Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Itih1'

686309

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

068852-MU

Accession Numbers

Essential gene?

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

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30651137-30665246 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30652327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 789 (V789L)

Ref Sequence

ENSEMBL: ENSMUSP00000006704 (fasta)

Gene Model

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

AlphaFold

Q61702

Predicted Effect

probably benign
Transcript: ENSMUST00000006704
AA Change: V789L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000006704
Gene: ENSMUSG00000006529
AA Change: V789L

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 benign
Transcript: ENSMUST00000163118
AA Change: V785L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126449
Gene: ENSMUSG00000006529
AA Change: V785L

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Arhgef7	A	G	8: 11,850,469 (GRCm39)	N257D	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Atxn1	T	C	13: 45,720,891 (GRCm39)	R335G	probably damaging	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,656,575 (GRCm39)	L986S	probably benign	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Entpd8	A	C	2: 24,975,144 (GRCm39)	I492L	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Herpud1	T	A	8: 95,116,197 (GRCm39)	S92T	possibly damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Use1	G	A	8: 71,819,942 (GRCm39)	V36I	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	probably benign	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
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
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'- ACTGAGGACTCGTGAACACAC -3'
(R):5'- GGCCTGGGACATTTTAAGGC -3'

Sequencing Primer
(F):5'- TGAACACACACTGGCTTTGG -3'
(R):5'- CCTGGGACATTTTAAGGCATACAG -3'

Posted On

2021-10-11