Mutagenetix > Incidental Mutation

Incidental Mutation 'R9744:Itih5'

731957

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha (globulin) inhibitor H5

Synonyms

5430408M01Rik, 4631408O11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9744 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10153571-10256529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10251410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 896 (Y896H)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

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

AlphaFold

Q8BJD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026886
AA Change: Y896H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: Y896H

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,505,134	M677L	probably benign	Het
Ankrd24	T	G	10: 81,647,117	D966E	possibly damaging	Het
Arhgef28	A	G	13: 97,957,753	L961P	probably damaging	Het
Atxn1	G	A	13: 45,567,823	Q199*	probably null	Het
Bcl2a1c	G	A	9: 114,330,273	V40I	probably benign	Het
Cep41	A	G	6: 30,656,604	V283A	probably benign	Het
Cerk	A	G	15: 86,149,290	Y311H	probably damaging	Het
Ciz1	A	T	2: 32,363,847	Q13L	unknown	Het
Cpeb2	T	C	5: 43,233,925	S155P		Het
Dmbx1	T	A	4: 115,920,065	E200D	probably damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Erc1	T	C	6: 119,743,399	Y747C	probably damaging	Het
Fhad1	T	C	4: 141,909,813	E1114G	probably damaging	Het
Fndc3a	C	A	14: 72,540,253	E1171*	probably null	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Gys2	A	C	6: 142,448,461	D450E	probably benign	Het
Hmcn1	A	T	1: 150,748,190	I1120N	probably damaging	Het
Ints3	G	T	3: 90,411,298	T210K	probably damaging	Het
Kcna7	A	G	7: 45,406,978	D206G	probably benign	Het
Klhl10	T	A	11: 100,445,570	C128S	probably damaging	Het
Klhl5	T	C	5: 65,162,912	V603A	probably damaging	Het
Mapk15	T	A	15: 75,998,063	I344N	possibly damaging	Het
Mdn1	T	C	4: 32,715,711	F1993L	possibly damaging	Het
Myo1c	T	C	11: 75,671,971	L959P	probably damaging	Het
Nectin1	A	G	9: 43,803,943	Q492R	probably damaging	Het
Nlrp14	A	T	7: 107,197,780	L951F	probably damaging	Het
Nlrp5	T	G	7: 23,421,477	S705R	possibly damaging	Het
Nlrp9a	A	G	7: 26,567,841	Y787C	probably benign	Het
Npsr1	A	G	9: 24,289,886	T189A	probably benign	Het
Nup205	T	C	6: 35,232,575	Y1606H	probably damaging	Het
Olfr1298	C	A	2: 111,645,319	R226L	probably benign	Het
Olfr1346	A	T	7: 6,474,211	I34L	probably benign	Het
Olfr1362	A	G	13: 21,611,657	F104S	possibly damaging	Het
Pitx2	A	T	3: 129,215,818	T129S	probably damaging	Het
Pla2g2c	T	C	4: 138,743,661	S118P	probably damaging	Het
Polr1a	A	G	6: 71,929,388	N396S	probably benign	Het
Prl	A	T	13: 27,064,355	Q135L	probably benign	Het
Prrc2c	A	G	1: 162,678,164	L2555P	possibly damaging	Het
Psg29	A	T	7: 17,210,570	D335V	probably benign	Het
Psme4	T	C	11: 30,815,294		probably null	Het
Ramp2	T	A	11: 101,247,087	S52T	unknown	Het
Skint6	C	T	4: 112,809,163	G1155D	probably damaging	Het
Sorcs1	G	A	19: 50,226,837	R655C	probably damaging	Het
Syne1	A	G	10: 5,324,184	C1867R	probably benign	Het
Tcf21	T	C	10: 22,819,827	D26G	probably benign	Het
Tmem132a	G	A	19: 10,863,314	P418L	probably damaging	Het
Tob1	C	T	11: 94,214,228	R197C	probably damaging	Het
Vmn2r110	A	G	17: 20,574,586	V607A	probably damaging	Het
Vmn2r30	A	G	7: 7,312,285	S850P	possibly 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
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
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
R9582:Itih5	UTSW	2	10190202	missense	probably benign	0.07
X0026:Itih5	UTSW	2	10238559	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTGCTCTCTGCGTTCAAC -3'
(R):5'- GTCCAGAGTAGACCCAATATCC -3'

Sequencing Primer
(F):5'- GCTCTCTGCGTTCAACTTATATCAG -3'
(R):5'- GAGTAGACCCAATATCCCTTCC -3'

Posted On

2022-11-14