Mutagenetix > Incidental Mutations

Incidental Mutation 'R7452:Itih5'

577776

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha (globulin) inhibitor H5

Synonyms

5430408M01Rik, 4631408O11Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10153571-10256529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10238796 bp (GRCm38)

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
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,004,318	V262I	probably benign	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably damaging	Het

Other mutations in Itih5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01481:Itih5	APN	2	10190289	missense	probably damaging	1.00
IGL02125:Itih5	APN	2	10240987	missense	probably benign
IGL02370:Itih5	APN	2	10186975	missense	probably benign	0.05
IGL03376:Itih5	APN	2	10206773	missense	probably benign	0.12
IGL02991:Itih5	UTSW	2	10251351	missense	probably benign	0.01
R0090:Itih5	UTSW	2	10164684	missense	probably benign	0.03
R0096:Itih5	UTSW	2	10251378	missense	probably benign	0.02
R0096:Itih5	UTSW	2	10251378	missense	probably benign	0.02
R0158:Itih5	UTSW	2	10234992	splice site	probably benign
R0270:Itih5	UTSW	2	10251264	missense	probably benign	0.38
R0276:Itih5	UTSW	2	10185564	missense	possibly damaging	0.80
R0807:Itih5	UTSW	2	10249188	missense	probably benign	0.00
R0810:Itih5	UTSW	2	10249188	missense	probably benign	0.00
R0903:Itih5	UTSW	2	10249188	missense	probably benign	0.00
R0905:Itih5	UTSW	2	10249188	missense	probably benign	0.00
R0906:Itih5	UTSW	2	10249188	missense	probably benign	0.00
R1104:Itih5	UTSW	2	10251512	missense	probably benign	0.03
R1397:Itih5	UTSW	2	10240807	missense	probably benign	0.14
R1671:Itih5	UTSW	2	10186971	missense	probably benign	0.03
R1971:Itih5	UTSW	2	10238568	missense	probably damaging	1.00
R3684:Itih5	UTSW	2	10238624	missense	possibly damaging	0.93
R3685:Itih5	UTSW	2	10238624	missense	possibly damaging	0.93
R3831:Itih5	UTSW	2	10251270	missense	possibly damaging	0.95
R3934:Itih5	UTSW	2	10245544	missense	probably damaging	0.98
R4670:Itih5	UTSW	2	10190369	missense	probably benign	0.01
R4803:Itih5	UTSW	2	10240581	missense	probably benign
R4950:Itih5	UTSW	2	10235081	missense	probably damaging	0.98
R5020:Itih5	UTSW	2	10240504	splice site	probably null
R5735:Itih5	UTSW	2	10240761	missense	probably benign	0.00
R6454:Itih5	UTSW	2	10240668	missense	probably benign
R6662:Itih5	UTSW	2	10249181	missense	probably benign	0.13
R7019:Itih5	UTSW	2	10190327	missense	probably damaging	1.00
R7068:Itih5	UTSW	2	10249304	missense	probably damaging	0.99
R7246:Itih5	UTSW	2	10187062	splice site	probably null
R7424:Itih5	UTSW	2	10245637	missense	probably damaging	1.00
R7597:Itih5	UTSW	2	10249376	missense	probably damaging	1.00
R8025:Itih5	UTSW	2	10241022	missense	probably benign	0.13
R8253:Itih5	UTSW	2	10238595	missense	probably benign	0.06
R8349:Itih5	UTSW	2	10186989	missense	probably benign	0.01
R8439:Itih5	UTSW	2	10235058	missense	probably benign	0.19
R8449:Itih5	UTSW	2	10186989	missense	probably benign	0.01
R8825:Itih5	UTSW	2	10190420	missense	probably benign	0.00
R9110:Itih5	UTSW	2	10187020	missense	probably benign
X0026:Itih5	UTSW	2	10238559	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