Incidental Mutation 'R4856:Itih1'
ID 374552
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 042467-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R4856 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 30651137-30665246 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 30658658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]
AlphaFold Q61702
Predicted Effect probably null
Transcript: ENSMUST00000006704
SMART Domains Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529

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
SMART Domains Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 G A 6: 140,589,799 (GRCm39) probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp2b4 T A 1: 133,634,518 (GRCm39) I1177L probably benign Het
Bub3 A T 7: 131,163,297 (GRCm39) D76V probably damaging Het
Cacna2d4 G A 6: 119,255,217 (GRCm39) R578Q possibly damaging Het
Caprin2 A C 6: 148,774,509 (GRCm39) S268A probably benign Het
Card6 T C 15: 5,134,623 (GRCm39) probably null Het
Cdk13 A G 13: 17,894,319 (GRCm39) S1103P probably benign Het
Cfap221 T C 1: 119,861,934 (GRCm39) T614A probably damaging Het
Cfap221 T A 1: 119,912,488 (GRCm39) Y133F probably damaging Het
Clcc1 A G 3: 108,584,154 (GRCm39) T513A probably benign Het
Clec4g T A 8: 3,766,419 (GRCm39) probably benign Het
Cntln A C 4: 84,889,466 (GRCm39) E316D probably benign Het
Cpne2 T A 8: 95,290,592 (GRCm39) D392E probably benign Het
Cry1 G T 10: 84,984,634 (GRCm39) P147T probably damaging Het
Cyp4a29 T C 4: 115,110,078 (GRCm39) V440A probably benign Het
Ddx46 A G 13: 55,786,012 (GRCm39) D64G unknown Het
Dhx34 A G 7: 15,949,367 (GRCm39) S354P possibly damaging Het
Ecm2 A T 13: 49,676,263 (GRCm39) I327F possibly damaging Het
Elavl3 T C 9: 21,937,614 (GRCm39) K189E possibly damaging Het
Enam A T 5: 88,636,593 (GRCm39) R82* probably null Het
Erf A G 7: 24,945,636 (GRCm39) V45A probably damaging Het
Fat3 T A 9: 15,932,626 (GRCm39) I1436F probably benign Het
Flnc T C 6: 29,447,889 (GRCm39) Y1231H probably damaging Het
Ggta1 T A 2: 35,292,803 (GRCm39) H180L possibly damaging Het
Grin2c T C 11: 115,151,616 (GRCm39) T115A probably damaging Het
H6pd C T 4: 150,067,235 (GRCm39) V384M possibly damaging Het
Hba-x A G 11: 32,227,008 (GRCm39) E39G probably benign Het
Hnrnpul2 C T 19: 8,807,191 (GRCm39) P618S probably benign Het
Hpse2 C T 19: 42,777,396 (GRCm39) R590H probably damaging Het
Ighv1-54 C A 12: 115,157,423 (GRCm39) G75C probably damaging Het
Ighv8-11 C A 12: 115,530,774 (GRCm39) R118L possibly damaging Het
Iqcm A T 8: 76,615,228 (GRCm39) R436S possibly damaging Het
Islr T C 9: 58,064,889 (GRCm39) D206G probably damaging Het
Jam2 G A 16: 84,598,490 (GRCm39) D34N probably benign Het
Klhl14 A T 18: 21,691,029 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lrrc66 A G 5: 73,765,910 (GRCm39) F378L probably benign Het
Map10 T A 8: 126,397,431 (GRCm39) Y275N probably damaging Het
Mpi T C 9: 57,452,590 (GRCm39) Y314C probably damaging Het
Mpp3 A G 11: 101,915,962 (GRCm39) Y55H probably benign Het
Nectin4 T C 1: 171,212,383 (GRCm39) V327A possibly damaging Het
Nlrp12 T A 7: 3,289,072 (GRCm39) D480V probably damaging Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Notch2 A T 3: 98,009,735 (GRCm39) Y554F probably damaging Het
Nrsn2 T C 2: 152,211,531 (GRCm39) K167E probably benign Het
Olr1 T A 6: 129,470,559 (GRCm39) K203* probably null Het
Or14j8 A T 17: 38,262,962 (GRCm39) S318T probably benign Het
Or2ag13 T A 7: 106,473,177 (GRCm39) I92F probably damaging Het
Or5b117 T C 19: 13,431,885 (GRCm39) probably null Het
Or8b3 A T 9: 38,314,764 (GRCm39) N195I probably damaging Het
Or9i2 T A 19: 13,815,643 (GRCm39) E298V probably damaging Het
Osbpl9 T C 4: 108,925,564 (GRCm39) N485S probably benign Het
Pbk T A 14: 66,052,650 (GRCm39) H164Q probably damaging Het
Pfn2 G T 3: 57,754,874 (GRCm39) N10K probably damaging Het
Pik3ca A G 3: 32,491,312 (GRCm39) D133G probably damaging Het
Pramel27 G T 4: 143,579,873 (GRCm39) R486L probably benign Het
Prl6a1 A T 13: 27,502,983 (GRCm39) D193V probably damaging Het
Rad21 G T 15: 51,831,896 (GRCm39) P395Q probably damaging Het
Reps1 T A 10: 17,999,373 (GRCm39) I720N probably damaging Het
Rpn2 T C 2: 157,159,964 (GRCm39) probably null Het
Rreb1 G A 13: 38,115,034 (GRCm39) V798M possibly damaging Het
Sardh C T 2: 27,134,489 (GRCm39) R9H probably benign Het
Scgb3a2 C T 18: 43,899,819 (GRCm39) P36S probably damaging Het
Scn10a C A 9: 119,523,375 (GRCm39) G6V possibly damaging Het
Scn10a C T 9: 119,523,376 (GRCm39) G6R possibly damaging Het
Scn3a T C 2: 65,291,376 (GRCm39) D1790G probably damaging Het
Sec24b A T 3: 129,777,619 (GRCm39) H1226Q probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc12a3 G A 8: 95,078,438 (GRCm39) probably null Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
Tex52 A T 6: 128,361,951 (GRCm39) probably null Het
Tma16 A C 8: 66,934,129 (GRCm39) C75W probably damaging Het
Tmem67 G A 4: 12,089,416 (GRCm39) probably benign Het
Trgv4 T C 13: 19,369,236 (GRCm39) V29A probably benign Het
Trmt10a A T 3: 137,854,146 (GRCm39) K75* probably null Het
Ttc3 T C 16: 94,191,142 (GRCm39) V228A probably benign Het
Ttn T C 2: 76,561,644 (GRCm39) D28954G probably damaging Het
Uggt2 A G 14: 119,273,376 (GRCm39) probably null Het
Vars1 T A 17: 35,234,702 (GRCm39) V1177E probably benign Het
Vmn1r59 T C 7: 5,457,532 (GRCm39) D76G possibly damaging Het
Vmn2r114 G T 17: 23,527,008 (GRCm39) A508E probably benign Het
Vps41 G A 13: 19,013,425 (GRCm39) V348M probably damaging Het
Zbtb43 T C 2: 33,343,944 (GRCm39) H427R probably 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
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'- TTACCAACTCGCAGGACAGAG -3'
(R):5'- GGCATCATGTCTGTTTCAATGG -3'

Sequencing Primer
(F):5'- TCGCAGGACAGAGGTGCG -3'
(R):5'- TGGAATATGACTGTACACTAGTCC -3'
Posted On 2016-03-16