Incidental Mutation 'R3612:Zmynd19'
| ID |
269248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmynd19
|
| Ensembl Gene |
ENSMUSG00000026974 |
| Gene Name |
zinc finger, MYND domain containing 19 |
| Synonyms |
2700064H14Rik |
| MMRRC Submission |
040672-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24839789-24850882 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24841492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 20
(Y20C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028350]
[ENSMUST00000148042]
|
| AlphaFold |
Q9CQG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028350
AA Change: Y20C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028350
Gene: ENSMUSG00000026974
AA Change: Y20C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNH_3
|
66 |
105 |
1.9e-10 |
PFAM |
|
Pfam:zf-MYND
|
167 |
212 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148042
|
| SMART Domains |
Protein: ENSMUSP00000141788
Gene: ENSMUSG00000026974
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNH_3
|
27 |
66 |
1.4e-10 |
PFAM |
|
Pfam:zf-MYND
|
124 |
173 |
5e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.6036 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,251 (GRCm39) |
V192A |
probably damaging |
Het |
| Acsm2 |
G |
C |
7: 119,190,553 (GRCm39) |
V90L |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,308,105 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,290,542 (GRCm39) |
D1630E |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,905,332 (GRCm39) |
I1085N |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,270,256 (GRCm39) |
|
probably benign |
Het |
| Cdh19 |
A |
T |
1: 110,821,026 (GRCm39) |
C571S |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,443 (GRCm39) |
L1491* |
probably null |
Het |
| Cherp |
G |
A |
8: 73,215,840 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,274,893 (GRCm39) |
S188G |
probably null |
Het |
| Ech1 |
C |
T |
7: 28,529,668 (GRCm39) |
R34C |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,499,134 (GRCm39) |
S337P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fah |
A |
G |
7: 84,234,498 (GRCm39) |
V412A |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,473,545 (GRCm39) |
E131D |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,337 (GRCm39) |
V130A |
possibly damaging |
Het |
| Gm4782 |
T |
A |
6: 50,585,610 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,206 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo15a |
G |
C |
11: 60,368,505 (GRCm39) |
D422H |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,961,653 (GRCm39) |
H360Q |
probably damaging |
Het |
| Or1e22 |
T |
C |
11: 73,376,766 (GRCm39) |
R295G |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,443,627 (GRCm39) |
N528S |
probably benign |
Het |
| Rprd2 |
G |
A |
3: 95,671,464 (GRCm39) |
P1313L |
probably damaging |
Het |
| Slc12a7 |
C |
A |
13: 73,958,042 (GRCm39) |
D955E |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,758,218 (GRCm39) |
|
probably null |
Het |
| Tex24 |
T |
A |
8: 27,835,201 (GRCm39) |
V243D |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,463 (GRCm39) |
T505A |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,997,977 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zmynd19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01905:Zmynd19
|
APN |
2 |
24,841,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
watson
|
UTSW |
2 |
24,848,201 (GRCm39) |
nonsense |
probably null |
|
|
R0432:Zmynd19
|
UTSW |
2 |
24,848,134 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1531:Zmynd19
|
UTSW |
2 |
24,848,123 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2130:Zmynd19
|
UTSW |
2 |
24,842,648 (GRCm39) |
nonsense |
probably null |
|
|
R2408:Zmynd19
|
UTSW |
2 |
24,848,937 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4595:Zmynd19
|
UTSW |
2 |
24,849,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Zmynd19
|
UTSW |
2 |
24,848,201 (GRCm39) |
nonsense |
probably null |
|
|
R6133:Zmynd19
|
UTSW |
2 |
24,848,131 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9613:Zmynd19
|
UTSW |
2 |
24,848,217 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTGGTACATGTGGTCAT -3'
(R):5'- GTTGTCACAACCTGCTCTGGA -3'
Sequencing Primer
(F):5'- TTAAAGGTGTGCGCTACCAC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation