Mutagenetix > Incidental Mutation

Incidental Mutation 'R9657:Itih2'

727361

Institutional Source

Beutler Lab

Gene Symbol

Itih2

Ensembl Gene

ENSMUSG00000037254

Gene Name

inter-alpha trypsin inhibitor, heavy chain 2

Synonyms

Itih-2, Intin2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9657 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10094593-10131396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10102875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 627 (T627A)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042290
AA Change: T627A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: T627A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VIT	60	189	4.35e-77	SMART
VWA	312	498	6.6e-32	SMART
Pfam:ITI_HC_C	740	925	1.7e-75	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,293,379	D1747E	probably benign	Het
Acad11	T	A	9: 104,075,836	I88N	possibly damaging	Het
Atp2b4	T	C	1: 133,728,740	E724G	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,546	S63P	probably damaging	Het
Blzf1	T	C	1: 164,306,454	S9G	probably benign	Het
Ccdc121	T	C	1: 181,510,539	T283A	probably benign	Het
Ccdc130	T	C	8: 84,260,455	K138E	possibly damaging	Het
Cdh22	T	C	2: 165,123,795	D488G	probably benign	Het
Cep290	A	G	10: 100,515,141	E688G	possibly damaging	Het
Cldn10	A	C	14: 118,788,369	E71D	probably benign	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Cyp3a16	T	C	5: 145,450,169	D337G	probably null	Het
D430042O09Rik	A	G	7: 125,842,784	S648G	probably benign	Het
Dnah5	A	T	15: 28,409,943	D3654V	probably damaging	Het
Dock1	T	C	7: 134,737,700	S100P	possibly damaging	Het
Gm35339	A	G	15: 76,361,276	Y1271C		Het
Hdgfl2	T	C	17: 56,098,978	V488A	unknown	Het
Klhl33	T	C	14: 50,896,660	D144G	probably benign	Het
Lca5l	G	A	16: 96,173,753	Q324*	probably null	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mical2	A	G	7: 112,322,599	T542A	probably benign	Het
Moxd1	T	A	10: 24,252,587	V179E	probably benign	Het
Myh7b	A	G	2: 155,614,043	Y116C	probably damaging	Het
Myoc	C	T	1: 162,639,660	R133*	probably null	Het
Nol3	A	T	8: 105,279,009	I12F	probably damaging	Het
Nrap	A	G	19: 56,363,945	V605A	probably benign	Het
Olfr1136	T	C	2: 87,693,777	Y35C	probably damaging	Het
Olfr1158	A	C	2: 87,990,966	N285T	probably damaging	Het
Pag1	G	T	3: 9,704,731	S52R	probably damaging	Het
Pbxip1	A	G	3: 89,447,749	D525G	probably benign	Het
Pla2g4f	A	G	2: 120,304,657	F437L	probably benign	Het
Podn	A	C	4: 108,027,034	I86S	probably damaging	Het
Postn	A	G	3: 54,383,399	T676A	probably benign	Het
Ppp1r1c	A	G	2: 79,808,374	E104G	probably benign	Het
Prss53	T	C	7: 127,887,066	T436A	probably damaging	Het
Psme4	A	T	11: 30,838,980	E1127D	probably benign	Het
Ptpn18	C	A	1: 34,473,392	A426E	possibly damaging	Het
Ptprz1	T	G	6: 23,042,378	C2044G	possibly damaging	Het
Rad54l2	C	A	9: 106,704,173	V850L	probably damaging	Het
Ranbp9	A	G	13: 43,403,679	I28T	unknown	Het
Rapgef2	A	T	3: 79,091,884	V527E	probably damaging	Het
Rere	C	A	4: 150,614,933	P825T	unknown	Het
Rundc3a	A	G	11: 102,400,752	T349A	probably benign	Het
Scn2a	T	C	2: 65,735,688	F1352S	probably damaging	Het
Senp7	T	A	16: 56,123,932	C206*	probably null	Het
Serac1	C	T	17: 6,069,383	V91I	probably benign	Het
Serpina1f	G	A	12: 103,689,791	Q393*	probably null	Het
Slc8a1	T	C	17: 81,647,815	E598G	probably damaging	Het
Slmap	A	T	14: 26,429,858	H518Q	probably benign	Het
Spg11	G	A	2: 122,080,300	R1199C	probably damaging	Het
Tada1	T	C	1: 166,386,743	S104P	possibly damaging	Het
Tbck	A	G	3: 132,715,690	D186G	probably damaging	Het
Tdrd9	A	C	12: 112,036,390	R824S	possibly damaging	Het
Tmem161a	T	C	8: 70,177,610		probably null	Het
Trim55	G	A	3: 19,674,507	G494D	possibly damaging	Het
Ttc17	T	A	2: 94,406,665	M1L	probably benign	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ugt3a1	A	C	15: 9,280,047	S32R	probably damaging	Het
Vgll3	T	C	16: 65,839,457	S220P	probably benign	Het
Virma	A	G	4: 11,544,898	E1569G	probably damaging	Het
Vmn1r54	C	G	6: 90,270,002	F299L	probably benign	Het
Vmn2r114	A	G	17: 23,291,716	S597P	probably damaging	Het
Wdr7	A	G	18: 63,924,847	D1249G	probably damaging	Het
Ypel4	A	G	2: 84,737,724	Y108C	probably damaging	Het
Zfp770	A	G	2: 114,197,285	V101A	probably damaging	Het
Zfyve9	A	T	4: 108,718,532	C451S	probably damaging	Het

Other mutations in Itih2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01641:Itih2	APN	2	10110439	missense	probably benign	0.00
IGL01775:Itih2	APN	2	10129286	missense	probably benign	0.19
IGL02516:Itih2	APN	2	10097917	missense	probably benign	0.00
IGL02698:Itih2	APN	2	10130501	missense	probably damaging	1.00
IGL02747:Itih2	APN	2	10097945	missense	probably benign	0.35
IGL03162:Itih2	APN	2	10126244	missense	probably damaging	1.00
IGL03325:Itih2	APN	2	10106735	missense	probably damaging	1.00
R0226:Itih2	UTSW	2	10115299	missense	possibly damaging	0.71
R0316:Itih2	UTSW	2	10105246	missense	possibly damaging	0.67
R0415:Itih2	UTSW	2	10105615	unclassified	probably benign
R0612:Itih2	UTSW	2	10117394	missense	probably benign	0.16
R0625:Itih2	UTSW	2	10123414	missense	possibly damaging	0.49
R0766:Itih2	UTSW	2	10097924	missense	probably benign	0.21
R1312:Itih2	UTSW	2	10097924	missense	probably benign	0.21
R1322:Itih2	UTSW	2	10109522	missense	probably damaging	1.00
R1521:Itih2	UTSW	2	10106747	missense	probably damaging	1.00
R1544:Itih2	UTSW	2	10105214	missense	probably benign	0.27
R1622:Itih2	UTSW	2	10102079	missense	probably benign	0.00
R1649:Itih2	UTSW	2	10105735	missense	probably benign	0.37
R2064:Itih2	UTSW	2	10130574	missense	possibly damaging	0.83
R2378:Itih2	UTSW	2	10094887	missense	probably damaging	1.00
R2893:Itih2	UTSW	2	10102197	missense	possibly damaging	0.79
R3732:Itih2	UTSW	2	10105670	missense	probably benign	0.00
R3732:Itih2	UTSW	2	10105670	missense	probably benign	0.00
R3733:Itih2	UTSW	2	10105670	missense	probably benign	0.00
R4195:Itih2	UTSW	2	10115285	missense	probably damaging	1.00
R4405:Itih2	UTSW	2	10106737	nonsense	probably null
R4585:Itih2	UTSW	2	10110400	missense	probably benign	0.00
R4586:Itih2	UTSW	2	10110400	missense	probably benign	0.00
R4610:Itih2	UTSW	2	10105160	missense	probably damaging	0.96
R5311:Itih2	UTSW	2	10110535	missense	probably benign	0.01
R5361:Itih2	UTSW	2	10096461	missense	probably benign	0.09
R5436:Itih2	UTSW	2	10105196	missense	probably benign	0.00
R5454:Itih2	UTSW	2	10097993	missense	probably null	0.00
R5580:Itih2	UTSW	2	10123476	missense	probably damaging	1.00
R5621:Itih2	UTSW	2	10102805	missense	probably benign	0.00
R5846:Itih2	UTSW	2	10097903	missense	probably benign	0.00
R6083:Itih2	UTSW	2	10108894	intron	probably benign
R6190:Itih2	UTSW	2	10098507	missense	probably benign	0.37
R6198:Itih2	UTSW	2	10098541	missense	probably benign	0.00
R6469:Itih2	UTSW	2	10123413	missense	possibly damaging	0.65
R6816:Itih2	UTSW	2	10105706	missense	probably damaging	1.00
R6820:Itih2	UTSW	2	10098098	missense	probably benign	0.00
R6853:Itih2	UTSW	2	10115266	missense	probably damaging	1.00
R7102:Itih2	UTSW	2	10105763	missense	probably benign	0.27
R7173:Itih2	UTSW	2	10105163	missense	probably damaging	1.00
R7387:Itih2	UTSW	2	10130508	missense	possibly damaging	0.63
R8021:Itih2	UTSW	2	10105652	missense	probably benign
R8065:Itih2	UTSW	2	10123483	missense	probably damaging	0.99
R8067:Itih2	UTSW	2	10123483	missense	probably damaging	0.99
R8110:Itih2	UTSW	2	10097137	missense	probably damaging	0.98
R8721:Itih2	UTSW	2	10106808	missense	probably damaging	1.00
R8755:Itih2	UTSW	2	10098558	missense	probably damaging	1.00
R8785:Itih2	UTSW	2	10097969	missense	probably benign	0.03
R8868:Itih2	UTSW	2	10127789	missense	probably benign	0.10
R8919:Itih2	UTSW	2	10098011	nonsense	probably null
R9287:Itih2	UTSW	2	10123486	missense	possibly damaging	0.88
R9496:Itih2	UTSW	2	10102173	missense	probably benign	0.01
RF012:Itih2	UTSW	2	10117403	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- ACACTTACGGACACAGGTGG -3'
(R):5'- TTAGGCATCCCCACTCTGTG -3'

Sequencing Primer
(F):5'- CACAGGTGGAAGCAAAAAGTGGATG -3'
(R):5'- CCACTCTGTGCTCAGGTG -3'

Posted On

2022-10-06