Incidental Mutation 'IGL01359:Itih3'
ID75643
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: 0.103) question?
Stock #IGL01359
Quality Score
Status
Chromosome14
Chromosomal Location30908572-30923760 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30917772 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 364 (D364V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000226547] [ENSMUST00000227995] [ENSMUST00000228114]
Predicted Effect probably damaging
Transcript: ENSMUST00000006697
AA Change: D364V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: D364V

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 damaging
Transcript: ENSMUST00000170415
AA Change: D364V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133027
Gene: ENSMUSG00000006522
AA Change: D364V

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 damaging
Transcript: ENSMUST00000227995
AA Change: D364V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,310,686 E605K probably damaging Het
Adgrl4 G A 3: 151,543,286 C737Y probably damaging Het
Ankk1 A T 9: 49,416,028 I617N possibly damaging Het
B3gat2 T C 1: 23,763,220 F196L probably damaging Het
Bcl2l14 T A 6: 134,423,865 I83N probably damaging Het
Bcr T C 10: 75,159,779 probably benign Het
Ckmt2 A T 13: 91,861,820 I127N probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dnah11 T C 12: 117,982,999 T3117A probably damaging Het
Dnaic2 A G 11: 114,751,788 Y405C probably benign Het
Emc2 A G 15: 43,511,749 Y214C probably damaging Het
Fbxw2 T C 2: 34,822,750 T100A probably benign Het
Fkrp C T 7: 16,811,490 R149Q probably benign Het
Fsd1l A G 4: 53,659,601 R153G possibly damaging Het
Galnt4 T C 10: 99,109,597 Y395H probably damaging Het
Gk5 T C 9: 96,137,789 L126P probably damaging Het
Gm973 A G 1: 59,630,279 S830G probably benign Het
Gpc5 G A 14: 115,369,750 G255S possibly damaging Het
Grk3 C A 5: 112,937,760 S370I probably damaging Het
Herc1 A G 9: 66,439,268 D1972G probably benign Het
Lce1f G T 3: 92,719,184 C55* probably null Het
Ltn1 A C 16: 87,405,693 probably benign Het
Lyl1 C T 8: 84,702,686 A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 E3974G probably benign Het
Msl3l2 T C 10: 56,116,244 V355A probably damaging Het
Nadsyn1 T C 7: 143,821,230 I30V possibly damaging Het
Nuggc T C 14: 65,623,207 V418A probably damaging Het
Olfr1308 A T 2: 111,961,061 M4K probably benign Het
Olfr553 A T 7: 102,614,172 H272Q probably benign Het
Olfr671 T C 7: 104,975,986 probably null Het
Ppp4r3a T C 12: 101,058,496 E248G probably damaging Het
Rab3gap2 T A 1: 185,238,870 V234E probably damaging Het
Radil G A 5: 142,543,713 T105I probably damaging Het
Saa4 A G 7: 46,731,636 W21R possibly damaging Het
Sec62 G A 3: 30,814,306 S228N unknown Het
Setd4 C T 16: 93,591,239 G120S probably damaging Het
Sgpl1 G A 10: 61,100,908 T556I probably benign Het
Slc14a2 T C 18: 78,154,108 D811G probably benign Het
Slc26a11 A T 11: 119,363,431 M192L probably benign Het
Spon1 A T 7: 114,034,290 Q656L probably damaging Het
Tex15 A G 8: 33,581,898 D2491G probably damaging Het
Tox T C 4: 6,697,583 T407A probably damaging Het
Ubr5 A T 15: 37,973,006 I2611N probably damaging Het
Usp25 G A 16: 77,059,253 A245T probably damaging Het
Vwa8 C A 14: 79,064,913 Y1007* probably null Het
Zfp423 T C 8: 87,780,662 H893R probably damaging Het
Zfp507 A G 7: 35,794,502 I372T probably damaging Het
Other mutations in Itih3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Itih3 APN 14 30909781 missense probably damaging 0.98
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
IGL02637:Itih3 APN 14 30915660 missense probably benign 0.00
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
Y5408:Itih3 UTSW 14 30921945 missense probably damaging 1.00
Posted On2013-10-07