Incidental Mutation 'IGL02370:Itih5'
ID 290890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itih5
Ensembl Gene ENSMUSG00000025780
Gene Name inter-alpha-trypsin inhibitor, heavy chain 5
Synonyms 4631408O11Rik, 5430408M01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL02370
Quality Score
Status
Chromosome 2
Chromosomal Location 10158382-10261340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10191786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 107 (Y107F)
Ref Sequence ENSEMBL: ENSMUSP00000026886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026886]
AlphaFold Q8BJD1
Predicted Effect probably benign
Transcript: ENSMUST00000026886
AA Change: Y107F

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: Y107F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 30 45 N/A INTRINSIC
Pfam:VIT 51 159 5.5e-27 PFAM
VWA 293 476 5.84e-24 SMART
Pfam:ITI_HC_C 716 909 1.7e-60 PFAM
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 heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732471J01Rik T C 7: 25,084,313 (GRCm39) probably benign Het
Abra T C 15: 41,732,640 (GRCm39) D142G probably damaging Het
Aldh9a1 A G 1: 167,184,101 (GRCm39) N199D probably damaging Het
Baz2b A T 2: 59,753,933 (GRCm39) I1130N possibly damaging Het
Cacna1s A G 1: 136,013,085 (GRCm39) I312V probably damaging Het
Chrd A G 16: 20,554,541 (GRCm39) M367V possibly damaging Het
Clec12a C T 6: 129,331,539 (GRCm39) A160V possibly damaging Het
Cnnm1 T C 19: 43,460,389 (GRCm39) probably null Het
Cntnap3 A T 13: 64,899,565 (GRCm39) M976K probably benign Het
Cyp27b1 T C 10: 126,886,543 (GRCm39) probably benign Het
Ddx54 T A 5: 120,757,852 (GRCm39) L226Q probably damaging Het
Dnah7a A G 1: 53,674,556 (GRCm39) V407A probably benign Het
Elp4 A G 2: 105,624,937 (GRCm39) S201P probably damaging Het
Exoc3 A T 13: 74,340,880 (GRCm39) V308D probably benign Het
Exosc3 A G 4: 45,319,671 (GRCm39) I117T probably damaging Het
Gbx2 A T 1: 89,856,871 (GRCm39) probably benign Het
Hnf1b A C 11: 83,773,559 (GRCm39) T253P possibly damaging Het
Inhca A G 9: 103,140,273 (GRCm39) V482A probably benign Het
Kcnb2 A G 1: 15,781,159 (GRCm39) N677S probably benign Het
Knstrn T A 2: 118,654,269 (GRCm39) probably null Het
Lin9 G T 1: 180,515,583 (GRCm39) C451F probably damaging Het
Mast1 A C 8: 85,638,883 (GRCm39) V1482G probably benign Het
Mroh4 A G 15: 74,497,390 (GRCm39) F144L probably benign Het
Myrf T C 19: 10,191,504 (GRCm39) N945D probably benign Het
Nfrkb G A 9: 31,300,308 (GRCm39) G33D probably benign Het
Or5m9b C A 2: 85,905,132 (GRCm39) T16K probably damaging Het
P2ry13 T C 3: 59,116,886 (GRCm39) I297M probably damaging Het
Pcdhb21 T A 18: 37,647,645 (GRCm39) probably null Het
Pitpnm3 A G 11: 71,942,684 (GRCm39) Y868H probably benign Het
Pou2f3 G A 9: 43,048,643 (GRCm39) R266W probably damaging Het
Rcn3 T C 7: 44,732,757 (GRCm39) S304G probably benign Het
Rinl A G 7: 28,494,397 (GRCm39) probably null Het
Sema5a T C 15: 32,682,445 (GRCm39) probably benign Het
Sipa1l2 A G 8: 126,207,008 (GRCm39) L565P probably damaging Het
Slc5a9 A G 4: 111,734,826 (GRCm39) I656T probably benign Het
Sptan1 A G 2: 29,920,752 (GRCm39) K2404R probably damaging Het
Tars3 C A 7: 65,310,913 (GRCm39) P314Q probably benign Het
Tbc1d14 C T 5: 36,652,562 (GRCm39) V627I possibly damaging Het
Tdpoz8 A G 3: 92,981,354 (GRCm39) D124G possibly damaging Het
Tfcp2 A T 15: 100,410,185 (GRCm39) V394D probably damaging Het
Trerf1 C T 17: 47,625,387 (GRCm39) noncoding transcript Het
Ucp2 A G 7: 100,147,591 (GRCm39) N190S probably damaging Het
Vmn2r124 A G 17: 18,284,453 (GRCm39) Q498R probably benign Het
Yeats2 T A 16: 19,969,221 (GRCm39) I4N probably damaging Het
Zfp574 T G 7: 24,779,014 (GRCm39) I12S possibly damaging Het
Zscan29 T A 2: 120,994,314 (GRCm39) E522V probably benign Het
Other mutations in Itih5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Itih5 APN 2 10,195,100 (GRCm39) missense probably damaging 1.00
IGL02125:Itih5 APN 2 10,245,798 (GRCm39) missense probably benign
IGL03376:Itih5 APN 2 10,211,584 (GRCm39) missense probably benign 0.12
IGL02991:Itih5 UTSW 2 10,256,162 (GRCm39) missense probably benign 0.01
R0090:Itih5 UTSW 2 10,169,495 (GRCm39) missense probably benign 0.03
R0096:Itih5 UTSW 2 10,256,189 (GRCm39) missense probably benign 0.02
R0096:Itih5 UTSW 2 10,256,189 (GRCm39) missense probably benign 0.02
R0158:Itih5 UTSW 2 10,239,803 (GRCm39) splice site probably benign
R0270:Itih5 UTSW 2 10,256,075 (GRCm39) missense probably benign 0.38
R0276:Itih5 UTSW 2 10,190,375 (GRCm39) missense possibly damaging 0.80
R0807:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0810:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0903:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0905:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R0906:Itih5 UTSW 2 10,253,999 (GRCm39) missense probably benign 0.00
R1104:Itih5 UTSW 2 10,256,323 (GRCm39) missense probably benign 0.03
R1397:Itih5 UTSW 2 10,245,618 (GRCm39) missense probably benign 0.14
R1671:Itih5 UTSW 2 10,191,782 (GRCm39) missense probably benign 0.03
R1971:Itih5 UTSW 2 10,243,379 (GRCm39) missense probably damaging 1.00
R3684:Itih5 UTSW 2 10,243,435 (GRCm39) missense possibly damaging 0.93
R3685:Itih5 UTSW 2 10,243,435 (GRCm39) missense possibly damaging 0.93
R3831:Itih5 UTSW 2 10,256,081 (GRCm39) missense possibly damaging 0.95
R3934:Itih5 UTSW 2 10,250,355 (GRCm39) missense probably damaging 0.98
R4670:Itih5 UTSW 2 10,195,180 (GRCm39) missense probably benign 0.01
R4803:Itih5 UTSW 2 10,245,392 (GRCm39) missense probably benign
R4950:Itih5 UTSW 2 10,239,892 (GRCm39) missense probably damaging 0.98
R5020:Itih5 UTSW 2 10,245,315 (GRCm39) splice site probably null
R5735:Itih5 UTSW 2 10,245,572 (GRCm39) missense probably benign 0.00
R6454:Itih5 UTSW 2 10,245,479 (GRCm39) missense probably benign
R6662:Itih5 UTSW 2 10,253,992 (GRCm39) missense probably benign 0.13
R7019:Itih5 UTSW 2 10,195,138 (GRCm39) missense probably damaging 1.00
R7068:Itih5 UTSW 2 10,254,115 (GRCm39) missense probably damaging 0.99
R7246:Itih5 UTSW 2 10,191,873 (GRCm39) splice site probably null
R7424:Itih5 UTSW 2 10,250,448 (GRCm39) missense probably damaging 1.00
R7452:Itih5 UTSW 2 10,243,607 (GRCm39) missense probably damaging 1.00
R7597:Itih5 UTSW 2 10,254,187 (GRCm39) missense probably damaging 1.00
R8025:Itih5 UTSW 2 10,245,833 (GRCm39) missense probably benign 0.13
R8253:Itih5 UTSW 2 10,243,406 (GRCm39) missense probably benign 0.06
R8349:Itih5 UTSW 2 10,191,800 (GRCm39) missense probably benign 0.01
R8439:Itih5 UTSW 2 10,239,869 (GRCm39) missense probably benign 0.19
R8449:Itih5 UTSW 2 10,191,800 (GRCm39) missense probably benign 0.01
R8825:Itih5 UTSW 2 10,195,231 (GRCm39) missense probably benign 0.00
R9110:Itih5 UTSW 2 10,191,831 (GRCm39) missense probably benign
R9582:Itih5 UTSW 2 10,195,013 (GRCm39) missense probably benign 0.07
R9744:Itih5 UTSW 2 10,256,221 (GRCm39) missense probably damaging 1.00
X0026:Itih5 UTSW 2 10,243,370 (GRCm39) splice site probably null
Posted On 2015-04-16