Incidental Mutation 'R9266:Itih1'
ID 702559
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 30651137-30665246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30652222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 824 (S824T)
Ref Sequence ENSEMBL: ENSMUSP00000006704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]
AlphaFold Q61702
Predicted Effect probably damaging
Transcript: ENSMUST00000006704
AA Change: S824T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: S824T

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: S820T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: S820T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C A 17: 36,270,178 (GRCm39) E627* probably null Het
Aoc1l2 A G 6: 48,907,171 (GRCm39) N57S probably benign Het
Arhgap42 A G 9: 9,006,386 (GRCm39) V670A probably benign Het
Arhgef16 C A 4: 154,375,922 (GRCm39) R24L probably benign Het
Atad2 A T 15: 57,985,967 (GRCm39) D251E probably benign Het
Atf2 T C 2: 73,649,271 (GRCm39) S447G probably benign Het
Atp8b1 T C 18: 64,704,108 (GRCm39) M337V probably benign Het
Atp8b1 C T 18: 64,710,528 (GRCm39) D170N possibly damaging Het
Azin2 C A 4: 128,856,230 (GRCm39) probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh19 A G 1: 110,817,771 (GRCm39) L657P probably damaging Het
Crybg3 A T 16: 59,372,544 (GRCm39) V598E probably damaging Het
Cwc22 A G 2: 77,754,952 (GRCm39) I208T probably benign Het
Cyp4a32 T A 4: 115,468,307 (GRCm39) D292E probably damaging Het
Dnah10 G A 5: 124,845,990 (GRCm39) V1510I probably benign Het
Dpp3 G T 19: 4,964,686 (GRCm39) Y540* probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Elf1 A G 14: 79,798,290 (GRCm39) D59G probably benign Het
Epc1 A T 18: 6,449,219 (GRCm39) M476K probably benign Het
Espnl C A 1: 91,272,771 (GRCm39) S710R probably benign Het
Fam171b T C 2: 83,683,926 (GRCm39) W148R probably damaging Het
Fhod1 A G 8: 106,065,531 (GRCm39) L88P unknown Het
Frmd4a A G 2: 4,610,846 (GRCm39) S999G probably damaging Het
Glmp T C 3: 88,233,036 (GRCm39) I58T probably damaging Het
Gm45861 T A 8: 28,074,674 (GRCm39) D1341E unknown Het
Gpr179 A G 11: 97,227,766 (GRCm39) I1463T probably benign Het
Gsdmc2 T C 15: 63,698,088 (GRCm39) E339G probably damaging Het
Insm1 A T 2: 146,064,933 (GRCm39) I250F probably damaging Het
Insm1 G A 2: 146,064,943 (GRCm39) G253D possibly damaging Het
Lactb A G 9: 66,878,499 (GRCm39) Y190H possibly damaging Het
Lrba T C 3: 86,198,774 (GRCm39) M197T probably benign Het
Lrrc4c A G 2: 97,459,853 (GRCm39) I160V probably benign Het
Lrrc59 A T 11: 94,532,044 (GRCm39) probably null Het
Ltk A T 2: 119,585,121 (GRCm39) M425K possibly damaging Het
Map9 T C 3: 82,278,594 (GRCm39) V198A possibly damaging Het
Mms22l T C 4: 24,578,878 (GRCm39) Y746H probably damaging Het
Ms4a4b A G 19: 11,432,060 (GRCm39) I60M probably benign Het
Mtif2 T C 11: 29,480,065 (GRCm39) W44R probably benign Het
Nadsyn1 A T 7: 143,369,348 (GRCm39) W128R probably damaging Het
Nrcam G A 12: 44,636,917 (GRCm39) A1117T probably damaging Het
Ntng1 G A 3: 110,050,923 (GRCm39) probably benign Het
Ntng1 A G 3: 110,051,162 (GRCm39) F56L unknown Het
Oas2 A T 5: 120,887,637 (GRCm39) Y68N probably damaging Het
Or4c119 A T 2: 88,986,854 (GRCm39) F222I possibly damaging Het
Or5b101 A C 19: 13,005,648 (GRCm39) L15R probably damaging Het
Or6c6c T C 10: 129,541,547 (GRCm39) S267P probably benign Het
Pals2 T C 6: 50,140,463 (GRCm39) M161T probably benign Het
Paqr8 C T 1: 21,005,863 (GRCm39) T339I probably benign Het
Pcdhga10 A G 18: 37,881,814 (GRCm39) E525G probably benign Het
Psg28 T G 7: 18,161,752 (GRCm39) L250F probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc16a4 A T 3: 107,199,788 (GRCm39) T12S probably benign Het
Slc9b1 A G 3: 135,054,468 (GRCm39) probably benign Het
Slit3 T C 11: 35,598,808 (GRCm39) S1471P probably damaging Het
Smpdl3a T C 10: 57,678,596 (GRCm39) V133A possibly damaging Het
Snap23 C T 2: 120,414,781 (GRCm39) probably benign Het
Spp2 A G 1: 88,344,975 (GRCm39) M146V probably benign Het
Syf2 C A 4: 134,663,321 (GRCm39) N164K possibly damaging Het
Sync T G 4: 129,187,179 (GRCm39) Y70* probably null Het
Tex56 A G 13: 35,116,569 (GRCm39) K106R possibly damaging Het
Tmigd3 T C 3: 105,824,216 (GRCm39) F62L probably benign Het
Trpa1 C T 1: 14,980,953 (GRCm39) probably null Het
U2surp A T 9: 95,366,468 (GRCm39) I480N probably damaging Het
Usf3 C T 16: 44,040,095 (GRCm39) T1525I probably damaging Het
Vmn2r2 T C 3: 64,024,057 (GRCm39) I841M probably damaging Het
Zfp335 T A 2: 164,738,007 (GRCm39) Q868L probably benign Het
Zscan10 A G 17: 23,828,385 (GRCm39) E309G possibly damaging 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
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
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'- TGAAGTGATGTTTTGCCCATC -3'
(R):5'- AATCTTGTCCCGATGCCTGC -3'

Sequencing Primer
(F):5'- AGCTTTTGTCTCATCCTACATTTGG -3'
(R):5'- CCTGCCTGGCCCTGCAG -3'
Posted On 2022-03-25