Incidental Mutation 'R7737:Zmynd11'
ID |
596339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmynd11
|
Ensembl Gene |
ENSMUSG00000021156 |
Gene Name |
zinc finger, MYND domain containing 11 |
Synonyms |
2210402G22Rik |
MMRRC Submission |
045793-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.668)
|
Stock # |
R7737 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
9684833-9765330 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 9695139 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 248
(T248M)
|
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 damaging
Transcript: ENSMUST00000062658
AA Change: T194M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059767 Gene: ENSMUSG00000021156 AA Change: T194M
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: T208M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106263 Gene: ENSMUSG00000021156 AA Change: T208M
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: T248M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106264 Gene: ENSMUSG00000021156 AA Change: T248M
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: T217M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106265 Gene: ENSMUSG00000021156 AA Change: T217M
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: T248M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106266 Gene: ENSMUSG00000021156 AA Change: T248M
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: T194M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106267 Gene: ENSMUSG00000021156 AA Change: T194M
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: T194M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106268 Gene: ENSMUSG00000021156 AA Change: T194M
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
|
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 |
possibly damaging
Transcript: ENSMUST00000130151
AA Change: T263M
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118964 Gene: ENSMUSG00000021156 AA Change: T263M
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
|
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 |
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: 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 damaging
Transcript: ENSMUST00000154994
AA Change: T248M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116635 Gene: ENSMUSG00000021156 AA Change: T248M
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 damaging
Transcript: ENSMUST00000222475
AA Change: T163M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223421
AA Change: T247M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467  |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (63/64) |
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 |
Adamts18 |
A |
T |
8: 113,736,934 (GRCm38) |
|
probably null |
Het |
Akap3 |
T |
A |
6: 126,874,102 (GRCm38) |
M861K |
probably damaging |
Het |
Ankrd42 |
T |
C |
7: 92,605,262 (GRCm38) |
T380A |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,273,794 (GRCm38) |
E493G |
possibly damaging |
Het |
Arvcf |
G |
A |
16: 18,397,101 (GRCm38) |
R119Q |
probably damaging |
Het |
Asmt |
T |
C |
X: 170,676,440 (GRCm38) |
F228S |
probably damaging |
Het |
Atp2c2 |
T |
A |
8: 119,742,395 (GRCm38) |
V349E |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,241,673 (GRCm38) |
V233A |
possibly damaging |
Het |
Brinp3 |
G |
T |
1: 146,682,594 (GRCm38) |
K85N |
probably damaging |
Het |
Ccr6 |
G |
A |
17: 8,245,094 (GRCm38) |
|
probably benign |
Het |
D7Ertd443e |
A |
G |
7: 134,270,201 (GRCm38) |
S644P |
probably damaging |
Het |
Ddb1 |
C |
T |
19: 10,625,974 (GRCm38) |
A882V |
possibly damaging |
Het |
Epha4 |
C |
T |
1: 77,381,012 (GRCm38) |
G783D |
probably damaging |
Het |
Ephb1 |
T |
A |
9: 101,984,103 (GRCm38) |
I621F |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,701,263 (GRCm38) |
Y93* |
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 28,157,073 (GRCm38) |
V2095E |
probably damaging |
Het |
Gak |
A |
C |
5: 108,617,008 (GRCm38) |
L84R |
probably benign |
Het |
Gm5458 |
A |
T |
14: 19,599,737 (GRCm38) |
|
probably null |
Het |
Gpatch3 |
C |
G |
4: 133,575,096 (GRCm38) |
Q113E |
probably benign |
Het |
Gpld1 |
C |
A |
13: 24,975,726 (GRCm38) |
L426M |
probably damaging |
Het |
Ighmbp2 |
G |
A |
19: 3,274,467 (GRCm38) |
P234S |
unknown |
Het |
Itga6 |
G |
A |
2: 71,822,443 (GRCm38) |
V217I |
probably benign |
Het |
Kdm7a |
A |
T |
6: 39,144,404 (GRCm38) |
N872K |
probably benign |
Het |
Klhl14 |
G |
T |
18: 21,558,134 (GRCm38) |
Y446* |
probably null |
Het |
Larp4b |
T |
A |
13: 9,170,643 (GRCm38) |
|
probably null |
Het |
Lct |
A |
T |
1: 128,298,693 (GRCm38) |
W1320R |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,496,438 (GRCm38) |
D1763G |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,815,446 (GRCm38) |
N2499Y |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,581,185 (GRCm38) |
|
probably null |
Het |
Mettl15 |
T |
C |
2: 109,137,378 (GRCm38) |
K188E |
probably damaging |
Het |
Mfsd4b1 |
A |
G |
10: 40,003,278 (GRCm38) |
S208P |
probably damaging |
Het |
Mlxipl |
T |
C |
5: 135,135,381 (GRCm38) |
S793P |
possibly damaging |
Het |
Ms4a14 |
G |
A |
19: 11,302,786 (GRCm38) |
Q803* |
probably null |
Het |
Mtor |
A |
C |
4: 148,538,738 (GRCm38) |
E2015A |
possibly damaging |
Het |
Myo15b |
A |
T |
11: 115,887,923 (GRCm38) |
Y2581F |
unknown |
Het |
Myo7b |
A |
T |
18: 32,014,204 (GRCm38) |
Y95* |
probably null |
Het |
Nf1 |
A |
G |
11: 79,545,488 (GRCm38) |
I1985V |
probably benign |
Het |
Noxred1 |
G |
A |
12: 87,221,362 (GRCm38) |
Q332* |
probably null |
Het |
Nudt21 |
A |
T |
8: 94,022,833 (GRCm38) |
Y202N |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,217,890 (GRCm38) |
L608P |
probably damaging |
Het |
Or1j16 |
A |
T |
2: 36,640,620 (GRCm38) |
I194F |
probably benign |
Het |
Pik3c2a |
A |
T |
7: 116,356,253 (GRCm38) |
S1176T |
probably damaging |
Het |
Pramel14 |
A |
C |
4: 143,991,956 (GRCm38) |
S306A |
possibly damaging |
Het |
Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,457,541 (GRCm38) |
|
probably benign |
Het |
Rbmxl1 |
A |
G |
8: 78,505,623 (GRCm38) |
S364P |
unknown |
Het |
Rnf24 |
T |
A |
2: 131,303,496 (GRCm38) |
K131N |
probably benign |
Het |
Scai |
T |
A |
2: 39,123,022 (GRCm38) |
Q132L |
probably damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,723,953 (GRCm38) |
R49G |
probably benign |
Het |
Slc12a7 |
A |
G |
13: 73,788,677 (GRCm38) |
E152G |
probably benign |
Het |
Slc22a27 |
A |
T |
19: 7,896,762 (GRCm38) |
M316K |
probably damaging |
Het |
Spag1 |
G |
T |
15: 36,210,710 (GRCm38) |
A427S |
probably benign |
Het |
Speer4a3 |
AACT |
A |
5: 25,950,851 (GRCm38) |
|
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm38) |
|
probably benign |
Het |
Stk16 |
G |
T |
1: 75,211,351 (GRCm38) |
C8F |
probably damaging |
Het |
Syne2 |
T |
C |
12: 75,942,848 (GRCm38) |
C1834R |
probably damaging |
Het |
Tie1 |
C |
T |
4: 118,478,857 (GRCm38) |
|
probably null |
Het |
Timp2 |
A |
G |
11: 118,303,895 (GRCm38) |
I156T |
probably damaging |
Het |
Tmem163 |
A |
G |
1: 127,491,610 (GRCm38) |
M286T |
possibly damaging |
Het |
Tmx4 |
T |
A |
2: 134,639,668 (GRCm38) |
M112L |
probably benign |
Het |
Trank1 |
G |
T |
9: 111,366,012 (GRCm38) |
E1035* |
probably null |
Het |
Trim5 |
C |
T |
7: 104,279,564 (GRCm38) |
V57M |
probably damaging |
Het |
Ubr3 |
A |
G |
2: 69,991,566 (GRCm38) |
S1391G |
probably benign |
Het |
Vmn1r72 |
A |
T |
7: 11,669,707 (GRCm38) |
S271R |
probably damaging |
Het |
Xpo5 |
G |
A |
17: 46,236,090 (GRCm38) |
|
probably null |
Het |
Zfp592 |
A |
T |
7: 81,025,193 (GRCm38) |
H635L |
probably damaging |
Het |
Zfp791 |
A |
T |
8: 85,112,215 (GRCm38) |
N62K |
probably benign |
Het |
Zfp998 |
A |
G |
13: 66,433,677 (GRCm38) |
|
probably null |
Het |
|
Other mutations in Zmynd11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00573:Zmynd11
|
APN |
13 |
9,689,226 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL00846:Zmynd11
|
APN |
13 |
9,720,772 (GRCm38) |
critical splice donor site |
probably null |
|
IGL01606:Zmynd11
|
APN |
13 |
9,697,688 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03229:Zmynd11
|
APN |
13 |
9,689,565 (GRCm38) |
missense |
probably damaging |
1.00 |
R1173:Zmynd11
|
UTSW |
13 |
9,689,549 (GRCm38) |
missense |
probably damaging |
1.00 |
R1413:Zmynd11
|
UTSW |
13 |
9,710,220 (GRCm38) |
missense |
probably damaging |
1.00 |
R1813:Zmynd11
|
UTSW |
13 |
9,689,580 (GRCm38) |
missense |
possibly damaging |
0.53 |
R1872:Zmynd11
|
UTSW |
13 |
9,698,701 (GRCm38) |
missense |
possibly damaging |
0.88 |
R2002:Zmynd11
|
UTSW |
13 |
9,689,478 (GRCm38) |
splice site |
probably null |
|
R2991:Zmynd11
|
UTSW |
13 |
9,695,822 (GRCm38) |
missense |
probably damaging |
0.99 |
R4273:Zmynd11
|
UTSW |
13 |
9,697,690 (GRCm38) |
missense |
probably damaging |
1.00 |
R4708:Zmynd11
|
UTSW |
13 |
9,695,753 (GRCm38) |
missense |
probably damaging |
0.97 |
R4718:Zmynd11
|
UTSW |
13 |
9,689,567 (GRCm38) |
missense |
possibly damaging |
0.86 |
R5011:Zmynd11
|
UTSW |
13 |
9,689,443 (GRCm38) |
unclassified |
probably benign |
|
R5151:Zmynd11
|
UTSW |
13 |
9,690,917 (GRCm38) |
missense |
probably damaging |
1.00 |
R5963:Zmynd11
|
UTSW |
13 |
9,695,895 (GRCm38) |
intron |
probably benign |
|
R6648:Zmynd11
|
UTSW |
13 |
9,713,021 (GRCm38) |
missense |
probably benign |
0.11 |
R7002:Zmynd11
|
UTSW |
13 |
9,694,330 (GRCm38) |
missense |
probably damaging |
1.00 |
R7223:Zmynd11
|
UTSW |
13 |
9,710,162 (GRCm38) |
missense |
probably benign |
0.09 |
R7322:Zmynd11
|
UTSW |
13 |
9,690,409 (GRCm38) |
missense |
possibly damaging |
0.53 |
R7462:Zmynd11
|
UTSW |
13 |
9,698,684 (GRCm38) |
missense |
probably benign |
0.29 |
R7500:Zmynd11
|
UTSW |
13 |
9,735,398 (GRCm38) |
missense |
probably benign |
0.00 |
R8181:Zmynd11
|
UTSW |
13 |
9,689,651 (GRCm38) |
missense |
probably benign |
0.08 |
R8331:Zmynd11
|
UTSW |
13 |
9,695,154 (GRCm38) |
missense |
probably benign |
0.21 |
R8853:Zmynd11
|
UTSW |
13 |
9,690,929 (GRCm38) |
missense |
probably damaging |
0.99 |
R9115:Zmynd11
|
UTSW |
13 |
9,693,459 (GRCm38) |
missense |
probably damaging |
1.00 |
R9184:Zmynd11
|
UTSW |
13 |
9,693,439 (GRCm38) |
missense |
probably benign |
0.01 |
R9747:Zmynd11
|
UTSW |
13 |
9,689,208 (GRCm38) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCAGTGCTTCAAAGTTACTAAAG -3'
(R):5'- CCTGTGCCACCTGAACATTC -3'
Sequencing Primer
(F):5'- GCCATAACATGTTGTTAAGTTTTTCC -3'
(R):5'- TGTGCCACCTGAACATTCTATAAAAC -3'
|
Posted On |
2019-11-26 |