Mutagenetix > Incidental Mutation

Incidental Mutation 'R7424:Itih5'

575892

Institutional Source

Beutler Lab

Gene Symbol

Itih5

Ensembl Gene

ENSMUSG00000025780

Gene Name

inter-alpha-trypsin inhibitor, heavy chain 5

Synonyms

4631408O11Rik, 5430408M01Rik

MMRRC Submission

045502-MU

Accession Numbers

Essential gene?

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

Stock #

R7424 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10158382-10261340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10250448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 716 (S716P)

Ref Sequence

ENSEMBL: ENSMUSP00000026886 (fasta)

Gene Model

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

AlphaFold

Q8BJD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000026886
AA Change: S716P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026886
Gene: ENSMUSG00000025780
AA Change: S716P

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

0.2162

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (76/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,872,284 (GRCm39)	R71C	probably damaging	Het
Aanat	A	T	11: 116,486,455 (GRCm39)		probably benign	Het
Ahrr	G	T	13: 74,405,664 (GRCm39)	S91*	probably null	Het
Ampd1	A	T	3: 102,995,758 (GRCm39)	N223Y	probably benign	Het
Ankar	T	G	1: 72,719,217 (GRCm39)	N544T	probably damaging	Het
Ankk1	A	G	9: 49,330,050 (GRCm39)	S302P	possibly damaging	Het
Bcr	T	C	10: 74,992,932 (GRCm39)	V809A	probably benign	Het
Bpifb2	A	G	2: 153,732,460 (GRCm39)	N353S	possibly damaging	Het
Cyth1	A	T	11: 118,074,835 (GRCm39)		probably null	Het
Ddx5	A	T	11: 106,673,006 (GRCm39)	N506K	probably benign	Het
Dnaja1	A	T	4: 40,730,244 (GRCm39)	I239F	probably benign	Het
Ethe1	C	T	7: 24,305,676 (GRCm39)	T141I	probably damaging	Het
Fhip2b	T	C	14: 70,831,447 (GRCm39)	H29R	probably damaging	Het
Gdap2	A	T	3: 100,109,382 (GRCm39)	I36F	unknown	Het
Gm13030	A	T	4: 138,598,577 (GRCm39)	D115E	unknown	Het
Gm17019	A	T	5: 15,079,386 (GRCm39)	L227Q	probably damaging	Het
Gm9195	T	A	14: 72,673,217 (GRCm39)	E2517D	possibly damaging	Het
Gramd2a	T	A	9: 59,615,354 (GRCm39)	V39D	possibly damaging	Het
Hmcn1	C	T	1: 150,506,017 (GRCm39)	W3836*	probably null	Het
Hspa14	C	T	2: 3,490,078 (GRCm39)	D494N	possibly damaging	Het
Ifit2	A	G	19: 34,550,598 (GRCm39)	N46S	probably benign	Het
Ifna6	A	T	4: 88,746,044 (GRCm39)	E131V	possibly damaging	Het
Ift140	T	C	17: 25,256,010 (GRCm39)	V504A	possibly damaging	Het
Irgc	T	C	7: 24,131,653 (GRCm39)	N388S	probably damaging	Het
Itgal	T	A	7: 126,916,537 (GRCm39)	V743E	probably benign	Het
Kcnab1	A	T	3: 65,173,924 (GRCm39)	K78N	possibly damaging	Het
Kif1a	A	T	1: 92,982,039 (GRCm39)	V787E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt39	A	T	11: 99,408,917 (GRCm39)	V293E	probably damaging	Het
Lrrn4	A	G	2: 132,711,663 (GRCm39)	F720S	possibly damaging	Het
Map2	G	A	1: 66,453,983 (GRCm39)	A958T	possibly damaging	Het
Map3k9	A	G	12: 81,770,871 (GRCm39)	S906P	probably benign	Het
Mdc1	T	C	17: 36,164,201 (GRCm39)	S1250P	probably benign	Het
Meltf	G	A	16: 31,703,764 (GRCm39)	V164I	probably damaging	Het
Mtap	T	G	4: 89,097,699 (GRCm39)		probably null	Het
Mtus1	C	A	8: 41,475,443 (GRCm39)	V184F	probably damaging	Het
Myh1	A	T	11: 67,104,489 (GRCm39)	D1015V	probably damaging	Het
Ndrg1	T	C	15: 66,816,787 (GRCm39)		probably null	Het
Nkd1	G	T	8: 89,311,803 (GRCm39)	V130L	probably benign	Het
Nsfl1c	A	G	2: 151,342,673 (GRCm39)	D81G	probably benign	Het
Nt5c1b	T	A	12: 10,431,391 (GRCm39)		probably null	Het
Nucb1	T	C	7: 45,148,202 (GRCm39)	K204E	possibly damaging	Het
Nwd1	T	G	8: 73,401,801 (GRCm39)	M774R	possibly damaging	Het
Or2m13	A	T	16: 19,225,944 (GRCm39)	V274E	probably damaging	Het
Or52u1	G	C	7: 104,237,907 (GRCm39)	E299Q	probably damaging	Het
Or5an1c	A	T	19: 12,218,318 (GRCm39)	S236T	possibly damaging	Het
Pan3	T	A	5: 147,473,082 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,342,317 (GRCm39)	T1135S	probably benign	Het
Pfas	A	G	11: 68,890,918 (GRCm39)	I331T	probably damaging	Het
Plxna2	T	A	1: 194,488,647 (GRCm39)	I1641N	probably damaging	Het
Pramel27	C	T	4: 143,579,779 (GRCm39)	P455S	probably benign	Het
Ptar1	A	T	19: 23,695,465 (GRCm39)	R311W	probably damaging	Het
Ranbp2	T	G	10: 58,315,016 (GRCm39)	M1912R	probably damaging	Het
Rbm12	A	G	2: 155,939,223 (GRCm39)	F350L	possibly damaging	Het
Sdhaf1	T	C	7: 30,021,468 (GRCm39)	D96G	probably benign	Het
Serpinb6b	T	A	13: 33,152,650 (GRCm39)	M53K	probably damaging	Het
Sh2d6	A	T	6: 72,494,147 (GRCm39)	L147Q	probably benign	Het
Slc19a2	T	A	1: 164,088,445 (GRCm39)	C298S	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
St8sia2	T	A	7: 73,610,650 (GRCm39)	Q211L	possibly damaging	Het
Sult2a2	T	C	7: 13,468,822 (GRCm39)	I96T	possibly damaging	Het
Tab2	G	T	10: 7,783,247 (GRCm39)	H678Q	probably damaging	Het
Tnfaip6	A	G	2: 51,928,228 (GRCm39)	E14G	probably benign	Het
Trip11	A	T	12: 101,851,457 (GRCm39)	L869H	probably damaging	Het
Tslp	T	C	18: 32,952,133 (GRCm39)	Y133H	not run	Het
Ttn	T	C	2: 76,571,334 (GRCm39)	I26520V	probably damaging	Het
Ttn	A	G	2: 76,762,487 (GRCm39)	V3374A	unknown	Het
Tubgcp2	T	A	7: 139,587,837 (GRCm39)	I263F	possibly damaging	Het
Uaca	A	G	9: 60,777,392 (GRCm39)	E593G	probably damaging	Het
Unc13b	C	T	4: 43,172,235 (GRCm39)	T1021I	unknown	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Usp24	C	A	4: 106,236,304 (GRCm39)	D997E	probably benign	Het
Usp54	T	C	14: 20,627,108 (GRCm39)	T517A	probably benign	Het
Vmn1r151	A	T	7: 22,198,505 (GRCm39)	M200K	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,328 (GRCm39)	D295G	probably damaging	Het
Vmn2r70	G	A	7: 85,213,076 (GRCm39)	P444S	probably damaging	Het
Vmn2r85	G	T	10: 130,254,849 (GRCm39)	P612T	probably damaging	Het
Vps13d	A	T	4: 144,875,317 (GRCm39)	V1736D		Het
Zbtb11	A	T	16: 55,810,850 (GRCm39)	H336L	probably benign	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
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'- AAGGACACTGTTCTTGCAGC -3'
(R):5'- AGTTCCTTTACCAATCATCGGTG -3'

Sequencing Primer
(F):5'- GTTCTTGCAGCCTTACGATTATG -3'
(R):5'- TGCCCACTGAGCATCTAGACTG -3'

Posted On

2019-10-07