Incidental Mutation 'R0152:Zmynd10'
| ID |
258012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd10
|
| Ensembl Gene |
ENSMUSG00000010044 |
| Gene Name |
zinc finger, MYND domain containing 10 |
| Synonyms |
Blu |
| MMRRC Submission |
038435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.725)
|
| Stock # |
R0152 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107424497-107428518 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 107428144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010188]
[ENSMUST00000010211]
[ENSMUST00000093786]
[ENSMUST00000122225]
[ENSMUST00000156198]
[ENSMUST00000193303]
|
| AlphaFold |
Q99ML0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010188
|
| SMART Domains |
Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
394 |
430 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000010211
|
| SMART Domains |
Protein: ENSMUSP00000010211
Gene: ENSMUSG00000010067
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
|
RA
|
124 |
218 |
6.26e-24 |
SMART |
|
PDB:4LGD|H
|
219 |
264 |
3e-13 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000093786
|
| SMART Domains |
Protein: ENSMUSP00000091301
Gene: ENSMUSG00000010067
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
101 |
4.7e-7 |
SMART |
|
low complexity region
|
168 |
185 |
N/A |
INTRINSIC |
|
RA
|
194 |
288 |
6.26e-24 |
SMART |
|
PDB:4LGD|H
|
289 |
334 |
3e-12 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122225
|
| SMART Domains |
Protein: ENSMUSP00000113252
Gene: ENSMUSG00000010067
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
44 |
105 |
1.92e-3 |
SMART |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
RA
|
198 |
292 |
6.26e-24 |
SMART |
|
Pfam:Nore1-SARAH
|
299 |
338 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156198
|
| SMART Domains |
Protein: ENSMUSP00000117722
Gene: ENSMUSG00000010067
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C1
|
44 |
83 |
6e-24 |
BLAST |
|
SCOP:d1ptq__
|
52 |
82 |
5e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193303
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
87% (40/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,074,688 (GRCm39) |
D834G |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,531,724 (GRCm39) |
H4650Q |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,989,491 (GRCm39) |
T111S |
probably benign |
Het |
| Arfip2 |
G |
A |
7: 105,286,430 (GRCm39) |
T124M |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,902,745 (GRCm39) |
A574E |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,330,965 (GRCm39) |
S560P |
probably damaging |
Het |
| Car5a |
T |
A |
8: 122,643,185 (GRCm39) |
N273I |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,844,709 (GRCm39) |
Q359* |
probably null |
Het |
| Cgrrf1 |
G |
A |
14: 47,091,370 (GRCm39) |
C298Y |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 30,002,857 (GRCm39) |
A416T |
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eif3e |
G |
A |
15: 43,115,632 (GRCm39) |
A378V |
possibly damaging |
Het |
| Ercc6 |
C |
G |
14: 32,268,862 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
A |
G |
7: 119,389,606 (GRCm39) |
V104A |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,264,504 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,539,630 (GRCm39) |
Y2954N |
probably benign |
Het |
| Itga2 |
C |
T |
13: 115,002,850 (GRCm39) |
G547R |
probably benign |
Het |
| Kbtbd11 |
T |
C |
8: 15,077,428 (GRCm39) |
V9A |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,699,141 (GRCm39) |
D99G |
possibly damaging |
Het |
| Mfsd12 |
G |
T |
10: 81,193,633 (GRCm39) |
D68Y |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,384 (GRCm39) |
D228G |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,272,605 (GRCm39) |
L1441Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,943,402 (GRCm39) |
D4810G |
probably benign |
Het |
| Or10ak9 |
T |
A |
4: 118,726,083 (GRCm39) |
I34N |
possibly damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,719 (GRCm39) |
Y283F |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,472 (GRCm39) |
V67A |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,757 (GRCm39) |
I51T |
probably benign |
Het |
| Pdhx |
A |
G |
2: 102,858,625 (GRCm39) |
V393A |
probably benign |
Het |
| Pdpk1 |
C |
T |
17: 24,325,920 (GRCm39) |
R92H |
possibly damaging |
Het |
| Pgr |
A |
T |
9: 8,965,023 (GRCm39) |
I889F |
probably benign |
Het |
| Pum2 |
T |
A |
12: 8,778,754 (GRCm39) |
I468K |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,785,499 (GRCm39) |
S666P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,579,497 (GRCm39) |
I588M |
probably damaging |
Het |
| Slc9a2 |
A |
G |
1: 40,781,964 (GRCm39) |
T398A |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Tub |
A |
T |
7: 108,620,134 (GRCm39) |
N93Y |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,447,432 (GRCm39) |
T181A |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,970,919 (GRCm39) |
L637P |
probably damaging |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,240 (GRCm39) |
S60P |
possibly damaging |
Het |
| Wdcp |
A |
G |
12: 4,901,583 (GRCm39) |
S480G |
probably benign |
Het |
| Zbtb38 |
T |
C |
9: 96,568,333 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zfp68 |
T |
C |
5: 138,604,875 (GRCm39) |
K445E |
probably damaging |
Het |
|
| Other mutations in Zmynd10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02007:Zmynd10
|
APN |
9 |
107,427,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0749:Zmynd10
|
UTSW |
9 |
107,425,882 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1899:Zmynd10
|
UTSW |
9 |
107,427,236 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1900:Zmynd10
|
UTSW |
9 |
107,427,236 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4111:Zmynd10
|
UTSW |
9 |
107,426,251 (GRCm39) |
nonsense |
probably null |
|
|
R5403:Zmynd10
|
UTSW |
9 |
107,427,785 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5468:Zmynd10
|
UTSW |
9 |
107,427,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6430:Zmynd10
|
UTSW |
9 |
107,425,911 (GRCm39) |
nonsense |
probably null |
|
|
R6743:Zmynd10
|
UTSW |
9 |
107,425,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7117:Zmynd10
|
UTSW |
9 |
107,424,716 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7247:Zmynd10
|
UTSW |
9 |
107,425,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7291:Zmynd10
|
UTSW |
9 |
107,426,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8263:Zmynd10
|
UTSW |
9 |
107,426,516 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9128:Zmynd10
|
UTSW |
9 |
107,426,326 (GRCm39) |
missense |
|
|
|
R9302:Zmynd10
|
UTSW |
9 |
107,426,516 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9358:Zmynd10
|
UTSW |
9 |
107,426,249 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9763:Zmynd10
|
UTSW |
9 |
107,425,965 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
|
| Posted On |
2015-01-14 |
Incidental Mutation