Incidental Mutation 'R6430:Zmynd10'
| ID |
518491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd10
|
| Ensembl Gene |
ENSMUSG00000010044 |
| Gene Name |
zinc finger, MYND domain containing 10 |
| Synonyms |
Blu |
| MMRRC Submission |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.725)
|
| Stock # |
R6430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107424497-107428518 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 107425911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 82
(K82*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010188]
[ENSMUST00000010201]
[ENSMUST00000093786]
[ENSMUST00000122225]
[ENSMUST00000156198]
[ENSMUST00000195370]
[ENSMUST00000193303]
|
| AlphaFold |
Q99ML0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010188
AA Change: K82*
|
| SMART Domains |
Protein: ENSMUSP00000010188
Gene: ENSMUSG00000010044
AA Change: K82*
| 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 |
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: ENSMUST00000192445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192951
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193628
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| 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 |
|---|
| AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- TTGGTCTAGGAACAGGGCTC -3'
(R):5'- TGTACCTGTCGAAGAGGACG -3'
Sequencing Primer
(F):5'- CAGAGCTGCCCTAAAGTGG -3'
(R):5'- TCGAAGAGGACGGGGCTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation