Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Htra4'

588118

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25024929-25038962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 25025700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 441 (I441L)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033961] [ENSMUST00000084031] [ENSMUST00000210536] [ENSMUST00000210758]

AlphaFold

A2RT60

Predicted Effect

probably benign
Transcript: ENSMUST00000033961

SMART Domains

Protein: ENSMUSP00000033961
Gene: ENSMUSG00000031556

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:TM2	145	194	1.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084031
AA Change: I441L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: I441L

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: ENSMUST00000210536

Predicted Effect

probably benign
Transcript: ENSMUST00000210758

Coding Region Coverage

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

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nek9	A	G	12: 85,303,514	F929L	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably damaging	Het

Other mutations in Htra4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Htra4	APN	8	25033571	missense	probably damaging	0.98
IGL01738:Htra4	APN	8	25025711	missense	probably damaging	0.96
IGL02307:Htra4	APN	8	25033694	missense	probably damaging	1.00
IGL03382:Htra4	APN	8	25029698	missense	probably benign	0.17
R0057:Htra4	UTSW	8	25038808	missense	probably benign
R0906:Htra4	UTSW	8	25037144	missense	probably benign	0.00
R1075:Htra4	UTSW	8	25033596	missense	probably benign	0.00
R1173:Htra4	UTSW	8	25030619	missense	possibly damaging	0.92
R1180:Htra4	UTSW	8	25033719	missense	probably damaging	1.00
R1854:Htra4	UTSW	8	25033581	missense	probably damaging	1.00
R2030:Htra4	UTSW	8	25033577	missense	probably damaging	1.00
R2225:Htra4	UTSW	8	25025720	missense	probably benign	0.42
R4457:Htra4	UTSW	8	25038658	missense	possibly damaging	0.90
R4626:Htra4	UTSW	8	25037114	missense	probably benign	0.29
R4746:Htra4	UTSW	8	25033697	missense	probably damaging	1.00
R4797:Htra4	UTSW	8	25033659	missense	probably damaging	1.00
R5369:Htra4	UTSW	8	25033569	missense	possibly damaging	0.95
R6846:Htra4	UTSW	8	25030545	missense	probably damaging	1.00
R6911:Htra4	UTSW	8	25025705	missense	probably damaging	0.96
R7067:Htra4	UTSW	8	25033701	missense	probably damaging	1.00
R7367:Htra4	UTSW	8	25033697	missense	probably damaging	1.00
R7446:Htra4	UTSW	8	25037165	missense	probably benign	0.09
R7725:Htra4	UTSW	8	25037153	missense	possibly damaging	0.94
R7729:Htra4	UTSW	8	25037077	missense	possibly damaging	0.63
R7893:Htra4	UTSW	8	25033679	missense	possibly damaging	0.81
R7988:Htra4	UTSW	8	25030510	critical splice donor site	probably null
R8140:Htra4	UTSW	8	25030558	missense	possibly damaging	0.75
R9169:Htra4	UTSW	8	25030117	missense	probably damaging	1.00
R9223:Htra4	UTSW	8	25037032	missense	possibly damaging	0.94
R9229:Htra4	UTSW	8	25038541	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGCACCTCTTCGATACAAAAC -3'
(R):5'- CCAAATGGGGATGACTAGAACTC -3'

Sequencing Primer
(F):5'- CAGGTGTGACTGTCAGAA -3'
(R):5'- AATGGGGATGACTAGAACTCTTCTTG -3'

Posted On

2019-10-24