Mutagenetix > Incidental Mutation

Incidental Mutation 'R7067:Htra4'

548633

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

B430206E18Rik

MMRRC Submission

045163-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7067 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25514945-25528978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25523717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 283 (V283M)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

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

AlphaFold

A2RT60

Predicted Effect

probably damaging
Transcript: ENSMUST00000084031
AA Change: V283M

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

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: V283M

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

Meta Mutation Damage Score

0.6428

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,852,921 (GRCm39)	S72C	probably damaging	Het
Abca13	A	G	11: 9,241,845 (GRCm39)	D1236G	probably benign	Het
Abcc6	T	C	7: 45,668,114 (GRCm39)	N165D	probably benign	Het
Aebp1	A	G	11: 5,816,431 (GRCm39)		probably null	Het
Afg2a	C	T	3: 37,485,847 (GRCm39)	Q190*	probably null	Het
Anapc4	A	G	5: 53,019,577 (GRCm39)	T580A	probably benign	Het
Apob	T	C	12: 8,059,423 (GRCm39)	I2602T	probably damaging	Het
Arap2	A	G	5: 62,811,387 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,968,673 (GRCm39)		probably null	Het
Bend4	A	G	5: 67,557,611 (GRCm39)	Y402H	probably damaging	Het
Ccn2	A	G	10: 24,472,873 (GRCm39)	Y261C	probably benign	Het
Crtc2	A	G	3: 90,167,489 (GRCm39)	N271S	probably benign	Het
Csf2rb2	A	T	15: 78,176,694 (GRCm39)	W233R	probably damaging	Het
Cyp2u1	G	A	3: 131,087,202 (GRCm39)	L460F	probably damaging	Het
Dnm3	A	G	1: 162,148,540 (GRCm39)	L277P	probably damaging	Het
Efemp1	A	T	11: 28,817,926 (GRCm39)	N135I	probably damaging	Het
Elapor2	G	T	5: 9,316,295 (GRCm39)	A9S	possibly damaging	Het
Fsip2	T	A	2: 82,811,078 (GRCm39)	S2466T	possibly damaging	Het
Gal3st2	C	T	1: 93,802,447 (GRCm39)	A276V	possibly damaging	Het
Gm47985	A	T	1: 151,059,241 (GRCm39)	D294V	unknown	Het
Golga1	A	T	2: 38,937,731 (GRCm39)	D104E	probably benign	Het
Hnrnpr	C	T	4: 136,054,704 (GRCm39)	A219V	probably damaging	Het
Hsd3b7	T	C	7: 127,399,888 (GRCm39)		probably null	Het
Hspa8	T	C	9: 40,715,921 (GRCm39)	I562T	probably damaging	Het
Il36rn	C	T	2: 24,167,541 (GRCm39)	R11*	probably null	Het
Iqcd	A	G	5: 120,743,212 (GRCm39)	T325A	probably damaging	Het
Kif23	A	T	9: 61,832,271 (GRCm39)	M624K	probably benign	Het
Krt25	G	T	11: 99,208,209 (GRCm39)	Q340K	probably benign	Het
Lamp3	T	A	16: 19,518,413 (GRCm39)	N275Y	probably damaging	Het
Lpin2	A	C	17: 71,551,853 (GRCm39)	K789T	possibly damaging	Het
Mroh2b	T	C	15: 4,929,986 (GRCm39)	I24T	probably benign	Het
Muc16	T	A	9: 18,569,547 (GRCm39)	I991F	unknown	Het
Ntf5	T	A	7: 45,065,048 (GRCm39)	L60Q	probably damaging	Het
Nuak1	A	G	10: 84,276,158 (GRCm39)	S22P	possibly damaging	Het
Obox8	T	C	7: 14,066,979 (GRCm39)	T22A	possibly damaging	Het
Or8k21	T	A	2: 86,144,911 (GRCm39)	T240S	probably damaging	Het
Pde8a	T	C	7: 80,967,074 (GRCm39)	V405A	probably benign	Het
Phc2	T	C	4: 128,640,934 (GRCm39)	S147P	probably benign	Het
Pole	G	T	5: 110,482,084 (GRCm39)	G142V	probably damaging	Het
Poli	G	A	18: 70,642,488 (GRCm39)	Q508*	probably null	Het
Repin1	T	A	6: 48,574,850 (GRCm39)	L537*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Slc30a2	T	A	4: 134,071,529 (GRCm39)		probably null	Het
Slit3	A	G	11: 35,399,057 (GRCm39)	S141G	probably benign	Het
Spon2	A	G	5: 33,371,958 (GRCm39)	S283P	probably damaging	Het
Srgap3	A	T	6: 112,734,266 (GRCm39)		probably benign	Het
Syde2	A	G	3: 145,694,019 (GRCm39)	D89G	probably benign	Het
Syne1	A	G	10: 5,184,586 (GRCm39)	I4099T	probably damaging	Het
Syt5	T	C	7: 4,546,075 (GRCm39)	D105G	probably benign	Het
Tlx3	C	T	11: 33,153,204 (GRCm39)	G86S	probably damaging	Het
Trim24	A	T	6: 37,934,775 (GRCm39)		probably null	Het
Umodl1	G	A	17: 31,201,246 (GRCm39)	V392I	probably damaging	Het
Unc80	C	A	1: 66,685,731 (GRCm39)	T2285K	possibly damaging	Het
Vars1	G	A	17: 35,230,455 (GRCm39)	V513I	probably damaging	Het
Vmn1r87	T	A	7: 12,865,849 (GRCm39)	Q146L	probably benign	Het
Vmn2r62	T	C	7: 42,414,302 (GRCm39)	I714V	probably benign	Het
Xbp1	T	A	11: 5,474,275 (GRCm39)	S159T	probably damaging	Het
Xrn1	T	A	9: 95,851,565 (GRCm39)	H194Q	probably damaging	Het
Zc3h4	A	T	7: 16,162,976 (GRCm39)	K459*	probably null	Het
Zdhhc6	G	A	19: 55,292,871 (GRCm39)	R292*	probably null	Het
Zfp383	T	A	7: 29,608,071 (GRCm39)	M1K	probably null	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	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
R1173:Htra4	UTSW	8	25,520,635 (GRCm39)	missense	possibly damaging	0.92
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
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

PCR Primer
(F):5'- CCTGGCTGTATCTTCTAGGCTG -3'
(R):5'- TAAGCCATCTCCCTGGAAGC -3'

Sequencing Primer
(F):5'- CTGTGAACAGACTCCCAGAGTG -3'
(R):5'- TCTCCCTGGAAGCTAGAAGC -3'

Posted On

2019-05-13