Incidental Mutation 'R2056:Itih3'
ID 228214
Institutional Source Beutler Lab
Gene Symbol Itih3
Ensembl Gene ENSMUSG00000006522
Gene Name inter-alpha trypsin inhibitor, heavy chain 3
Synonyms Itih-3, Intin3
MMRRC Submission 040061-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R2056 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30630529-30645717 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 30631481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000226547] [ENSMUST00000228114] [ENSMUST00000227995]
AlphaFold Q61704
Predicted Effect probably null
Transcript: ENSMUST00000006697
SMART Domains Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522

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 null
Transcript: ENSMUST00000170415
SMART Domains Protein: ENSMUSP00000133027
Gene: ENSMUSG00000006522

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 probably benign
Transcript: ENSMUST00000228114
Predicted Effect probably null
Transcript: ENSMUST00000227995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227181
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adh1 A G 3: 137,992,676 (GRCm39) D264G probably damaging Het
Ahnak2 T A 12: 112,748,626 (GRCm39) D407V probably benign Het
Alas1 T C 9: 106,118,489 (GRCm39) E211G probably damaging Het
Alkbh1 C T 12: 87,490,520 (GRCm39) probably benign Het
Ankmy1 T C 1: 92,809,553 (GRCm39) I662V possibly damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apc A G 18: 34,449,481 (GRCm39) R2092G probably damaging Het
Arhgap18 C T 10: 26,730,904 (GRCm39) T122I probably benign Het
Atp2b4 G T 1: 133,654,275 (GRCm39) Q777K probably benign Het
Brap G A 5: 121,801,529 (GRCm39) G95S probably damaging Het
Cbfa2t2 G A 2: 154,377,077 (GRCm39) A587T probably damaging Het
Ccdc180 A G 4: 45,932,477 (GRCm39) I1308V probably benign Het
Ccser1 T A 6: 61,399,936 (GRCm39) probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cmtm4 A C 8: 105,081,920 (GRCm39) F156V probably damaging Het
Cntln G A 4: 84,967,911 (GRCm39) R710K probably benign Het
Csn1s1 A T 5: 87,819,387 (GRCm39) T15S possibly damaging Het
Cul9 T C 17: 46,854,298 (GRCm39) T135A probably benign Het
Cyp2d10 T A 15: 82,288,015 (GRCm39) I363F probably damaging Het
Dhx38 G T 8: 110,289,352 (GRCm39) probably benign Het
Dis3 A T 14: 99,336,251 (GRCm39) I85N possibly damaging Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Dscaml1 A G 9: 45,661,430 (GRCm39) D1776G probably damaging Het
Erbin A G 13: 103,966,824 (GRCm39) S1209P probably benign Het
Fat4 T A 3: 38,945,319 (GRCm39) M1404K possibly damaging Het
Fbxo45 G T 16: 32,057,346 (GRCm39) Q183K possibly damaging Het
Frmd4b C T 6: 97,389,448 (GRCm39) probably null Het
Fzd7 A G 1: 59,523,361 (GRCm39) S415G probably benign Het
Gpd2 T A 2: 57,229,025 (GRCm39) probably null Het
Gsk3b T A 16: 38,008,271 (GRCm39) D192E probably benign Het
Gstcd T C 3: 132,787,814 (GRCm39) I295V probably benign Het
Gucy1a1 A G 3: 82,016,592 (GRCm39) L132P possibly damaging Het
Il12b A C 11: 44,298,727 (GRCm39) T61P probably damaging Het
Il7 A T 3: 7,638,975 (GRCm39) N130K probably damaging Het
Kdm5b T A 1: 134,540,952 (GRCm39) D681E probably benign Het
Kif11 A G 19: 37,390,660 (GRCm39) N408D probably benign Het
Kng2 TATGACCATGACCATGACCATGACCATGACCATGACCAT TATGACCATGACCATGACCATGACCATGACCAT 16: 22,806,703 (GRCm39) probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Krt9 G T 11: 100,082,321 (GRCm39) N201K probably damaging Het
Lmbr1 G A 5: 29,438,092 (GRCm39) P304L probably benign Het
Lrrfip1 A G 1: 91,043,539 (GRCm39) N648S probably benign Het
Mab21l3 C A 3: 101,722,469 (GRCm39) V386L possibly damaging Het
Mamdc4 T C 2: 25,454,180 (GRCm39) Q1149R probably benign Het
Mast1 A G 8: 85,646,995 (GRCm39) F677L possibly damaging Het
Mcoln3 A G 3: 145,833,979 (GRCm39) D173G probably benign Het
Mmrn1 C T 6: 60,921,789 (GRCm39) T82I probably benign Het
Mtcl2 C T 2: 156,864,747 (GRCm39) G1154S probably benign Het
Muc5ac A G 7: 141,345,772 (GRCm39) T203A probably benign Het
Myo9b T C 8: 71,812,334 (GRCm39) I2035T possibly damaging Het
Ndst3 T C 3: 123,465,534 (GRCm39) N146S probably damaging Het
Neu4 A G 1: 93,950,172 (GRCm39) T21A possibly damaging Het
Nos1ap G A 1: 170,155,215 (GRCm39) L267F probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or3a4 A T 11: 73,944,819 (GRCm39) Y255* probably null Het
Or4p8 A G 2: 88,727,105 (GRCm39) F279L probably damaging Het
Phc1 T C 6: 122,310,299 (GRCm39) N136S probably damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Psd2 A G 18: 36,139,744 (GRCm39) D596G possibly damaging Het
Psmc3 T C 2: 90,888,433 (GRCm39) F315L probably benign Het
Rerg G A 6: 137,034,878 (GRCm39) T42I probably benign Het
Rif1 T A 2: 51,983,588 (GRCm39) M577K probably damaging Het
Sap30 T C 8: 57,940,282 (GRCm39) probably null Het
Scn2b T C 9: 45,036,815 (GRCm39) Y108H probably damaging Het
Senp2 C T 16: 21,832,949 (GRCm39) T79I probably damaging Het
Serpinb2 T C 1: 107,451,543 (GRCm39) V232A probably damaging Het
Sgpp2 T A 1: 78,393,588 (GRCm39) L197Q probably damaging Het
Slc27a4 T C 2: 29,700,953 (GRCm39) W320R probably damaging Het
Spmip4 T C 6: 50,550,725 (GRCm39) R575G possibly damaging Het
Tgm4 T C 9: 122,890,835 (GRCm39) I54T probably damaging Het
Thbs4 T A 13: 92,927,387 (GRCm39) D34V probably benign Het
Tlcd4 T G 3: 121,001,070 (GRCm39) I188L probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tmod2 T C 9: 75,484,524 (GRCm39) E248G probably benign Het
Ttc6 T A 12: 57,784,479 (GRCm39) D1849E probably benign Het
Ttn T C 2: 76,615,882 (GRCm39) D8360G possibly damaging Het
Unc80 A G 1: 66,679,711 (GRCm39) E2094G possibly damaging Het
Vmn2r18 A T 5: 151,508,160 (GRCm39) D321E probably damaging Het
Other mutations in Itih3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Itih3 APN 14 30,631,738 (GRCm39) missense probably damaging 0.98
IGL01359:Itih3 APN 14 30,639,729 (GRCm39) missense probably damaging 1.00
IGL01965:Itih3 APN 14 30,637,677 (GRCm39) missense probably damaging 0.99
IGL02435:Itih3 APN 14 30,637,711 (GRCm39) missense probably damaging 0.99
IGL02539:Itih3 APN 14 30,634,621 (GRCm39) missense probably benign 0.03
IGL02637:Itih3 APN 14 30,637,617 (GRCm39) missense probably benign 0.00
IGL02958:Itih3 APN 14 30,635,139 (GRCm39) missense probably benign 0.00
IGL03253:Itih3 APN 14 30,633,880 (GRCm39) critical splice donor site probably null
K2124:Itih3 UTSW 14 30,634,644 (GRCm39) missense probably benign 0.40
R0321:Itih3 UTSW 14 30,634,063 (GRCm39) missense probably damaging 0.99
R0466:Itih3 UTSW 14 30,634,831 (GRCm39) critical splice donor site probably null
R1402:Itih3 UTSW 14 30,630,665 (GRCm39) missense probably damaging 1.00
R1402:Itih3 UTSW 14 30,630,665 (GRCm39) missense probably damaging 1.00
R1633:Itih3 UTSW 14 30,639,355 (GRCm39) missense possibly damaging 0.46
R1982:Itih3 UTSW 14 30,645,540 (GRCm39) unclassified probably benign
R2077:Itih3 UTSW 14 30,631,792 (GRCm39) missense possibly damaging 0.91
R2417:Itih3 UTSW 14 30,639,621 (GRCm39) missense probably benign 0.04
R3624:Itih3 UTSW 14 30,636,700 (GRCm39) missense probably damaging 1.00
R3794:Itih3 UTSW 14 30,640,351 (GRCm39) missense probably damaging 1.00
R4676:Itih3 UTSW 14 30,643,643 (GRCm39) missense possibly damaging 0.91
R4676:Itih3 UTSW 14 30,640,906 (GRCm39) missense probably null 1.00
R5198:Itih3 UTSW 14 30,634,606 (GRCm39) missense probably benign 0.07
R5429:Itih3 UTSW 14 30,645,478 (GRCm39) missense probably benign 0.00
R6379:Itih3 UTSW 14 30,631,681 (GRCm39) missense probably damaging 1.00
R6740:Itih3 UTSW 14 30,634,644 (GRCm39) missense probably benign 0.40
R6752:Itih3 UTSW 14 30,645,446 (GRCm39) missense possibly damaging 0.76
R6765:Itih3 UTSW 14 30,631,430 (GRCm39) missense probably benign
R6785:Itih3 UTSW 14 30,634,572 (GRCm39) critical splice donor site probably null
R6871:Itih3 UTSW 14 30,634,644 (GRCm39) missense probably benign 0.40
R6935:Itih3 UTSW 14 30,634,659 (GRCm39) missense possibly damaging 0.82
R7133:Itih3 UTSW 14 30,639,655 (GRCm39) missense probably damaging 1.00
R7419:Itih3 UTSW 14 30,636,730 (GRCm39) missense probably benign 0.41
R7592:Itih3 UTSW 14 30,630,722 (GRCm39) missense probably damaging 0.98
R7598:Itih3 UTSW 14 30,639,334 (GRCm39) missense possibly damaging 0.95
R7662:Itih3 UTSW 14 30,639,287 (GRCm39) missense probably benign 0.00
R8183:Itih3 UTSW 14 30,631,433 (GRCm39) missense probably benign
R8682:Itih3 UTSW 14 30,642,673 (GRCm39) missense possibly damaging 0.81
R8723:Itih3 UTSW 14 30,630,761 (GRCm39) missense probably damaging 1.00
R8794:Itih3 UTSW 14 30,634,854 (GRCm39) missense possibly damaging 0.71
R8892:Itih3 UTSW 14 30,637,635 (GRCm39) missense probably benign
R9358:Itih3 UTSW 14 30,643,885 (GRCm39) nonsense probably null
R9399:Itih3 UTSW 14 30,643,335 (GRCm39) missense probably benign 0.37
R9476:Itih3 UTSW 14 30,631,416 (GRCm39) missense probably benign 0.14
R9510:Itih3 UTSW 14 30,631,416 (GRCm39) missense probably benign 0.14
R9649:Itih3 UTSW 14 30,637,605 (GRCm39) missense possibly damaging 0.92
R9690:Itih3 UTSW 14 30,640,264 (GRCm39) missense probably benign
R9709:Itih3 UTSW 14 30,637,587 (GRCm39) critical splice donor site probably null
R9749:Itih3 UTSW 14 30,641,279 (GRCm39) missense probably damaging 1.00
Y5408:Itih3 UTSW 14 30,643,902 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-09-17