Mutagenetix > Incidental Mutation

Incidental Mutation 'R3685:Itih5'

269493

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha-trypsin inhibitor, heavy chain 5

Synonyms

4631408O11Rik, 5430408M01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10158382-10261340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10243435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 391 (N391Y)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026886]

AlphaFold

Q8BJD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026886
AA Change: N391Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: N391Y

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	30	45	N/A	INTRINSIC
Pfam:VIT	51	159	5.5e-27	PFAM
VWA	293	476	5.84e-24	SMART
Pfam:ITI_HC_C	716	909	1.7e-60	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	T	C	4: 132,793,013 (GRCm39)	L1418P	possibly damaging	Het
Atp13a5	G	C	16: 29,135,573 (GRCm39)	L340V	probably damaging	Het
Cdon	A	G	9: 35,400,328 (GRCm39)	E1014G	possibly damaging	Het
Cyp2c40	A	G	19: 39,775,223 (GRCm39)	M343T	possibly damaging	Het
Dmrtc2	T	C	7: 24,573,687 (GRCm39)	V174A	probably benign	Het
Ggta1	T	A	2: 35,298,000 (GRCm39)	T162S	probably benign	Het
Gm9637	A	G	14: 19,401,950 (GRCm38)		noncoding transcript	Het
Gpbp1	T	C	13: 111,603,405 (GRCm39)	T15A	probably benign	Het
Klhl40	A	G	9: 121,611,724 (GRCm39)	E579G	probably damaging	Het
Or4a73	C	A	2: 89,421,099 (GRCm39)	R120L	probably damaging	Het
Or4c118	A	T	2: 88,975,364 (GRCm39)	M1K	probably null	Het
Or5d37	T	A	2: 87,923,603 (GRCm39)	I226F	probably damaging	Het
Prr16	C	A	18: 51,435,892 (GRCm39)	P124T	probably damaging	Het
Ribc2	A	G	15: 85,019,535 (GRCm39)	T106A	possibly damaging	Het
Slc37a1	C	A	17: 31,544,667 (GRCm39)	T253N	probably benign	Het
Smpd1	T	A	7: 105,204,609 (GRCm39)	C163S	probably damaging	Het
Tacc2	A	G	7: 130,226,800 (GRCm39)	S1162G	probably benign	Het
Tenm2	C	A	11: 35,942,644 (GRCm39)	V1342L	probably benign	Het
Trim34a	T	C	7: 103,909,333 (GRCm39)		probably null	Het
Zfand6	G	A	7: 84,283,570 (GRCm39)	P11S	probably damaging	Het

Other mutations in Itih5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Itih5	APN	2	10,195,100 (GRCm39)	missense	probably damaging	1.00
IGL02125:Itih5	APN	2	10,245,798 (GRCm39)	missense	probably benign
IGL02370:Itih5	APN	2	10,191,786 (GRCm39)	missense	probably benign	0.05
IGL03376:Itih5	APN	2	10,211,584 (GRCm39)	missense	probably benign	0.12
IGL02991:Itih5	UTSW	2	10,256,162 (GRCm39)	missense	probably benign	0.01
R0090:Itih5	UTSW	2	10,169,495 (GRCm39)	missense	probably benign	0.03
R0096:Itih5	UTSW	2	10,256,189 (GRCm39)	missense	probably benign	0.02
R0096:Itih5	UTSW	2	10,256,189 (GRCm39)	missense	probably benign	0.02
R0158:Itih5	UTSW	2	10,239,803 (GRCm39)	splice site	probably benign
R0270:Itih5	UTSW	2	10,256,075 (GRCm39)	missense	probably benign	0.38
R0276:Itih5	UTSW	2	10,190,375 (GRCm39)	missense	possibly damaging	0.80
R0807:Itih5	UTSW	2	10,253,999 (GRCm39)	missense	probably benign	0.00
R0810:Itih5	UTSW	2	10,253,999 (GRCm39)	missense	probably benign	0.00
R0903:Itih5	UTSW	2	10,253,999 (GRCm39)	missense	probably benign	0.00
R0905:Itih5	UTSW	2	10,253,999 (GRCm39)	missense	probably benign	0.00
R0906:Itih5	UTSW	2	10,253,999 (GRCm39)	missense	probably benign	0.00
R1104:Itih5	UTSW	2	10,256,323 (GRCm39)	missense	probably benign	0.03
R1397:Itih5	UTSW	2	10,245,618 (GRCm39)	missense	probably benign	0.14
R1671:Itih5	UTSW	2	10,191,782 (GRCm39)	missense	probably benign	0.03
R1971:Itih5	UTSW	2	10,243,379 (GRCm39)	missense	probably damaging	1.00
R3684:Itih5	UTSW	2	10,243,435 (GRCm39)	missense	possibly damaging	0.93
R3831:Itih5	UTSW	2	10,256,081 (GRCm39)	missense	possibly damaging	0.95
R3934:Itih5	UTSW	2	10,250,355 (GRCm39)	missense	probably damaging	0.98
R4670:Itih5	UTSW	2	10,195,180 (GRCm39)	missense	probably benign	0.01
R4803:Itih5	UTSW	2	10,245,392 (GRCm39)	missense	probably benign
R4950:Itih5	UTSW	2	10,239,892 (GRCm39)	missense	probably damaging	0.98
R5020:Itih5	UTSW	2	10,245,315 (GRCm39)	splice site	probably null
R5735:Itih5	UTSW	2	10,245,572 (GRCm39)	missense	probably benign	0.00
R6454:Itih5	UTSW	2	10,245,479 (GRCm39)	missense	probably benign
R6662:Itih5	UTSW	2	10,253,992 (GRCm39)	missense	probably benign	0.13
R7019:Itih5	UTSW	2	10,195,138 (GRCm39)	missense	probably damaging	1.00
R7068:Itih5	UTSW	2	10,254,115 (GRCm39)	missense	probably damaging	0.99
R7246:Itih5	UTSW	2	10,191,873 (GRCm39)	splice site	probably null
R7424:Itih5	UTSW	2	10,250,448 (GRCm39)	missense	probably damaging	1.00
R7452:Itih5	UTSW	2	10,243,607 (GRCm39)	missense	probably damaging	1.00
R7597:Itih5	UTSW	2	10,254,187 (GRCm39)	missense	probably damaging	1.00
R8025:Itih5	UTSW	2	10,245,833 (GRCm39)	missense	probably benign	0.13
R8253:Itih5	UTSW	2	10,243,406 (GRCm39)	missense	probably benign	0.06
R8349:Itih5	UTSW	2	10,191,800 (GRCm39)	missense	probably benign	0.01
R8439:Itih5	UTSW	2	10,239,869 (GRCm39)	missense	probably benign	0.19
R8449:Itih5	UTSW	2	10,191,800 (GRCm39)	missense	probably benign	0.01
R8825:Itih5	UTSW	2	10,195,231 (GRCm39)	missense	probably benign	0.00
R9110:Itih5	UTSW	2	10,191,831 (GRCm39)	missense	probably benign
R9582:Itih5	UTSW	2	10,195,013 (GRCm39)	missense	probably benign	0.07
R9744:Itih5	UTSW	2	10,256,221 (GRCm39)	missense	probably damaging	1.00
X0026:Itih5	UTSW	2	10,243,370 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAAACGCTTGTCAGATTCTC -3'
(R):5'- GCAGTTCTCCAGCGAGAGTTTC -3'

Sequencing Primer
(F):5'- GCTTGTCAGATTCTCAAAAAGTCACC -3'
(R):5'- TCCAGCGAGAGTTTCTCTAACAG -3'

Posted On

2015-02-19