Mutagenetix > Incidental Mutations

Incidental Mutation 'R7046:Hspa5'

547296

Institutional Source

Beutler Lab

Gene Symbol

Hspa5

Ensembl Gene

ENSMUSG00000026864

Gene Name

heat shock protein 5

Synonyms

Bip, 78kDa, Sez7, Grp78, D2Wsu141e, D2Wsu17e, Hsce70, XAP-1 antigen, mBiP, baffled

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34771970-34777547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34773192 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 127 (P127L)

Ref Sequence

ENSEMBL: ENSMUSP00000097747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028222] [ENSMUST00000100171] [ENSMUST00000137145] [ENSMUST00000145903]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028222
AA Change: P127L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
AA Change: P127L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:HSP70	31	637	8.2e-276	PFAM
Pfam:MreB_Mbl	136	406	1.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100171
AA Change: P127L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
AA Change: P127L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:HSP70	31	637	3.3e-278	PFAM
Pfam:MreB_Mbl	136	406	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137145

Predicted Effect

probably benign
Transcript: ENSMUST00000145903

SMART Domains

Protein: ENSMUSP00000122360
Gene: ENSMUSG00000070953

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	38	90	1.5e-17	PFAM
Pfam:Kelch_4	38	90	2.2e-7	PFAM
Pfam:Kelch_1	55	87	4.5e-7	PFAM
Pfam:Kelch_3	107	155	7e-10	PFAM
Pfam:Kelch_4	146	199	4e-7	PFAM
Pfam:Kelch_3	157	209	1.5e-10	PFAM
Pfam:Kelch_5	197	231	1e-8	PFAM
Pfam:Kelch_4	200	249	3.4e-9	PFAM
Pfam:Kelch_5	247	284	5.1e-8	PFAM
Pfam:Kelch_1	250	292	2.9e-9	PFAM
Pfam:Kelch_6	250	301	1.2e-8	PFAM

Meta Mutation Damage Score

0.7682

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010]
PHENOTYPE: Nullizygous embryos die around implantation. Neonates homozygous for a knock-in allele die of respiratory failure. Mice homozygous for an ENU-induced mutation exhibit abnormal thalamocortical axon patterning, small kidneys, cleft palate, respiratory distress, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,122,940	Y805C	probably damaging	Het
Cabp7	T	A	11: 4,738,886	I195F	probably damaging	Het
Camsap1	T	C	2: 25,945,189	N317S	probably damaging	Het
Ccdc127	T	G	13: 74,352,875	L4V	probably damaging	Het
Ccdc7a	T	C	8: 129,047,619	E145G	probably damaging	Het
Cdh10	T	A	15: 19,013,201	V629D	probably damaging	Het
Cdh23	A	C	10: 60,378,751	L1497R	probably damaging	Het
Chsy3	A	G	18: 59,409,803	K671R	probably benign	Het
Clca4b	T	C	3: 144,915,606	Y569C	probably damaging	Het
Cnga1	T	C	5: 72,629,353		probably benign	Het
Cyp51	T	A	5: 4,100,188	E178D	probably damaging	Het
Defa30	T	A	8: 21,135,455	N78K	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dnah14	G	T	1: 181,623,003	C727F	probably benign	Het
Egf	A	T	3: 129,754,958	W3R	unknown	Het
Egfem1	G	A	3: 29,082,215		probably null	Het
Epb41l1	G	T	2: 156,526,892	V682L	possibly damaging	Het
Etv1	A	G	12: 38,784,370		probably null	Het
Faap100	A	G	11: 120,377,374	F191S	possibly damaging	Het
Fam208a	A	T	14: 27,472,435	L1197F	probably damaging	Het
Fmo1	T	A	1: 162,839,694	D184V	possibly damaging	Het
Ghrl	A	G	6: 113,719,383	L16P	probably damaging	Het
Gria4	T	A	9: 4,420,278	L861F	probably damaging	Het
Gsr	T	A	8: 33,695,062	M428K	probably damaging	Het
Kbtbd12	A	G	6: 88,618,515	M111T	possibly damaging	Het
Krtap21-1	G	T	16: 89,403,735	Y6*	probably null	Het
Lin9	A	G	1: 180,667,370	D219G	probably damaging	Het
Lrrc38	A	G	4: 143,350,169	M1V	probably null	Het
Macc1	T	G	12: 119,447,038	F514V	probably benign	Het
Madcam1	C	T	10: 79,668,305	R242C	probably benign	Het
Mfhas1	T	C	8: 35,664,790	S1037P	probably benign	Het
Micall2	C	T	5: 139,708,944		probably benign	Het
Mtr	C	A	13: 12,190,209	A1122S	possibly damaging	Het
Muc6	T	A	7: 141,640,189		probably benign	Het
Myh15	T	A	16: 49,109,299	C529*	probably null	Het
Napsa	T	C	7: 44,585,085	V247A	probably damaging	Het
Nr2c2	A	G	6: 92,158,357	T309A	probably damaging	Het
Olfr133	A	T	17: 38,148,800	M71L	probably benign	Het
Olfr357	T	A	2: 36,997,161	V117E	probably benign	Het
Olfr385	A	T	11: 73,589,732	I2K	probably benign	Het
Osgepl1	A	T	1: 53,321,551	I384F	possibly damaging	Het
Otud4	C	T	8: 79,651,042	L111F	possibly damaging	Het
Pds5b	A	G	5: 150,749,920	Y481C	probably damaging	Het
Pdzrn4	T	A	15: 92,770,422	Y818*	probably null	Het
Pin1rt1	T	C	2: 104,714,422	S122G	probably benign	Het
Pkdcc	A	T	17: 83,224,258	Y487F	probably damaging	Het
Plxna4	C	T	6: 32,516,505	C392Y	probably damaging	Het
Psd4	T	G	2: 24,394,973	M283R	probably benign	Het
Ralgds	G	T	2: 28,540,729	G68W	probably damaging	Het
Rmdn2	T	A	17: 79,621,379	I20N	probably damaging	Het
Sestd1	A	G	2: 77,192,566	V486A	probably benign	Het
Svs1	T	A	6: 48,987,578	D173E	probably benign	Het
Tango6	A	G	8: 106,807,116	H958R	possibly damaging	Het
Taok3	C	T	5: 117,273,706	R857C	probably damaging	Het
Theg	G	T	10: 79,586,962	D35E	probably benign	Het
Trio	T	C	15: 27,832,051	E1245G	probably damaging	Het
Usp19	C	T	9: 108,497,135	H763Y	possibly damaging	Het
Vmn1r185	A	G	7: 26,611,226	S285P	probably damaging	Het
Vmn1r45	T	G	6: 89,933,556	Y144S	probably benign	Het
Vwa3b	G	A	1: 37,173,878	E152K	probably benign	Het
Wdr61	T	A	9: 54,719,255	D275V	probably damaging	Het
Xrcc5	G	A	1: 72,394,716	M731I	probably benign	Het
Zfp619	G	A	7: 39,537,363	S939N	possibly damaging	Het
Zfp874a	C	A	13: 67,442,299	C422F	probably damaging	Het
Zfp948	A	G	17: 21,588,457	D637G	possibly damaging	Het

Other mutations in Hspa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01925:Hspa5	APN	2	34774718	missense	probably benign
IGL01997:Hspa5	APN	2	34772315	utr 5 prime	probably benign
IGL02239:Hspa5	APN	2	34772776	missense	probably benign	0.00
IGL03326:Hspa5	APN	2	34776117	unclassified	probably benign
R0281:Hspa5	UTSW	2	34774320	missense	probably damaging	1.00
R1052:Hspa5	UTSW	2	34775098	missense	probably damaging	0.99
R1687:Hspa5	UTSW	2	34775824	missense	probably benign	0.00
R1741:Hspa5	UTSW	2	34772692	missense	possibly damaging	0.91
R1833:Hspa5	UTSW	2	34776053	nonsense	probably null
R1842:Hspa5	UTSW	2	34775803	missense	probably damaging	1.00
R1851:Hspa5	UTSW	2	34774678	missense	possibly damaging	0.64
R1864:Hspa5	UTSW	2	34774541	missense	probably damaging	0.99
R1865:Hspa5	UTSW	2	34774541	missense	probably damaging	0.99
R2173:Hspa5	UTSW	2	34774662	missense	probably damaging	1.00
R5027:Hspa5	UTSW	2	34775815	missense	probably damaging	1.00
R5889:Hspa5	UTSW	2	34774617	missense	probably damaging	1.00
R6046:Hspa5	UTSW	2	34775749	missense	possibly damaging	0.94
R6515:Hspa5	UTSW	2	34772404	missense	probably benign	0.05
R7045:Hspa5	UTSW	2	34773192	missense	probably damaging	0.99
R7047:Hspa5	UTSW	2	34773192	missense	probably damaging	0.99
R7049:Hspa5	UTSW	2	34773192	missense	probably damaging	0.99
R7185:Hspa5	UTSW	2	34775126	missense	probably damaging	1.00
R7238:Hspa5	UTSW	2	34772371	missense	unknown
R7879:Hspa5	UTSW	2	34775929	missense	probably benign	0.05
X0067:Hspa5	UTSW	2	34775101	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGTATTTAGGGGTTGCCAC -3'
(R):5'- CCTACACAAGTCATCGAGGG -3'

Sequencing Primer
(F):5'- TCTACAATACAGCTGTGCTCAG -3'
(R):5'- CACAAGTCATCGAGGGGGAGC -3'

Posted On

2019-05-13