Mutagenetix > Incidental Mutation

Incidental Mutation 'R7367:Htra4'

571882

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

B430206E18Rik

MMRRC Submission

045451-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25514945-25528978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25523713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 284 (V284E)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

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

AlphaFold

A2RT60

Predicted Effect

probably damaging
Transcript: ENSMUST00000084031
AA Change: V284E

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

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: V284E

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: ENSMUST00000141741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211059

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,996,312 (GRCm39)	T374A	probably benign	Het
Agps	T	A	2: 75,698,657 (GRCm39)	H348Q	possibly damaging	Het
Ankrd34b	C	A	13: 92,574,795 (GRCm39)	T9K	probably benign	Het
Atp10b	A	G	11: 43,138,328 (GRCm39)	Q1203R	probably damaging	Het
B4galnt4	A	G	7: 140,644,388 (GRCm39)	N123D	probably damaging	Het
Ccn6	A	G	10: 39,034,261 (GRCm39)	C114R	probably damaging	Het
Cep250	A	G	2: 155,811,227 (GRCm39)	T358A	probably benign	Het
Cfh	A	T	1: 140,014,259 (GRCm39)	H1188Q	probably damaging	Het
Cisd1	A	G	10: 71,172,190 (GRCm39)	Y31H	probably damaging	Het
Cnga1	G	A	5: 72,762,701 (GRCm39)	S271F	possibly damaging	Het
Cntnap5a	A	G	1: 116,370,025 (GRCm39)	T881A	probably benign	Het
Cracd	T	A	5: 77,004,449 (GRCm39)	L270Q	unknown	Het
Cyp2s1	A	T	7: 25,505,398 (GRCm39)	D355E	possibly damaging	Het
Dnaaf10	A	G	11: 17,182,712 (GRCm39)	Y291C	probably damaging	Het
Dnah11	T	A	12: 117,951,177 (GRCm39)	R3044W	possibly damaging	Het
Dnah17	T	C	11: 118,006,022 (GRCm39)	D730G	probably benign	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Flacc1	A	T	1: 58,706,023 (GRCm39)	I282N	probably benign	Het
Fsd2	A	G	7: 81,184,928 (GRCm39)	I656T	probably damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm45871	A	T	18: 90,609,224 (GRCm39)	H154L	probably benign	Het
Golgb1	T	A	16: 36,718,908 (GRCm39)	N312K	probably benign	Het
H2ac4	A	G	13: 23,935,333 (GRCm39)	D73G	possibly damaging	Het
Hsd17b4	T	A	18: 50,288,252 (GRCm39)	H227Q	probably damaging	Het
Hsd17b6	A	T	10: 127,829,492 (GRCm39)	S237T	probably benign	Het
Kcnv1	C	T	15: 44,972,638 (GRCm39)	C415Y	probably damaging	Het
Kif11	T	A	19: 37,408,789 (GRCm39)	L1037H	probably benign	Het
Lama5	T	C	2: 179,834,751 (GRCm39)	T1347A	probably benign	Het
Lrrc32	G	T	7: 98,148,086 (GRCm39)	E289*	probably null	Het
Lrrc66	T	C	5: 73,765,724 (GRCm39)	T440A	probably benign	Het
Neurl4	T	C	11: 69,799,408 (GRCm39)	L928P	probably damaging	Het
Nos2	G	A	11: 78,840,916 (GRCm39)	C788Y	possibly damaging	Het
Or2c1	A	G	16: 3,657,166 (GRCm39)	T110A	probably damaging	Het
Or4x11	A	G	2: 89,868,156 (GRCm39)	S298G	probably benign	Het
Or5m5	T	C	2: 85,814,687 (GRCm39)	W168R	possibly damaging	Het
Pafah1b3	A	G	7: 24,995,491 (GRCm39)	C156R	probably benign	Het
Pak1ip1	T	G	13: 41,162,371 (GRCm39)	N151K	probably damaging	Het
Pax7	G	A	4: 139,507,060 (GRCm39)	P326S	probably benign	Het
Pex11b	G	A	3: 96,543,994 (GRCm39)	A21T	probably damaging	Het
Pkn2	A	G	3: 142,516,488 (GRCm39)	V546A	probably benign	Het
Ppat	T	A	5: 77,067,711 (GRCm39)	R260*	probably null	Het
Ppp1r13l	C	G	7: 19,104,081 (GRCm39)	S187R	probably benign	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
R3hdm1	A	G	1: 128,081,129 (GRCm39)	D55G	possibly damaging	Het
Rev1	A	T	1: 38,113,488 (GRCm39)	Y526*	probably null	Het
Rp1	A	G	1: 4,418,221 (GRCm39)	W964R	probably benign	Het
Sarnp	A	G	10: 128,669,247 (GRCm39)	I35V	probably damaging	Het
Sec23a	T	C	12: 59,013,785 (GRCm39)	N730S	probably benign	Het
Sh3d19	A	G	3: 86,011,535 (GRCm39)	K374E	probably benign	Het
Sh3tc2	A	G	18: 62,122,577 (GRCm39)	D446G	probably benign	Het
Sugct	T	A	13: 17,819,399 (GRCm39)	I149F	probably damaging	Het
Tle2	A	G	10: 81,416,152 (GRCm39)	N142S	probably damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Trpm1	T	A	7: 63,918,549 (GRCm39)	Y1514N	probably benign	Het
Ubr4	C	T	4: 139,180,002 (GRCm39)	S259L	unknown	Het
Utp20	A	T	10: 88,631,305 (GRCm39)	L892Q	probably benign	Het
Zfp956	C	T	6: 47,940,853 (GRCm39)	T404M	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
R7067:Htra4	UTSW	8	25,523,717 (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

2019-09-13