Incidental Mutation 'R3839:Itih1'
ID 277071
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 040892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R3839 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 30651137-30665246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30657785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 429 (N429Y)
Ref Sequence ENSEMBL: ENSMUSP00000126449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]
AlphaFold Q61702
Predicted Effect probably damaging
Transcript: ENSMUST00000006704
AA Change: N433Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: N433Y

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 damaging
Transcript: ENSMUST00000163118
AA Change: N429Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: N429Y

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 0.1253 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (48/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Abraxas2 T A 7: 132,484,867 (GRCm39) S303R probably benign Het
Ackr3 G A 1: 90,141,850 (GRCm39) S103N probably damaging Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Cald1 A T 6: 34,722,700 (GRCm39) D122V probably damaging Het
Cc2d2a T C 5: 43,876,056 (GRCm39) V1011A probably benign Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Cmbl T C 15: 31,582,144 (GRCm39) V47A probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctnnd2 T A 15: 31,009,174 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,382,544 (GRCm39) E278A possibly damaging Het
Ddx56 T C 11: 6,217,712 (GRCm39) D3G probably benign Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Eif3d T A 15: 77,848,300 (GRCm39) T211S probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Garnl3 C T 2: 32,879,558 (GRCm39) G923S probably benign Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Glra2 C T X: 164,072,612 (GRCm39) V85I probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gpr156 T A 16: 37,808,962 (GRCm39) V228D probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itga3 A G 11: 94,948,095 (GRCm39) probably null Het
Klhl40 A G 9: 121,609,482 (GRCm39) Y453C possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Rala A T 13: 18,067,759 (GRCm39) C91S probably damaging Het
Rps9 A G 7: 3,709,823 (GRCm39) probably benign Het
Sdr16c5 C A 4: 4,006,601 (GRCm39) M230I probably damaging Het
Sec14l3 A G 11: 4,021,544 (GRCm39) probably null Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Skor1 A C 9: 63,051,730 (GRCm39) S746R probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc47a1 G T 11: 61,243,884 (GRCm39) probably benign Het
Slit3 A T 11: 35,399,064 (GRCm39) N143I probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r109 A G 17: 20,774,704 (GRCm39) V217A probably damaging Het
Zfp108 A G 7: 23,959,981 (GRCm39) I191V probably benign 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
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
R7458:Itih1 UTSW 14 30,665,223 (GRCm39) start codon destroyed probably null
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'- CTTGTGTACTTGACTTCAACTTTGG -3'
(R):5'- TGATCCGGGATGAGAACCTTG -3'

Sequencing Primer
(F):5'- CTCTAGGCTGTTAGGCAAACG -3'
(R):5'- ATGAGAACCTTGCTTCCCAGG -3'
Posted On 2015-04-06