Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Hspa4'

288828

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa4

Ensembl Gene

ENSMUSG00000020361

Gene Name

heat shock protein 4

Synonyms

70kDa, APG-2, Hsp70RY, Hsp110

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

53150641-53191284 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53153200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 739 (S739N)

Ref Sequence

ENSEMBL: ENSMUSP00000020630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020630]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020630
AA Change: S739N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020630
Gene: ENSMUSG00000020361
AA Change: S739N

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	608	2.9e-211	PFAM
Pfam:HSP70	590	693	3.8e-10	PFAM
low complexity region	787	800	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151854

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit age-dependent neurofibrillary tangles and tau deposits, impaired contextual conditioning, and impaired bar grasping. [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
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Adrb2	T	C	18: 62,312,078 (GRCm39)	E249G	probably benign	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Ighv1-42	T	A	12: 114,900,885 (GRCm39)	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Parn	T	A	16: 13,384,567 (GRCm39)	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tbr1	C	A	2: 61,635,336 (GRCm39)	H95Q	possibly damaging	Het
Tcf19	A	T	17: 35,825,380 (GRCm39)		probably null	Het
Timm44	T	A	8: 4,317,692 (GRCm39)	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly damaging	Het

Other mutations in Hspa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Hspa4	APN	11	53,171,544 (GRCm39)	splice site	probably null
IGL00701:Hspa4	APN	11	53,161,860 (GRCm39)	missense	possibly damaging	0.89
IGL00957:Hspa4	APN	11	53,171,514 (GRCm39)	missense	probably benign	0.00
IGL02324:Hspa4	APN	11	53,190,885 (GRCm39)	critical splice donor site	probably null
IGL02328:Hspa4	APN	11	53,190,885 (GRCm39)	critical splice donor site	probably null
IGL02441:Hspa4	APN	11	53,161,809 (GRCm39)	missense	probably benign	0.03
IGL03323:Hspa4	APN	11	53,155,960 (GRCm39)	missense	probably benign	0.05
IGL03356:Hspa4	APN	11	53,160,627 (GRCm39)	missense	probably damaging	1.00
R0027:Hspa4	UTSW	11	53,174,412 (GRCm39)	missense	probably benign	0.00
R0398:Hspa4	UTSW	11	53,163,706 (GRCm39)	critical splice acceptor site	probably null
R0568:Hspa4	UTSW	11	53,153,703 (GRCm39)	splice site	probably benign
R0655:Hspa4	UTSW	11	53,160,519 (GRCm39)	missense	probably benign	0.02
R1876:Hspa4	UTSW	11	53,174,983 (GRCm39)	missense	probably benign	0.16
R2225:Hspa4	UTSW	11	53,177,760 (GRCm39)	missense	probably benign	0.28
R3813:Hspa4	UTSW	11	53,161,806 (GRCm39)	missense	probably benign	0.21
R3937:Hspa4	UTSW	11	53,161,776 (GRCm39)	missense	probably benign	0.13
R4360:Hspa4	UTSW	11	53,155,919 (GRCm39)	missense	probably damaging	1.00
R4457:Hspa4	UTSW	11	53,171,395 (GRCm39)	missense	probably damaging	1.00
R4492:Hspa4	UTSW	11	53,171,296 (GRCm39)	missense	probably damaging	1.00
R4751:Hspa4	UTSW	11	53,175,026 (GRCm39)	missense	probably benign	0.22
R5032:Hspa4	UTSW	11	53,179,950 (GRCm39)	missense	possibly damaging	0.89
R5233:Hspa4	UTSW	11	53,177,802 (GRCm39)	missense	possibly damaging	0.46
R5320:Hspa4	UTSW	11	53,153,810 (GRCm39)	missense	probably damaging	1.00
R5650:Hspa4	UTSW	11	53,155,919 (GRCm39)	missense	probably damaging	1.00
R6108:Hspa4	UTSW	11	53,152,539 (GRCm39)	missense	probably damaging	0.97
R6211:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6232:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6234:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6235:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6243:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6245:Hspa4	UTSW	11	53,153,766 (GRCm39)	missense	probably benign	0.06
R6468:Hspa4	UTSW	11	53,155,883 (GRCm39)	missense	probably benign	0.03
R7194:Hspa4	UTSW	11	53,156,765 (GRCm39)	missense	probably damaging	1.00
R7308:Hspa4	UTSW	11	53,157,930 (GRCm39)	missense	possibly damaging	0.70
R7654:Hspa4	UTSW	11	53,190,951 (GRCm39)	missense	probably damaging	0.98
R7731:Hspa4	UTSW	11	53,157,791 (GRCm39)	critical splice donor site	probably null
R7813:Hspa4	UTSW	11	53,162,863 (GRCm39)	missense	probably damaging	1.00
R7841:Hspa4	UTSW	11	53,157,887 (GRCm39)	missense	possibly damaging	0.95
R7849:Hspa4	UTSW	11	53,171,530 (GRCm39)	missense	possibly damaging	0.88
R7913:Hspa4	UTSW	11	53,153,134 (GRCm39)	missense	probably benign	0.01
R7980:Hspa4	UTSW	11	53,171,404 (GRCm39)	missense	probably benign	0.22
R8679:Hspa4	UTSW	11	53,160,691 (GRCm39)	missense	probably damaging	0.98
R9012:Hspa4	UTSW	11	53,159,402 (GRCm39)	missense	probably benign	0.14
R9129:Hspa4	UTSW	11	53,174,463 (GRCm39)	nonsense	probably null
R9230:Hspa4	UTSW	11	53,171,466 (GRCm39)	missense	probably benign	0.22
R9631:Hspa4	UTSW	11	53,160,582 (GRCm39)	missense	possibly damaging	0.68

Posted On

2015-04-16