Incidental Mutation 'IGL01956:3110002H16Rik'
ID181104
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: 0.778) question?
Stock #IGL01956
Quality Score
Status
Chromosome18
Chromosomal Location12168717-12189997 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12189350 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 620 (N620S)
Ref Sequence ENSEMBL: ENSMUSP00000025276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025276] [ENSMUST00000025279] [ENSMUST00000134046] [ENSMUST00000138866]
Predicted Effect probably damaging
Transcript: ENSMUST00000025276
AA Change: N620S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025276
Gene: ENSMUSG00000024410
AA Change: N620S

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 probably benign
Transcript: ENSMUST00000025279
SMART Domains Protein: ENSMUSP00000025279
Gene: ENSMUSG00000024413

DomainStartEndE-ValueType
low complexity region 8 15 N/A INTRINSIC
Pfam:NPC1_N 22 267 1.6e-79 PFAM
transmembrane domain 269 291 N/A INTRINSIC
transmembrane domain 353 375 N/A INTRINSIC
Pfam:Patched 436 896 3.5e-52 PFAM
Pfam:MMPL 648 794 6.3e-8 PFAM
Pfam:Sterol-sensing 649 803 2.7e-56 PFAM
Pfam:Patched 1023 1252 2.9e-33 PFAM
low complexity region 1259 1273 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000134756
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: ENSMUST00000139151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153233
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153352
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 C T 5: 89,677,911 G1022D probably damaging Het
Adgrv1 T C 13: 81,446,430 H4155R possibly damaging Het
Akna A T 4: 63,379,290 D842E probably benign Het
Cacng5 T C 11: 107,882,909 E88G possibly damaging Het
Ccdc36 T C 9: 108,417,319 probably benign Het
Fbxw18 G A 9: 109,693,357 P148L probably damaging Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Myo5c A G 9: 75,242,876 probably null Het
Nudcd1 A G 15: 44,400,216 Y277H probably damaging Het
Nvl A G 1: 181,134,944 S154P probably benign Het
Olfr776 T A 10: 129,261,042 I27N possibly damaging Het
Pah G A 10: 87,538,199 E76K probably benign Het
Peli1 T A 11: 21,148,501 I412N probably damaging Het
Slc18a2 T C 19: 59,287,176 probably benign Het
Stx1a T C 5: 135,037,469 probably benign Het
Syne2 G A 12: 76,097,974 D1566N probably damaging Het
Syt7 G T 19: 10,443,391 E433D probably benign Het
Tas2r102 G A 6: 132,762,453 W108* probably null Het
Trappc11 A G 8: 47,528,001 V135A possibly damaging Het
Unk T C 11: 116,056,334 S598P probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp729a A T 13: 67,621,686 H141Q probably damaging Het
Other mutations in 3110002H16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:3110002H16Rik APN 18 12179219 missense probably benign 0.00
IGL01883:3110002H16Rik APN 18 12178239 missense probably benign 0.03
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
R8047:3110002H16Rik UTSW 18 12180529 missense possibly damaging 0.67
R8144:3110002H16Rik UTSW 18 12185647 critical splice acceptor site probably null
R8157:3110002H16Rik UTSW 18 12188633 missense possibly damaging 0.95
R8870:3110002H16Rik UTSW 18 12188561 missense probably benign
X0062:3110002H16Rik UTSW 18 12179519 missense probably damaging 1.00
Posted On2014-05-07