Mutagenetix > Incidental Mutation

Incidental Mutation 'R2378:Itih2'

248341

Institutional Source

Beutler Lab

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 #

R2378 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10099408-10135492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10099698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 907 (D907V)

Ref Sequence

ENSEMBL: ENSMUSP00000046530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042290] [ENSMUST00000042512]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042290
AA Change: D907V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: D907V

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

probably benign
Transcript: ENSMUST00000042512

SMART Domains

Protein: ENSMUSP00000043614
Gene: ENSMUSG00000037262

Domain	Start	End	E-Value	Type
ZnF_C2H2	26	50	2.35e1	SMART
Kin17_mid	52	178	5.41e-89	SMART
low complexity region	209	224	N/A	INTRINSIC
low complexity region	242	258	N/A	INTRINSIC
low complexity region	290	300	N/A	INTRINSIC
KOW	334	361	1.97e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142773

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.1%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AK157302	T	C	13: 21,679,732 (GRCm39)	I86T	possibly damaging	Het
Akr1cl	A	T	1: 65,061,147 (GRCm39)	M124K	probably benign	Het
Asap2	T	C	12: 21,304,319 (GRCm39)	L745P	possibly damaging	Het
B3gnt9	G	A	8: 105,981,116 (GRCm39)	R91C	probably damaging	Het
Capg	C	T	6: 72,532,474 (GRCm39)	P13L	probably benign	Het
Eif3c	C	T	7: 126,151,497 (GRCm39)	R609H	probably damaging	Het
Ephb3	A	G	16: 21,036,993 (GRCm39)	H152R	probably benign	Het
Gbp9	T	C	5: 105,228,042 (GRCm39)	D580G	probably benign	Het
Iars2	A	G	1: 185,059,918 (GRCm39)	Y97H	probably damaging	Het
Ip6k2	A	G	9: 108,673,500 (GRCm39)		probably null	Het
Lrrc37	A	G	11: 103,510,537 (GRCm39)		probably benign	Het
Msh4	A	G	3: 153,569,114 (GRCm39)	C732R	probably damaging	Het
Mtss2	T	C	8: 111,464,981 (GRCm39)	F474L	probably damaging	Het
Nbeal2	T	C	9: 110,459,876 (GRCm39)	E1175G	probably damaging	Het
Pgm3	A	T	9: 86,444,720 (GRCm39)	C272S	probably damaging	Het
R3hcc1l	T	A	19: 42,551,912 (GRCm39)	I303N	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Spsb3	A	G	17: 25,105,924 (GRCm39)		probably benign	Het
Tgfbr2	G	A	9: 115,959,018 (GRCm39)	T132I	probably benign	Het
Tpp2	A	T	1: 44,038,925 (GRCm39)	E223V	probably damaging	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Vmn2r102	T	G	17: 19,914,930 (GRCm39)	L832V	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
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

Predicted Primers

PCR Primer
(F):5'- TTTGAGTTGCTGAAACGGGG -3'
(R):5'- TAGGACCAACCCTAGACACTGA -3'

Sequencing Primer
(F):5'- TTGCTGAAACGGGGGAGTAACTG -3'
(R):5'- ACTGACATTTCTTTTAACTTGGCGG -3'

Posted On

2014-11-11