Incidental Mutation 'R6743:Zmynd10'
| ID |
532745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd10
|
| Ensembl Gene |
ENSMUSG00000010044 |
| Gene Name |
zinc finger, MYND domain containing 10 |
| Synonyms |
Blu |
| MMRRC Submission |
044860-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.725)
|
| Stock # |
R6743 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107424497-107428518 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107425079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 58
(I58T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010188]
[ENSMUST00000010201]
[ENSMUST00000093786]
[ENSMUST00000122225]
[ENSMUST00000156198]
[ENSMUST00000193303]
[ENSMUST00000195370]
|
| AlphaFold |
Q99ML0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010188
AA Change: I58T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
AA Change: I58T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-MYND
|
394 |
430 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010201
|
| SMART Domains |
Protein: ENSMUSP00000010201
Gene: ENSMUSG00000010057
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR2
|
5 |
279 |
1.7e-75 |
PFAM |
|
Pfam:NPR2
|
269 |
373 |
1.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
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 benign
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 |
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 |
probably benign
Transcript: ENSMUST00000193303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195370
|
| SMART Domains |
Protein: ENSMUSP00000141746
Gene: ENSMUSG00000010057
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPR2
|
2 |
156 |
1.2e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,327,321 (GRCm39) |
R339C |
possibly damaging |
Het |
| Adamts6 |
G |
A |
13: 104,565,436 (GRCm39) |
G721R |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,171,274 (GRCm39) |
V1045A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,888 (GRCm39) |
I856T |
probably benign |
Het |
| Anapc1 |
T |
A |
2: 128,526,454 (GRCm39) |
K115* |
probably null |
Het |
| Arc |
A |
G |
15: 74,543,636 (GRCm39) |
S196P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,447,562 (GRCm39) |
I768T |
possibly damaging |
Het |
| Blk |
C |
T |
14: 63,622,375 (GRCm39) |
R55H |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,005 (GRCm39) |
S168G |
probably benign |
Het |
| Cda |
G |
T |
4: 138,066,253 (GRCm39) |
T128K |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,799 (GRCm39) |
T2601S |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,013,847 (GRCm39) |
V1545A |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,309,971 (GRCm39) |
N6264K |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,718 (GRCm39) |
S191G |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,100,912 (GRCm39) |
S280T |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,343 (GRCm39) |
I63V |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,518,347 (GRCm39) |
S1040P |
unknown |
Het |
| Gm14295 |
T |
G |
2: 176,502,420 (GRCm39) |
C637G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,997 (GRCm39) |
T541A |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,042,849 (GRCm39) |
F240L |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,454,766 (GRCm39) |
I1219L |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,711,173 (GRCm39) |
Y152C |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,322,683 (GRCm39) |
A327T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,366,475 (GRCm39) |
Y553F |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,803 (GRCm39) |
|
probably null |
Het |
| Or14j1 |
A |
C |
17: 38,146,694 (GRCm39) |
D268A |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,387,957 (GRCm39) |
T8I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,918,929 (GRCm39) |
I310T |
possibly damaging |
Het |
| Pde6a |
T |
A |
18: 61,397,057 (GRCm39) |
F634L |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,370 (GRCm39) |
C1556F |
probably damaging |
Het |
| Prdm5 |
G |
A |
6: 65,860,635 (GRCm39) |
V440I |
probably damaging |
Het |
| Rasa2 |
T |
C |
9: 96,493,493 (GRCm39) |
T64A |
probably damaging |
Het |
| Sec24b |
A |
T |
3: 129,834,881 (GRCm39) |
Y106N |
probably damaging |
Het |
| Sfswap |
C |
T |
5: 129,627,883 (GRCm39) |
Q689* |
probably null |
Het |
| Slamf8 |
C |
T |
1: 172,417,965 (GRCm39) |
|
probably null |
Het |
| Tektl1 |
G |
A |
10: 78,588,726 (GRCm39) |
T28M |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,123 (GRCm39) |
K105E |
probably benign |
Het |
| Tsr1 |
T |
C |
11: 74,799,177 (GRCm39) |
V786A |
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
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 |
|
R0152:Zmynd10
|
UTSW |
9 |
107,428,144 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GGACAGGATCATGGTAGTCTTC -3'
(R):5'- TCCACTGAGGGTACAATAGGAAATG -3'
Sequencing Primer
(F):5'- GGTAGTCTTCAGTAGGATCCAACC -3'
(R):5'- ATGTAGCCAGCCAGGTACAGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation