Incidental Mutation 'R7458:Itih1'
ID 578268
Institutional Source Beutler Lab
Gene Symbol Itih1
Ensembl Gene ENSMUSG00000006529
Gene Name inter-alpha trypsin inhibitor, heavy chain 1
Synonyms Intin1, inter-alpha (globulin) inhibitor, H1 polypeptide, Itih-1
MMRRC Submission 045532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R7458 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 30651137-30665246 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 30665223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000006704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]
AlphaFold Q61702
Predicted Effect probably null
Transcript: ENSMUST00000006704
AA Change: M1V
SMART Domains Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: M1V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VIT 34 167 6e-79 SMART
low complexity region 240 251 N/A INTRINSIC
VWA 291 472 2.1e-32 SMART
Blast:VWA 528 577 5e-21 BLAST
Pfam:ITI_HC_C 706 892 2.1e-65 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163118
AA Change: M1V
SMART Domains Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: M1V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VIT 34 163 2.44e-80 SMART
low complexity region 236 247 N/A INTRINSIC
VWA 287 468 3.43e-30 SMART
Blast:VWA 524 573 5e-21 BLAST
Pfam:ITI_HC_C 701 888 5.3e-81 PFAM
Meta Mutation Damage Score 0.8841 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: This gene encodes a heavy chain of inter-alpha trypsin inhibitor (IaI) family of plasma serine protease inhibitors. IaI proteins are protein-glycosaminoglycan-protein complexes comprised of two heavy chains and a light chain. The encoded protein covalently associates with the light chain via a chondroitin sulfate moiety. Intravenous administration of the encoded protein improved survival of mice after infection with Escherichia coli. This gene is located adjacent to two other IaI heavy chain genes. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature protein. [provided by RefSeq, Oct 2015]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,338,510 (GRCm39) V501M probably benign Het
Abca13 T C 11: 9,240,777 (GRCm39) F880S possibly damaging Het
AI182371 T A 2: 34,976,516 (GRCm39) R206S possibly damaging Het
Akr1a1 A T 4: 116,495,014 (GRCm39) M286K possibly damaging Het
Aldh8a1 A G 10: 21,271,492 (GRCm39) E406G possibly damaging Het
Ambra1 T A 2: 91,748,029 (GRCm39) V1255D probably benign Het
Apol7e C T 15: 77,598,604 (GRCm39) T23I probably benign Het
Armh4 T C 14: 49,920,196 (GRCm39) Y711C probably damaging Het
Boc T C 16: 44,307,119 (GRCm39) E1034G Het
Bricd5 T C 17: 24,693,476 (GRCm39) I39T probably damaging Het
Ccne1 T C 7: 37,800,096 (GRCm39) T163A probably damaging Het
Cct7 T C 6: 85,436,978 (GRCm39) V72A probably benign Het
Cdh3 A G 8: 107,263,779 (GRCm39) D199G probably damaging Het
Clip1 T G 5: 123,778,609 (GRCm39) E438A probably damaging Het
Col4a4 T C 1: 82,476,669 (GRCm39) I553M unknown Het
Csmd1 A T 8: 16,003,738 (GRCm39) N2605K probably damaging Het
Dnajc10 T A 2: 80,155,094 (GRCm39) probably null Het
Fbn1 T A 2: 125,161,036 (GRCm39) D2168V probably benign Het
G2e3 T A 12: 51,412,290 (GRCm39) N443K possibly damaging Het
Gak T C 5: 108,730,940 (GRCm39) D822G probably benign Het
Gm9493 A G 19: 23,597,277 (GRCm39) I58V probably benign Het
Gpr65 T G 12: 98,242,324 (GRCm39) S326A probably damaging Het
Irs2 T C 8: 11,057,739 (GRCm39) E231G probably damaging Het
Itga1 T C 13: 115,122,802 (GRCm39) D718G probably benign Het
Lgr5 A G 10: 115,293,660 (GRCm39) probably null Het
Lipn A G 19: 34,049,242 (GRCm39) N136S probably benign Het
Lrrc37a G A 11: 103,388,258 (GRCm39) T2389I unknown Het
Myo7b G A 18: 32,121,604 (GRCm39) A767V possibly damaging Het
Necab1 A T 4: 15,111,244 (GRCm39) S61R possibly damaging Het
Or5m8 A G 2: 85,822,994 (GRCm39) T278A probably damaging Het
Phyhip G A 14: 70,699,260 (GRCm39) R21H probably damaging Het
Pls1 G A 9: 95,667,560 (GRCm39) T116I probably damaging Het
Pnn C A 12: 59,119,200 (GRCm39) S594R unknown Het
Psen1 T A 12: 83,761,540 (GRCm39) I114N probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,188 (GRCm39) V82E probably damaging Het
Slc25a44 A G 3: 88,323,368 (GRCm39) I246T probably benign Het
Slc2a13 T A 15: 91,296,390 (GRCm39) Y308F probably benign Het
Sntb2 C A 8: 107,662,930 (GRCm39) A166E possibly damaging Het
Tas2r135 T A 6: 42,382,881 (GRCm39) V140D possibly damaging Het
Tdrd6 T C 17: 43,935,937 (GRCm39) T1704A probably benign Het
Txndc12 A G 4: 108,718,606 (GRCm39) D159G probably benign Het
Ubash3a T C 17: 31,427,139 (GRCm39) L16P probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Vmn2r108 T C 17: 20,692,532 (GRCm39) D108G probably benign Het
Vmn2r58 C A 7: 41,487,123 (GRCm39) A591S probably benign Het
Wdpcp T C 11: 21,698,919 (GRCm39) I566T probably damaging Het
Zfp866 T A 8: 70,218,202 (GRCm39) K473* probably null Het
Other mutations in Itih1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Itih1 APN 14 30,651,778 (GRCm39) missense probably benign 0.26
IGL00227:Itih1 APN 14 30,664,846 (GRCm39) splice site probably null
IGL00902:Itih1 APN 14 30,654,439 (GRCm39) splice site probably benign
IGL02194:Itih1 APN 14 30,652,322 (GRCm39) missense probably benign 0.01
IGL02221:Itih1 APN 14 30,651,544 (GRCm39) missense probably damaging 1.00
IGL02292:Itih1 APN 14 30,655,312 (GRCm39) splice site probably null
IGL02733:Itih1 APN 14 30,658,677 (GRCm39) missense probably damaging 1.00
IGL02928:Itih1 APN 14 30,659,715 (GRCm39) missense probably damaging 1.00
IGL03064:Itih1 APN 14 30,663,514 (GRCm39) missense probably benign 0.09
1mM(1):Itih1 UTSW 14 30,651,807 (GRCm39) missense probably damaging 1.00
R0092:Itih1 UTSW 14 30,662,820 (GRCm39) splice site probably benign
R0647:Itih1 UTSW 14 30,657,820 (GRCm39) missense probably damaging 1.00
R0662:Itih1 UTSW 14 30,655,317 (GRCm39) missense possibly damaging 0.63
R0744:Itih1 UTSW 14 30,663,512 (GRCm39) missense probably damaging 1.00
R0833:Itih1 UTSW 14 30,663,512 (GRCm39) missense probably damaging 1.00
R1070:Itih1 UTSW 14 30,664,413 (GRCm39) splice site probably benign
R1397:Itih1 UTSW 14 30,651,862 (GRCm39) splice site probably benign
R1797:Itih1 UTSW 14 30,651,856 (GRCm39) missense probably damaging 1.00
R1898:Itih1 UTSW 14 30,654,244 (GRCm39) missense probably benign
R1964:Itih1 UTSW 14 30,651,580 (GRCm39) missense probably damaging 1.00
R1967:Itih1 UTSW 14 30,663,941 (GRCm39) missense possibly damaging 0.67
R2086:Itih1 UTSW 14 30,659,800 (GRCm39) missense probably damaging 1.00
R2155:Itih1 UTSW 14 30,660,028 (GRCm39) missense probably damaging 1.00
R2156:Itih1 UTSW 14 30,655,432 (GRCm39) missense possibly damaging 0.88
R2225:Itih1 UTSW 14 30,651,534 (GRCm39) missense possibly damaging 0.88
R3836:Itih1 UTSW 14 30,657,785 (GRCm39) missense probably damaging 1.00
R3837:Itih1 UTSW 14 30,657,785 (GRCm39) missense probably damaging 1.00
R3839:Itih1 UTSW 14 30,657,785 (GRCm39) missense probably damaging 1.00
R4388:Itih1 UTSW 14 30,663,512 (GRCm39) missense possibly damaging 0.93
R4504:Itih1 UTSW 14 30,657,842 (GRCm39) missense probably damaging 1.00
R4618:Itih1 UTSW 14 30,651,788 (GRCm39) missense probably benign 0.33
R4682:Itih1 UTSW 14 30,659,800 (GRCm39) missense probably damaging 1.00
R4856:Itih1 UTSW 14 30,658,658 (GRCm39) critical splice donor site probably null
R4886:Itih1 UTSW 14 30,658,658 (GRCm39) critical splice donor site probably null
R5169:Itih1 UTSW 14 30,655,403 (GRCm39) nonsense probably null
R5773:Itih1 UTSW 14 30,657,356 (GRCm39) missense possibly damaging 0.89
R5875:Itih1 UTSW 14 30,651,487 (GRCm39) missense probably benign
R6048:Itih1 UTSW 14 30,651,780 (GRCm39) missense possibly damaging 0.89
R6077:Itih1 UTSW 14 30,651,833 (GRCm39) missense possibly damaging 0.75
R6175:Itih1 UTSW 14 30,653,152 (GRCm39) missense probably damaging 1.00
R6228:Itih1 UTSW 14 30,653,217 (GRCm39) missense probably benign 0.00
R6664:Itih1 UTSW 14 30,655,393 (GRCm39) missense probably damaging 1.00
R6675:Itih1 UTSW 14 30,651,798 (GRCm39) missense possibly damaging 0.50
R7059:Itih1 UTSW 14 30,653,266 (GRCm39) missense possibly damaging 0.93
R7168:Itih1 UTSW 14 30,656,064 (GRCm39) missense probably null 0.98
R7408:Itih1 UTSW 14 30,665,117 (GRCm39) missense probably benign 0.00
R7717:Itih1 UTSW 14 30,653,142 (GRCm39) missense probably damaging 1.00
R8016:Itih1 UTSW 14 30,657,251 (GRCm39) missense probably damaging 0.96
R8035:Itih1 UTSW 14 30,664,482 (GRCm39) missense probably benign 0.25
R8111:Itih1 UTSW 14 30,654,225 (GRCm39) missense probably damaging 0.99
R8131:Itih1 UTSW 14 30,663,521 (GRCm39) missense probably damaging 1.00
R8171:Itih1 UTSW 14 30,659,047 (GRCm39) missense possibly damaging 0.80
R8769:Itih1 UTSW 14 30,655,381 (GRCm39) missense probably damaging 1.00
R8947:Itih1 UTSW 14 30,657,866 (GRCm39) splice site probably benign
R8960:Itih1 UTSW 14 30,655,414 (GRCm39) missense probably damaging 1.00
R9022:Itih1 UTSW 14 30,652,327 (GRCm39) missense probably benign 0.01
R9065:Itih1 UTSW 14 30,657,833 (GRCm39) missense probably damaging 1.00
R9266:Itih1 UTSW 14 30,652,222 (GRCm39) missense probably damaging 0.98
R9296:Itih1 UTSW 14 30,653,251 (GRCm39) missense probably benign 0.15
R9525:Itih1 UTSW 14 30,658,711 (GRCm39) missense probably benign 0.43
R9654:Itih1 UTSW 14 30,664,870 (GRCm39) missense probably damaging 1.00
Z1177:Itih1 UTSW 14 30,651,529 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTCTTCAAGAAGAAATGATCAGTGGG -3'
(R):5'- TCCAGAGCTTAGTGCATGGC -3'

Sequencing Primer
(F):5'- AGGCTCATGTCCCTGATGCAG -3'
(R):5'- TGCATGGCACCTACCAAC -3'
Posted On 2019-10-07