Incidental Mutation 'R8682:Itih3'
ID 661832
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 068537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R8682 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 30630529-30645717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30642673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 204 (I204F)
Ref Sequence ENSEMBL: ENSMUSP00000006697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000227995]
AlphaFold Q61704
Predicted Effect possibly damaging
Transcript: ENSMUST00000006697
AA Change: I204F

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: I204F

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 probably damaging
Transcript: ENSMUST00000227995
AA Change: I204F

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 95.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,314,725 (GRCm39) L141Q probably null Het
Abtb2 A T 2: 103,397,720 (GRCm39) T217S probably benign Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Angpt4 A G 2: 151,769,005 (GRCm39) M172V probably benign Het
Apaf1 A T 10: 90,831,532 (GRCm39) V1194D probably damaging Het
Arhgap30 T C 1: 171,234,970 (GRCm39) S479P probably benign Het
Asah2 C T 19: 32,030,277 (GRCm39) V132M probably damaging Het
Bmp10 A G 6: 87,410,541 (GRCm39) probably null Het
Bsn T C 9: 107,983,368 (GRCm39) Y790C Het
Cacna2d1 C A 5: 16,558,837 (GRCm39) R732S possibly damaging Het
Casr A T 16: 36,315,784 (GRCm39) F762Y possibly damaging Het
Cbln1 T C 8: 88,198,735 (GRCm39) D45G possibly damaging Het
Cd177 A T 7: 24,459,438 (GRCm39) M61K possibly damaging Het
Cdh11 T C 8: 103,377,348 (GRCm39) I433V probably benign Het
Cdhr5 A G 7: 140,855,899 (GRCm39) probably null Het
Col12a1 T A 9: 79,568,358 (GRCm39) K1622I probably benign Het
Cyp2d9 A G 15: 82,337,917 (GRCm39) D103G probably damaging Het
Dync2i1 A T 12: 116,188,610 (GRCm39) H661Q probably damaging Het
Eif4a3l1 A G 6: 136,306,027 (GRCm39) T163A possibly damaging Het
Fem1b A T 9: 62,704,432 (GRCm39) L276* probably null Het
Fggy T A 4: 95,700,358 (GRCm39) V343E probably damaging Het
Flt3 A G 5: 147,320,265 (GRCm39) V33A probably benign Het
Grn T C 11: 102,325,646 (GRCm39) Y288H probably benign Het
Grtp1 G A 8: 13,229,499 (GRCm39) R272W probably damaging Het
H2-Aa A G 17: 34,502,734 (GRCm39) I144T possibly damaging Het
Herc1 A G 9: 66,370,130 (GRCm39) D469G Het
Hsf2 G A 10: 57,381,267 (GRCm39) E286K possibly damaging Het
Hydin A G 8: 111,035,798 (GRCm39) E163G probably damaging Het
Il6ra A G 3: 89,793,976 (GRCm39) I224T possibly damaging Het
Kcnj9 A T 1: 172,153,680 (GRCm39) M148K possibly damaging Het
Lepr T G 4: 101,649,269 (GRCm39) V890G probably benign Het
Mslnl A G 17: 25,965,962 (GRCm39) D612G probably benign Het
Myl2 T A 5: 122,244,798 (GRCm39) V156D probably damaging Het
Neb C A 2: 52,136,857 (GRCm39) W3208L probably damaging Het
Neto2 T C 8: 86,367,295 (GRCm39) Y511C probably benign Het
Obi1 G T 14: 104,717,669 (GRCm39) R235S probably damaging Het
Obox2 C A 7: 15,130,912 (GRCm39) T48K possibly damaging Het
Or14a259 C T 7: 86,013,373 (GRCm39) M57I probably damaging Het
Or51f2 T A 7: 102,526,646 (GRCm39) F106L probably benign Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Osbpl6 C G 2: 76,407,425 (GRCm39) H486D probably benign Het
Pfkfb3 T C 2: 11,489,144 (GRCm39) K264E probably benign Het
Phf11 G A 14: 59,496,033 (GRCm39) T27I probably benign Het
Pla2r1 T A 2: 60,253,120 (GRCm39) T1324S possibly damaging Het
Plekhg1 A T 10: 3,897,523 (GRCm39) Y495F Het
Ppp2r5d T C 17: 46,997,989 (GRCm39) K225E probably benign Het
Ptpn11 T C 5: 121,306,053 (GRCm39) D64G possibly damaging Het
Ptprs A G 17: 56,742,849 (GRCm39) I431T probably damaging Het
Rapgef5 T C 12: 117,545,432 (GRCm39) S100P probably benign Het
Shh T A 5: 28,663,058 (GRCm39) H370L probably benign Het
Siah3 A T 14: 75,763,043 (GRCm39) H98L possibly damaging Het
Sim2 C T 16: 93,924,192 (GRCm39) H446Y probably benign Het
Skint4 T C 4: 111,993,237 (GRCm39) I320T possibly damaging Het
Sorcs1 A T 19: 50,367,398 (GRCm39) N221K probably damaging Het
Sox6 T C 7: 115,076,191 (GRCm39) S816G probably damaging Het
Sphkap T C 1: 83,256,997 (GRCm39) T251A probably benign Het
Stard9 T C 2: 120,533,796 (GRCm39) V3351A possibly damaging Het
Tbc1d15 A G 10: 115,046,195 (GRCm39) V436A probably benign Het
Thsd7b A T 1: 129,688,011 (GRCm39) K641* probably null Het
Tmc5 G T 7: 118,269,925 (GRCm39) V892F possibly damaging Het
Tpsab1 T A 17: 25,562,685 (GRCm39) H238L probably benign Het
Trank1 A G 9: 111,194,412 (GRCm39) N812S probably benign Het
Trio T A 15: 27,905,278 (GRCm39) N163Y unknown Het
Ttc39d A G 17: 80,524,693 (GRCm39) T451A probably benign Het
Ube3b T C 5: 114,550,351 (GRCm39) L832P probably damaging Het
Vmn2r15 C A 5: 109,441,938 (GRCm39) C165F probably damaging Het
Vmn2r90 T C 17: 17,932,344 (GRCm39) F84L possibly damaging Het
Wdr95 C T 5: 149,518,752 (GRCm39) T531I possibly damaging Het
Zcrb1 C A 15: 93,284,118 (GRCm39) G191V probably benign Het
Zfp111 G A 7: 23,897,983 (GRCm39) P544S probably damaging Het
Zfyve9 T C 4: 108,576,539 (GRCm39) S181G probably benign 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
R2056:Itih3 UTSW 14 30,631,481 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- CCTGATGACCCAGTTGACTGAG -3'
(R):5'- AATGTTTTGTGCCACCATACCC -3'

Sequencing Primer
(F):5'- CCCAGTTGACTGAGGAGAAC -3'
(R):5'- GTAGTCATCACTATCATCCGGGAG -3'
Posted On 2021-03-08