Incidental Mutation 'IGL02194:Itih1'
ID 283990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itih1
Ensembl Gene ENSMUSG00000006529
Gene Name inter-alpha trypsin inhibitor, heavy chain 1
Synonyms Intin1, inter-alpha (globulin) inhibitor, H1 polypeptide, Itih-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02194
Quality Score
Status
Chromosome 14
Chromosomal Location 30651137-30665246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 30652322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 786 (D786E)
Ref Sequence ENSEMBL: ENSMUSP00000126449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]
AlphaFold Q61702
Predicted Effect probably benign
Transcript: ENSMUST00000006704
AA Change: D790E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: D790E

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
AA Change: D786E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: D786E

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik G A 14: 54,828,812 (GRCm39) Q230* probably null Het
Akap5 C T 12: 76,374,807 (GRCm39) P80S probably damaging Het
Akap6 T A 12: 52,933,606 (GRCm39) M366K probably benign Het
Ankef1 T A 2: 136,392,429 (GRCm39) D539E probably benign Het
Anxa11 A G 14: 25,870,553 (GRCm39) D39G unknown Het
Atp13a4 G T 16: 29,275,447 (GRCm39) H346N probably damaging Het
Btnl1 A C 17: 34,598,509 (GRCm39) T42P possibly damaging Het
Cul3 T A 1: 80,300,754 (GRCm39) Y29F probably benign Het
Dcun1d4 A G 5: 73,638,544 (GRCm39) probably benign Het
Det1 A T 7: 78,489,912 (GRCm39) V371E probably benign Het
Duoxa2 C A 2: 122,132,330 (GRCm39) A248D possibly damaging Het
Ehbp1l1 A T 19: 5,768,885 (GRCm39) I806K probably benign Het
Fam76b G T 9: 13,744,274 (GRCm39) G124W probably damaging Het
Fhl5 T C 4: 25,211,341 (GRCm39) E117G probably benign Het
Ighv15-2 T C 12: 114,528,341 (GRCm39) I70V probably damaging Het
Iqca1 T C 1: 89,973,385 (GRCm39) T768A probably benign Het
Krt15 A G 11: 100,022,839 (GRCm39) probably benign Het
Lgals9 T A 11: 78,857,746 (GRCm39) probably null Het
Map3k4 G T 17: 12,467,882 (GRCm39) Q1051K probably benign Het
Map3k4 G T 17: 12,482,815 (GRCm39) P634H probably damaging Het
Mettl21e T C 1: 44,250,343 (GRCm39) D21G probably benign Het
Mre11a T C 9: 14,726,505 (GRCm39) S423P possibly damaging Het
Mzf1 T A 7: 12,777,647 (GRCm39) T665S possibly damaging Het
Or4c111 T C 2: 88,844,231 (GRCm39) Y59C probably damaging Het
Or7c19 T A 8: 85,957,262 (GRCm39) I46N possibly damaging Het
Otx2 A T 14: 48,898,850 (GRCm39) V52D possibly damaging Het
Rnf157 C T 11: 116,237,858 (GRCm39) probably null Het
Ssxa1 T A X: 20,987,394 (GRCm39) I115N unknown Het
Ube2q2l T C 6: 136,378,056 (GRCm39) Q258R probably benign Het
Other mutations in Itih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Itih1 APN 14 30,651,778 (GRCm39) missense probably benign 0.26
IGL00227:Itih1 APN 14 30,664,846 (GRCm39) splice site probably null
IGL00902:Itih1 APN 14 30,654,439 (GRCm39) splice site probably benign
IGL02221:Itih1 APN 14 30,651,544 (GRCm39) missense probably damaging 1.00
IGL02292:Itih1 APN 14 30,655,312 (GRCm39) splice site probably null
IGL02733:Itih1 APN 14 30,658,677 (GRCm39) missense probably damaging 1.00
IGL02928:Itih1 APN 14 30,659,715 (GRCm39) missense probably damaging 1.00
IGL03064:Itih1 APN 14 30,663,514 (GRCm39) missense probably benign 0.09
1mM(1):Itih1 UTSW 14 30,651,807 (GRCm39) missense probably damaging 1.00
R0092:Itih1 UTSW 14 30,662,820 (GRCm39) splice site probably benign
R0647:Itih1 UTSW 14 30,657,820 (GRCm39) missense probably damaging 1.00
R0662:Itih1 UTSW 14 30,655,317 (GRCm39) missense possibly damaging 0.63
R0744:Itih1 UTSW 14 30,663,512 (GRCm39) missense probably damaging 1.00
R0833:Itih1 UTSW 14 30,663,512 (GRCm39) missense probably damaging 1.00
R1070:Itih1 UTSW 14 30,664,413 (GRCm39) splice site probably benign
R1397:Itih1 UTSW 14 30,651,862 (GRCm39) splice site probably benign
R1797:Itih1 UTSW 14 30,651,856 (GRCm39) missense probably damaging 1.00
R1898:Itih1 UTSW 14 30,654,244 (GRCm39) missense probably benign
R1964:Itih1 UTSW 14 30,651,580 (GRCm39) missense probably damaging 1.00
R1967:Itih1 UTSW 14 30,663,941 (GRCm39) missense possibly damaging 0.67
R2086:Itih1 UTSW 14 30,659,800 (GRCm39) missense probably damaging 1.00
R2155:Itih1 UTSW 14 30,660,028 (GRCm39) missense probably damaging 1.00
R2156:Itih1 UTSW 14 30,655,432 (GRCm39) missense possibly damaging 0.88
R2225:Itih1 UTSW 14 30,651,534 (GRCm39) missense possibly damaging 0.88
R3836:Itih1 UTSW 14 30,657,785 (GRCm39) missense probably damaging 1.00
R3837:Itih1 UTSW 14 30,657,785 (GRCm39) missense probably damaging 1.00
R3839:Itih1 UTSW 14 30,657,785 (GRCm39) missense probably damaging 1.00
R4388:Itih1 UTSW 14 30,663,512 (GRCm39) missense possibly damaging 0.93
R4504:Itih1 UTSW 14 30,657,842 (GRCm39) missense probably damaging 1.00
R4618:Itih1 UTSW 14 30,651,788 (GRCm39) missense probably benign 0.33
R4682:Itih1 UTSW 14 30,659,800 (GRCm39) missense probably damaging 1.00
R4856:Itih1 UTSW 14 30,658,658 (GRCm39) critical splice donor site probably null
R4886:Itih1 UTSW 14 30,658,658 (GRCm39) critical splice donor site probably null
R5169:Itih1 UTSW 14 30,655,403 (GRCm39) nonsense probably null
R5773:Itih1 UTSW 14 30,657,356 (GRCm39) missense possibly damaging 0.89
R5875:Itih1 UTSW 14 30,651,487 (GRCm39) missense probably benign
R6048:Itih1 UTSW 14 30,651,780 (GRCm39) missense possibly damaging 0.89
R6077:Itih1 UTSW 14 30,651,833 (GRCm39) missense possibly damaging 0.75
R6175:Itih1 UTSW 14 30,653,152 (GRCm39) missense probably damaging 1.00
R6228:Itih1 UTSW 14 30,653,217 (GRCm39) missense probably benign 0.00
R6664:Itih1 UTSW 14 30,655,393 (GRCm39) missense probably damaging 1.00
R6675:Itih1 UTSW 14 30,651,798 (GRCm39) missense possibly damaging 0.50
R7059:Itih1 UTSW 14 30,653,266 (GRCm39) missense possibly damaging 0.93
R7168:Itih1 UTSW 14 30,656,064 (GRCm39) missense probably null 0.98
R7408:Itih1 UTSW 14 30,665,117 (GRCm39) missense probably benign 0.00
R7458:Itih1 UTSW 14 30,665,223 (GRCm39) start codon destroyed probably null
R7717:Itih1 UTSW 14 30,653,142 (GRCm39) missense probably damaging 1.00
R8016:Itih1 UTSW 14 30,657,251 (GRCm39) missense probably damaging 0.96
R8035:Itih1 UTSW 14 30,664,482 (GRCm39) missense probably benign 0.25
R8111:Itih1 UTSW 14 30,654,225 (GRCm39) missense probably damaging 0.99
R8131:Itih1 UTSW 14 30,663,521 (GRCm39) missense probably damaging 1.00
R8171:Itih1 UTSW 14 30,659,047 (GRCm39) missense possibly damaging 0.80
R8769:Itih1 UTSW 14 30,655,381 (GRCm39) missense probably damaging 1.00
R8947:Itih1 UTSW 14 30,657,866 (GRCm39) splice site probably benign
R8960:Itih1 UTSW 14 30,655,414 (GRCm39) missense probably damaging 1.00
R9022:Itih1 UTSW 14 30,652,327 (GRCm39) missense probably benign 0.01
R9065:Itih1 UTSW 14 30,657,833 (GRCm39) missense probably damaging 1.00
R9266:Itih1 UTSW 14 30,652,222 (GRCm39) missense probably damaging 0.98
R9296:Itih1 UTSW 14 30,653,251 (GRCm39) missense probably benign 0.15
R9525:Itih1 UTSW 14 30,658,711 (GRCm39) missense probably benign 0.43
R9654:Itih1 UTSW 14 30,664,870 (GRCm39) missense probably damaging 1.00
Z1177:Itih1 UTSW 14 30,651,529 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16