Mutagenetix > Incidental Mutations

Incidental Mutation 'R8140:Htra4'

632482

Institutional Source

Beutler Lab

Gene Symbol

Htra4

Ensembl Gene

ENSMUSG00000037406

Gene Name

HtrA serine peptidase 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25024929-25038962 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25030558 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 362 (D362E)

Ref Sequence

ENSEMBL: ENSMUSP00000081044 (fasta)

Gene Model

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

AlphaFold

A2RT60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084031
AA Change: D362E

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081044
Gene: ENSMUSG00000037406
AA Change: D362E

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly 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
R7603:Htra4	UTSW	8	25025700	missense	probably benign	0.03
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
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'- GAGTTTTGTGATACGTGCCC -3'
(R):5'- AGGACATGTGCTTCTCCCTAATG -3'

Sequencing Primer
(F):5'- TGATACGTGCCCCGATATGG -3'
(R):5'- CTCCCTAATGAAGAAGTGGGTCTC -3'

Posted On

2020-06-30