Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4548:Hspa1b'

512133

Institutional Source

Beutler Lab

Gene Symbol

Hspa1b

Ensembl Gene

ENSMUSG00000090877

Gene Name

heat shock protein 1B

Synonyms

Hsp70-1, hsp68, HSP70A1, Hsp70, Hsp70.1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

FR4548 ()

Quality Score

122.458

Status

Not validated

Chromosome

Chromosomal Location

34956436-34959238 bp(-) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GCGCC to GC at 34957129 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172753]

AlphaFold

P17879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172531

Predicted Effect

probably benign
Transcript: ENSMUST00000172753

SMART Domains

Protein: ENSMUSP00000133815
Gene: ENSMUSG00000090877

Domain	Start	End	E-Value	Type
Pfam:HSP70	6	612	1.3e-268	PFAM
low complexity region	613	631	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174777

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.3%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to focal cerebral ischemic injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Het
1700001K19Rik	CTT	CTTTTT	12: 110,668,452		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4932415D10Rik	G	GTCATTA	10: 82,290,996		probably benign	Homo
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
Ahdc1	TCC	TCCCCC	4: 133,062,757		probably benign	Homo
Ahdc1	T	TCCC	4: 133,062,760		probably benign	Homo
AI837181	CGG	CGGGGG	19: 5,425,231		probably benign	Het
AI837181	CG	CGGGG	19: 5,425,237		probably benign	Het
Anxa2	CCC	CCCTCC	9: 69,480,203		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGACAATAAAG	18: 34,281,998		probably benign	Het
Apol6	T	TGTTA	15: 77,051,445		probably null	Homo
BC051142	GCA	GCATCA	17: 34,460,065		probably benign	Het
Blm	CTAC	CTACTTAC	7: 80,463,769		probably null	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Bud31	C	T	5: 145,146,535	R63C	probably benign	Het
C4b	C	T	17: 34,740,997	R335H	probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,717		probably benign	Het
Cacna1f	AGG	AGGGGG	X: 7,620,058		probably benign	Het
Ccdc170	ACC	ACCCCC	10: 4,561,026		probably benign	Het
Cckbr	GGGC	G	7: 105,434,681		probably benign	Homo
Cd3eap	GGATG	GG	7: 19,357,244		probably benign	Homo
Cd80	GAAA	GAAAAAA	16: 38,486,319		probably benign	Homo
Ces1b	T	C	8: 93,068,092	N293S	probably null	Homo
Cgnl1	CGC	CGCGGC	9: 71,724,717		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,579		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cntnap1	GCC	GCCCCAACC	11: 101,189,594		probably benign	Het
Ctsm	GTGA	GTGAATGA	13: 61,537,837		probably null	Homo
Cttnbp2	TGCTGC	TGCTGCCGCTGC	6: 18,367,463		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,583,673		probably null	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Efna4	ATGTGAT	A	3: 89,334,422		probably benign	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	TTC	TTCATC	2: 58,048,075		probably benign	Het
Ermn	TC	TCTCC	2: 58,048,088		probably benign	Het
Fbxo43	GTGCCT	GTGCCTATGCCT	15: 36,152,098		probably null	Het
Fscb	A	G	12: 64,472,563	S710P	unknown	Het
Fscb	T	A	12: 64,472,565	Q709L	unknown	Het
Glod4	A	C	11: 76,243,310		probably benign	Homo
Gm14401	A	G	2: 177,086,868	D249G	probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,196,070		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,073		probably benign	Het
Gm8104	C	T	14: 43,110,009	T178I	probably benign	Het
Gm8104	T	C	14: 43,110,011	S179P	probably damaging	Het
Gpatch11	GGAAGA	GGAAGACGAAGA	17: 78,842,175		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Ifi211	G	A	1: 173,906,193	A134V	possibly damaging	Het
Igf1r	C	CTGGAGATGGAGG	7: 68,226,186		probably benign	Het
Igkv9-129	G	A	6: 67,840,034	V41I	probably damaging	Het
Ipo9	TCC	TCCCCC	1: 135,386,275		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Klra2	AG	AGAAATCCACGG	6: 131,221,851		probably null	Het
Kmt2b	CTCC	CTCCTCGTCC	7: 30,586,380		probably benign	Het
Kng2	G	A	16: 23,000,552	Q245*	probably null	Het
Kri1	CTCCTCTTCCTC	CTCCTC	9: 21,281,050		probably benign	Het
Krt10	TCCTCC	TCCTCCCCCTCC	11: 99,389,273		probably benign	Het
Krt10	TCCTCCAC	TCCTCCACCTCCAC	11: 99,389,276		probably benign	Homo
Las1l	TC	TCTTCCGC	X: 95,940,625		probably benign	Het
Las1l	GAG	GAGAAG	X: 95,940,823		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,813		probably benign	Het
Lrit3	GCT	GCTACT	3: 129,788,816		probably benign	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Luzp1	CTCTTCAGA	CTCTTCAGAGGTGGCATCTTCAGA	4: 136,543,188		probably benign	Homo
Mast4	CA	CAGTGGGA	13: 102,736,318		probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Mn1	GCA	GCACCA	5: 111,419,698		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCCGGCAGTGAG	19: 42,076,109		probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TATACTT	TATACTTTTTAAATACTT	4: 62,149,345		probably benign	Het
Mup21	ATACTT	ATACTTTTTATCTACTT	4: 62,149,346		probably benign	Het
Nacad	AGGGTC	AGGGTCGGGGTC	11: 6,599,752		probably benign	Het
Nacad	GG	GGCCAGTG	11: 6,599,760		probably benign	Het
Ncapd2	CTT	CTTGGTT	6: 125,173,596		probably benign	Homo
Nelfe	GACCGGGATCGAGACAGAGAC	GACCGGGATCGAGACAGAGACAAAGACCGGGATCGAGACAGAGAC	17: 34,854,070		probably benign	Homo
Nfxl1	CCGGGG	CCGGGGTCGGGG	5: 72,559,115		probably benign	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	GC	GCTTC	4: 156,240,100		probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	TTG	TTGACACTG	14: 38,397,271		probably benign	Homo
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr318	T	G	11: 58,720,371	I226L	probably benign	Het
Olfr585	T	TTAG	7: 103,098,309		probably null	Homo
Olfr624	CAAA	CAAAAAA	7: 103,670,960		probably benign	Homo
Olfr624	G	GAAC	7: 103,670,967		probably null	Homo
Osmr	CTC	CTCTTC	15: 6,837,703		probably benign	Homo
Patl2	GCT	GCTCCT	2: 122,126,135		probably benign	Het
Pdik1l	ACCAC	ACCACCGCCAC	4: 134,279,512		probably benign	Homo
Phldb3	GACCC	G	7: 24,628,978		probably null	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,819,680		probably benign	Homo
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Prag1	GC	GCAAC	8: 36,103,885		probably benign	Homo
Prr13	TCC	TCCGCC	15: 102,462,174		probably benign	Het
Prtg	GTAAC	G	9: 72,857,081		probably benign	Homo
Ptk2b	C	T	14: 66,173,849	R411Q	possibly damaging	Het
Ptms	TTC	TTCGTC	6: 124,914,456		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Rbm33	AGCAGCCGCAGC	AGCAGC	5: 28,394,201		probably benign	Het
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TGGTAGTGG	TGGTAGTGGCGGTAGTGG	7: 127,785,313		probably benign	Homo
Sfswap	CCACTCAGC	CCACTCAGCGCACTCAGC	5: 129,569,749		probably benign	Het
Sfswap	AGCCCACTCGGCC	AGCCCACTCGGCCCACTCGGCC	5: 129,569,755		probably benign	Homo
Sh3pxd2b	GT	GTGTCTCT	11: 32,423,064		probably benign	Homo
Sh3pxd2b	T	TGTCTTG	11: 32,423,065		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GGC	GGCCGC	17: 85,621,363		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACCCC	2: 125,154,214		probably benign	Homo
Spaca1	GC	GCTCTCTC	4: 34,049,856		probably benign	Het
Spag17	AGG	AGGCGG	3: 100,056,254		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,657		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,664		probably benign	Het
Supt20	CA	CAGCAGAA	3: 54,727,673		probably benign	Het
Syne1	C	A	10: 5,032,969	S8652I	probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,455		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,469		probably benign	Het
Tomm5	CTTCCGC	CTTCCGCATTTTCCGC	4: 45,107,977		probably benign	Het
Trav15-2-dv6-2	G	GAAA	14: 53,649,757		probably benign	Het
Triobp	TCG	TCGGCG	15: 78,993,387		probably benign	Het
Triobp	TCG	TCGCCG	15: 78,993,390		probably benign	Homo
Tsen2	GAG	GAGAAG	6: 115,560,068		probably benign	Het
Ttf2	TC	TCCGC	3: 100,963,160		probably benign	Homo
Tusc1	CGCCAC	CGCCACTGCCAC	4: 93,335,303		probably benign	Het
Ubtf	CTC	CTCATC	11: 102,306,958		probably benign	Het
Utrn	T	TTCCTGTC	10: 12,633,941		probably benign	Homo
Vars	TGG	TGGAGTCCTGGGGGG	17: 35,015,989		probably benign	Homo
Vars	G	GAGTCCTGGGTGC	17: 35,015,991		probably benign	Het
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Zc3h13	TGCG	TGCGTGATGAGCG	14: 75,323,599		probably benign	Het
Zdhhc16	CACA	CACAACAGGGAAAGCAGTCTGTCAACA	19: 41,942,168		probably null	Het
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	TCC	TCCCCC	2: 164,907,472		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,776		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het
Zfp986	G	T	4: 145,899,358	R196I	probably benign	Het
Zfp992	G	T	4: 146,466,007	E62*	probably null	Het

Other mutations in Hspa1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01564:Hspa1b	APN	17	34957549	missense	probably benign	0.31
FR4737:Hspa1b	UTSW	17	34957129	small deletion	probably benign
R0271:Hspa1b	UTSW	17	34958832	missense	probably benign	0.02
R0843:Hspa1b	UTSW	17	34957548	missense	possibly damaging	0.88
R2679:Hspa1b	UTSW	17	34957303	missense	probably benign	0.09
R5007:Hspa1b	UTSW	17	34958110	missense	probably benign	0.08
R5121:Hspa1b	UTSW	17	34958004	missense	possibly damaging	0.89
R5261:Hspa1b	UTSW	17	34959007	start codon destroyed	probably null
R6076:Hspa1b	UTSW	17	34957497	missense	probably damaging	1.00
R6523:Hspa1b	UTSW	17	34957191	missense	probably benign	0.42
R6823:Hspa1b	UTSW	17	34958185	missense	probably benign	0.02
R7536:Hspa1b	UTSW	17	34958875	missense	possibly damaging	0.51
R7898:Hspa1b	UTSW	17	34958191	missense	probably benign	0.38
R8186:Hspa1b	UTSW	17	34957581	missense	probably damaging	1.00
R8691:Hspa1b	UTSW	17	34957096	missense	possibly damaging	0.79
R9380:Hspa1b	UTSW	17	34958194	missense	probably damaging	1.00
R9677:Hspa1b	UTSW	17	34958884	missense	probably benign	0.02
R9719:Hspa1b	UTSW	17	34957491	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTGCTCCCAACATTAC -3'
(R):5'- TCAACATGAAGAGCGCCGTG -3'

Sequencing Primer
(F):5'- ACGCAATTACCTTAAGAAAGACTG -3'
(R):5'- TCTCAAGGGCAAGCTCAGC -3'

Posted On

2018-04-05