,785 (GRCm39) |
S305T |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,516,883 (GRCm39) |
T818A |
probably benign |
Het |
Nacc2 |
G |
A |
2: 25,980,365 (GRCm39) |
R24C |
probably damaging |
Het |
Ntrk3 |
A |
C |
7: 77,897,048 (GRCm39) |
I663R |
probably damaging |
Het |
Nyap1 |
A |
G |
5: 137,734,376 (GRCm39) |
V219A |
probably damaging |
Het |
Obox3 |
A |
T |
7: 15,360,173 (GRCm39) |
N165K |
probably damaging |
Het |
Or13a1 |
T |
A |
6: 116,470,765 (GRCm39) |
L65* |
probably null |
Het |
Or13j1 |
A |
T |
4: 43,706,518 (GRCm39) |
F17I |
probably damaging |
Het |
Or2y12 |
A |
G |
11: 49,426,242 (GRCm39) |
T77A |
possibly damaging |
Het |
Or52e2 |
C |
A |
7: 102,804,593 (GRCm39) |
M120I |
probably damaging |
Het |
Or55b4 |
G |
A |
7: 102,134,192 (GRCm39) |
T45I |
probably benign |
Het |
Pask |
A |
T |
1: 93,262,350 (GRCm39) |
L170H |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,163,480 (GRCm39) |
I2146N |
possibly damaging |
Het |
Pitpnm2 |
A |
T |
5: 124,274,449 (GRCm39) |
M220K |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
Pla2g3 |
C |
T |
11: 3,440,827 (GRCm39) |
T264M |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,104,165 (GRCm39) |
Y278F |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,533,899 (GRCm39) |
L1579P |
probably damaging |
Het |
Rad51ap2 |
T |
A |
12: 11,507,516 (GRCm39) |
N479K |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,044,155 (GRCm39) |
H966R |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,471,509 (GRCm39) |
D996G |
probably damaging |
Het |
Rif1 |
A |
C |
2: 52,010,321 (GRCm39) |
K2337T |
probably damaging |
Het |
Rpl13a |
G |
T |
7: 44,775,385 (GRCm39) |
N442K |
probably benign |
Het |
Serpini2 |
T |
A |
3: 75,153,820 (GRCm39) |
T380S |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,901,214 (GRCm39) |
W818R |
probably damaging |
Het |
Siae |
T |
A |
9: 37,542,869 (GRCm39) |
C185S |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,572,659 (GRCm39) |
V674A |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,950,516 (GRCm39) |
M312K |
possibly damaging |
Het |
Slc46a3 |
A |
G |
5: 147,823,566 (GRCm39) |
L92S |
probably damaging |
Het |
Son |
T |
C |
16: 91,452,587 (GRCm39) |
S445P |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,090,484 (GRCm39) |
F351L |
probably benign |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Tmem248 |
T |
A |
5: 130,269,238 (GRCm39) |
L277H |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,838,757 (GRCm39) |
H698L |
probably benign |
Het |
Ushbp1 |
A |
G |
8: 71,847,799 (GRCm39) |
V24A |
possibly damaging |
Het |
Usp24 |
G |
T |
4: 106,256,309 (GRCm39) |
|
probably null |
Het |
Vmn2r50 |
T |
G |
7: 9,786,970 (GRCm39) |
I46L |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,365,208 (GRCm39) |
T423A |
probably benign |
Het |
Zfp663 |
T |
A |
2: 165,195,113 (GRCm39) |
T369S |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTCACATCTTTGCACTGG -3'
(R):5'- GGGGTTTCTAACTACACCTCCC -3'
Sequencing Primer
(F):5'- CACATCTTTGCACTGGTTTGG -3'
(R):5'- GAGCCTGGATTCCTTCTGAAAAC -3'
|
Posted On |
2016-06-21 |