Incidental Mutation 'IGL00922:2210016L21Rik'
ID 27424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2210016L21Rik
Ensembl Gene ENSMUSG00000029559
Gene Name RIKEN cDNA 2210016L21 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.027) question?
Stock # IGL00922
Quality Score
Status
Chromosome 5
Chromosomal Location 115080213-115086610 bp(+) (GRCm39)
Type of Mutation splice site (1803 bp from exon)
DNA Base Change (assembly) T to C at 115085236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031535] [ENSMUST00000031538] [ENSMUST00000176911]
AlphaFold no structure available at present
PDB Structure CRYSTAL STRUCTURE OF A COMPLEX BETWEEN THE DIMERIZATION DOMAIN OF HNF-1 ALPHA AND THE COACTIVATOR DCOH [X-RAY DIFFRACTION]
HNF-1ALPHA DIMERIZATION DOMAIN, WITH SELENOMETHIONINE SUBSTITUED AT LEU 12 [X-RAY DIFFRACTION]
DIMERIZATION DOMAIN OF HNF-1ALPHA WITH A LEU 13 SELENOMETHIONINE SUBSTITUTION [X-RAY DIFFRACTION]
WILD-TYPE HNF-1ALPHA DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
Crystal Structure of Dimerization Domain (1-33) of HNF-1alpha [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000031535
SMART Domains Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556

DomainStartEndE-ValueType
Pfam:HNF-1_N 8 168 4e-57 PFAM
HOX 199 282 1.85e-7 SMART
low complexity region 288 297 N/A INTRINSIC
Blast:HOX 394 439 7e-20 BLAST
Pfam:HNF-1A_C 540 627 3.4e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000031538
AA Change: F127L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031538
Gene: ENSMUSG00000029559
AA Change: F127L

DomainStartEndE-ValueType
low complexity region 5 19 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
low complexity region 150 158 N/A INTRINSIC
low complexity region 182 206 N/A INTRINSIC
low complexity region 229 237 N/A INTRINSIC
low complexity region 240 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131427
Predicted Effect probably benign
Transcript: ENSMUST00000131771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147743
Predicted Effect probably benign
Transcript: ENSMUST00000176911
SMART Domains Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556

DomainStartEndE-ValueType
Pfam:HNF-1_N 1 118 6.4e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,789,398 (GRCm39) M1518K probably damaging Het
Baiap2l1 C T 5: 144,255,777 (GRCm39) G59D probably damaging Het
BC051019 C A 7: 109,319,883 (GRCm39) C60F probably benign Het
Brms1l A G 12: 55,892,111 (GRCm39) Y135C probably benign Het
Cachd1 T A 4: 100,824,163 (GRCm39) S535T probably benign Het
Chkb C T 15: 89,306,491 (GRCm39) probably null Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Cobl T A 11: 12,204,866 (GRCm39) D605V probably damaging Het
Ddx54 T A 5: 120,761,875 (GRCm39) probably null Het
Dnah6 A T 6: 73,010,509 (GRCm39) probably benign Het
Dnaja2 A T 8: 86,281,866 (GRCm39) V4E probably damaging Het
Dnajc22 T G 15: 98,999,460 (GRCm39) L215R possibly damaging Het
Drc7 G A 8: 95,804,606 (GRCm39) V874I probably benign Het
Foxa2 A C 2: 147,886,738 (GRCm39) S26A possibly damaging Het
Gal A T 19: 3,461,575 (GRCm39) V70E probably benign Het
Gjb4 T C 4: 127,245,146 (GRCm39) Y265C probably benign Het
Hc A G 2: 34,881,680 (GRCm39) S1423P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kash5 T C 7: 44,834,730 (GRCm39) E532G possibly damaging Het
Map3k6 C T 4: 132,970,355 (GRCm39) probably benign Het
Matn1 A T 4: 130,680,285 (GRCm39) Q454L probably benign Het
Mlxip A T 5: 123,578,128 (GRCm39) N148I probably damaging Het
Mre11a T C 9: 14,710,884 (GRCm39) F193L probably damaging Het
Myo1h T C 5: 114,498,546 (GRCm39) Y881H probably damaging Het
Nphp4 C T 4: 152,621,766 (GRCm39) probably benign Het
Or6c3b T G 10: 129,527,323 (GRCm39) I196L probably benign Het
Ptpn13 T A 5: 103,735,954 (GRCm39) V2151D probably damaging Het
Rnf141 T C 7: 110,432,941 (GRCm39) probably benign Het
Rpe65 A C 3: 159,320,179 (GRCm39) D277A probably damaging Het
Sec14l1 C T 11: 117,044,055 (GRCm39) T521M possibly damaging Het
Slc25a30 A T 14: 76,007,038 (GRCm39) Y153N probably damaging Het
Slc6a12 C T 6: 121,337,414 (GRCm39) A366V probably damaging Het
Trp53bp1 T A 2: 121,038,963 (GRCm39) T1367S probably damaging Het
Vmn2r71 T G 7: 85,267,901 (GRCm39) S118R probably benign Het
Other mutations in 2210016L21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2210:2210016L21Rik UTSW 5 115,080,348 (GRCm39) missense probably damaging 1.00
R7973:2210016L21Rik UTSW 5 115,084,112 (GRCm39) missense probably benign 0.03
Posted On 2013-04-17