Mutagenetix > Incidental Mutation

Incidental Mutation 'R1104:Itih5'

98325

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha-trypsin inhibitor, heavy chain 5

Synonyms

4631408O11Rik, 5430408M01Rik

MMRRC Submission

039177-MU

Accession Numbers

Essential gene?

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

Stock #

R1104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10158382-10261340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10256323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 930 (T930A)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

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

AlphaFold

Q8BJD1

Predicted Effect

probably benign
Transcript: ENSMUST00000026886
AA Change: T930A

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

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: T930A

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

0.0832

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (70/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,702 (GRCm39)	S119N	probably benign	Het
4930550C14Rik	A	G	9: 53,332,917 (GRCm39)	I93V	probably benign	Het
Abcg5	A	C	17: 84,989,477 (GRCm39)	I77S	possibly damaging	Het
Adam3	T	C	8: 25,171,545 (GRCm39)	Y762C	probably benign	Het
Agap1	T	C	1: 89,716,962 (GRCm39)	S26P	probably damaging	Het
Ago1	T	C	4: 126,347,426 (GRCm39)	Y441C	probably damaging	Het
B3gnt3	A	G	8: 72,146,481 (GRCm39)	L16S	possibly damaging	Het
Btaf1	T	A	19: 36,982,002 (GRCm39)	D1677E	probably damaging	Het
Cd5l	T	A	3: 87,268,206 (GRCm39)	S18T	probably benign	Het
Cdca2	T	A	14: 67,931,131 (GRCm39)	R521W	probably damaging	Het
Cfap61	C	A	2: 145,792,981 (GRCm39)	S64*	probably null	Het
Cryzl2	T	A	1: 157,298,174 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dhrs1	T	C	14: 55,981,162 (GRCm39)	K83E	probably benign	Het
Dmrt2	T	A	19: 25,655,980 (GRCm39)	F526L	probably benign	Het
Dnajb14	T	A	3: 137,614,115 (GRCm39)	M342K	possibly damaging	Het
Dpf3	A	G	12: 83,378,761 (GRCm39)	V101A	probably benign	Het
Dthd1	A	C	5: 62,979,302 (GRCm39)	T321P	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fras1	G	A	5: 96,856,530 (GRCm39)	R1971Q	probably benign	Het
Fry	A	G	5: 150,419,754 (GRCm39)	N608S	probably damaging	Het
Gabrr3	T	A	16: 59,281,998 (GRCm39)	V451D	probably damaging	Het
Glg1	A	G	8: 111,924,235 (GRCm39)	L251P	probably benign	Het
Gli2	T	A	1: 118,781,080 (GRCm39)	S222C	probably damaging	Het
Gsr	A	G	8: 34,159,949 (GRCm39)	E99G	probably damaging	Het
H1f5	T	C	13: 21,964,451 (GRCm39)	T92A	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Hus1b	T	C	13: 31,131,679 (GRCm39)		probably benign	Het
Igf1r	T	A	7: 67,844,774 (GRCm39)	I849N	possibly damaging	Het
Ivns1abp	T	A	1: 151,235,860 (GRCm39)	M309K	probably benign	Het
Kdm3b	T	A	18: 34,952,864 (GRCm39)	F1078Y	probably damaging	Het
Krt12	C	A	11: 99,312,792 (GRCm39)	G84V	unknown	Het
Krt40	T	G	11: 99,431,059 (GRCm39)	E150A	probably damaging	Het
Lcn11	G	T	2: 25,669,115 (GRCm39)		probably benign	Het
Lcor	G	T	19: 41,574,502 (GRCm39)	G1086C	probably damaging	Het
Liph	A	G	16: 21,802,898 (GRCm39)	I57T	possibly damaging	Het
Lrrc46	C	T	11: 96,926,997 (GRCm39)	V107M	probably damaging	Het
Ltb4r1	T	C	14: 56,004,832 (GRCm39)	I45T	probably damaging	Het
Mapkbp1	A	G	2: 119,841,554 (GRCm39)		probably benign	Het
Mark3	C	T	12: 111,584,831 (GRCm39)		probably benign	Het
Mug2	C	T	6: 122,036,014 (GRCm39)	A642V	probably benign	Het
Myh11	A	G	16: 14,019,991 (GRCm39)	S1814P	possibly damaging	Het
Ndst1	T	A	18: 60,830,218 (GRCm39)	S631C	probably damaging	Het
Nrbf2	A	T	10: 67,103,691 (GRCm39)	D137E	possibly damaging	Het
Or2ag16	A	T	7: 106,351,989 (GRCm39)	M202K	probably benign	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or6c208	T	A	10: 129,224,090 (GRCm39)	M196K	probably benign	Het
Parn	A	G	16: 13,485,449 (GRCm39)	Y16H	probably damaging	Het
Parp14	A	G	16: 35,664,785 (GRCm39)		probably benign	Het
Prl3d1	C	T	13: 27,283,992 (GRCm39)	T187I	probably benign	Het
Ptgir	G	A	7: 16,641,055 (GRCm39)		probably null	Het
Rabgap1l	C	T	1: 160,059,445 (GRCm39)		probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rnf213	T	C	11: 119,368,055 (GRCm39)	Y4697H	probably benign	Het
Rps6ka4	T	A	19: 6,808,364 (GRCm39)	I598F	probably damaging	Het
Ryr2	C	T	13: 11,684,855 (GRCm39)	V3029M	probably damaging	Het
Slc34a1	T	C	13: 24,003,920 (GRCm39)	F335S	probably damaging	Het
Spata6l	T	C	19: 28,945,032 (GRCm39)	M1V	probably null	Het
Stau2	A	T	1: 16,510,585 (GRCm39)	Y124*	probably null	Het
Tbl3	A	G	17: 24,920,580 (GRCm39)	I652T	probably benign	Het
Trappc3	C	T	4: 126,166,759 (GRCm39)		probably benign	Het
Trim60	A	T	8: 65,454,071 (GRCm39)	F59L	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,648,453 (GRCm39)	F4686S	probably benign	Het
Vcan	T	C	13: 89,840,529 (GRCm39)	T1672A	probably damaging	Het
Vmn1r215	T	A	13: 23,260,758 (GRCm39)	I266N	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,487 (GRCm39)	V657E	possibly damaging	Het
Wdr95	G	T	5: 149,529,802 (GRCm39)	A548S	probably benign	Het
Zfp12	A	G	5: 143,231,500 (GRCm39)	Y609C	probably damaging	Het
Znfx1	C	A	2: 166,897,560 (GRCm39)	E455*	probably null	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
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'- GCTCCTGAGGAATACGGCAAGAATC -3'
(R):5'- AGAGACATTGGACCTCCAGCTCAC -3'

Sequencing Primer
(F):5'- AGTAACCAGCCATTTCCTCGG -3'
(R):5'- ACCTCCAGCTCACCAGGG -3'

Posted On

2014-01-05