Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Itih2'

482274

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

044242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10099408-10135492 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 10113705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042290] [ENSMUST00000155809]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042290

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254

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

Predicted Effect

unknown
Transcript: ENSMUST00000155809
AA Change: N446S

SMART Domains

Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254
AA Change: N446S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
VIT	60	189	4.35e-77	SMART
VWA	312	452	4.51e-7	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,769,677 (GRCm39)	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ace	C	A	11: 105,876,093 (GRCm39)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Nktr	T	C	9: 121,579,202 (GRCm39)		probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4a72	T	C	2: 89,406,016 (GRCm39)	D18G	probably benign	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,160,066 (GRCm39)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Slitrk5	A	G	14: 111,919,157 (GRCm39)	N927S	probably benign	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	probably damaging	Het

Other mutations in Itih2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01641:Itih2	APN	2	10,115,250 (GRCm39)	missense	probably benign	0.00
IGL01775:Itih2	APN	2	10,134,097 (GRCm39)	missense	probably benign	0.19
IGL02516:Itih2	APN	2	10,102,728 (GRCm39)	missense	probably benign	0.00
IGL02698:Itih2	APN	2	10,135,312 (GRCm39)	missense	probably damaging	1.00
IGL02747:Itih2	APN	2	10,102,756 (GRCm39)	missense	probably benign	0.35
IGL03162:Itih2	APN	2	10,131,055 (GRCm39)	missense	probably damaging	1.00
IGL03325:Itih2	APN	2	10,111,546 (GRCm39)	missense	probably damaging	1.00
R0226:Itih2	UTSW	2	10,120,110 (GRCm39)	missense	possibly damaging	0.71
R0316:Itih2	UTSW	2	10,110,057 (GRCm39)	missense	possibly damaging	0.67
R0415:Itih2	UTSW	2	10,110,426 (GRCm39)	unclassified	probably benign
R0612:Itih2	UTSW	2	10,122,205 (GRCm39)	missense	probably benign	0.16
R0625:Itih2	UTSW	2	10,128,225 (GRCm39)	missense	possibly damaging	0.49
R0766:Itih2	UTSW	2	10,102,735 (GRCm39)	missense	probably benign	0.21
R1312:Itih2	UTSW	2	10,102,735 (GRCm39)	missense	probably benign	0.21
R1322:Itih2	UTSW	2	10,114,333 (GRCm39)	missense	probably damaging	1.00
R1521:Itih2	UTSW	2	10,111,558 (GRCm39)	missense	probably damaging	1.00
R1544:Itih2	UTSW	2	10,110,025 (GRCm39)	missense	probably benign	0.27
R1622:Itih2	UTSW	2	10,106,890 (GRCm39)	missense	probably benign	0.00
R1649:Itih2	UTSW	2	10,110,546 (GRCm39)	missense	probably benign	0.37
R2064:Itih2	UTSW	2	10,135,385 (GRCm39)	missense	possibly damaging	0.83
R2378:Itih2	UTSW	2	10,099,698 (GRCm39)	missense	probably damaging	1.00
R2893:Itih2	UTSW	2	10,107,008 (GRCm39)	missense	possibly damaging	0.79
R3732:Itih2	UTSW	2	10,110,481 (GRCm39)	missense	probably benign	0.00
R3732:Itih2	UTSW	2	10,110,481 (GRCm39)	missense	probably benign	0.00
R3733:Itih2	UTSW	2	10,110,481 (GRCm39)	missense	probably benign	0.00
R4195:Itih2	UTSW	2	10,120,096 (GRCm39)	missense	probably damaging	1.00
R4405:Itih2	UTSW	2	10,111,548 (GRCm39)	nonsense	probably null
R4585:Itih2	UTSW	2	10,115,211 (GRCm39)	missense	probably benign	0.00
R4586:Itih2	UTSW	2	10,115,211 (GRCm39)	missense	probably benign	0.00
R4610:Itih2	UTSW	2	10,109,971 (GRCm39)	missense	probably damaging	0.96
R5311:Itih2	UTSW	2	10,115,346 (GRCm39)	missense	probably benign	0.01
R5361:Itih2	UTSW	2	10,101,272 (GRCm39)	missense	probably benign	0.09
R5436:Itih2	UTSW	2	10,110,007 (GRCm39)	missense	probably benign	0.00
R5454:Itih2	UTSW	2	10,102,804 (GRCm39)	missense	probably null	0.00
R5580:Itih2	UTSW	2	10,128,287 (GRCm39)	missense	probably damaging	1.00
R5621:Itih2	UTSW	2	10,107,616 (GRCm39)	missense	probably benign	0.00
R5846:Itih2	UTSW	2	10,102,714 (GRCm39)	missense	probably benign	0.00
R6190:Itih2	UTSW	2	10,103,318 (GRCm39)	missense	probably benign	0.37
R6198:Itih2	UTSW	2	10,103,352 (GRCm39)	missense	probably benign	0.00
R6469:Itih2	UTSW	2	10,128,224 (GRCm39)	missense	possibly damaging	0.65
R6816:Itih2	UTSW	2	10,110,517 (GRCm39)	missense	probably damaging	1.00
R6820:Itih2	UTSW	2	10,102,909 (GRCm39)	missense	probably benign	0.00
R6853:Itih2	UTSW	2	10,120,077 (GRCm39)	missense	probably damaging	1.00
R7102:Itih2	UTSW	2	10,110,574 (GRCm39)	missense	probably benign	0.27
R7173:Itih2	UTSW	2	10,109,974 (GRCm39)	missense	probably damaging	1.00
R7387:Itih2	UTSW	2	10,135,319 (GRCm39)	missense	possibly damaging	0.63
R8021:Itih2	UTSW	2	10,110,463 (GRCm39)	missense	probably benign
R8065:Itih2	UTSW	2	10,128,294 (GRCm39)	missense	probably damaging	0.99
R8067:Itih2	UTSW	2	10,128,294 (GRCm39)	missense	probably damaging	0.99
R8110:Itih2	UTSW	2	10,101,948 (GRCm39)	missense	probably damaging	0.98
R8721:Itih2	UTSW	2	10,111,619 (GRCm39)	missense	probably damaging	1.00
R8755:Itih2	UTSW	2	10,103,369 (GRCm39)	missense	probably damaging	1.00
R8785:Itih2	UTSW	2	10,102,780 (GRCm39)	missense	probably benign	0.03
R8868:Itih2	UTSW	2	10,132,600 (GRCm39)	missense	probably benign	0.10
R8919:Itih2	UTSW	2	10,102,822 (GRCm39)	nonsense	probably null
R9287:Itih2	UTSW	2	10,128,297 (GRCm39)	missense	possibly damaging	0.88
R9496:Itih2	UTSW	2	10,106,984 (GRCm39)	missense	probably benign	0.01
R9657:Itih2	UTSW	2	10,107,686 (GRCm39)	missense	probably damaging	0.99
RF012:Itih2	UTSW	2	10,122,214 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CTGTACAGCATGGGTTACACACC -3'
(R):5'- GCTCAGAAAAGTAGGGCTGC -3'

Posted On

2017-07-14