Incidental Mutation 'IGL01656:4732456N10Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4732456N10Rik
Ensembl Gene ENSMUSG00000048699
Gene NameRIKEN cDNA 4732456N10 gene
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01656
Quality Score
Chromosomal Location101552356-101562950 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101555443 bp
Amino Acid Change Glutamine to Leucine at position 392 (Q392L)
Ref Sequence ENSEMBL: ENSMUSP00000023714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713] [ENSMUST00000023714]
Predicted Effect probably benign
Transcript: ENSMUST00000023713
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548

low complexity region 38 57 N/A INTRINSIC
Pfam:Keratin_2_head 61 114 6.1e-13 PFAM
Filament 117 428 1.32e-153 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000023714
AA Change: Q392L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023714
Gene: ENSMUSG00000048699
AA Change: Q392L

Pfam:Keratin_2_head 16 139 3.1e-24 PFAM
Filament 142 453 1.05e-179 SMART
low complexity region 465 522 N/A INTRINSIC
low complexity region 527 535 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197418
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit partial prenatal lethality and thickened long toenails. An increased caudal vertebrae number is observed in some mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A G 6: 96,165,694 V123A possibly damaging Het
Acrbp A C 6: 125,053,712 E232A possibly damaging Het
Anapc11 T A 11: 120,599,347 F30I possibly damaging Het
Ap5z1 A G 5: 142,470,314 D318G probably benign Het
Cfap43 T C 19: 47,751,900 E1278G possibly damaging Het
Cylc1 A G X: 111,123,716 T589A probably benign Het
Dcaf15 T C 8: 84,097,988 I527V probably benign Het
Ddhd2 C T 8: 25,727,712 V713I probably benign Het
Edc4 T C 8: 105,886,377 V283A possibly damaging Het
Elf5 A G 2: 103,442,861 probably benign Het
Flnb C T 14: 7,902,010 probably benign Het
Flnc C T 6: 29,443,508 probably benign Het
Fstl4 T C 11: 53,000,374 L113P probably damaging Het
Gemin4 C T 11: 76,213,810 V42M probably damaging Het
Gm10076 A G 14: 105,681,920 noncoding transcript Het
Grina A G 15: 76,248,301 Y116C probably damaging Het
Hectd4 T A 5: 121,322,700 L914H probably damaging Het
Il17re T C 6: 113,462,973 probably benign Het
Ivl G A 3: 92,571,655 Q368* probably null Het
Kbtbd8 A G 6: 95,118,676 H73R probably benign Het
Magea3 A T X: 154,949,141 M122K probably damaging Het
Mapk8ip3 T C 17: 24,918,029 D237G probably damaging Het
Nln T C 13: 104,061,741 probably null Het
Nlrp4d T C 7: 10,364,147 Y853C noncoding transcript Het
Nol11 T C 11: 107,189,172 D29G probably benign Het
Nr3c2 C T 8: 77,187,537 L791F probably damaging Het
Olfm3 T C 3: 115,122,633 Y385H probably damaging Het
Olfr126 C T 17: 37,851,138 P182L possibly damaging Het
Olfr1475 G A 19: 13,480,090 A36V probably benign Het
Olfr570 A G 7: 102,901,265 I299M possibly damaging Het
Pklr G T 3: 89,144,995 G505C probably damaging Het
Plxna2 A G 1: 194,790,161 E1071G possibly damaging Het
Prkcq G T 2: 11,226,955 A30S probably damaging Het
Rilpl1 A G 5: 124,503,649 F104L probably damaging Het
Rsph6a C T 7: 19,054,845 T34I probably benign Het
Sec23ip C T 7: 128,750,245 P12L probably damaging Het
Slc25a21 A C 12: 56,738,495 V199G probably damaging Het
Smc1b T C 15: 85,114,776 E483G probably damaging Het
Sucnr1 T C 3: 60,086,411 M120T possibly damaging Het
Tas2r116 T C 6: 132,855,433 probably benign Het
Tbrg4 T A 11: 6,618,522 Q419L possibly damaging Het
Tc2n A G 12: 101,649,089 probably benign Het
Tgfbr2 A C 9: 116,109,669 S388R probably damaging Het
Vmn2r1 A G 3: 64,081,853 E71G probably damaging Het
Xpc A T 6: 91,505,467 I176K probably damaging Het
Xylt1 G T 7: 117,548,993 R264L probably damaging Het
Other mutations in 4732456N10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:4732456N10Rik APN 15 101562629 missense probably benign 0.06
IGL02064:4732456N10Rik APN 15 101562653 missense possibly damaging 0.54
Posted On2014-01-21