Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Htra4'

99720

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

B430206E18Rik

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25514945-25528978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25520635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 342 (D342G)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084031]

AlphaFold

A2RT60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084031
AA Change: D342G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: D342G

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IB	37	112	5.44e-7	SMART
KAZAL	109	158	7.92e-4	SMART
Pfam:Trypsin	182	368	5.5e-15	PFAM
Pfam:Trypsin_2	208	346	2.1e-34	PFAM
PDZ	385	470	5.34e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176814

Meta Mutation Damage Score

0.3379

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cd151	A	C	7: 141,050,569 (GRCm39)	T241P	probably damaging	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Htra4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Htra4	APN	8	25,523,587 (GRCm39)	missense	probably damaging	0.98
IGL01738:Htra4	APN	8	25,515,727 (GRCm39)	missense	probably damaging	0.96
IGL02307:Htra4	APN	8	25,523,710 (GRCm39)	missense	probably damaging	1.00
IGL03382:Htra4	APN	8	25,519,714 (GRCm39)	missense	probably benign	0.17
R0057:Htra4	UTSW	8	25,528,824 (GRCm39)	missense	probably benign
R0906:Htra4	UTSW	8	25,527,160 (GRCm39)	missense	probably benign	0.00
R1075:Htra4	UTSW	8	25,523,612 (GRCm39)	missense	probably benign	0.00
R1180:Htra4	UTSW	8	25,523,735 (GRCm39)	missense	probably damaging	1.00
R1854:Htra4	UTSW	8	25,523,597 (GRCm39)	missense	probably damaging	1.00
R2030:Htra4	UTSW	8	25,523,593 (GRCm39)	missense	probably damaging	1.00
R2225:Htra4	UTSW	8	25,515,736 (GRCm39)	missense	probably benign	0.42
R4457:Htra4	UTSW	8	25,528,674 (GRCm39)	missense	possibly damaging	0.90
R4626:Htra4	UTSW	8	25,527,130 (GRCm39)	missense	probably benign	0.29
R4746:Htra4	UTSW	8	25,523,713 (GRCm39)	missense	probably damaging	1.00
R4797:Htra4	UTSW	8	25,523,675 (GRCm39)	missense	probably damaging	1.00
R5369:Htra4	UTSW	8	25,523,585 (GRCm39)	missense	possibly damaging	0.95
R6846:Htra4	UTSW	8	25,520,561 (GRCm39)	missense	probably damaging	1.00
R6911:Htra4	UTSW	8	25,515,721 (GRCm39)	missense	probably damaging	0.96
R7067:Htra4	UTSW	8	25,523,717 (GRCm39)	missense	probably damaging	1.00
R7367:Htra4	UTSW	8	25,523,713 (GRCm39)	missense	probably damaging	1.00
R7446:Htra4	UTSW	8	25,527,181 (GRCm39)	missense	probably benign	0.09
R7603:Htra4	UTSW	8	25,515,716 (GRCm39)	missense	probably benign	0.03
R7725:Htra4	UTSW	8	25,527,169 (GRCm39)	missense	possibly damaging	0.94
R7729:Htra4	UTSW	8	25,527,093 (GRCm39)	missense	possibly damaging	0.63
R7893:Htra4	UTSW	8	25,523,695 (GRCm39)	missense	possibly damaging	0.81
R7988:Htra4	UTSW	8	25,520,526 (GRCm39)	critical splice donor site	probably null
R8140:Htra4	UTSW	8	25,520,574 (GRCm39)	missense	possibly damaging	0.75
R9169:Htra4	UTSW	8	25,520,133 (GRCm39)	missense	probably damaging	1.00
R9223:Htra4	UTSW	8	25,527,048 (GRCm39)	missense	possibly damaging	0.94
R9229:Htra4	UTSW	8	25,528,557 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2014-01-15