Incidental Mutation 'IGL00902:Itih1'
ID28928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itih1
Ensembl Gene ENSMUSG00000006529
Gene Nameinter-alpha trypsin inhibitor, heavy chain 1
Synonymsinter-alpha (globulin) inhibitor, H1 polypeptide, Itih-1, Intin1
Accession Numbers

Genbank: NM_008406.3; Ensembl: ENSMUST00000163118

Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL00902
Quality Score
Status
Chromosome14
Chromosomal Location30929180-30943289 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 30932482 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]
Predicted Effect probably benign
Transcript: ENSMUST00000006704
SMART Domains Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VIT 34 167 6e-79 SMART
low complexity region 240 251 N/A INTRINSIC
VWA 291 472 2.1e-32 SMART
Blast:VWA 528 577 5e-21 BLAST
Pfam:ITI_HC_C 706 892 2.1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163118
SMART Domains Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VIT 34 163 2.44e-80 SMART
low complexity region 236 247 N/A INTRINSIC
VWA 287 468 3.43e-30 SMART
Blast:VWA 524 573 5e-21 BLAST
Pfam:ITI_HC_C 701 888 5.3e-81 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a heavy chain of inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors. IaI proteins are protein-glycosaminoglycan-protein complexes comprised of two heavy chains and a light chain. The encoded protein covalently associates with the light chain via a chondroitin sulfate moiety. Intravenous administration of the encoded protein improved survival of mice after infection with Escherichia coli. This gene is located adjacent to two other IaI heavy chain genes. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature protein. [provided by RefSeq, Oct 2015]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,041,345 G1001D probably damaging Het
Adamts7 T G 9: 90,188,794 probably null Het
Akap11 A G 14: 78,495,838 S1876P probably benign Het
Capn10 A G 1: 92,942,559 I256V probably benign Het
Catsperg2 T A 7: 29,701,143 H262L possibly damaging Het
Col22a1 C A 15: 71,964,659 G509V probably damaging Het
Dab2ip T C 2: 35,717,112 F523S probably damaging Het
Dbnl G T 11: 5,798,105 A313S probably benign Het
Ddo T C 10: 40,647,554 V180A probably damaging Het
Enox1 A G 14: 77,582,404 M200V possibly damaging Het
Fabp6 G A 11: 43,598,716 R33C probably damaging Het
Gm9104 T C 17: 45,466,014 probably benign Het
Gspt1 C T 16: 11,232,579 V303I probably damaging Het
Igf2r C T 17: 12,700,358 C1469Y probably damaging Het
Igflr1 T C 7: 30,567,275 S183P possibly damaging Het
Itga6 T C 2: 71,849,394 V1001A probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lrp5 T C 19: 3,600,774 N1220S probably damaging Het
March6 A G 15: 31,484,978 Y434H probably damaging Het
Mbd1 A G 18: 74,275,239 Y211C possibly damaging Het
Mpeg1 C A 19: 12,461,769 A197D probably damaging Het
Mroh2b T A 15: 4,915,222 L435Q probably damaging Het
Mss51 A C 14: 20,486,167 M160R probably damaging Het
Ndufs7 T G 10: 80,256,005 Y190* probably null Het
Olfr1015 T C 2: 85,786,117 M202T probably benign Het
Olfr768 T A 10: 129,093,396 I193L probably benign Het
Pcdh17 A G 14: 84,446,849 E252G probably damaging Het
Ric1 T C 19: 29,567,231 V151A probably benign Het
Sgo2a A G 1: 58,016,099 T481A probably benign Het
Slc5a8 A G 10: 88,919,461 T477A probably benign Het
Smg5 G A 3: 88,353,085 V661I probably benign Het
Snx19 A T 9: 30,428,732 I389F possibly damaging Het
Spem1 A T 11: 69,821,817 I64N probably damaging Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Thada A T 17: 84,447,976 M262K probably damaging Het
Uox A G 3: 146,610,406 D32G possibly damaging Het
Usp42 A T 5: 143,719,874 probably benign Het
Usp43 G A 11: 67,891,419 P391L probably benign Het
Vmn2r56 T C 7: 12,715,499 S271G probably benign Het
Wdr64 T A 1: 175,728,825 C213S probably damaging Het
Zfp26 A T 9: 20,439,548 S194T possibly damaging Het
Other mutations in Itih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Itih1 APN 14 30929821 missense probably benign 0.26
IGL00227:Itih1 APN 14 30942889 splice site probably null
IGL02194:Itih1 APN 14 30930365 missense probably benign 0.01
IGL02221:Itih1 APN 14 30929587 missense probably damaging 1.00
IGL02292:Itih1 APN 14 30933355 splice site probably null
IGL02733:Itih1 APN 14 30936720 missense probably damaging 1.00
IGL02928:Itih1 APN 14 30937758 missense probably damaging 1.00
IGL03064:Itih1 APN 14 30941557 missense probably benign 0.09
1mM(1):Itih1 UTSW 14 30929850 missense probably damaging 1.00
R0092:Itih1 UTSW 14 30940863 splice site probably benign
R0647:Itih1 UTSW 14 30935863 missense probably damaging 1.00
R0662:Itih1 UTSW 14 30933360 missense possibly damaging 0.63
R0744:Itih1 UTSW 14 30941555 missense probably damaging 1.00
R0833:Itih1 UTSW 14 30941555 missense probably damaging 1.00
R1070:Itih1 UTSW 14 30942456 splice site probably benign
R1397:Itih1 UTSW 14 30929905 splice site probably benign
R1797:Itih1 UTSW 14 30929899 missense probably damaging 1.00
R1898:Itih1 UTSW 14 30932287 missense probably benign
R1964:Itih1 UTSW 14 30929623 missense probably damaging 1.00
R1967:Itih1 UTSW 14 30941984 missense possibly damaging 0.67
R2086:Itih1 UTSW 14 30937843 missense probably damaging 1.00
R2155:Itih1 UTSW 14 30938071 missense probably damaging 1.00
R2156:Itih1 UTSW 14 30933475 missense possibly damaging 0.88
R2225:Itih1 UTSW 14 30929577 missense possibly damaging 0.88
R3836:Itih1 UTSW 14 30935828 missense probably damaging 1.00
R3837:Itih1 UTSW 14 30935828 missense probably damaging 1.00
R3839:Itih1 UTSW 14 30935828 missense probably damaging 1.00
R4388:Itih1 UTSW 14 30941555 missense possibly damaging 0.93
R4504:Itih1 UTSW 14 30935885 missense probably damaging 1.00
R4618:Itih1 UTSW 14 30929831 missense probably benign 0.33
R4682:Itih1 UTSW 14 30937843 missense probably damaging 1.00
R4856:Itih1 UTSW 14 30936701 critical splice donor site probably null
R4886:Itih1 UTSW 14 30936701 critical splice donor site probably null
R5169:Itih1 UTSW 14 30933446 nonsense probably null
R5773:Itih1 UTSW 14 30935399 missense possibly damaging 0.89
R5875:Itih1 UTSW 14 30929530 missense probably benign
R6048:Itih1 UTSW 14 30929823 missense possibly damaging 0.89
R6077:Itih1 UTSW 14 30929876 missense possibly damaging 0.75
R6175:Itih1 UTSW 14 30931195 missense probably damaging 1.00
R6228:Itih1 UTSW 14 30931260 missense probably benign 0.00
R6664:Itih1 UTSW 14 30933436 missense probably damaging 1.00
R6675:Itih1 UTSW 14 30929841 missense possibly damaging 0.50
R7059:Itih1 UTSW 14 30931309 missense possibly damaging 0.93
R7168:Itih1 UTSW 14 30934107 missense probably null 0.98
R7408:Itih1 UTSW 14 30943160 missense probably benign 0.00
R7458:Itih1 UTSW 14 30943266 start codon destroyed probably null
R7717:Itih1 UTSW 14 30931185 missense probably damaging 1.00
R8016:Itih1 UTSW 14 30935294 missense not run
R8035:Itih1 UTSW 14 30942525 missense not run
Z1177:Itih1 UTSW 14 30929572 missense not run
Posted On2013-04-17