Mutagenetix > Incidental Mutation

Incidental Mutation 'R1842:Hspa5'

205796

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

039867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1842 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34662102-34666541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34665815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 553 (D553G)

Ref Sequence

ENSEMBL: ENSMUSP00000097747 (fasta)

Gene Model

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

AlphaFold

P20029

Predicted Effect

probably damaging
Transcript: ENSMUST00000028222
AA Change: D553G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
AA Change: D553G

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 damaging
Transcript: ENSMUST00000100171
AA Change: D553G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
AA Change: D553G

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: 97.4%
3x: 96.7%
10x: 94.8%
20x: 90.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,087,865 (GRCm39)	N1087K	probably benign	Het
Abcc3	G	A	11: 94,250,438 (GRCm39)	T921I	probably benign	Het
Abr	T	A	11: 76,399,812 (GRCm39)	I4F	probably damaging	Het
Adcy10	T	A	1: 165,330,812 (GRCm39)	V25D	probably damaging	Het
Ahnak	T	A	19: 8,983,231 (GRCm39)	M1505K	probably damaging	Het
Alms1-ps2	T	C	6: 85,773,231 (GRCm39)		noncoding transcript	Het
Apob	C	G	12: 8,061,559 (GRCm39)	T3347S	probably damaging	Het
Arhgap27	C	A	11: 103,230,822 (GRCm39)	G11W	probably damaging	Het
Ccdc110	A	T	8: 46,393,605 (GRCm39)	I106F	probably damaging	Het
Ccdc28b	T	A	4: 129,514,806 (GRCm39)	D101V	probably damaging	Het
Ccdc30	T	C	4: 119,188,324 (GRCm39)	E566G	probably benign	Het
Cenpm	T	C	15: 82,123,565 (GRCm39)	S111G	probably benign	Het
Cep55	A	G	19: 38,046,348 (GRCm39)	I34V	probably benign	Het
Dcdc2a	T	C	13: 25,291,585 (GRCm39)	L190S	probably damaging	Het
Dhh	T	C	15: 98,792,441 (GRCm39)		probably null	Het
Dst	A	G	1: 34,203,200 (GRCm39)	N703S	probably null	Het
E030025P04Rik	G	A	11: 109,030,396 (GRCm39)	L164F	unknown	Het
Efcab5	A	G	11: 77,025,701 (GRCm39)	V538A	probably benign	Het
Egflam	A	G	15: 7,333,422 (GRCm39)	S177P	probably benign	Het
Ehbp1l1	A	T	19: 5,775,958 (GRCm39)	C31S	probably damaging	Het
Eif2d	C	A	1: 131,098,797 (GRCm39)	Q532K	probably damaging	Het
Elf3	T	C	1: 135,184,531 (GRCm39)	D175G	possibly damaging	Het
F5	T	C	1: 164,012,129 (GRCm39)	V449A	probably damaging	Het
Fam110a	A	T	2: 151,811,954 (GRCm39)	I272N	probably damaging	Het
Fbxo34	A	G	14: 47,768,464 (GRCm39)	D608G	probably damaging	Het
Flrt2	T	C	12: 95,746,058 (GRCm39)	L132P	probably damaging	Het
Frg2f1	A	T	4: 119,388,277 (GRCm39)	V74D	possibly damaging	Het
Gad1	G	T	2: 70,404,597 (GRCm39)	E162D	probably benign	Het
Glb1l	A	G	1: 75,177,104 (GRCm39)	V444A	probably damaging	Het
Gm10770	G	A	2: 150,021,076 (GRCm39)	T147I	probably damaging	Het
Gm43302	T	C	5: 105,425,602 (GRCm39)	I276V	probably benign	Het
Greb1	T	C	12: 16,746,244 (GRCm39)	H1314R	probably damaging	Het
Hapln2	A	G	3: 87,931,308 (GRCm39)	V69A	probably damaging	Het
Hcn1	T	C	13: 118,112,544 (GRCm39)	I836T	probably damaging	Het
Iqgap1	A	T	7: 80,410,631 (GRCm39)	I194N	probably damaging	Het
Kansl3	A	G	1: 36,390,825 (GRCm39)	V304A	probably damaging	Het
Kdm5d	C	T	Y: 927,798 (GRCm39)	S716L	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,409,337 (GRCm39)	I1594T	possibly damaging	Het
Lrp2bp	A	G	8: 46,464,152 (GRCm39)	D15G	probably benign	Het
Map4k1	T	C	7: 28,686,588 (GRCm39)	L170P	probably damaging	Het
Mast3	A	G	8: 71,233,037 (GRCm39)	F1108L	possibly damaging	Het
Mettl5	G	T	2: 69,715,686 (GRCm39)	L6I	unknown	Het
Mfsd14a	A	T	3: 116,426,057 (GRCm39)	F447I	possibly damaging	Het
Mrc2	A	G	11: 105,228,546 (GRCm39)	I642V	probably damaging	Het
Necap1	A	G	6: 122,851,547 (GRCm39)	Y7C	probably damaging	Het
Nsd1	G	A	13: 55,394,258 (GRCm39)	E723K	probably damaging	Het
Nsun3	A	T	16: 62,596,755 (GRCm39)	L121H	probably damaging	Het
Nsun6	A	T	2: 15,014,288 (GRCm39)	M284K	probably damaging	Het
Nutf2	T	C	8: 106,603,242 (GRCm39)		probably null	Het
Odad2	A	T	18: 7,223,551 (GRCm39)	D497E	probably benign	Het
Or1j20	A	T	2: 36,759,601 (GRCm39)	N8Y	probably damaging	Het
Or5d38	A	T	2: 87,954,471 (GRCm39)	M286K	probably damaging	Het
Pacs1	T	C	19: 5,205,912 (GRCm39)	E288G	probably damaging	Het
Peg10	A	T	6: 4,756,381 (GRCm39)		probably benign	Het
Rab38	G	A	7: 88,099,730 (GRCm39)	E82K	possibly damaging	Het
Rgsl1	T	A	1: 153,675,543 (GRCm39)	E206V	probably damaging	Het
Saxo5	T	A	8: 3,533,668 (GRCm39)	F295L	possibly damaging	Het
Scube3	G	A	17: 28,384,063 (GRCm39)	V521I	probably damaging	Het
Sgpp1	C	T	12: 75,762,982 (GRCm39)	V400M	probably damaging	Het
Slc18b1	T	C	10: 23,681,891 (GRCm39)	S152P	possibly damaging	Het
Slit1	A	T	19: 41,709,477 (GRCm39)		probably null	Het
Spata31d1e	T	C	13: 59,890,320 (GRCm39)	Y82C	probably damaging	Het
Spta1	A	G	1: 174,023,513 (GRCm39)	K640R	probably benign	Het
Svil	A	G	18: 5,062,373 (GRCm39)	T898A	probably damaging	Het
Timm44	A	G	8: 4,310,510 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,447,650 (GRCm39)	S127P	probably benign	Het
Vmn2r23	T	A	6: 123,706,649 (GRCm39)	V493D	possibly damaging	Het
Yeats2	T	C	16: 19,989,988 (GRCm39)	V288A	probably damaging	Het
Zfhx4	C	T	3: 5,466,558 (GRCm39)	R2239W	probably damaging	Het
Zscan2	A	C	7: 80,525,301 (GRCm39)	K341Q	probably damaging	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
R1687:Hspa5	UTSW	2	34,665,836 (GRCm39)	missense	probably benign	0.00
R1741:Hspa5	UTSW	2	34,662,704 (GRCm39)	missense	possibly damaging	0.91
R1833:Hspa5	UTSW	2	34,666,065 (GRCm39)	nonsense	probably null
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'- ATTTGATCTGACTGGAATTCCTCC -3'
(R):5'- TTCAATGTCCGCATCCTGGTG -3'

Sequencing Primer
(F):5'- CGTGGAGTTCCCCAGATTGAAG -3'
(R):5'- CGCATCCTGGTGGCTTTC -3'

Posted On

2014-06-23