Incidental Mutation 'R4676:Itih3'
ID 349600
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 042013-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R4676 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30630529-30645717 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30643643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 121 (Q121L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000227995]
AlphaFold Q61704
Predicted Effect probably benign
Transcript: ENSMUST00000006697
AA Change: Q121L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000006697
Gene: ENSMUSG00000006522
AA Change: Q121L

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 possibly damaging
Transcript: ENSMUST00000170415
AA Change: Q121L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133027
Gene: ENSMUSG00000006522
AA Change: Q121L

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: ENSMUST00000227181
Predicted Effect possibly damaging
Transcript: ENSMUST00000227995
AA Change: Q121L

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1271 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (93/95)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,078,382 (GRCm39) I13N probably damaging Het
Abcd3 T A 3: 121,567,815 (GRCm39) T409S possibly damaging Het
Acad12 C A 5: 121,745,234 (GRCm39) W317L probably damaging Het
Acap1 T A 11: 69,780,294 (GRCm39) M50L probably benign Het
Acvr1b T A 15: 101,100,867 (GRCm39) V343E probably damaging Het
Adgb C A 10: 10,302,454 (GRCm39) G371W probably damaging Het
Akap9 A G 5: 4,082,774 (GRCm39) K1966R probably damaging Het
Akap9 C T 5: 4,114,515 (GRCm39) Q48* probably null Het
Ano10 T C 9: 122,092,853 (GRCm39) R159G probably damaging Het
Anxa7 T C 14: 20,517,983 (GRCm39) M128V probably benign Het
Arhgef40 C A 14: 52,228,416 (GRCm39) C554* probably null Het
Atf6 T C 1: 170,614,979 (GRCm39) Y538C probably damaging Het
Atp8b1 A C 18: 64,671,749 (GRCm39) D1091E probably benign Het
BC034090 A G 1: 155,102,010 (GRCm39) Y85H possibly damaging Het
Bcas2 A G 3: 103,083,017 (GRCm39) probably benign Het
Bnc2 T C 4: 84,211,056 (GRCm39) N463D probably damaging Het
Capn7 A T 14: 31,081,216 (GRCm39) H411L possibly damaging Het
Cavin3 T C 7: 105,130,320 (GRCm39) E164G probably damaging Het
Ccdc191 T C 16: 43,759,536 (GRCm39) probably benign Het
Ccdc88b A G 19: 6,830,368 (GRCm39) V858A probably benign Het
Clcn3 A G 8: 61,383,685 (GRCm39) probably benign Het
Commd6 T C 14: 101,877,720 (GRCm39) probably benign Het
Cspg4b C A 13: 113,505,341 (GRCm39) L2157I probably damaging Het
Cspg4b T G 13: 113,505,342 (GRCm39) L2157R probably damaging Het
Cul3 G A 1: 80,249,391 (GRCm39) L561F probably damaging Het
Cyfip1 T A 7: 55,524,761 (GRCm39) I131N probably damaging Het
Dlgap3 T A 4: 127,127,554 (GRCm39) Y741N probably damaging Het
Dnaaf10 T C 11: 17,179,794 (GRCm39) V265A probably benign Het
Dnah5 A T 15: 28,295,406 (GRCm39) I1380F possibly damaging Het
Dync1h1 G T 12: 110,628,975 (GRCm39) L4177F probably damaging Het
Ethe1 G A 7: 24,307,319 (GRCm39) V178M probably damaging Het
Flnc A T 6: 29,445,153 (GRCm39) probably null Het
Get3 C T 8: 85,745,502 (GRCm39) A219T probably benign Het
Glt8d1 T C 14: 30,728,649 (GRCm39) F26L probably benign Het
Gm5493 T A 17: 22,967,054 (GRCm39) D63E probably benign Het
Gm9996 T A 10: 29,019,834 (GRCm39) probably benign Het
Gnl2 T G 4: 124,947,266 (GRCm39) S629R possibly damaging Het
Gpbp1l1 T C 4: 116,447,462 (GRCm39) S381P probably damaging Het
Igsf10 A C 3: 59,233,370 (GRCm39) F1788V probably benign Het
Inpp5d C A 1: 87,642,864 (GRCm39) P935Q probably damaging Het
Itch A C 2: 155,041,355 (GRCm39) I468L probably benign Het
Itga5 A T 15: 103,265,637 (GRCm39) Y192N probably damaging Het
Kctd17 T A 15: 78,319,959 (GRCm39) probably benign Het
Lsm1 T C 8: 26,283,717 (GRCm39) L43P probably damaging Het
Magi3 A T 3: 103,923,141 (GRCm39) M1192K probably benign Het
Mecom A G 3: 30,322,817 (GRCm39) probably benign Het
Minar1 A G 9: 89,483,606 (GRCm39) V597A probably damaging Het
Mtmr3 A T 11: 4,477,855 (GRCm39) F63Y probably benign Het
Naa16 A G 14: 79,573,788 (GRCm39) probably benign Het
Neto1 A T 18: 86,416,427 (GRCm39) T45S possibly damaging Het
Nlrp4a A T 7: 26,149,654 (GRCm39) R420S probably damaging Het
Nr1h4 T C 10: 89,309,736 (GRCm39) D317G probably damaging Het
Or8b53 A G 9: 38,666,955 (GRCm39) probably benign Het
Or9i16 C T 19: 13,864,765 (GRCm39) D270N probably damaging Het
Or9q2 T A 19: 13,772,838 (GRCm39) I46F possibly damaging Het
Pde5a A T 3: 122,541,542 (GRCm39) M11L possibly damaging Het
Plxnb1 G A 9: 108,939,503 (GRCm39) R1416Q possibly damaging Het
Polm A T 11: 5,785,749 (GRCm39) Y141* probably null Het
Rxfp1 A G 3: 79,612,975 (GRCm39) F32L probably damaging Het
Scrt1 T A 15: 76,405,868 (GRCm39) D13V possibly damaging Het
Slc1a7 T A 4: 107,834,871 (GRCm39) V79E possibly damaging Het
Snurf T C 7: 59,645,270 (GRCm39) Q48R probably benign Het
Srek1 T C 13: 103,894,695 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,076,246 (GRCm39) S267G probably damaging Het
Taf5 C T 19: 47,063,409 (GRCm39) R320W probably damaging Het
Tars2 A T 3: 95,660,403 (GRCm39) N106K probably damaging Het
Tatdn3 A T 1: 190,781,531 (GRCm39) L207Q probably damaging Het
Tdrd6 T C 17: 43,938,501 (GRCm39) E849G probably damaging Het
Tedc2 T C 17: 24,438,985 (GRCm39) T111A probably benign Het
Tfg T A 16: 56,514,854 (GRCm39) probably null Het
Tgds A T 14: 118,353,643 (GRCm39) S225T probably benign Het
Tnks2 T A 19: 36,852,671 (GRCm39) Y134* probably null Het
Trappc1 T A 11: 69,216,356 (GRCm39) V134D probably damaging Het
Ttc3 C A 16: 94,243,620 (GRCm39) P853Q probably damaging Het
Ttc7 C A 17: 87,678,163 (GRCm39) probably benign Het
Ttf1 A G 2: 28,964,606 (GRCm39) S643G probably damaging Het
Tubgcp3 A T 8: 12,700,171 (GRCm39) S338T probably damaging Het
Ugt1a6a T C 1: 88,067,007 (GRCm39) I271T possibly damaging Het
Vipas39 T A 12: 87,288,075 (GRCm39) Y445F probably damaging Het
Vmn1r31 A C 6: 58,448,998 (GRCm39) I289S probably damaging Het
Zfp112 A G 7: 23,825,685 (GRCm39) E551G probably damaging Het
Zfp397 T A 18: 24,093,854 (GRCm39) Y446* probably null Het
Zfp442 A T 2: 150,251,526 (GRCm39) H124Q 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
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 30,640,906 (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 PCR Primer
(F):5'- CAAGGCTCTGGGTTCAAGTC -3'
(R):5'- TGCCCAAGACAGCCTTCATC -3'

Sequencing Primer
(F):5'- CAAGTCTCAGATCCTAGGTTAGAGAC -3'
(R):5'- ACCAACTTCACCTTGTGGG -3'
Posted On 2015-10-08