Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02292:Itih1'

290093

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02292

Quality Score

Status

Chromosome

Chromosomal Location

30651137-30665246 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 30655312 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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,263,982 (GRCm39)	M51V	probably benign	Het
Abcb5	C	T	12: 118,881,932 (GRCm39)	G599D	probably damaging	Het
Aim2	T	A	1: 173,289,840 (GRCm39)	I261N	probably benign	Het
Alpk3	A	G	7: 80,727,653 (GRCm39)	H261R	possibly damaging	Het
Ankrd12	G	A	17: 66,349,582 (GRCm39)	H84Y	probably damaging	Het
Ankrd17	T	C	5: 90,400,718 (GRCm39)		probably benign	Het
Apc2	C	T	10: 80,138,258 (GRCm39)	P139S	possibly damaging	Het
Cct7	A	G	6: 85,438,091 (GRCm39)	Y111C	probably benign	Het
Cd226	G	A	18: 89,225,216 (GRCm39)	V38I	possibly damaging	Het
Cdh3	A	G	8: 107,271,833 (GRCm39)	Y582C	probably damaging	Het
Csmd1	T	C	8: 16,261,884 (GRCm39)	D871G	probably damaging	Het
Cyp4a31	A	T	4: 115,423,698 (GRCm39)	N133I	probably damaging	Het
Fem1b	T	C	9: 62,703,977 (GRCm39)	I428V	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flrt3	G	A	2: 140,502,045 (GRCm39)	P528S	probably damaging	Het
Gm9476	A	C	10: 100,143,046 (GRCm39)		noncoding transcript	Het
Itgae	T	C	11: 73,009,361 (GRCm39)	I515T	probably damaging	Het
Map3k4	A	G	17: 12,454,045 (GRCm39)	V1419A	possibly damaging	Het
Mfsd6l	A	T	11: 68,448,576 (GRCm39)	I476L	probably benign	Het
Mrpl2	T	C	17: 46,959,157 (GRCm39)		probably benign	Het
Mrpl37	A	G	4: 106,917,729 (GRCm39)	L314P	probably damaging	Het
Msto1	C	A	3: 88,819,131 (GRCm39)	R205S	probably benign	Het
Myh9	A	T	15: 77,692,196 (GRCm39)	I121N	probably damaging	Het
Omt2a	G	A	9: 78,220,621 (GRCm39)	R20C	possibly damaging	Het
Or4c11b	G	A	2: 88,625,631 (GRCm39)	V302I	probably benign	Het
Pdpr	G	A	8: 111,852,312 (GRCm39)	V560I	probably damaging	Het
Rimkla	A	T	4: 119,325,549 (GRCm39)	C287S	probably damaging	Het
Shcbp1l	T	A	1: 153,311,891 (GRCm39)		probably benign	Het
Tm7sf2	T	A	19: 6,113,598 (GRCm39)	K111I	probably damaging	Het
Tnfrsf21	A	G	17: 43,350,802 (GRCm39)	E322G	probably benign	Het
Ttn	A	G	2: 76,711,543 (GRCm39)		probably benign	Het
Zbtb20	T	A	16: 43,431,011 (GRCm39)	Y507*	probably null	Het

Other mutations in Itih1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-04-16