Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Itih5'

577776

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha-trypsin inhibitor, heavy chain 5

Synonyms

4631408O11Rik, 5430408M01Rik

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

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

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10158382-10261340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10243607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 448 (E448G)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

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

AlphaFold

Q8BJD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026886
AA Change: E448G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: E448G

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adamts5	T	A	16: 85,674,869 (GRCm39)	T432S	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arap2	A	T	5: 62,833,892 (GRCm39)	S858R	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
F7	C	T	8: 13,085,215 (GRCm39)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Ift80	T	C	3: 68,901,615 (GRCm39)		probably null	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Trp53bp2	C	T	1: 182,274,133 (GRCm39)	Q95*	probably null	Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	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
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
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'- CGTGGCCCAGAATGACATTG -3'
(R):5'- CCCCACGGTAACATTCCTTAATGC -3'

Sequencing Primer
(F):5'- ATTGAAGACCGAAGTGTGTCCCTC -3'
(R):5'- CGGTAACATTCCTTAATGCAATGAAC -3'

Posted On

2019-10-07