Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Itih5'

654135

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha (globulin) inhibitor H5

Synonyms

5430408M01Rik, 4631408O11Rik

MMRRC Submission

067883-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10153571-10256529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10235058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 332 (N332S)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

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

AlphaFold

Q8BJD1

Predicted Effect

probably benign
Transcript: ENSMUST00000026886
AA Change: N332S

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: N332S

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: 99.8%
20x: 99.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	G	2: 130,770,701	L482S	probably damaging	Het
Abca7	A	T	10: 80,006,161	T1043S	probably benign	Het
Acadvl	T	A	11: 70,011,728	K410*	probably null	Het
Adam8	C	T	7: 139,987,849	G354D	probably benign	Het
Ahctf1	T	C	1: 179,762,610	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,274,589	Q949K	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Ccdc141	T	A	2: 77,059,550	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cyp4a30b	C	A	4: 115,457,775	Q185K	probably benign	Het
Dlx2	A	T	2: 71,545,538	I147K	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Dock7	C	A	4: 99,083,029	V100F		Het
Dspp	C	A	5: 104,177,296	D508E	unknown	Het
Duox2	G	T	2: 122,298,155	T4K	probably benign	Het
Ear1	T	C	14: 43,819,247	N55D	probably damaging	Het
Echdc1	G	C	10: 29,334,246	E179Q	probably damaging	Het
Ehbp1	T	C	11: 22,096,109	M547V	possibly damaging	Het
Erbb2	A	G	11: 98,428,972	N630S	possibly damaging	Het
Fam227a	G	A	15: 79,630,070	S363L	possibly damaging	Het
Fam98b	A	G	2: 117,270,900	R398G	unknown	Het
Fsip2	G	A	2: 82,977,086	D1250N	probably benign	Het
Gdnf	G	T	15: 7,834,653	E182*	probably null	Het
Gys2	T	C	6: 142,461,195	H145R	probably benign	Het
Hcls1	A	G	16: 36,946,641	K69R	probably benign	Het
Kcnb2	T	A	1: 15,312,710	Y87N	probably damaging	Het
Lrriq3	A	G	3: 155,188,236	N525D	probably damaging	Het
Lsg1	A	T	16: 30,561,751	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,072	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814	Y81H	probably damaging	Het
Nup54	T	G	5: 92,425,746	N199T	probably benign	Het
Olfr1136	A	T	2: 87,693,744	I46N	probably damaging	Het
Olfr1261	C	T	2: 89,994,004	L204F	probably benign	Het
Olfr39	T	A	9: 20,286,041	L122*	probably null	Het
Olfr727	T	C	14: 50,127,147	I190T	probably benign	Het
Olfr91	A	G	17: 37,093,772	L34P	probably damaging	Het
Pcnt	G	A	10: 76,420,205	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462	F13L	possibly damaging	Het
Pih1d3	T	A	1: 31,223,268	D110E	probably damaging	Het
Plcb1	T	C	2: 135,250,052		probably null	Het
Ppfibp1	T	C	6: 147,000,950	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,055,262	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,625,556	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,955,133	L1133P	probably benign	Het
Slc16a1	G	T	3: 104,652,833	M151I	probably benign	Het
Tarm1	G	T	7: 3,497,521	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,855,577	I47T	probably damaging	Het
Tmod3	T	C	9: 75,529,398	D85G	probably damaging	Het
Trbv14	T	C	6: 41,135,365	L32P	probably benign	Het
Trim16	T	C	11: 62,850,588	L486P	probably benign	Het
Trmt1l	T	G	1: 151,449,976	S391A	probably benign	Het
Ush2a	T	A	1: 188,850,057	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 20,846,608	A20S	probably benign	Het
Wdr76	A	G	2: 121,510,698	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,580,678	L141S	probably benign	Het
Zfp988	A	G	4: 147,332,351	D414G	probably benign	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
R7452:Itih5	UTSW	2	10238796	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
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
R9582:Itih5	UTSW	2	10190202	missense	probably benign	0.07
R9744:Itih5	UTSW	2	10251410	missense	probably damaging	1.00
X0026:Itih5	UTSW	2	10238559	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGACCATGTTCCAGCAGGG -3'
(R):5'- TAGTATCAGCGCCAACTCCC -3'

Sequencing Primer
(F):5'- ATGTTCCAGCAGGGCAGAC -3'
(R):5'- GCCAACTCCCAAAGTCTTGTC -3'

Posted On

2020-10-20