Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Hspa5'

189395

Institutional Source

Beutler Lab

Gene Symbol

Hspa5

Ensembl Gene

ENSMUSG00000026864

Gene Name

heat shock protein 5

Synonyms

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

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34662102-34666541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34665836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 560 (I560T)

Ref Sequence

ENSEMBL: ENSMUSP00000097747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028222] [ENSMUST00000100171] [ENSMUST00000113086] [ENSMUST00000118108] [ENSMUST00000137145] [ENSMUST00000145903]

AlphaFold

P20029

Predicted Effect

probably benign
Transcript: ENSMUST00000028222
AA Change: I560T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
AA Change: I560T

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 benign
Transcript: ENSMUST00000047963

SMART Domains

Protein: ENSMUSP00000037746
Gene: ENSMUSG00000070953

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	5	51	6.7e-13	PFAM
Pfam:Kelch_4	5	58	2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100171
AA Change: I560T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
AA Change: I560T

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: ENSMUST00000113086

SMART Domains

Protein: ENSMUSP00000108709
Gene: ENSMUSG00000070953

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	30	82	5e-15	PFAM
Pfam:Kelch_4	30	86	6.7e-10	PFAM
Pfam:Kelch_3	47	96	1e-12	PFAM
Pfam:Kelch_4	87	140	4.6e-7	PFAM
Pfam:Kelch_3	98	150	1.6e-9	PFAM
Pfam:Kelch_5	138	174	6.2e-8	PFAM
Pfam:Kelch_1	141	186	8.3e-7	PFAM
Pfam:Kelch_4	141	190	2.3e-10	PFAM
Pfam:Kelch_6	141	190	4.1e-10	PFAM
Pfam:Kelch_3	151	200	3.5e-8	PFAM
Pfam:Kelch_5	188	225	1.8e-7	PFAM
Pfam:Kelch_1	191	233	2.8e-9	PFAM
Pfam:Kelch_4	193	240	9.4e-9	PFAM
Pfam:Kelch_3	201	250	6.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118108

SMART Domains

Protein: ENSMUSP00000113099
Gene: ENSMUSG00000070953

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	30	82	2.8e-16	PFAM
Pfam:Kelch_4	30	82	3.7e-6	PFAM
Pfam:Kelch_3	99	147	8.2e-9	PFAM
Pfam:Kelch_4	138	191	2.7e-6	PFAM
Pfam:Kelch_3	149	201	7.9e-9	PFAM
Pfam:Kelch_5	189	225	2.8e-7	PFAM
Pfam:Kelch_1	192	237	5.2e-6	PFAM
Pfam:Kelch_4	192	241	1.3e-9	PFAM
Pfam:Kelch_6	192	241	2.4e-9	PFAM
Pfam:Kelch_3	202	251	1.7e-7	PFAM
Pfam:Kelch_5	239	276	8.1e-7	PFAM
Pfam:Kelch_1	242	284	1.8e-8	PFAM
Pfam:Kelch_4	244	291	5.5e-8	PFAM
Pfam:Kelch_3	252	301	3.2e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129333

Predicted Effect

probably benign
Transcript: ENSMUST00000137145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145466

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Hspa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01925:Hspa5	APN	2	34,664,730 (GRCm39)	missense	probably benign
IGL01997:Hspa5	APN	2	34,662,327 (GRCm39)	utr 5 prime	probably benign
IGL02239:Hspa5	APN	2	34,662,788 (GRCm39)	missense	probably benign	0.00
IGL03326:Hspa5	APN	2	34,666,129 (GRCm39)	unclassified	probably benign
R0281:Hspa5	UTSW	2	34,664,332 (GRCm39)	missense	probably damaging	1.00
R1052:Hspa5	UTSW	2	34,665,110 (GRCm39)	missense	probably damaging	0.99
R1741:Hspa5	UTSW	2	34,662,704 (GRCm39)	missense	possibly damaging	0.91
R1833:Hspa5	UTSW	2	34,666,065 (GRCm39)	nonsense	probably null
R1842:Hspa5	UTSW	2	34,665,815 (GRCm39)	missense	probably damaging	1.00
R1851:Hspa5	UTSW	2	34,664,690 (GRCm39)	missense	possibly damaging	0.64
R1864:Hspa5	UTSW	2	34,664,553 (GRCm39)	missense	probably damaging	0.99
R1865:Hspa5	UTSW	2	34,664,553 (GRCm39)	missense	probably damaging	0.99
R2173:Hspa5	UTSW	2	34,664,674 (GRCm39)	missense	probably damaging	1.00
R5027:Hspa5	UTSW	2	34,665,827 (GRCm39)	missense	probably damaging	1.00
R5889:Hspa5	UTSW	2	34,664,629 (GRCm39)	missense	probably damaging	1.00
R6046:Hspa5	UTSW	2	34,665,761 (GRCm39)	missense	possibly damaging	0.94
R6515:Hspa5	UTSW	2	34,662,416 (GRCm39)	missense	probably benign	0.05
R7045:Hspa5	UTSW	2	34,663,204 (GRCm39)	missense	probably damaging	0.99
R7046:Hspa5	UTSW	2	34,663,204 (GRCm39)	missense	probably damaging	0.99
R7047:Hspa5	UTSW	2	34,663,204 (GRCm39)	missense	probably damaging	0.99
R7049:Hspa5	UTSW	2	34,663,204 (GRCm39)	missense	probably damaging	0.99
R7185:Hspa5	UTSW	2	34,665,138 (GRCm39)	missense	probably damaging	1.00
R7238:Hspa5	UTSW	2	34,662,383 (GRCm39)	missense	unknown
R7879:Hspa5	UTSW	2	34,665,941 (GRCm39)	missense	probably benign	0.05
R9317:Hspa5	UTSW	2	34,666,070 (GRCm39)	missense	probably benign	0.45
R9507:Hspa5	UTSW	2	34,664,610 (GRCm39)	missense	probably benign
R9701:Hspa5	UTSW	2	34,664,649 (GRCm39)	nonsense	probably null
X0067:Hspa5	UTSW	2	34,665,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTGCCCTGGCTTTGTCAATAG -3'
(R):5'- AATGTCCGCATCCTGGTGGCTTTC -3'

Sequencing Primer
(F):5'- CCCCAGATTGAAGTCACTTTTGAG -3'
(R):5'- GTGGCTTTCCAGCCATTCAATC -3'

Posted On

2014-05-14