Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Hsph1'

342543

Institutional Source

Beutler Lab

Gene Symbol

Hsph1

Ensembl Gene

ENSMUSG00000029657

Gene Name

heat shock 105kDa/110kDa protein 1

Synonyms

HSP110, hsp110/105, hsp-E7I, Hsp105

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149537752-149559841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149542308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 705 (V705A)

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: V661A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: V661A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110498
AA Change: V664A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106124
Gene: ENSMUSG00000029657
AA Change: V664A

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	103	7.1e-33	PFAM
Pfam:HSP70	98	668	1.1e-131	PFAM
low complexity region	715	727	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201431

Predicted Effect

probably benign
Transcript: ENSMUST00000201452
AA Change: V705A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: V705A

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: V664A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: V664A

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: V705A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: V705A

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

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	C	4: 144,430,323 (GRCm39)	I222S	probably damaging	Het
Abca1	C	A	4: 53,062,568 (GRCm39)	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,364,892 (GRCm39)	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,510,090 (GRCm39)	V759A	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,904,444 (GRCm39)	D67G	probably benign	Het
Cacna1e	A	T	1: 154,277,773 (GRCm39)	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,768,220 (GRCm39)	C455Y	probably damaging	Het
Cdh16	T	C	8: 105,345,191 (GRCm39)	D366G	probably damaging	Het
Cep170b	A	G	12: 112,711,152 (GRCm39)	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,372,184 (GRCm39)	R784Q	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Clca4a	C	A	3: 144,660,730 (GRCm39)	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,396 (GRCm39)	Y1195S	probably benign	Het
Dynlt4	A	G	4: 116,985,812 (GRCm39)	T212A	possibly damaging	Het
Dysf	T	C	6: 84,114,308 (GRCm39)	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
F3	A	G	3: 121,527,763 (GRCm39)	I254V	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397 (GRCm39)	F270S	probably damaging	Het
Galnt3	T	C	2: 65,928,203 (GRCm39)	Y231C	probably benign	Het
Gm10220	A	C	5: 26,322,869 (GRCm39)	I181S	probably benign	Het
Gnb5	G	A	9: 75,250,823 (GRCm39)	V316I	possibly damaging	Het
Gys2	A	G	6: 142,400,236 (GRCm39)	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,694,668 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,270,512 (GRCm39)	E206G	unknown	Het
Iqub	A	T	6: 24,501,290 (GRCm39)	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,085,529 (GRCm39)	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,158,063 (GRCm39)	K4R	unknown	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,570,486 (GRCm39)	E655K	probably benign	Het
Lrp1b	C	T	2: 40,711,731 (GRCm39)	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,750,550 (GRCm39)	R934*	probably null	Het
Map4	A	G	9: 109,910,489 (GRCm39)	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,437,199 (GRCm39)	V50I	probably damaging	Het
Med15	G	A	16: 17,492,379 (GRCm39)	Q132*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mtmr3	G	C	11: 4,447,375 (GRCm39)	L361V	probably damaging	Het
Myo5a	A	G	9: 75,124,827 (GRCm39)	E1792G	probably damaging	Het
Nup88	C	A	11: 70,860,543 (GRCm39)	A55S	probably damaging	Het
Or1ab2	T	A	8: 72,864,167 (GRCm39)	Y252*	probably null	Het
Or4a79	T	C	2: 89,552,387 (GRCm39)	K23E	possibly damaging	Het
Pacs1	G	T	19: 5,193,861 (GRCm39)	S556*	probably null	Het
Parp4	A	G	14: 56,827,867 (GRCm39)	E206G	probably benign	Het
Paxbp1	T	G	16: 90,812,042 (GRCm39)	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,802,302 (GRCm39)	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,609,014 (GRCm39)	L292*	probably null	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Plec	C	A	15: 76,068,269 (GRCm39)	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Prss28	T	C	17: 25,529,079 (GRCm39)	V140A	probably damaging	Het
Rad17	A	T	13: 100,769,786 (GRCm39)	S258T	probably damaging	Het
Rnf111	A	T	9: 70,336,866 (GRCm39)	C932*	probably null	Het
Sdc2	T	C	15: 33,017,278 (GRCm39)	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,500,675 (GRCm39)	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,310,451 (GRCm39)	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,286,679 (GRCm39)	E575G	unknown	Het
Slco1a4	A	T	6: 141,765,266 (GRCm39)	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,648,787 (GRCm39)	V156L	possibly damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Speg	A	G	1: 75,392,039 (GRCm39)	D1607G	probably damaging	Het
Tmem101	T	A	11: 102,046,663 (GRCm39)	M69L	possibly damaging	Het
Treh	G	A	9: 44,597,208 (GRCm39)	M542I	probably benign	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,623,441 (GRCm39)	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,320,789 (GRCm39)	T106A	probably damaging	Het
Wdr27	T	C	17: 15,123,724 (GRCm39)	H583R	probably benign	Het
Xirp2	C	T	2: 67,344,241 (GRCm39)	P2161S	probably damaging	Het

Other mutations in Hsph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Hsph1	APN	5	149,542,254 (GRCm39)	missense	possibly damaging	0.95
IGL00839:Hsph1	APN	5	149,541,919 (GRCm39)	missense	possibly damaging	0.47
IGL00965:Hsph1	APN	5	149,554,269 (GRCm39)	missense	probably damaging	1.00
IGL01529:Hsph1	APN	5	149,559,499 (GRCm39)	missense	probably benign	0.01
IGL01613:Hsph1	APN	5	149,550,743 (GRCm39)	missense	probably benign	0.34
IGL02023:Hsph1	APN	5	149,557,324 (GRCm39)	missense	probably damaging	1.00
IGL02272:Hsph1	APN	5	149,540,995 (GRCm39)	missense	probably benign	0.00
IGL02754:Hsph1	APN	5	149,547,057 (GRCm39)	missense	possibly damaging	0.95
R0666:Hsph1	UTSW	5	149,554,967 (GRCm39)	missense	probably damaging	1.00
R1061:Hsph1	UTSW	5	149,541,883 (GRCm39)	missense	possibly damaging	0.93
R1163:Hsph1	UTSW	5	149,554,266 (GRCm39)	missense	probably damaging	1.00
R1511:Hsph1	UTSW	5	149,553,848 (GRCm39)	missense	probably benign	0.03
R1794:Hsph1	UTSW	5	149,554,238 (GRCm39)	missense	probably damaging	1.00
R1806:Hsph1	UTSW	5	149,553,454 (GRCm39)	missense	probably damaging	0.99
R1847:Hsph1	UTSW	5	149,546,950 (GRCm39)	nonsense	probably null
R2143:Hsph1	UTSW	5	149,554,951 (GRCm39)	missense	probably damaging	0.99
R2144:Hsph1	UTSW	5	149,553,802 (GRCm39)	critical splice donor site	probably null
R2917:Hsph1	UTSW	5	149,554,251 (GRCm39)	nonsense	probably null
R3840:Hsph1	UTSW	5	149,544,180 (GRCm39)	splice site	probably null
R3841:Hsph1	UTSW	5	149,544,180 (GRCm39)	splice site	probably null
R4378:Hsph1	UTSW	5	149,559,472 (GRCm39)	nonsense	probably null
R4618:Hsph1	UTSW	5	149,542,308 (GRCm39)	missense	probably benign	0.03
R4621:Hsph1	UTSW	5	149,542,308 (GRCm39)	missense	probably benign	0.03
R5898:Hsph1	UTSW	5	149,548,623 (GRCm39)	missense	probably damaging	1.00
R6114:Hsph1	UTSW	5	149,550,852 (GRCm39)	missense	possibly damaging	0.53
R6185:Hsph1	UTSW	5	149,541,160 (GRCm39)	missense	probably damaging	1.00
R6432:Hsph1	UTSW	5	149,542,441 (GRCm39)	missense	probably damaging	0.99
R6678:Hsph1	UTSW	5	149,541,962 (GRCm39)	missense	probably benign	0.00
R7014:Hsph1	UTSW	5	149,553,865 (GRCm39)	missense	probably damaging	1.00
R7189:Hsph1	UTSW	5	149,553,925 (GRCm39)	missense	probably damaging	1.00
R7438:Hsph1	UTSW	5	149,542,485 (GRCm39)	missense	probably damaging	1.00
R7502:Hsph1	UTSW	5	149,553,838 (GRCm39)	missense	probably damaging	1.00
R7621:Hsph1	UTSW	5	149,555,540 (GRCm39)	missense	probably damaging	0.99
R7625:Hsph1	UTSW	5	149,541,901 (GRCm39)	missense	probably benign	0.00
R8480:Hsph1	UTSW	5	149,551,029 (GRCm39)	missense	probably null	1.00
R8841:Hsph1	UTSW	5	149,550,789 (GRCm39)	missense	probably damaging	0.97
R8858:Hsph1	UTSW	5	149,548,576 (GRCm39)	missense	probably damaging	1.00
R9031:Hsph1	UTSW	5	149,553,270 (GRCm39)	missense	probably damaging	0.99
R9371:Hsph1	UTSW	5	149,543,395 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGACAGTTCCTCACTAAGC -3'
(R):5'- TGAGGCTTCTAACAGAGACGG -3'

Sequencing Primer
(F):5'- GCAACATTTATTCAGCAAGGATCC -3'
(R):5'- CTTCTAACAGAGACGGAAGACTGGC -3'

Posted On

2015-09-24