Incidental Mutation 'IGL02637:Itih3'
ID301542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itih3
Ensembl Gene ENSMUSG00000006522
Gene Nameinter-alpha trypsin inhibitor, heavy chain 3
SynonymsItih-3, Intin3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL02637
Quality Score
Status
Chromosome14
Chromosomal Location30908572-30923760 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30915660 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 514 (N514S)
Ref Sequence ENSEMBL: ENSMUSP00000154659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000226547] [ENSMUST00000227995] [ENSMUST00000228114]
Predicted Effect probably benign
Transcript: ENSMUST00000006697
AA Change: N514S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: N514S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
VIT 29 158 3.87e-83 SMART
VWA 282 466 1.19e-29 SMART
Blast:VWA 571 634 2e-21 BLAST
Pfam:ITI_HC_C 683 870 3e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169620
Predicted Effect probably benign
Transcript: ENSMUST00000170415
AA Change: N514S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133027
Gene: ENSMUSG00000006522
AA Change: N514S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
VIT 29 158 3.87e-83 SMART
VWA 282 466 1.19e-29 SMART
Pfam:ITI_HC_C 503 680 1.5e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226179
Predicted Effect probably benign
Transcript: ENSMUST00000226547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227181
Predicted Effect probably benign
Transcript: ENSMUST00000227995
AA Change: N514S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000228114
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes one of the heavy subunits of inter alpha trypsin inhibitor that functions as a protease inhibitor circulating in the plasma. The encoded protein undergoes proteolytic processing to generate a mature glycoprotein that is linked to the other subunits via an ester bond between the C-terminal aspartic acid residue and the N-acetyl galactosamine residue of chondroitin sulfate. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C A 2: 130,814,307 probably benign Het
Acsm4 A G 7: 119,710,684 Y435C probably damaging Het
Adgrb1 C T 15: 74,588,294 probably benign Het
Ampd1 T C 3: 103,094,883 probably benign Het
Camk1g G A 1: 193,348,388 P338S probably benign Het
Cog3 T C 14: 75,722,196 probably benign Het
Crat A G 2: 30,406,389 V355A probably benign Het
Ctla2a T A 13: 60,936,085 probably benign Het
Efhb A G 17: 53,449,552 I357T probably benign Het
Fh1 T C 1: 175,609,766 M256V probably benign Het
Gabrg3 A G 7: 56,735,027 I262T probably damaging Het
Gata2 C T 6: 88,204,576 probably benign Het
Gm6356 A G 14: 6,970,926 V178A possibly damaging Het
Hacl1 T C 14: 31,640,501 E63G probably damaging Het
Hid1 A T 11: 115,350,595 I623N probably damaging Het
Hivep2 A G 10: 14,130,708 K1017E possibly damaging Het
Ifi208 C T 1: 173,678,942 T97I probably benign Het
Ighg1 T C 12: 113,329,512 H186R unknown Het
Igkv8-26 T C 6: 70,193,658 S78P probably damaging Het
Kcnj16 A T 11: 111,025,613 D367V probably benign Het
Klhl23 A T 2: 69,828,914 R428* probably null Het
Lgmn T C 12: 102,400,226 E216G probably damaging Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrp5 C T 19: 3,630,269 G405D probably benign Het
Lrrc74a C T 12: 86,741,747 R53* probably null Het
Lsm12 G A 11: 102,164,122 R123C probably benign Het
March5 T A 19: 37,220,634 probably benign Het
Mark3 C A 12: 111,592,656 A44D probably damaging Het
Mndal T A 1: 173,857,437 N522I possibly damaging Het
Nbeal2 G T 9: 110,625,977 R2611S possibly damaging Het
Nlrp4d T C 7: 10,382,555 noncoding transcript Het
Npnt T A 3: 132,884,510 I507F possibly damaging Het
Olfr576 G A 7: 102,973,043 probably benign Het
Pde4a T A 9: 21,201,332 L91Q probably damaging Het
Pdzd2 C T 15: 12,385,634 V1017M probably benign Het
Pkhd1l1 A G 15: 44,564,324 N3259S probably damaging Het
Plxnb2 A T 15: 89,164,057 H683Q possibly damaging Het
Reck T A 4: 43,898,009 S96T probably damaging Het
Rnf135 A G 11: 80,198,878 K347E probably benign Het
Rxfp2 A G 5: 150,055,913 D246G probably damaging Het
Sdk1 C T 5: 142,094,572 T1273I probably damaging Het
Slc12a8 A T 16: 33,534,960 M49L probably benign Het
Slc5a11 A T 7: 123,260,505 probably null Het
Surf2 A G 2: 26,919,778 K247E probably damaging Het
Sys1 G A 2: 164,461,392 V9M possibly damaging Het
Tcf4 G A 18: 69,347,350 D18N probably damaging Het
Tmc6 A T 11: 117,767,590 V773D possibly damaging Het
Trappc13 T C 13: 104,150,062 Q229R probably benign Het
Trove2 A G 1: 143,770,788 V73A probably damaging Het
Xkr5 T C 8: 18,934,083 E481G probably benign Het
Xpo5 C A 17: 46,235,979 D885E probably damaging Het
Other mutations in Itih3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Itih3 APN 14 30909781 missense probably damaging 0.98
IGL01359:Itih3 APN 14 30917772 missense probably damaging 1.00
IGL01965:Itih3 APN 14 30915720 missense probably damaging 0.99
IGL02435:Itih3 APN 14 30915754 missense probably damaging 0.99
IGL02539:Itih3 APN 14 30912664 missense probably benign 0.03
IGL02958:Itih3 APN 14 30913182 missense probably benign 0.00
IGL03253:Itih3 APN 14 30911923 critical splice donor site probably null
K2124:Itih3 UTSW 14 30912687 missense probably benign 0.40
R0321:Itih3 UTSW 14 30912106 missense probably damaging 0.99
R0466:Itih3 UTSW 14 30912874 critical splice donor site probably null
R1402:Itih3 UTSW 14 30908708 missense probably damaging 1.00
R1402:Itih3 UTSW 14 30908708 missense probably damaging 1.00
R1633:Itih3 UTSW 14 30917398 missense possibly damaging 0.46
R1982:Itih3 UTSW 14 30923583 unclassified probably benign
R2056:Itih3 UTSW 14 30909524 splice site probably null
R2077:Itih3 UTSW 14 30909835 missense possibly damaging 0.91
R2417:Itih3 UTSW 14 30917664 missense probably benign 0.04
R3624:Itih3 UTSW 14 30914743 missense probably damaging 1.00
R3794:Itih3 UTSW 14 30918394 missense probably damaging 1.00
R4676:Itih3 UTSW 14 30918949 missense probably null 1.00
R4676:Itih3 UTSW 14 30921686 missense possibly damaging 0.91
R5198:Itih3 UTSW 14 30912649 missense probably benign 0.07
R5429:Itih3 UTSW 14 30923521 missense probably benign 0.00
R6379:Itih3 UTSW 14 30909724 missense probably damaging 1.00
R6740:Itih3 UTSW 14 30912687 missense probably benign 0.40
R6752:Itih3 UTSW 14 30923489 missense possibly damaging 0.76
R6765:Itih3 UTSW 14 30909473 missense probably benign
R6785:Itih3 UTSW 14 30912615 critical splice donor site probably null
R6871:Itih3 UTSW 14 30912687 missense probably benign 0.40
R6935:Itih3 UTSW 14 30912702 missense possibly damaging 0.82
R7133:Itih3 UTSW 14 30917698 missense probably damaging 1.00
R7419:Itih3 UTSW 14 30914773 missense probably benign 0.41
R7592:Itih3 UTSW 14 30908765 missense probably damaging 0.98
R7598:Itih3 UTSW 14 30917377 missense possibly damaging 0.95
R7662:Itih3 UTSW 14 30917330 missense probably benign 0.00
Y5408:Itih3 UTSW 14 30921945 missense probably damaging 1.00
Posted On2015-04-16