Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Htra4'

348785

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

B430206E18Rik

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25514945-25528978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25527130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 222 (N222D)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064883] [ENSMUST00000084031] [ENSMUST00000128715]

AlphaFold

A2RT60

Predicted Effect

probably benign
Transcript: ENSMUST00000064883

SMART Domains

Protein: ENSMUSP00000066546
Gene: ENSMUSG00000031557

Domain	Start	End	E-Value	Type
PH	8	115	3.11e-10	SMART
PH	199	300	1.91e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084031
AA Change: N222D

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: N222D

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

probably benign
Transcript: ENSMUST00000128715

SMART Domains

Protein: ENSMUSP00000122564
Gene: ENSMUSG00000031557

Domain	Start	End	E-Value	Type
PH	8	115	3.11e-10	SMART
PH	199	300	1.91e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211059

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Poll	C	A	19: 45,543,563 (GRCm39)	M385I	probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	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
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

PCR Primer
(F):5'- TCCTCACATGTGAAGGCTCTG -3'
(R):5'- CTCACAAAGCACATGGAAGTGG -3'

Sequencing Primer
(F):5'- TCACATGTGAAGGCTCTGACTCAG -3'
(R):5'- CTGGAAACGTAGCTGATAAACG -3'

Posted On

2015-10-08