Incidental Mutation 'R1813:Zmynd11'
| ID |
202580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd11
|
| Ensembl Gene |
ENSMUSG00000021156 |
| Gene Name |
zinc finger, MYND domain containing 11 |
| Synonyms |
2210402G22Rik |
| MMRRC Submission |
039841-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.668)
|
| Stock # |
R1813 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
9734869-9815366 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9739616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 474
(T474A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062658]
[ENSMUST00000110633]
[ENSMUST00000110634]
[ENSMUST00000110635]
[ENSMUST00000110636]
[ENSMUST00000110637]
[ENSMUST00000110638]
[ENSMUST00000222475]
[ENSMUST00000223421]
[ENSMUST00000157035]
[ENSMUST00000130151]
[ENSMUST00000220996]
|
| AlphaFold |
Q8R5C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062658
AA Change: T404A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059767
Gene: ENSMUSG00000021156
AA Change: T404A
| 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: T474A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106263
Gene: ENSMUSG00000021156
AA Change: T474A
| 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: T458A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106264
Gene: ENSMUSG00000021156
AA Change: T458A
| 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: T427A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106265
Gene: ENSMUSG00000021156
AA Change: T427A
| 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: T458A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106266
Gene: ENSMUSG00000021156
AA Change: T458A
| 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: ENSMUST00000110637
AA Change: T404A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106267
Gene: ENSMUSG00000021156
AA Change: T404A
| 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: T460A
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106268
Gene: ENSMUSG00000021156
AA Change: T460A
| 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: ENSMUST00000222475
AA Change: T373A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223421
AA Change: T457A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222038
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222446
|
| 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 |
probably benign
Transcript: ENSMUST00000220996
|
| Meta Mutation Damage Score |
0.1107 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.8%
- 20x: 90.3%
|
| Validation Efficiency |
96% (79/82) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,543,236 (GRCm39) |
N595Y |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,124,671 (GRCm39) |
|
probably benign |
Het |
| Abo |
C |
A |
2: 26,733,609 (GRCm39) |
D199Y |
probably damaging |
Het |
| Acvr1c |
A |
C |
2: 58,170,306 (GRCm39) |
V277G |
probably damaging |
Het |
| Adam23 |
G |
A |
1: 63,584,731 (GRCm39) |
A380T |
probably benign |
Het |
| Art2b |
A |
G |
7: 101,229,236 (GRCm39) |
V221A |
probably benign |
Het |
| Bcam |
A |
G |
7: 19,500,640 (GRCm39) |
S153P |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,077,906 (GRCm39) |
H174R |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,788,601 (GRCm39) |
D536G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,524,287 (GRCm39) |
N67S |
probably benign |
Het |
| Cd8a |
G |
T |
6: 71,350,947 (GRCm39) |
M137I |
possibly damaging |
Het |
| Ces2g |
T |
C |
8: 105,693,569 (GRCm39) |
F417L |
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,925,660 (GRCm39) |
N23S |
unknown |
Het |
| Cntnap2 |
T |
C |
6: 46,507,567 (GRCm39) |
Y61C |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,979,784 (GRCm39) |
E182D |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,342,624 (GRCm39) |
|
noncoding transcript |
Het |
| Dock4 |
A |
T |
12: 40,686,227 (GRCm39) |
N154I |
probably damaging |
Het |
| Dysf |
T |
G |
6: 84,128,906 (GRCm39) |
V1422G |
possibly damaging |
Het |
| E2f3 |
T |
C |
13: 30,104,159 (GRCm39) |
D140G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,514 (GRCm39) |
K452R |
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,317,466 (GRCm39) |
|
probably null |
Het |
| Epha2 |
A |
G |
4: 141,035,857 (GRCm39) |
K98E |
possibly damaging |
Het |
| Esyt1 |
T |
C |
10: 128,355,487 (GRCm39) |
D444G |
probably benign |
Het |
| Fam163a |
T |
C |
1: 155,955,787 (GRCm39) |
T2A |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,379,767 (GRCm39) |
|
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,259,367 (GRCm39) |
H34R |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,897,996 (GRCm39) |
S79P |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,823,276 (GRCm39) |
S333P |
probably damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
| Gzmk |
A |
G |
13: 113,309,427 (GRCm39) |
S208P |
probably damaging |
Het |
| Htra2 |
G |
T |
6: 83,028,583 (GRCm39) |
A318D |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,907,805 (GRCm39) |
D633G |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,098,218 (GRCm39) |
R1805H |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,909,121 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,936,182 (GRCm39) |
V619A |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,362,402 (GRCm39) |
T1408A |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,753 (GRCm39) |
D779G |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,678 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Obox6 |
A |
T |
7: 15,568,770 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,489,133 (GRCm39) |
I304V |
probably damaging |
Het |
| Or8b41 |
T |
A |
9: 38,055,025 (GRCm39) |
I198N |
possibly damaging |
Het |
| Pkig |
T |
A |
2: 163,563,147 (GRCm39) |
I26N |
possibly damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,369,750 (GRCm39) |
V82M |
possibly damaging |
Het |
| Plppr2 |
G |
A |
9: 21,859,220 (GRCm39) |
A446T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,754,353 (GRCm39) |
F203L |
probably benign |
Het |
| Sh3bp1 |
A |
G |
15: 78,787,880 (GRCm39) |
K137E |
probably damaging |
Het |
| Shisa5 |
T |
A |
9: 108,885,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,414,931 (GRCm39) |
L21P |
probably benign |
Het |
| Slc35f1 |
C |
T |
10: 52,809,291 (GRCm39) |
P93S |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,194,167 (GRCm39) |
T172A |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,393,710 (GRCm39) |
Y551F |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,612 (GRCm39) |
S587P |
probably benign |
Het |
| Syna |
C |
A |
5: 134,588,006 (GRCm39) |
M314I |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,152 (GRCm39) |
L144P |
probably damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,641,271 (GRCm39) |
T369A |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,119,493 (GRCm39) |
C160* |
probably null |
Het |
| Trim45 |
A |
G |
3: 100,830,283 (GRCm39) |
N19S |
probably benign |
Het |
| Uba2 |
A |
G |
7: 33,850,455 (GRCm39) |
F364S |
probably damaging |
Het |
| Unc50 |
T |
A |
1: 37,476,323 (GRCm39) |
L161Q |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,348,992 (GRCm39) |
|
probably null |
Het |
| Usp25 |
A |
G |
16: 76,911,838 (GRCm39) |
I956V |
probably benign |
Het |
| Utf1 |
C |
A |
7: 139,524,213 (GRCm39) |
L143I |
probably damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,490,143 (GRCm39) |
C22Y |
probably damaging |
Het |
| Vmn1r36 |
T |
A |
6: 66,693,756 (GRCm39) |
M40L |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,055 (GRCm39) |
V386A |
possibly damaging |
Het |
| Vps9d1 |
C |
A |
8: 123,973,778 (GRCm39) |
R335L |
probably damaging |
Het |
| Wasf1 |
T |
A |
10: 40,802,585 (GRCm39) |
V80D |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,183,298 (GRCm39) |
V1077I |
possibly damaging |
Het |
| Wnt8a |
A |
G |
18: 34,675,422 (GRCm39) |
M1V |
probably null |
Het |
| Zbtb26 |
A |
G |
2: 37,326,347 (GRCm39) |
S230P |
possibly damaging |
Het |
| Zfp335 |
A |
G |
2: 164,734,525 (GRCm39) |
V1247A |
probably damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,505 (GRCm39) |
N313S |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,634,569 (GRCm39) |
C380S |
probably damaging |
Het |
| Zfyve21 |
G |
A |
12: 111,791,328 (GRCm39) |
E134K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCTTTGCACTCTCCACC -3'
(R):5'- ACCAGCTTAATTACCTGCTTGG -3'
Sequencing Primer
(F):5'- GCACTCTCCACCGCCCC -3'
(R):5'- CTGAATCAGGGTGAGTTATATTACCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation