Incidental Mutation 'IGL01086:Zmat2'
ID 53159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmat2
Ensembl Gene ENSMUSG00000001383
Gene Name zinc finger, matrin type 2
Synonyms 2610510D14Rik, 2900082I05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.801) question?
Stock # IGL01086
Quality Score
Status
Chromosome 18
Chromosomal Location 36926976-36932713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36929163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 104 (H104Y)
Ref Sequence ENSEMBL: ENSMUSP00000001419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001419] [ENSMUST00000019287] [ENSMUST00000152954]
AlphaFold Q9CPW7
Predicted Effect probably damaging
Transcript: ENSMUST00000001419
AA Change: H104Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001419
Gene: ENSMUSG00000001383
AA Change: H104Y

DomainStartEndE-ValueType
ZnF_U1 77 111 2.41e-11 SMART
ZnF_C2H2 80 104 5.48e0 SMART
coiled coil region 118 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000019287
SMART Domains Protein: ENSMUSP00000019287
Gene: ENSMUSG00000019143

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:tRNA-synt_His 61 313 1.3e-23 PFAM
Pfam:tRNA-synt_2b 72 234 2.8e-21 PFAM
Pfam:HGTP_anticodon2 324 424 2.7e-8 PFAM
Pfam:HGTP_anticodon 329 420 2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124204
Predicted Effect probably benign
Transcript: ENSMUST00000152954
SMART Domains Protein: ENSMUSP00000117231
Gene: ENSMUSG00000019143

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:tRNA-synt_His 61 389 1e-38 PFAM
Pfam:HGTP_anticodon 410 501 1.8e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,729 (GRCm39) R104S probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Aim2 A G 1: 173,282,999 (GRCm39) Y27C probably damaging Het
Apol7b T C 15: 77,308,114 (GRCm39) E127G probably damaging Het
Atp10a T C 7: 58,474,066 (GRCm39) F1118L probably damaging Het
Cacna1e T C 1: 154,347,347 (GRCm39) D940G probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Clip4 G A 17: 72,131,789 (GRCm39) V376I probably benign Het
Cmklr2 T C 1: 63,222,650 (GRCm39) E195G probably benign Het
Coro6 C A 11: 77,357,374 (GRCm39) C194* probably null Het
Crebbp T C 16: 3,997,416 (GRCm39) M223V probably benign Het
Dkk4 T A 8: 23,116,857 (GRCm39) C157S probably damaging Het
Dnah14 T C 1: 181,579,611 (GRCm39) L3048S probably benign Het
Dscaml1 T C 9: 45,613,960 (GRCm39) probably benign Het
Gria2 T C 3: 80,599,688 (GRCm39) Y732C probably damaging Het
Igkv4-59 T C 6: 69,415,707 (GRCm39) I7V probably benign Het
Lamc3 T C 2: 31,788,488 (GRCm39) F216S probably damaging Het
Lcn6 T C 2: 25,570,792 (GRCm39) F61L probably benign Het
Nup205 T A 6: 35,185,871 (GRCm39) probably benign Het
Or5w18 T A 2: 87,633,544 (GRCm39) Y266* probably null Het
Otof C T 5: 30,533,617 (GRCm39) probably null Het
Pik3c2b T C 1: 133,019,356 (GRCm39) C1035R probably damaging Het
Pla1a T C 16: 38,227,984 (GRCm39) N298D probably benign Het
Poteg T A 8: 27,963,648 (GRCm39) probably benign Het
Pwp1 T C 10: 85,715,757 (GRCm39) probably null Het
Scel A G 14: 103,849,827 (GRCm39) I631V probably benign Het
Scn3a T A 2: 65,300,503 (GRCm39) M1288L probably benign Het
Serpina11 T A 12: 103,952,329 (GRCm39) D147V probably damaging Het
Shroom3 T A 5: 93,096,311 (GRCm39) C1266S probably benign Het
Slc12a7 A G 13: 73,962,962 (GRCm39) Y1054C probably damaging Het
Srms A G 2: 180,854,216 (GRCm39) V117A probably damaging Het
Tmem161b T C 13: 84,370,541 (GRCm39) probably benign Het
Tmem94 A T 11: 115,681,110 (GRCm39) T158S probably benign Het
Tomm40l T C 1: 171,047,878 (GRCm39) probably null Het
Traf6 A G 2: 101,515,128 (GRCm39) I95V probably benign Het
Ttc13 A G 8: 125,402,085 (GRCm39) I686T probably damaging Het
Other mutations in Zmat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02418:Zmat2 APN 18 36,927,392 (GRCm39) missense probably damaging 0.99
IGL03094:Zmat2 APN 18 36,929,119 (GRCm39) missense probably damaging 1.00
3-1:Zmat2 UTSW 18 36,929,693 (GRCm39) missense possibly damaging 0.89
R5551:Zmat2 UTSW 18 36,927,010 (GRCm39) missense probably benign 0.03
R7063:Zmat2 UTSW 18 36,929,627 (GRCm39) missense probably null 0.64
R9511:Zmat2 UTSW 18 36,930,958 (GRCm39) missense possibly damaging 0.93
RF007:Zmat2 UTSW 18 36,930,936 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21