Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Itih2'

306070

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itih2

Ensembl Gene

ENSMUSG00000037254

Gene Name

inter-alpha trypsin inhibitor, heavy chain 2

Synonyms

Itih-2, Intin2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

10099408-10135492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10102756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 793 (S793P)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042290
AA Change: S793P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: S793P

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,323,282 (GRCm39)	L3373*	probably null	Het
Ap1s3	T	C	1: 79,601,409 (GRCm39)	Y94C	probably damaging	Het
Dbx2	T	C	15: 95,530,320 (GRCm39)	T216A	probably benign	Het
Dsg4	A	G	18: 20,579,995 (GRCm39)	R67G	probably damaging	Het
Eng	G	A	2: 32,562,970 (GRCm39)		probably null	Het
Gm28042	T	A	2: 119,861,875 (GRCm39)	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,765,720 (GRCm39)	M276I	probably benign	Het
Kcnj13	T	C	1: 87,317,087 (GRCm39)	N9D	probably benign	Het
Kics2	A	C	10: 121,581,455 (GRCm39)	Q152P	possibly damaging	Het
Krt78	T	A	15: 101,858,819 (GRCm39)		probably benign	Het
Megf10	A	G	18: 57,423,565 (GRCm39)	K985E	probably benign	Het
Naa25	A	G	5: 121,552,668 (GRCm39)		probably benign	Het
Or8b3b	T	C	9: 38,584,380 (GRCm39)	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,361,583 (GRCm39)	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,312,136 (GRCm39)	K301E	probably benign	Het
Ralgds	T	C	2: 28,438,122 (GRCm39)		probably benign	Het
Rccd1	A	T	7: 79,970,238 (GRCm39)	D126E	probably benign	Het
Reps1	T	C	10: 17,999,348 (GRCm39)	S712P	probably damaging	Het
Rnf103	T	A	6: 71,486,161 (GRCm39)	I264N	probably damaging	Het
Rpap1	A	G	2: 119,604,609 (GRCm39)	I433T	probably damaging	Het
Ryr2	T	G	13: 11,670,563 (GRCm39)	N3478H	probably damaging	Het
Sox30	A	G	11: 45,871,772 (GRCm39)	D209G	probably benign	Het
Sox6	A	G	7: 115,088,981 (GRCm39)	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,944,917 (GRCm39)	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,660,076 (GRCm39)	V398A	probably benign	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,272,202 (GRCm39)		probably benign	Het
Vmn2r120	G	A	17: 57,831,719 (GRCm39)	H357Y	probably benign	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
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
R6083:Itih2	UTSW	2	10,113,705 (GRCm39)	intron	probably benign
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

Posted On

2015-04-16