Mutagenetix > Incidental Mutation

Incidental Mutation 'R7502:Hsph1'

581542

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

MMRRC Submission

045575-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

149537752-149559841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 149553838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 210 (V210G)

Ref Sequence

ENSEMBL: ENSMUSP00000144654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074846] [ENSMUST00000200805] [ENSMUST00000200825] [ENSMUST00000201452] [ENSMUST00000201559] [ENSMUST00000202089] [ENSMUST00000202361]

AlphaFold

Q61699

Predicted Effect

probably damaging
Transcript: ENSMUST00000074846
AA Change: V210G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: V210G

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: ENSMUST00000200805

SMART Domains

Protein: ENSMUSP00000143925
Gene: ENSMUSG00000029657

Domain	Start	End	E-Value	Type
Pfam:HSP70	1	94	5.2e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200825

SMART Domains

Protein: ENSMUSP00000143913
Gene: ENSMUSG00000029657

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	100	1.4e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201452
AA Change: V210G

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

SMART Domains

Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: V210G

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 damaging
Transcript: ENSMUST00000201559
AA Change: V117G

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

SMART Domains

Protein: ENSMUSP00000144043
Gene: ENSMUSG00000029657
AA Change: V117G

Domain	Start	End	E-Value	Type
Pfam:HSP70	1	144	2.1e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000202089
AA Change: V169G

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

SMART Domains

Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: V169G

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

probably damaging
Transcript: ENSMUST00000202361
AA Change: V210G

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

SMART Domains

Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: V210G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,743,951 (GRCm39)	T661A	probably damaging	Het
Actrt2	T	C	4: 154,751,383 (GRCm39)	Y251C	probably benign	Het
Adat3	T	A	10: 80,442,255 (GRCm39)	V31D	probably damaging	Het
Adgrf4	T	C	17: 42,980,548 (GRCm39)	H179R	possibly damaging	Het
Ahcyl1	A	T	3: 107,578,513 (GRCm39)	Y241*	probably null	Het
Anks1	C	A	17: 28,227,114 (GRCm39)	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Cacna1e	A	T	1: 154,344,734 (GRCm39)	M1130K	probably null	Het
Ccdc121rt1	G	A	1: 181,338,443 (GRCm39)	Q170*	probably null	Het
Ceacam18	A	T	7: 43,286,298 (GRCm39)	D57V	probably damaging	Het
Celf1	C	T	2: 90,835,100 (GRCm39)	Q194*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cep170	T	C	1: 176,583,595 (GRCm39)	D163G	probably damaging	Het
Cfap210	A	T	2: 69,606,488 (GRCm39)	D309E	probably benign	Het
Cftr	T	C	6: 18,214,295 (GRCm39)	F157S	probably damaging	Het
Chchd3	T	C	6: 32,945,164 (GRCm39)	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,460,963 (GRCm39)	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,753,075 (GRCm39)	V2266I	probably benign	Het
Ctr9	A	G	7: 110,633,133 (GRCm39)	D127G	probably benign	Het
Ctsl	A	T	13: 64,514,882 (GRCm39)	F141I	probably damaging	Het
Dcpp1	T	A	17: 24,101,615 (GRCm39)	Y121*	probably null	Het
Ddx42	T	C	11: 106,138,565 (GRCm39)	V788A	probably benign	Het
Ehd4	T	C	2: 119,921,874 (GRCm39)	I461V	probably benign	Het
Elp6	C	A	9: 110,134,376 (GRCm39)	L5I	possibly damaging	Het
Faap20	T	C	4: 155,334,793 (GRCm39)	S2P		Het
Fam98b	A	C	2: 117,094,344 (GRCm39)	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655 (GRCm39)	D30E	probably benign	Het
Fcrlb	T	C	1: 170,736,210 (GRCm39)	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,043,671 (GRCm39)	D302G	probably benign	Het
Gzmg	T	G	14: 56,394,284 (GRCm39)	E203D	not run	Het
Il20rb	A	T	9: 100,350,479 (GRCm39)	M138K	probably damaging	Het
Itpr1	A	T	6: 108,360,639 (GRCm39)	E688D	probably benign	Het
Jmjd1c	T	G	10: 67,067,794 (GRCm39)	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,780,062 (GRCm39)	T371S	possibly damaging	Het
Kif11	T	A	19: 37,398,255 (GRCm39)	S694T	possibly damaging	Het
Kpna7	T	A	5: 144,942,731 (GRCm39)	H85L	probably benign	Het
Lipf	A	T	19: 33,954,006 (GRCm39)	I366F	probably damaging	Het
Lrrc27	A	G	7: 138,794,748 (GRCm39)	H37R	probably benign	Het
Mki67	T	C	7: 135,302,512 (GRCm39)	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,820,210 (GRCm39)	S120P	probably damaging	Het
Nav1	A	G	1: 135,397,404 (GRCm39)	W922R	probably damaging	Het
Nwd1	A	G	8: 73,434,021 (GRCm39)	E1206G	probably damaging	Het
Obscn	T	C	11: 58,885,635 (GRCm39)	S7933G	unknown	Het
Or13j1	T	C	4: 43,706,316 (GRCm39)	H84R	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,010 (GRCm39)	V53A	probably benign	Het
Or2g25	T	A	17: 37,971,122 (GRCm39)	Y34F	probably damaging	Het
Or2k2	T	C	4: 58,785,648 (GRCm39)	I25V	probably benign	Het
Or4c52	T	C	2: 89,845,355 (GRCm39)	L27S	probably benign	Het
Otog	A	T	7: 45,948,039 (GRCm39)	I162F	probably damaging	Het
Paf1	G	A	7: 28,095,293 (GRCm39)	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,889,554 (GRCm39)	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitrm1	G	T	13: 6,610,658 (GRCm39)	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,004,819 (GRCm39)		probably null	Het
Plaat1	T	C	16: 29,046,919 (GRCm39)	V146A	probably benign	Het
Prorp	T	C	12: 55,351,206 (GRCm39)	Y172H	probably damaging	Het
Prrc2a	T	C	17: 35,381,286 (GRCm39)	N61S	unknown	Het
Ror1	T	A	4: 100,190,827 (GRCm39)	D61E	probably benign	Het
Ryr3	G	A	2: 112,542,706 (GRCm39)	P3168S	probably benign	Het
Serinc4	T	A	2: 121,284,250 (GRCm39)	I289F	probably damaging	Het
Sez6l	A	T	5: 112,623,347 (GRCm39)	L68H	possibly damaging	Het
Sez6l2	A	G	7: 126,560,915 (GRCm39)	E460G	probably benign	Het
Sh3tc1	C	T	5: 35,863,406 (GRCm39)	G927D	probably damaging	Het
Slc22a27	G	C	19: 7,903,747 (GRCm39)	T130S	probably damaging	Het
Slc38a8	C	A	8: 120,227,820 (GRCm39)	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,958,134 (GRCm39)	N100D	probably damaging	Het
Slc49a3	G	A	5: 108,591,646 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,894,567 (GRCm39)	F382L	possibly damaging	Het
Sox1	A	G	8: 12,446,913 (GRCm39)	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,991,385 (GRCm39)	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,798,110 (GRCm39)	V1945A	probably benign	Het
St18	T	A	1: 6,898,194 (GRCm39)	N665K	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Syne2	G	A	12: 76,141,100 (GRCm39)	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,393,639 (GRCm39)	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,769,398 (GRCm39)	D71V	probably damaging	Het
Tnn	T	C	1: 159,937,929 (GRCm39)	D1196G	probably benign	Het
Ttll8	A	G	15: 88,817,639 (GRCm39)		probably null	Het
Tubgcp3	A	G	8: 12,691,207 (GRCm39)	F444L	probably damaging	Het
Txndc11	G	A	16: 10,905,742 (GRCm39)	P596L	probably benign	Het
Ubr4	C	T	4: 139,139,983 (GRCm39)	P1189S	possibly damaging	Het
Usp32	T	C	11: 84,913,724 (GRCm39)	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,686,188 (GRCm39)	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,421,761 (GRCm39)	M132I	probably benign	Het
Wnk2	A	T	13: 49,300,720 (GRCm39)		probably null	Het
Xbp1	A	G	11: 5,474,683 (GRCm39)		probably null	Het
Zfp551	A	T	7: 12,149,725 (GRCm39)	Y561*	probably null	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
R4577:Hsph1	UTSW	5	149,542,308 (GRCm39)	missense	probably benign	0.03
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
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'- GAGCAGGTTATCTTCCATCACG -3'
(R):5'- CTTGAGAAATGCAAGGGTCTTCC -3'

Sequencing Primer
(F):5'- CATCACGTTTTAATGAGAATCTTGGC -3'
(R):5'- AGGGTCTTCCTGTGACACGAAATTC -3'

Posted On

2019-10-17