Incidental Mutation 'R6785:Itih3'
ID 531642
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 044899-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6785 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30630529-30645717 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 30634572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006697] [ENSMUST00000226547] [ENSMUST00000227995] [ENSMUST00000228114]
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: ENSMUST00000226547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228114
Meta Mutation Damage Score 0.9472 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acad12 T C 5: 121,747,908 (GRCm39) Y170C probably damaging Het
Acss2 T C 2: 155,402,605 (GRCm39) V587A probably damaging Het
Adamtsl3 A G 7: 82,171,212 (GRCm39) I422V probably damaging Het
Aldh18a1 A G 19: 40,556,788 (GRCm39) L375P probably damaging Het
B020011L13Rik A G 1: 117,728,799 (GRCm39) D102G possibly damaging Het
Cfap74 T A 4: 155,538,481 (GRCm39) probably benign Het
Coa4 G A 7: 100,188,460 (GRCm39) V58M probably damaging Het
Crybg1 T C 10: 43,875,167 (GRCm39) N647S probably benign Het
Dync1h1 G A 12: 110,596,113 (GRCm39) G1547S probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Fasl T A 1: 161,609,404 (GRCm39) Y194F probably benign Het
Fbxw8 T C 5: 118,230,754 (GRCm39) E349G probably damaging Het
Gen1 A G 12: 11,312,531 (GRCm39) V13A possibly damaging Het
Gm4559 A G 7: 141,827,845 (GRCm39) C86R unknown Het
H2-M9 T C 17: 36,953,125 (GRCm39) N61D probably damaging Het
H6pd C T 4: 150,067,247 (GRCm39) E380K possibly damaging Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Hnrnpd C A 5: 100,126,283 (GRCm39) K67N probably benign Het
Hspg2 T C 4: 137,235,709 (GRCm39) S170P probably damaging Het
Igsf10 G T 3: 59,226,665 (GRCm39) P2336Q probably damaging Het
Katnb1 T C 8: 95,822,270 (GRCm39) Y298H probably benign Het
Kif21a A T 15: 90,819,933 (GRCm39) N1610K probably damaging Het
Lce1l A T 3: 92,757,500 (GRCm39) C119* probably null Het
Lcn2 C T 2: 32,277,039 (GRCm39) probably null Het
Lmf2 A T 15: 89,236,236 (GRCm39) S588T probably benign Het
Mboat7 A G 7: 3,688,835 (GRCm39) L231P probably benign Het
Mier2 T C 10: 79,380,547 (GRCm39) R288G probably damaging Het
Mybbp1a T C 11: 72,338,392 (GRCm39) V694A probably benign Het
Ndnf C A 6: 65,680,047 (GRCm39) L109I probably benign Het
Nfkb1 C A 3: 135,321,064 (GRCm39) E230D probably benign Het
Nostrin A G 2: 69,014,271 (GRCm39) K409R probably benign Het
Or1j10 A G 2: 36,266,854 (GRCm39) Q22R probably benign Het
Or1j10 C A 2: 36,266,963 (GRCm39) Y58* probably null Het
Or8k35 T A 2: 86,424,765 (GRCm39) M136L probably damaging Het
Pdpr C A 8: 111,851,243 (GRCm39) T534N probably benign Het
Plekhf1 G A 7: 37,921,488 (GRCm39) Q27* probably null Het
Ppp6c A T 2: 39,087,593 (GRCm39) H204Q probably benign Het
Prrc2c T C 1: 162,536,670 (GRCm39) probably benign Het
Prrg2 A G 7: 44,709,649 (GRCm39) F83L probably damaging Het
Rab11fip3 T G 17: 26,210,692 (GRCm39) D938A probably damaging Het
Rai1 A G 11: 60,079,620 (GRCm39) N1228S probably benign Het
Ryr1 G T 7: 28,764,299 (GRCm39) T3060K probably benign Het
Scube2 A G 7: 109,409,824 (GRCm39) I557T probably benign Het
Setdb1 C A 3: 95,233,712 (GRCm39) R1066L probably benign Het
Shoc1 T C 4: 59,049,066 (GRCm39) M1100V probably benign Het
Slc35f3 T C 8: 127,121,198 (GRCm39) V353A probably benign Het
Slfn3 A T 11: 83,105,427 (GRCm39) T475S possibly damaging Het
Snrnp200 T A 2: 127,071,085 (GRCm39) M1122K possibly damaging Het
Tead4 T A 6: 128,219,444 (GRCm39) K223* probably null Het
Tex2 A C 11: 106,424,776 (GRCm39) I334R probably damaging Het
Tfdp1 C T 8: 13,420,485 (GRCm39) R105W probably damaging Het
Tfdp1 G T 8: 13,427,233 (GRCm39) V393F possibly damaging Het
Thsd7b T C 1: 129,358,644 (GRCm39) L26P probably damaging Het
Trim80 T C 11: 115,332,027 (GRCm39) I73T probably damaging Het
Tssk4 T A 14: 55,887,932 (GRCm39) Y43N probably damaging Het
Ttn T C 2: 76,541,839 (GRCm39) T25389A probably damaging Het
Ttn A T 2: 76,578,288 (GRCm39) F24202I probably damaging Het
Vmn1r177 A G 7: 23,565,562 (GRCm39) S105P probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Zfp267 T A 3: 36,219,601 (GRCm39) C541* probably null 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
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'- GCACTAGGTACTTAGTGGGTC -3'
(R):5'- TCAAGGTTCAGTGTTACGGG -3'

Sequencing Primer
(F):5'- CACTAGGTACTTAGTGGGTCTTGCTG -3'
(R):5'- AGGAGTCCTGGGAAGTCC -3'
Posted On 2018-08-29