Incidental Mutation 'R6133:Zmynd19'
ID 487222
Institutional Source Beutler Lab
Gene Symbol Zmynd19
Ensembl Gene ENSMUSG00000026974
Gene Name zinc finger, MYND domain containing 19
Synonyms 2700064H14Rik
MMRRC Submission 044280-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6133 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 24839789-24850882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24848131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 148 (R148L)
Ref Sequence ENSEMBL: ENSMUSP00000028350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028350] [ENSMUST00000028351] [ENSMUST00000124383] [ENSMUST00000126909] [ENSMUST00000135339] [ENSMUST00000143253] [ENSMUST00000148042] [ENSMUST00000153375]
AlphaFold Q9CQG3
Predicted Effect possibly damaging
Transcript: ENSMUST00000028350
AA Change: R148L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028350
Gene: ENSMUSG00000026974
AA Change: R148L

DomainStartEndE-ValueType
Pfam:HNH_3 66 105 1.9e-10 PFAM
Pfam:zf-MYND 167 212 1.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028351
SMART Domains Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975

DomainStartEndE-ValueType
Blast:WD40 74 118 3e-10 BLAST
Blast:WD40 128 175 3e-15 BLAST
WD40 183 223 7.43e-1 SMART
WD40 227 267 1.08e-4 SMART
WD40 271 310 1.37e2 SMART
WD40 420 455 1.97e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124383
Predicted Effect probably benign
Transcript: ENSMUST00000126909
Predicted Effect probably benign
Transcript: ENSMUST00000135339
SMART Domains Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143253
SMART Domains Protein: ENSMUSP00000142315
Gene: ENSMUSG00000026975

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146382
Predicted Effect probably benign
Transcript: ENSMUST00000148042
AA Change: R109L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141788
Gene: ENSMUSG00000026974
AA Change: R109L

DomainStartEndE-ValueType
Pfam:HNH_3 27 66 1.4e-10 PFAM
Pfam:zf-MYND 124 173 5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153375
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (47/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 A G 8: 89,052,067 (GRCm39) T912A possibly damaging Het
Akap12 G T 10: 4,305,178 (GRCm39) G663C probably benign Het
Ankhd1 T C 18: 36,758,179 (GRCm39) S958P possibly damaging Het
Cmtm2a T C 8: 105,019,362 (GRCm39) I76V probably benign Het
Cpxm2 G A 7: 131,730,182 (GRCm39) P146S probably damaging Het
Cubn A G 2: 13,313,429 (GRCm39) V3047A probably benign Het
Dgkd T A 1: 87,865,962 (GRCm39) V198E possibly damaging Het
Dnah3 A T 7: 119,685,469 (GRCm39) M181K probably benign Het
Dnah7a T C 1: 53,458,814 (GRCm39) T3775A probably benign Het
Dsg2 A G 18: 20,723,146 (GRCm39) I391V probably benign Het
Ebi3 T A 17: 56,261,311 (GRCm39) V69E probably benign Het
Fn1 T C 1: 71,636,886 (GRCm39) T1998A probably damaging Het
Frmpd1 T A 4: 45,284,915 (GRCm39) H1245Q probably benign Het
Gm7145 T A 1: 117,913,618 (GRCm39) C167S probably damaging Het
Hydin C T 8: 111,327,908 (GRCm39) T4805I probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnma1 C T 14: 24,053,936 (GRCm39) M21I probably damaging Het
Lrfn5 A G 12: 61,890,574 (GRCm39) D621G probably benign Het
Lrrc15 C T 16: 30,093,054 (GRCm39) G95D probably benign Het
Mex3d A G 10: 80,222,620 (GRCm39) L212P probably damaging Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Naip1 A G 13: 100,581,151 (GRCm39) V32A probably benign Het
Nsl1 T C 1: 190,803,403 (GRCm39) L158P probably damaging Het
Or51q1c A T 7: 103,652,532 (GRCm39) T17S possibly damaging Het
Or6c202 G A 10: 128,996,752 (GRCm39) L34F possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pakap C T 4: 57,855,516 (GRCm39) Q525* probably null Het
Pcdh15 A T 10: 74,481,805 (GRCm39) probably null Het
Pramel15 T C 4: 144,104,347 (GRCm39) R53G possibly damaging Het
Ptpn1 T C 2: 167,809,716 (GRCm39) V108A possibly damaging Het
Rad9b T C 5: 122,477,831 (GRCm39) N182D possibly damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scn2a G A 2: 65,573,448 (GRCm39) V1433I probably benign Het
Ssrp1 T G 2: 84,875,683 (GRCm39) probably benign Het
Suco T A 1: 161,662,752 (GRCm39) K560* probably null Het
Tbx3 T C 5: 119,819,018 (GRCm39) V531A probably benign Het
Tmem30c T C 16: 57,098,100 (GRCm39) Y107C probably damaging Het
Topbp1 T A 9: 103,188,963 (GRCm39) probably null Het
Trpm5 A T 7: 142,642,688 (GRCm39) D86E probably damaging Het
Urb2 C T 8: 124,755,300 (GRCm39) Q336* probably null Het
Vmn2r43 A G 7: 8,247,970 (GRCm39) F731S probably damaging Het
Xkr9 A G 1: 13,754,359 (GRCm39) T118A probably benign Het
Zcchc2 A C 1: 105,947,609 (GRCm39) K117N probably damaging Het
Zfp52 T C 17: 21,780,733 (GRCm39) Y194H probably damaging Het
Zfp763 C T 17: 33,237,675 (GRCm39) C490Y possibly damaging Het
Other mutations in Zmynd19
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3612:Zmynd19 UTSW 2 24,841,492 (GRCm39) missense probably damaging 1.00
R4595:Zmynd19 UTSW 2 24,849,000 (GRCm39) missense probably damaging 1.00
R5165:Zmynd19 UTSW 2 24,848,201 (GRCm39) nonsense probably null
R9613:Zmynd19 UTSW 2 24,848,217 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTCTCAAAACTGGGCGGAAC -3'
(R):5'- TTAGTGACTCACCCAATGCTACC -3'

Sequencing Primer
(F):5'- CTCAAAACTGGGCGGAACTTACTTG -3'
(R):5'- TGCTACCTAGGAGTCTACAGG -3'
Posted On 2017-10-10