Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01959:Hspa1l'

182329

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa1l

Ensembl Gene

ENSMUSG00000007033

Gene Name

heat shock protein 1-like

Synonyms

70kDa, Msh5, Hsc70t

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

IGL01959

Quality Score

Status

Chromosome

Chromosomal Location

34972703-34979285 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34977135 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 50 (E50G)

Ref Sequence

ENSEMBL: ENSMUSP00000007248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007248] [ENSMUST00000007266] [ENSMUST00000087328] [ENSMUST00000114011] [ENSMUST00000173680]

Predicted Effect

probably damaging
Transcript: ENSMUST00000007248
AA Change: E50G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
AA Change: E50G

Domain	Start	End	E-Value	Type
Pfam:HSP70	8	614	6.5e-269	PFAM
low complexity region	616	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000007266

SMART Domains

Protein: ENSMUSP00000007266
Gene: ENSMUSG00000007050

Domain	Start	End	E-Value	Type
Sm	41	108	8.91e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087328

SMART Domains

Protein: ENSMUSP00000084586
Gene: ENSMUSG00000091971

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	612	1.3e-268	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114011

SMART Domains

Protein: ENSMUSP00000109644
Gene: ENSMUSG00000007050

Domain	Start	End	E-Value	Type
Sm	5	72	8.91e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172523

Predicted Effect

probably benign
Transcript: ENSMUST00000173680

SMART Domains

Protein: ENSMUSP00000133726
Gene: ENSMUSG00000092609

Domain	Start	End	E-Value	Type
low complexity region	8	26	N/A	INTRINSIC
low complexity region	36	57	N/A	INTRINSIC
low complexity region	65	87	N/A	INTRINSIC
internal_repeat_1	91	102	5.9e-5	PROSPERO
internal_repeat_1	113	124	5.9e-5	PROSPERO
low complexity region	134	146	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174326

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	C	11: 51,091,818		noncoding transcript	Het
Aip	A	G	19: 4,121,397	I13T	probably damaging	Het
Cacna2d1	C	T	5: 16,212,897	P140S	probably benign	Het
Cald1	A	G	6: 34,753,468	D40G	probably damaging	Het
Cep250	T	A	2: 155,983,359	V1052E	possibly damaging	Het
Chd1	A	G	17: 15,742,173	N731D	probably damaging	Het
Chml	C	T	1: 175,687,600	V252I	probably benign	Het
Cog8	T	C	8: 107,056,378	Y93C	probably damaging	Het
Creld1	G	A	6: 113,492,833	A399T	probably damaging	Het
Cyp2a4	T	A	7: 26,307,708	V80E	probably damaging	Het
Cyp2c37	T	A	19: 39,995,833	L255*	probably null	Het
Cyp2d12	C	A	15: 82,555,344		probably benign	Het
Dimt1	A	G	13: 106,953,455	I229V	probably benign	Het
Dsc1	G	A	18: 20,097,225	T341I	probably damaging	Het
Ercc3	T	A	18: 32,257,358	F567I	probably damaging	Het
Espl1	C	A	15: 102,305,662		probably benign	Het
Fcrls	T	C	3: 87,259,632	D18G	probably damaging	Het
Fnip1	T	A	11: 54,490,912	S296R	possibly damaging	Het
Fzd5	C	A	1: 64,735,946	A219S	possibly damaging	Het
Gbp7	A	G	3: 142,541,347		probably benign	Het
Gm3298	T	C	14: 5,018,731	L162S	probably damaging	Het
Ipo9	T	C	1: 135,420,355		probably null	Het
Kazn	A	G	4: 142,150,884	L185P	probably damaging	Het
Kcnh8	T	C	17: 52,834,607	S293P	probably damaging	Het
Lrp1b	T	C	2: 41,312,527	T1191A	probably damaging	Het
Mnat1	A	G	12: 73,181,931		probably benign	Het
Msx2	C	T	13: 53,468,602		probably benign	Het
Ndufs2	T	G	1: 171,237,229	I317L	probably benign	Het
Nms	T	C	1: 38,941,925		probably benign	Het
Oosp3	T	A	19: 11,700,922	F87L	probably benign	Het
Pask	A	G	1: 93,334,607	V177A	probably benign	Het
Poldip2	G	T	11: 78,512,307		probably benign	Het
Prr14l	A	T	5: 32,830,205	S649T	possibly damaging	Het
Slc6a18	T	A	13: 73,677,865	N22I	probably damaging	Het
Smco2	T	A	6: 146,861,710	S228T	probably benign	Het
Speer4a	G	A	5: 26,035,904	Q197*	probably null	Het
Speg	A	G	1: 75,391,090	K641R	probably damaging	Het
Strip2	G	A	6: 29,928,554	V286M	probably damaging	Het
Tnfrsf22	C	T	7: 143,643,275		probably null	Het
Tnpo3	A	G	6: 29,589,020		probably benign	Het
Top2b	T	A	14: 16,422,695	N1377K	probably benign	Het
Trmt1	T	A	8: 84,691,376		probably null	Het
Trpm1	A	G	7: 64,208,975	M266V	possibly damaging	Het
Vmn1r199	A	G	13: 22,383,120	T195A	probably benign	Het
Vmn2r10	A	G	5: 108,997,705	V512A	probably benign	Het
Zfp777	A	G	6: 48,044,341	F116L	probably benign	Het
Zp3r	T	A	1: 130,591,451	K253*	probably null	Het

Other mutations in Hspa1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Hspa1l	APN	17	34977465	missense	probably damaging	1.00
IGL01548:Hspa1l	APN	17	34978391	missense	probably damaging	0.98
IGL01860:Hspa1l	APN	17	34978811	missense	probably benign	0.00
IGL02661:Hspa1l	APN	17	34977275	missense	probably benign
R0355:Hspa1l	UTSW	17	34977410	missense	probably benign
R0850:Hspa1l	UTSW	17	34977623	missense	probably benign	0.01
R1675:Hspa1l	UTSW	17	34977443	missense	probably damaging	1.00
R2148:Hspa1l	UTSW	17	34977390	missense	probably damaging	0.98
R2169:Hspa1l	UTSW	17	34977323	missense	probably benign
R2418:Hspa1l	UTSW	17	34977188	missense	probably benign	0.05
R4323:Hspa1l	UTSW	17	34977856	nonsense	probably null
R4924:Hspa1l	UTSW	17	34977856	nonsense	probably null
R4926:Hspa1l	UTSW	17	34978223	missense	possibly damaging	0.92
R5186:Hspa1l	UTSW	17	34978469	missense	probably damaging	0.97
R5653:Hspa1l	UTSW	17	34977420	missense	probably damaging	1.00
R5790:Hspa1l	UTSW	17	34977240	missense	probably benign	0.08
R6086:Hspa1l	UTSW	17	34978155	missense	possibly damaging	0.77
R6237:Hspa1l	UTSW	17	34977452	nonsense	probably null
R7229:Hspa1l	UTSW	17	34977255	missense	probably benign	0.05
Z1176:Hspa1l	UTSW	17	34978492	missense	possibly damaging	0.52
Z1177:Hspa1l	UTSW	17	34978016	missense	probably benign	0.27

Posted On

2014-05-07