Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02272:Hsph1'

287216

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hsph1

Ensembl Gene

ENSMUSG00000029657

Gene Name

heat shock 105kDa/110kDa protein 1

Synonyms

Hsp105, hsp-E7I, HSP110

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

149614287-149636376 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149617530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 852 (S852P)

Ref Sequence

ENSEMBL: ENSMUSP00000144413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000201452] [ENSMUST00000202089] [ENSMUST00000202361]

AlphaFold

Q61699

Predicted Effect

probably benign
Transcript: ENSMUST00000074846
AA Change: S808P

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

SMART Domains

Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: S808P

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	709	7.3e-190	PFAM
low complexity region	756	768	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201431

Predicted Effect

probably benign
Transcript: ENSMUST00000201452
AA Change: S852P

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

SMART Domains

Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: S852P

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	709	7.3e-190	PFAM
low complexity region	756	768	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201877

Predicted Effect

probably benign
Transcript: ENSMUST00000202089
AA Change: S811P

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

SMART Domains

Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: S811P

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	103	1.3e-33	PFAM
Pfam:HSP70	98	668	8.5e-135	PFAM
low complexity region	715	727	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202137

Predicted Effect

probably benign
Transcript: ENSMUST00000202361
AA Change: S852P

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

SMART Domains

Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: S852P

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	709	7.3e-190	PFAM
low complexity region	756	768	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene leads to decreased susceptibility to ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Kat6b	A	C	14: 21,626,778	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Usp50	G	A	2: 126,769,944	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	probably benign	Het

Other mutations in Hsph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Hsph1	APN	5	149618789	missense	possibly damaging	0.95
IGL00839:Hsph1	APN	5	149618454	missense	possibly damaging	0.47
IGL00965:Hsph1	APN	5	149630804	missense	probably damaging	1.00
IGL01529:Hsph1	APN	5	149636034	missense	probably benign	0.01
IGL01613:Hsph1	APN	5	149627278	missense	probably benign	0.34
IGL02023:Hsph1	APN	5	149633859	missense	probably damaging	1.00
IGL02754:Hsph1	APN	5	149623592	missense	possibly damaging	0.95
R0666:Hsph1	UTSW	5	149631502	missense	probably damaging	1.00
R1061:Hsph1	UTSW	5	149618418	missense	possibly damaging	0.93
R1163:Hsph1	UTSW	5	149630801	missense	probably damaging	1.00
R1511:Hsph1	UTSW	5	149630383	missense	probably benign	0.03
R1794:Hsph1	UTSW	5	149630773	missense	probably damaging	1.00
R1806:Hsph1	UTSW	5	149629989	missense	probably damaging	0.99
R1847:Hsph1	UTSW	5	149623485	nonsense	probably null
R2143:Hsph1	UTSW	5	149631486	missense	probably damaging	0.99
R2144:Hsph1	UTSW	5	149630337	critical splice donor site	probably null
R2917:Hsph1	UTSW	5	149630786	nonsense	probably null
R3840:Hsph1	UTSW	5	149620715	splice site	probably null
R3841:Hsph1	UTSW	5	149620715	splice site	probably null
R4378:Hsph1	UTSW	5	149636007	nonsense	probably null
R4577:Hsph1	UTSW	5	149618843	missense	probably benign	0.03
R4618:Hsph1	UTSW	5	149618843	missense	probably benign	0.03
R4621:Hsph1	UTSW	5	149618843	missense	probably benign	0.03
R5898:Hsph1	UTSW	5	149625158	missense	probably damaging	1.00
R6114:Hsph1	UTSW	5	149627387	missense	possibly damaging	0.53
R6185:Hsph1	UTSW	5	149617695	missense	probably damaging	1.00
R6432:Hsph1	UTSW	5	149618976	missense	probably damaging	0.99
R6678:Hsph1	UTSW	5	149618497	missense	probably benign	0.00
R7014:Hsph1	UTSW	5	149630400	missense	probably damaging	1.00
R7189:Hsph1	UTSW	5	149630460	missense	probably damaging	1.00
R7438:Hsph1	UTSW	5	149619020	missense	probably damaging	1.00
R7502:Hsph1	UTSW	5	149630373	missense	probably damaging	1.00
R7621:Hsph1	UTSW	5	149632075	missense	probably damaging	0.99
R7625:Hsph1	UTSW	5	149618436	missense	probably benign	0.00
R8480:Hsph1	UTSW	5	149627564	missense	probably null	1.00
R8841:Hsph1	UTSW	5	149627324	missense	probably damaging	0.97
R8858:Hsph1	UTSW	5	149625111	missense	probably damaging	1.00
R9031:Hsph1	UTSW	5	149629805	missense	probably damaging	0.99
R9371:Hsph1	UTSW	5	149619930	missense	probably damaging	1.00

Posted On

2015-04-16