Incidental Mutation 'R4708:Zmynd11'
| ID |
355441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd11
|
| Ensembl Gene |
ENSMUSG00000021156 |
| Gene Name |
zinc finger, MYND domain containing 11 |
| Synonyms |
2210402G22Rik |
| MMRRC Submission |
042017-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.650)
|
| Stock # |
R4708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
9734869-9815366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 9745789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 188
(V188G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000110638]
[ENSMUST00000154994]
[ENSMUST00000130151]
[ENSMUST00000157035]
[ENSMUST00000222475]
[ENSMUST00000146059]
[ENSMUST00000128658]
[ENSMUST00000152725]
[ENSMUST00000220996]
[ENSMUST00000144642]
[ENSMUST00000223421]
|
| AlphaFold |
Q8R5C8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062658
AA Change: V174G
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: V174G
| 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: V188G
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: V188G
| 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: V228G
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: V228G
| 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: V197G
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: V197G
| 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: V228G
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: V228G
| 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 |
possibly damaging
Transcript: ENSMUST00000110637
AA Change: V174G
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: V174G
| 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: ENSMUST00000110638
AA Change: V174G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: V174G
| 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: ENSMUST00000154994
AA Change: V228G
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116635
Gene: ENSMUSG00000021156
AA Change: V228G
| 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: ENSMUST00000130151
AA Change: V243G
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118964
Gene: ENSMUSG00000021156
AA Change: V243G
| 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: ENSMUST00000138039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222475
AA Change: V143G
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000222038
|
| 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: ENSMUST00000220996
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000222927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223421
AA Change: V228G
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.2646 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
97% (68/70) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,261,309 (GRCm39) |
G2D |
probably damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,404,717 (GRCm39) |
Y62C |
probably damaging |
Het |
| Aadacl4 |
A |
C |
4: 144,349,899 (GRCm39) |
K385N |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,965,125 (GRCm39) |
T332S |
possibly damaging |
Het |
| Aco2 |
G |
A |
15: 81,794,117 (GRCm39) |
|
probably null |
Het |
| Aplf |
G |
T |
6: 87,640,739 (GRCm39) |
S69Y |
probably damaging |
Het |
| Arhgap27 |
A |
G |
11: 103,224,388 (GRCm39) |
|
probably benign |
Het |
| B4galnt1 |
T |
A |
10: 127,005,684 (GRCm39) |
Y262N |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccdc62 |
T |
G |
5: 124,068,925 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,579,871 (GRCm39) |
I649K |
probably benign |
Het |
| Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,359,126 (GRCm39) |
K952R |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,463,938 (GRCm39) |
H190R |
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,314,489 (GRCm39) |
S378P |
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,202,150 (GRCm39) |
Q947R |
probably benign |
Het |
| Dennd3 |
A |
G |
15: 73,395,344 (GRCm39) |
T146A |
probably damaging |
Het |
| Dpy19l4 |
T |
A |
4: 11,277,970 (GRCm39) |
M486L |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eif4enif1 |
T |
G |
11: 3,170,323 (GRCm39) |
H125Q |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
| Fubp3 |
C |
T |
2: 31,498,122 (GRCm39) |
T92I |
probably benign |
Het |
| Gm19426 |
T |
C |
2: 84,573,803 (GRCm39) |
|
probably null |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,140 (GRCm39) |
H466R |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,019 (GRCm39) |
S573G |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,021,554 (GRCm39) |
M916K |
probably benign |
Het |
| Insr |
A |
T |
8: 3,261,346 (GRCm39) |
|
probably benign |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ivl |
T |
A |
3: 92,479,057 (GRCm39) |
K336I |
probably damaging |
Het |
| Kcng2 |
A |
G |
18: 80,366,067 (GRCm39) |
I95T |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,668,480 (GRCm39) |
R431G |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,005 (GRCm39) |
H115R |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,670,126 (GRCm39) |
V767A |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,839,859 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nat9 |
G |
A |
11: 115,074,269 (GRCm39) |
T133M |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,714 (GRCm39) |
I349T |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,163,533 (GRCm39) |
E900G |
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,084,265 (GRCm39) |
M438K |
probably benign |
Het |
| Or2y14 |
T |
A |
11: 49,405,216 (GRCm39) |
Y250* |
probably null |
Het |
| Or52p2 |
A |
T |
7: 102,237,043 (GRCm39) |
D302E |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,261 (GRCm39) |
I41F |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,169,341 (GRCm39) |
E804K |
possibly damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,735,067 (GRCm39) |
W216R |
probably damaging |
Het |
| Rhof |
T |
A |
5: 123,258,454 (GRCm39) |
T126S |
probably benign |
Het |
| Riox2 |
A |
G |
16: 59,296,045 (GRCm39) |
I49V |
probably benign |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,873,852 (GRCm39) |
V345A |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,989,790 (GRCm39) |
V372A |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,723,521 (GRCm39) |
V553D |
possibly damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,774 (GRCm39) |
C750S |
probably benign |
Het |
| Tmem231 |
C |
A |
8: 112,660,418 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
T |
A |
11: 115,677,121 (GRCm39) |
I131N |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,539,163 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,123 (GRCm39) |
T245I |
possibly damaging |
Het |
| Ttbk2 |
C |
A |
2: 120,570,342 (GRCm39) |
R1201S |
probably damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,576 (GRCm39) |
M714L |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,605 (GRCm39) |
L584S |
probably damaging |
Het |
| Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,773,250 (GRCm39) |
D92E |
probably benign |
Het |
| Zan |
T |
C |
5: 137,444,974 (GRCm39) |
I1762V |
unknown |
Het |
| Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,310,563 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
T |
C |
9: 20,263,214 (GRCm39) |
E54G |
possibly damaging |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAAAAGAATGCTTTCCCCAC -3'
(R):5'- CCACTGTGGGAAGTAGACACAC -3'
Sequencing Primer
(F):5'- GAATGCTTTCCCCACACAGG -3'
(R):5'- GTAGACACACTGGCCACATGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation