Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Itih5'

20108

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha-trypsin inhibitor, heavy chain 5

Synonyms

4631408O11Rik, 5430408M01Rik

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

10158382-10261340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10169495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 31 (V31I)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

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

AlphaFold

Q8BJD1

Predicted Effect

probably benign
Transcript: ENSMUST00000026886
AA Change: V31I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: V31I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4b1	A	G	3: 103,727,745 (GRCm39)	D325G	possibly damaging	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Chaf1b	G	T	16: 93,684,012 (GRCm39)	A88S	possibly damaging	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Ern1	A	G	11: 106,296,649 (GRCm39)	V767A	probably damaging	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itgb8	A	G	12: 119,166,298 (GRCm39)	S78P	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,288,664 (GRCm39)	E616G	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Whrn	C	A	4: 63,350,969 (GRCm39)	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		probably benign	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
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
R3685: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'- CCAGCTCAGCAAAACAGACTGATGG -3'
(R):5'- GCTTCAATCTGCAAACGCTCTTCAC -3'

Sequencing Primer
(F):5'- GAAAAAAAAAAGTCACGGCTTTGC -3'
(R):5'- tcctcagaaccccaccc -3'

Posted On

2013-04-11