Incidental Mutation 'IGL01115:4430402I18Rik'
ID53270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4430402I18Rik
Ensembl Gene ENSMUSG00000064202
Gene NameRIKEN cDNA 4430402I18 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL01115
Quality Score
Status
Chromosome19
Chromosomal Location28893042-28967800 bp(-) (GRCm38)
Type of Mutationunclassified (4289 bp from exon)
DNA Base Change (assembly) T to C at 28944442 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025872] [ENSMUST00000160542] [ENSMUST00000161813] [ENSMUST00000162110] [ENSMUST00000164777] [ENSMUST00000175647]
Predicted Effect probably benign
Transcript: ENSMUST00000025872
AA Change: R109G

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025872
Gene: ENSMUSG00000064202
AA Change: R109G

DomainStartEndE-ValueType
Pfam:SPATA6 1 91 1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160542
AA Change: R95G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124396
Gene: ENSMUSG00000064202
AA Change: R95G

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161813
Predicted Effect probably benign
Transcript: ENSMUST00000162110
AA Change: R163G

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123818
Gene: ENSMUSG00000064202
AA Change: R163G

DomainStartEndE-ValueType
Pfam:SPATA6 7 145 7.7e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164777
AA Change: R95G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132800
Gene: ENSMUSG00000064202
AA Change: R95G

DomainStartEndE-ValueType
Pfam:SPATA6 1 77 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175647
SMART Domains Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

DomainStartEndE-ValueType
Pfam:SPATA6 6 78 4.5e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,310,426 T934A probably benign Het
Ankzf1 T C 1: 75,192,615 L55P probably damaging Het
Aoc1 T C 6: 48,906,197 S336P probably damaging Het
Bmper T C 9: 23,399,689 probably benign Het
Capza2 A G 6: 17,654,123 N58S probably damaging Het
Cdca2 A G 14: 67,714,697 V75A probably damaging Het
Chmp7 A G 14: 69,721,323 S181P probably damaging Het
Colq A G 14: 31,545,128 probably benign Het
Dennd5b A G 6: 149,009,748 probably benign Het
Has3 A G 8: 106,878,688 T509A probably benign Het
Hsh2d T C 8: 72,200,619 S282P probably damaging Het
Impg2 C T 16: 56,259,440 P536S possibly damaging Het
Naip1 T A 13: 100,443,720 probably null Het
Napb T C 2: 148,707,169 Y111C probably damaging Het
Olfr1132 T C 2: 87,635,384 D121G probably damaging Het
Osmr A G 15: 6,847,201 probably benign Het
Pcdh10 A G 3: 45,392,775 T1002A probably damaging Het
Plcg2 T C 8: 117,557,329 W122R probably damaging Het
Prpf19 C T 19: 10,900,203 T204M probably damaging Het
Ptbp1 T A 10: 79,859,962 probably benign Het
Ptpre T A 7: 135,670,764 D402E probably damaging Het
Siglec1 T C 2: 131,074,502 N1176S probably benign Het
Son A G 16: 91,659,458 T1698A probably benign Het
Speer2 C T 16: 69,861,651 W42* probably null Het
Taf5 T C 19: 47,075,082 V357A probably benign Het
Tctn1 A G 5: 122,264,207 S55P probably benign Het
Tmem115 T A 9: 107,534,582 L35Q probably damaging Het
Tmem30c T A 16: 57,276,117 probably benign Het
Tmprss7 T C 16: 45,660,789 D678G probably damaging Het
Ugt1a7c A T 1: 88,095,245 Q42L probably damaging Het
Unc13b T A 4: 43,258,492 V4099E probably damaging Het
Usp36 G A 11: 118,285,960 L11F probably damaging Het
Zfp955a T A 17: 33,242,580 K193* probably null Het
Zranb2 T C 3: 157,546,691 probably benign Het
Other mutations in 4430402I18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00535:4430402I18Rik APN 19 28959673 intron probably benign
IGL01520:4430402I18Rik APN 19 28896132 splice site probably null
R1104:4430402I18Rik UTSW 19 28967632 start codon destroyed probably null 0.99
R1434:4430402I18Rik UTSW 19 28927639 splice site probably benign
R1850:4430402I18Rik UTSW 19 28939171 critical splice acceptor site probably null
R1992:4430402I18Rik UTSW 19 28948624 missense probably damaging 1.00
R4042:4430402I18Rik UTSW 19 28945783 missense possibly damaging 0.83
R4043:4430402I18Rik UTSW 19 28945783 missense possibly damaging 0.83
R4044:4430402I18Rik UTSW 19 28945783 missense possibly damaging 0.83
R4845:4430402I18Rik UTSW 19 28927748 missense probably benign
R4911:4430402I18Rik UTSW 19 28897503 critical splice donor site probably benign
R4933:4430402I18Rik UTSW 19 28941775 missense possibly damaging 0.86
R5213:4430402I18Rik UTSW 19 28963564 missense probably benign 0.22
R5396:4430402I18Rik UTSW 19 28927689 missense possibly damaging 0.66
R6898:4430402I18Rik UTSW 19 28944288 missense probably benign 0.01
Posted On2013-06-21