Mutagenetix > Incidental Mutations

Incidental Mutation 'R2086:Itih1'

230022

Institutional Source

Beutler Lab

Gene Symbol

Itih1

Ensembl Gene

ENSMUSG00000006529

Gene Name

inter-alpha trypsin inhibitor, heavy chain 1

Synonyms

inter-alpha (globulin) inhibitor, H1 polypeptide, Itih-1, Intin1

MMRRC Submission

040091-MU

Accession Numbers

Genbank: NM_008406.3; Ensembl: ENSMUST00000163118

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30929180-30943289 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30937843 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 279 (A279T)

Ref Sequence

ENSEMBL: ENSMUSP00000126449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006704] [ENSMUST00000163118]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006704
AA Change: A283T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: A283T

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 damaging
Transcript: ENSMUST00000163118
AA Change: A279T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: A279T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227938

Meta Mutation Damage Score

0.5739

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476		probably benign	Het
Acap2	C	G	16: 31,110,945	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012	R302G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256	S295P	probably benign	Het
Cenpb	T	C	2: 131,178,597		probably benign	Het
Cntnap3	A	G	13: 64,794,262	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098		probably benign	Het
Csnk2a1	A	G	2: 152,254,281	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871	Q1296K	possibly damaging	Het
Doxl2	A	G	6: 48,977,602	E558G	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773		probably benign	Het
Exoc1	A	T	5: 76,532,846	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563		probably null	Het
Gc	T	C	5: 89,438,342	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706		noncoding transcript	Het
Golm1	G	A	13: 59,645,185	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281	V813A	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lama1	T	C	17: 67,817,623	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202		probably null	Het
Mfsd7a	C	T	5: 108,445,621	R117H	probably damaging	Het
Mgam	T	A	6: 40,761,028		probably null	Het
Mical2	A	C	7: 112,318,603	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256	D2715G	probably damaging	Het
Olfr154	A	C	2: 85,663,746	S229R	probably benign	Het
Olfr728	T	A	14: 50,140,123	N172I	probably damaging	Het
Pcca	T	C	14: 122,686,115	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,380,471	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318		probably null	Het
Ptdss1	A	G	13: 66,953,555	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984	I43V	probably null	Het
Pygm	G	A	19: 6,391,481		probably null	Het
Rab7	C	T	6: 88,012,318	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431		probably null	Het
Rergl	T	C	6: 139,494,834	T106A	probably benign	Het
Rnf17	T	G	14: 56,483,380	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969	M1V	probably null	Het
Rps6ka5	T	C	12: 100,619,615	T140A	possibly damaging	Het
Sbno2	T	A	10: 80,057,856	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946	S93W	probably damaging	Het
Smc1b	A	G	15: 85,121,851		probably benign	Het
Spag1	T	C	15: 36,227,141	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ttc38	T	A	15: 85,838,727	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830	L932P	probably damaging	Het

Other mutations in Itih1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Itih1	APN	14	30929821	missense	probably benign	0.26
IGL00227:Itih1	APN	14	30942889	splice site	probably null
IGL00902:Itih1	APN	14	30932482	splice site	probably benign
IGL02194:Itih1	APN	14	30930365	missense	probably benign	0.01
IGL02221:Itih1	APN	14	30929587	missense	probably damaging	1.00
IGL02292:Itih1	APN	14	30933355	splice site	probably null
IGL02733:Itih1	APN	14	30936720	missense	probably damaging	1.00
IGL02928:Itih1	APN	14	30937758	missense	probably damaging	1.00
IGL03064:Itih1	APN	14	30941557	missense	probably benign	0.09
1mM(1):Itih1	UTSW	14	30929850	missense	probably damaging	1.00
R0092:Itih1	UTSW	14	30940863	splice site	probably benign
R0647:Itih1	UTSW	14	30935863	missense	probably damaging	1.00
R0662:Itih1	UTSW	14	30933360	missense	possibly damaging	0.63
R0744:Itih1	UTSW	14	30941555	missense	probably damaging	1.00
R0833:Itih1	UTSW	14	30941555	missense	probably damaging	1.00
R1070:Itih1	UTSW	14	30942456	splice site	probably benign
R1397:Itih1	UTSW	14	30929905	splice site	probably benign
R1797:Itih1	UTSW	14	30929899	missense	probably damaging	1.00
R1898:Itih1	UTSW	14	30932287	missense	probably benign
R1964:Itih1	UTSW	14	30929623	missense	probably damaging	1.00
R1967:Itih1	UTSW	14	30941984	missense	possibly damaging	0.67
R2155:Itih1	UTSW	14	30938071	missense	probably damaging	1.00
R2156:Itih1	UTSW	14	30933475	missense	possibly damaging	0.88
R2225:Itih1	UTSW	14	30929577	missense	possibly damaging	0.88
R3836:Itih1	UTSW	14	30935828	missense	probably damaging	1.00
R3837:Itih1	UTSW	14	30935828	missense	probably damaging	1.00
R3839:Itih1	UTSW	14	30935828	missense	probably damaging	1.00
R4388:Itih1	UTSW	14	30941555	missense	possibly damaging	0.93
R4504:Itih1	UTSW	14	30935885	missense	probably damaging	1.00
R4618:Itih1	UTSW	14	30929831	missense	probably benign	0.33
R4682:Itih1	UTSW	14	30937843	missense	probably damaging	1.00
R4856:Itih1	UTSW	14	30936701	critical splice donor site	probably null
R4886:Itih1	UTSW	14	30936701	critical splice donor site	probably null
R5169:Itih1	UTSW	14	30933446	nonsense	probably null
R5773:Itih1	UTSW	14	30935399	missense	possibly damaging	0.89
R5875:Itih1	UTSW	14	30929530	missense	probably benign
R6048:Itih1	UTSW	14	30929823	missense	possibly damaging	0.89
R6077:Itih1	UTSW	14	30929876	missense	possibly damaging	0.75
R6175:Itih1	UTSW	14	30931195	missense	probably damaging	1.00
R6228:Itih1	UTSW	14	30931260	missense	probably benign	0.00
R6664:Itih1	UTSW	14	30933436	missense	probably damaging	1.00
R6675:Itih1	UTSW	14	30929841	missense	possibly damaging	0.50
R7059:Itih1	UTSW	14	30931309	missense	possibly damaging	0.93
R7168:Itih1	UTSW	14	30934107	missense	probably null	0.98
R7408:Itih1	UTSW	14	30943160	missense	probably benign	0.00
R7458:Itih1	UTSW	14	30943266	start codon destroyed	probably null
R7717:Itih1	UTSW	14	30931185	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCGTTGATTCCCCAGCAG -3'
(R):5'- GGAGAATTCAAGGTGACCTACG -3'

Sequencing Primer
(F):5'- AGCAGGGATTTCCAGTTACATCC -3'
(R):5'- TCAAGGTGACCTACGATGTCAATCG -3'

Posted On

2014-09-18