Incidental Mutation 'IGL03094:Zmat2'
ID418480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmat2
Ensembl Gene ENSMUSG00000001383
Gene Namezinc finger, matrin type 2
Synonyms2900082I05Rik, 2610510D14Rik
Accession Numbers

Genbank: NM_025594

Is this an essential gene? Probably essential (E-score: 0.801) question?
Stock #IGL03094
Quality Score
Status
Chromosome18
Chromosomal Location36793923-36799660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 36796066 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 89 (V89G)
Ref Sequence ENSEMBL: ENSMUSP00000001419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001419] [ENSMUST00000019287] [ENSMUST00000152954]
Predicted Effect probably damaging
Transcript: ENSMUST00000001419
AA Change: V89G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001419
Gene: ENSMUSG00000001383
AA Change: V89G

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,184,112 N1375S probably benign Het
Adamts15 A T 9: 30,904,472 probably benign Het
Ahnak G A 19: 9,003,547 V732M possibly damaging Het
Akr1c19 G A 13: 4,236,185 V61I probably benign Het
BC025920 C A 10: 81,609,072 R10S probably benign Het
Cdh11 T C 8: 102,658,403 I347V probably benign Het
Cyp11b2 A G 15: 74,853,037 probably null Het
Cyp4a31 T A 4: 115,578,108 probably benign Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Glra3 C A 8: 56,125,172 H421Q probably benign Het
Gtf2f1 T C 17: 57,007,049 N145S probably damaging Het
Hsd17b12 A T 2: 94,033,994 V256E probably damaging Het
Ighv1-34 C T 12: 114,851,338 G68E probably damaging Het
Ipo5 T C 14: 120,943,677 probably benign Het
Knop1 T A 7: 118,853,151 D63V possibly damaging Het
Krt39 T C 11: 99,520,802 probably benign Het
Ldhb T C 6: 142,505,527 K5R probably benign Het
Loxhd1 A T 18: 77,431,113 I1872F possibly damaging Het
Lrfn5 A G 12: 61,839,746 N107D probably benign Het
Mks1 A G 11: 87,855,465 probably benign Het
Nup93 C T 8: 94,296,502 T236I probably benign Het
Olfr1357 A G 10: 78,612,119 I174T possibly damaging Het
Olig3 T C 10: 19,357,130 S168P probably benign Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Per3 A C 4: 151,009,298 I1020R probably damaging Het
Plbd2 T C 5: 120,486,780 N441S probably damaging Het
Plec A G 15: 76,191,319 S398P probably damaging Het
Ppm1m T G 9: 106,196,411 K314T probably damaging Het
Prmt2 T A 10: 76,210,390 probably benign Het
Rbm19 T C 5: 120,122,958 S216P probably damaging Het
Sart1 A G 19: 5,384,081 probably benign Het
Tmem225 A T 9: 40,148,386 I21L possibly damaging Het
Tnnt2 T C 1: 135,849,462 probably null Het
Trappc10 A T 10: 78,228,920 probably benign Het
Trip13 A G 13: 73,932,956 L97P probably benign Het
Other mutations in Zmat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Zmat2 APN 18 36796110 missense probably damaging 1.00
IGL02418:Zmat2 APN 18 36794339 missense probably damaging 0.99
3-1:Zmat2 UTSW 18 36796640 missense possibly damaging 0.89
R5551:Zmat2 UTSW 18 36793957 missense probably benign 0.03
R7063:Zmat2 UTSW 18 36796574 missense probably null 0.64
RF007:Zmat2 UTSW 18 36797883 missense probably damaging 0.99
Posted On2016-08-02