Mutagenetix > Incidental Mutations

Incidental Mutation 'R6820:Itih2'

537549

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

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10094593-10131396 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10098098 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 742 (I742V)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000042290
AA Change: I742V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: I742V

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

Meta Mutation Damage Score

0.1255

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,842,921	N141Y	probably null	Het
Chkb	A	G	15: 89,428,176	L46P	probably damaging	Het
Col9a3	G	A	2: 180,607,134	V260M	probably damaging	Het
Dna2	T	C	10: 62,964,904	I739T	possibly damaging	Het
Dnah17	T	C	11: 118,069,000	H2620R	probably damaging	Het
Dsel	A	G	1: 111,859,817	V996A	probably damaging	Het
Dst	T	C	1: 34,211,256	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,048,930		probably null	Het
Fam120a	A	T	13: 48,880,992	V1048E	possibly damaging	Het
Fam213b	A	T	4: 154,898,166	D50E	probably damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,482,011	T377S	probably benign	Het
Fbxw28	A	T	9: 109,338,425	F88Y	probably damaging	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Gtsf1	T	C	15: 103,420,527	T92A	probably benign	Het
Hoxc13	A	G	15: 102,921,822	Y212C	probably damaging	Het
Kat7	T	C	11: 95,284,139	T351A	probably damaging	Het
Mlh3	T	C	12: 85,247,723	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,953,274	D1525G	probably damaging	Het
Nme5	T	C	18: 34,571,573	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,242,457	V957A	probably damaging	Het
Nup153	A	G	13: 46,709,983	S301P	probably benign	Het
Obscn	T	C	11: 59,051,193	D5013G	probably damaging	Het
Olfr1278	C	T	2: 111,293,110	P281S	probably damaging	Het
Olfr470	A	G	7: 107,845,091	V214A	probably benign	Het
Olfr919	A	G	9: 38,697,475	V297A	possibly damaging	Het
Pak1	A	G	7: 97,886,379	N226D	probably benign	Het
Pak4	A	G	7: 28,563,036	Y384H	probably benign	Het
Pkp3	T	C	7: 141,079,844		probably null	Het
Psd	G	T	19: 46,320,844	A558E	probably damaging	Het
Psmd14	C	A	2: 61,776,724	H172N	probably benign	Het
Pygb	G	T	2: 150,816,754	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,179,226	M1K	probably null	Het
Rnf213	T	C	11: 119,448,838	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Smg6	T	C	11: 75,041,964	V88A	probably damaging	Het
Tha1	T	C	11: 117,871,678	E80G	probably benign	Het
Tie1	A	G	4: 118,484,386	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926	M1T	probably null	Het
Tpm2	A	G	4: 43,518,443	Y221H	probably damaging	Het
Ubap1	C	T	4: 41,379,854	P356L	probably benign	Het
Wbp2nl	G	T	15: 82,313,795	A178S	possibly damaging	Het
Wdr54	A	T	6: 83,154,619	S139T	probably benign	Het
Wipi2	G	C	5: 142,629,800	Q14H	probably benign	Het
Zan	T	C	5: 137,407,844		probably benign	Het
Zfp735	A	G	11: 73,688,957	M1V	probably null	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
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
RF012:Itih2	UTSW	2	10117403	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AAGATGAGCTGTGTCGGACC -3'
(R):5'- GACGGCTAGACTTCCTTGTG -3'

Sequencing Primer
(F):5'- TGTGTCGGACCAGGACAGTC -3'
(R):5'- TCTCACCCCATTAGATAGACTATAGC -3'

Posted On

2018-10-18