Incidental Mutation 'IGL00264:3110002H16Rik'
ID5732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 3110002H16Rik
Ensembl Gene ENSMUSG00000024410
Gene NameRIKEN cDNA 3110002H16 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.779) question?
Stock #IGL00264
Quality Score
Status
Chromosome18
Chromosomal Location12168717-12189997 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12179219 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000025276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025276] [ENSMUST00000134046] [ENSMUST00000138866]
Predicted Effect probably benign
Transcript: ENSMUST00000025276
AA Change: V172A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: V172A

DomainStartEndE-ValueType
SCOP:d1crza1 21 169 5e-4 SMART
low complexity region 268 281 N/A INTRINSIC
Pfam:Mic1 475 632 4.4e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127123
Predicted Effect probably benign
Transcript: ENSMUST00000134046
SMART Domains Protein: ENSMUSP00000118783
Gene: ENSMUSG00000024410

DomainStartEndE-ValueType
low complexity region 58 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138866
SMART Domains Protein: ENSMUSP00000121414
Gene: ENSMUSG00000024410

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155431
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Arhgef9 T C X: 95,081,631 probably null Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Bpifc A C 10: 85,960,528 V472G possibly damaging Het
Ccdc71 T A 9: 108,463,038 S17T probably damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ereg C A 5: 91,074,779 S7Y probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Rdh14 G T 12: 10,391,134 G99W probably damaging Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Zfp521 A G 18: 13,846,502 Y285H probably benign Het
Other mutations in 3110002H16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:3110002H16Rik APN 18 12178239 missense probably benign 0.03
IGL01956:3110002H16Rik APN 18 12189350 missense probably damaging 0.99
IGL02828:3110002H16Rik APN 18 12189221 missense possibly damaging 0.52
IGL03147:3110002H16Rik APN 18 12169229 splice site probably benign
R0147:3110002H16Rik UTSW 18 12189271 missense probably damaging 0.99
R0357:3110002H16Rik UTSW 18 12179209 missense possibly damaging 0.87
R1108:3110002H16Rik UTSW 18 12181623 missense probably damaging 0.99
R1422:3110002H16Rik UTSW 18 12181623 missense probably damaging 0.99
R1939:3110002H16Rik UTSW 18 12180505 missense probably damaging 1.00
R4300:3110002H16Rik UTSW 18 12188862 missense probably benign 0.00
R4826:3110002H16Rik UTSW 18 12185779 intron probably benign
R5103:3110002H16Rik UTSW 18 12189262 missense probably benign
R5345:3110002H16Rik UTSW 18 12179177 missense probably benign
R5506:3110002H16Rik UTSW 18 12188956 unclassified probably benign
R5566:3110002H16Rik UTSW 18 12180692 missense possibly damaging 0.90
R5574:3110002H16Rik UTSW 18 12185006 frame shift probably null
R5632:3110002H16Rik UTSW 18 12171583 missense possibly damaging 0.63
R6331:3110002H16Rik UTSW 18 12180514 missense probably damaging 0.99
R6765:3110002H16Rik UTSW 18 12176146 missense possibly damaging 0.82
R6978:3110002H16Rik UTSW 18 12185747 missense probably benign
R7310:3110002H16Rik UTSW 18 12184915 missense probably benign 0.13
R7734:3110002H16Rik UTSW 18 12189263 missense possibly damaging 0.81
R7792:3110002H16Rik UTSW 18 12181599 missense probably damaging 1.00
R7830:3110002H16Rik UTSW 18 12168871 missense probably benign 0.16
R7885:3110002H16Rik UTSW 18 12189314 missense probably damaging 1.00
R7968:3110002H16Rik UTSW 18 12189314 missense probably damaging 1.00
R8047:3110002H16Rik UTSW 18 12180529 missense possibly damaging 0.67
X0062:3110002H16Rik UTSW 18 12179519 missense probably damaging 1.00
Posted On2012-04-20