Mutagenetix > Incidental Mutation

Incidental Mutation 'R1322:Itih2'

157702

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

039388-MU

Accession Numbers

Essential gene?

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

Stock #

R1322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10099408-10135492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10114333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 417 (V417A)

Ref Sequence

ENSEMBL: ENSMUSP00000124636 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042290
AA Change: V417A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046530
Gene: ENSMUSG00000037254
AA Change: V417A

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 damaging
Transcript: ENSMUST00000155809
AA Change: V417A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124636
Gene: ENSMUSG00000037254
AA Change: V417A

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.5%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Col27a1	A	C	4: 63,246,803 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,528,415 (GRCm39)	D815E	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gpr162	G	T	6: 124,835,864 (GRCm39)	T512K	probably damaging	Het
Hipk1	A	T	3: 103,651,297 (GRCm39)	S1155R	probably damaging	Het
Kmt2a	A	G	9: 44,732,418 (GRCm39)		probably benign	Het
Mecom	G	T	3: 30,011,522 (GRCm39)	P670Q	probably damaging	Het
Mgat4d	A	G	8: 84,092,354 (GRCm39)	T247A	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or7g18	T	C	9: 18,786,817 (GRCm39)	F65L	possibly damaging	Het
Polr1c	T	C	17: 46,555,089 (GRCm39)	K327R	possibly damaging	Het
Prpf39	A	T	12: 65,089,436 (GRCm39)	N58I	possibly damaging	Het
Sh3bp2	T	A	5: 34,712,837 (GRCm39)	N92K	probably damaging	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trgc3	T	C	13: 19,445,364 (GRCm39)	F104S	probably benign	Het
Vmn2r88	T	G	14: 51,651,565 (GRCm39)	I293S	probably damaging	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het
Zfp930	A	G	8: 69,680,820 (GRCm39)	T171A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTGCAGAAGCCAGGGTTTAAAATG -3'
(R):5'- TGCCTTACAAGATGACAGACCAATGC -3'

Sequencing Primer
(F):5'- CTCTTCCAAGCAACAGTGAAGA -3'
(R):5'- CTAAAGGGTTTATTTACCTCAAAGGG -3'

Posted On

2014-02-18