Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Hsph1'

576729

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

045514-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149537752-149559841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149542485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 678 (Y678H)

Ref Sequence

ENSEMBL: ENSMUSP00000144654 (fasta)

Gene Model

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

AlphaFold

Q61699

Predicted Effect

probably damaging
Transcript: ENSMUST00000074846
AA Change: Y634H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074392
Gene: ENSMUSG00000029657
AA Change: Y634H

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: ENSMUST00000201452
AA Change: Y678H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144654
Gene: ENSMUSG00000029657
AA Change: Y678H

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: ENSMUST00000202089
AA Change: Y637H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144297
Gene: ENSMUSG00000029657
AA Change: Y637H

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: Y678H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144413
Gene: ENSMUSG00000029657
AA Change: Y678H

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (88/88)

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
Abcc4	T	C	14: 118,853,858 (GRCm39)	S425G	probably benign	Het
Adam29	A	G	8: 56,324,609 (GRCm39)	I615T	probably damaging	Het
Arap2	A	T	5: 62,906,818 (GRCm39)	I67N	probably damaging	Het
Asxl2	C	T	12: 3,477,108 (GRCm39)		probably benign	Het
Atp13a4	C	T	16: 29,260,014 (GRCm39)	G607D		Het
Atp2c2	G	A	8: 120,474,936 (GRCm39)	V514M	probably damaging	Het
Baiap3	A	G	17: 25,468,082 (GRCm39)	C311R	possibly damaging	Het
Becn1	A	C	11: 101,185,052 (GRCm39)	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
C8a	T	C	4: 104,718,626 (GRCm39)	K110E	probably damaging	Het
Camta2	A	G	11: 70,574,714 (GRCm39)		probably null	Het
Capn8	T	A	1: 182,426,240 (GRCm39)	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,508,512 (GRCm39)	Q579*	probably null	Het
Cenpa	G	T	5: 30,824,292 (GRCm39)		probably benign	Het
Cltc	A	G	11: 86,616,054 (GRCm39)	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,802,710 (GRCm39)	L261Q	probably benign	Het
Daw1	T	A	1: 83,170,436 (GRCm39)	S249R	probably benign	Het
Dchs1	T	A	7: 105,404,155 (GRCm39)	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,673,222 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,347,098 (GRCm39)	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,599,685 (GRCm39)	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,493,338 (GRCm39)	I118T	probably damaging	Het
Fam83h	A	G	15: 75,876,275 (GRCm39)	F354S	possibly damaging	Het
Fat3	A	G	9: 15,899,778 (GRCm39)	V3085A	probably benign	Het
Fer	A	G	17: 64,440,516 (GRCm39)	D711G	possibly damaging	Het
G6pc1	G	T	11: 101,267,503 (GRCm39)	V318F	probably benign	Het
Gal3st1	C	A	11: 3,948,227 (GRCm39)	H145N	probably benign	Het
Helz	C	T	11: 107,552,856 (GRCm39)	P1211S	probably damaging	Het
Herc1	A	G	9: 66,302,038 (GRCm39)	I667V	probably benign	Het
Herc2	T	A	7: 55,753,466 (GRCm39)		probably null	Het
Hivep1	C	T	13: 42,308,387 (GRCm39)	T209I	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,728,095 (GRCm39)	D109G	probably damaging	Het
Itgb3	T	C	11: 104,534,403 (GRCm39)	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,027,985 (GRCm39)	N353K	probably damaging	Het
Kif21a	A	G	15: 90,877,999 (GRCm39)	F270L	probably benign	Het
Kit	T	A	5: 75,799,660 (GRCm39)	V464D	probably benign	Het
Klhl36	G	A	8: 120,596,914 (GRCm39)	W205*	probably null	Het
Krt17	A	G	11: 100,149,291 (GRCm39)	Y260H	probably damaging	Het
Lats1	C	T	10: 7,588,706 (GRCm39)	Q1108*	probably null	Het
Lrch1	G	A	14: 74,994,477 (GRCm39)	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,689,053 (GRCm39)	Q66K	probably benign	Het
Mei1	G	A	15: 81,999,682 (GRCm39)	A664T		Het
Mtmr6	C	T	14: 60,537,753 (GRCm39)	T546M	probably benign	Het
Ncoa3	T	A	2: 165,910,449 (GRCm39)	F1288L	probably damaging	Het
Nwd1	G	T	8: 73,434,458 (GRCm39)	V1352L	probably benign	Het
Or4k77	T	A	2: 111,199,707 (GRCm39)	H243Q	probably damaging	Het
Or5ac17	A	T	16: 59,036,761 (GRCm39)	C72S	probably benign	Het
Ovol3	C	T	7: 29,934,646 (GRCm39)		probably null	Het
Palb2	C	A	7: 121,716,554 (GRCm39)	V843L	probably damaging	Het
Pds5a	T	A	5: 65,809,878 (GRCm39)		probably null	Het
Per1	A	G	11: 68,995,561 (GRCm39)	S714G	possibly damaging	Het
Plch2	G	A	4: 155,084,917 (GRCm39)	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080 (GRCm39)	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378 (GRCm39)	N834Y	probably damaging	Het
Pramel22	T	C	4: 143,382,130 (GRCm39)	I189V	probably damaging	Het
Rbm46	C	T	3: 82,749,795 (GRCm39)	W483*	probably null	Het
Rnd1	A	T	15: 98,571,782 (GRCm39)	V88E	probably damaging	Het
Sbno2	T	A	10: 79,905,409 (GRCm39)	T142S	unknown	Het
Scn9a	C	T	2: 66,377,531 (GRCm39)	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,529,018 (GRCm39)	H266L	possibly damaging	Het
Setd5	T	A	6: 113,092,043 (GRCm39)	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,845,799 (GRCm39)	N66Y	probably damaging	Het
Sinhcaf	A	G	6: 148,834,600 (GRCm39)	Y10H	probably benign	Het
Skint6	T	A	4: 113,095,425 (GRCm39)	N78I	probably damaging	Het
Sltm	G	T	9: 70,480,748 (GRCm39)	G200V	unknown	Het
Smg1	A	G	7: 117,795,116 (GRCm39)	I477T	unknown	Het
Supv3l1	C	T	10: 62,266,249 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,062,337 (GRCm39)	R4220G	probably benign	Het
Tbr1	A	T	2: 61,635,161 (GRCm39)	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Tmem231	G	T	8: 112,645,040 (GRCm39)	S155R	probably damaging	Het
Trem3	A	G	17: 48,565,498 (GRCm39)	*184W	probably null	Het
Trim33	T	A	3: 103,253,956 (GRCm39)		probably benign	Het
Tsen2	G	A	6: 115,536,943 (GRCm39)	W233*	probably null	Het
Ttc21a	T	A	9: 119,774,605 (GRCm39)	N286K	probably damaging	Het
Tulp4	A	T	17: 6,248,983 (GRCm39)	M194L	probably benign	Het
Ube3b	C	A	5: 114,553,345 (GRCm39)	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,556,687 (GRCm39)	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,288,705 (GRCm39)		probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zan	T	G	5: 137,423,824 (GRCm39)	I2692L	unknown	Het
Zfp142	C	A	1: 74,624,679 (GRCm39)	E48D	probably benign	Het
Zfp598	T	C	17: 24,896,504 (GRCm39)	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,897,064 (GRCm39)	N336S	probably benign	Het
Zfyve27	A	T	19: 42,177,959 (GRCm39)		probably null	Het
Zp3	T	C	5: 136,011,559 (GRCm39)	S126P	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
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
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'- ATCTGACTTTAACAGGAGTGCCC -3'
(R):5'- GACCATGATCCCAGTGTCTG -3'

Sequencing Primer
(F):5'- GACTTTAACAGGAGTGCCCATTTTC -3'
(R):5'- ACCATGATCCCAGTGTCTGTAGTG -3'

Posted On

2019-10-07