Incidental Mutation 'IGL01481:Itih5'
ID88617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itih5
Ensembl Gene ENSMUSG00000025780
Gene Nameinter-alpha (globulin) inhibitor H5
Synonyms5430408M01Rik, 4631408O11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01481
Quality Score
Status
Chromosome2
Chromosomal Location10153571-10256529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 10190289 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Proline at position 164 (Q164P)
Ref Sequence ENSEMBL: ENSMUSP00000026886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026886]
Predicted Effect probably damaging
Transcript: ENSMUST00000026886
AA Change: Q164P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: Q164P

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tox T A 4: 6,842,396 T45S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N probably damaging Het
Other mutations in Itih5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02125:Itih5 APN 2 10240987 missense probably benign
IGL02370:Itih5 APN 2 10186975 missense probably benign 0.05
IGL03376:Itih5 APN 2 10206773 missense probably benign 0.12
IGL02991:Itih5 UTSW 2 10251351 missense probably benign 0.01
R0090:Itih5 UTSW 2 10164684 missense probably benign 0.03
R0096:Itih5 UTSW 2 10251378 missense probably benign 0.02
R0096:Itih5 UTSW 2 10251378 missense probably benign 0.02
R0158:Itih5 UTSW 2 10234992 splice site probably benign
R0270:Itih5 UTSW 2 10251264 missense probably benign 0.38
R0276:Itih5 UTSW 2 10185564 missense possibly damaging 0.80
R0807:Itih5 UTSW 2 10249188 missense probably benign 0.00
R0810:Itih5 UTSW 2 10249188 missense probably benign 0.00
R0903:Itih5 UTSW 2 10249188 missense probably benign 0.00
R0905:Itih5 UTSW 2 10249188 missense probably benign 0.00
R0906:Itih5 UTSW 2 10249188 missense probably benign 0.00
R1104:Itih5 UTSW 2 10251512 missense probably benign 0.03
R1397:Itih5 UTSW 2 10240807 missense probably benign 0.14
R1671:Itih5 UTSW 2 10186971 missense probably benign 0.03
R1971:Itih5 UTSW 2 10238568 missense probably damaging 1.00
R3684:Itih5 UTSW 2 10238624 missense possibly damaging 0.93
R3685:Itih5 UTSW 2 10238624 missense possibly damaging 0.93
R3831:Itih5 UTSW 2 10251270 missense possibly damaging 0.95
R3934:Itih5 UTSW 2 10245544 missense probably damaging 0.98
R4670:Itih5 UTSW 2 10190369 missense probably benign 0.01
R4803:Itih5 UTSW 2 10240581 missense probably benign
R4950:Itih5 UTSW 2 10235081 missense probably damaging 0.98
R5020:Itih5 UTSW 2 10240504 intron probably null
R5735:Itih5 UTSW 2 10240761 missense probably benign 0.00
R6454:Itih5 UTSW 2 10240668 missense probably benign
R6662:Itih5 UTSW 2 10249181 missense probably benign 0.13
R7019:Itih5 UTSW 2 10190327 missense probably damaging 1.00
R7068:Itih5 UTSW 2 10249304 missense probably damaging 0.99
R7246:Itih5 UTSW 2 10187062 splice site probably null
R7424:Itih5 UTSW 2 10245637 missense probably damaging 1.00
R7452:Itih5 UTSW 2 10238796 missense probably damaging 1.00
R7597:Itih5 UTSW 2 10249376 missense probably damaging 1.00
R8025:Itih5 UTSW 2 10241022 missense probably benign 0.13
R8253:Itih5 UTSW 2 10238595 missense probably benign 0.06
X0026:Itih5 UTSW 2 10238559 splice site probably null
Posted On2013-11-18