Mutagenetix > Incidental Mutation

Incidental Mutation 'R1099:Hspbap1'

97988

Institutional Source

Beutler Lab

Gene Symbol

Hspbap1

Ensembl Gene

ENSMUSG00000022849

Gene Name

Hspb associated protein 1

Synonyms

3830421G21Rik

MMRRC Submission

039173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35590745-35648847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35645314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 333 (F333C)

Ref Sequence

ENSEMBL: ENSMUSP00000156217 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023555] [ENSMUST00000231579]

AlphaFold

Q8BK58

Predicted Effect

probably benign
Transcript: ENSMUST00000023555

SMART Domains

Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849

Domain	Start	End	E-Value	Type
JmjC	126	288	1.29e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000231579
AA Change: F333C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abca7	G	T	10: 79,849,577 (GRCm39)	E1921*	probably null	Het
Acnat2	G	A	4: 49,380,484 (GRCm39)	T298I	probably benign	Het
Agbl4	T	C	4: 110,812,860 (GRCm39)		probably null	Het
Angpt2	T	A	8: 18,749,149 (GRCm39)	T323S	probably damaging	Het
Ano2	A	G	6: 125,784,810 (GRCm39)	K299R	probably damaging	Het
Armc2	G	T	10: 41,793,183 (GRCm39)	Q814K	probably benign	Het
Atp9b	A	C	18: 80,901,841 (GRCm39)	I263S	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Casp12	T	A	9: 5,352,204 (GRCm39)	H135Q	probably benign	Het
Ccdc180	A	G	4: 45,914,225 (GRCm39)	I621V	probably benign	Het
Cd160	G	A	3: 96,713,156 (GRCm39)	A36V	probably damaging	Het
Ctcfl	A	T	2: 172,954,153 (GRCm39)	C315S	probably damaging	Het
Egflam	A	G	15: 7,281,903 (GRCm39)	V411A	probably benign	Het
Ezh1	T	C	11: 101,084,634 (GRCm39)		probably null	Het
Fam171a1	T	A	2: 3,226,354 (GRCm39)	S371T	probably benign	Het
Ky	G	C	9: 102,414,923 (GRCm39)	W278C	probably damaging	Het
Lrig3	T	A	10: 125,842,883 (GRCm39)		probably null	Het
Map3k6	A	T	4: 132,974,439 (GRCm39)	S580C	probably damaging	Het
Mark2	T	C	19: 7,254,790 (GRCm39)	T219A	probably benign	Het
Mbd5	A	G	2: 49,148,156 (GRCm39)	I789V	probably benign	Het
Myo18a	T	A	11: 77,709,727 (GRCm39)		probably null	Het
Nos1	A	G	5: 118,061,460 (GRCm39)	T929A	probably damaging	Het
Or2a20	T	C	6: 43,194,558 (GRCm39)	F237S	probably damaging	Het
Or2z9	T	A	8: 72,854,503 (GRCm39)	S300T	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Palmd	T	C	3: 116,716,874 (GRCm39)	N541S	possibly damaging	Het
Pdzd2	A	G	15: 12,373,173 (GRCm39)	S2321P	probably damaging	Het
Prdm8	T	G	5: 98,331,361 (GRCm39)	I71S	probably damaging	Het
Prkg1	A	C	19: 30,549,012 (GRCm39)	S654R	probably benign	Het
Psmf1	A	T	2: 151,560,590 (GRCm39)	H260Q	probably damaging	Het
Rp1	A	T	1: 4,422,513 (GRCm39)	I179N	possibly damaging	Het
Rreb1	A	G	13: 38,132,867 (GRCm39)	K1681E	probably benign	Het
Rtn1	A	T	12: 72,351,241 (GRCm39)		probably null	Het
Scaf4	T	A	16: 90,059,986 (GRCm39)	I37F	unknown	Het
Sema4c	A	G	1: 36,591,191 (GRCm39)	S383P	probably damaging	Het
Shc4	G	T	2: 125,564,764 (GRCm39)	D178E	probably benign	Het
Slc2a5	A	G	4: 150,226,636 (GRCm39)	N366S	probably benign	Het
Slc6a3	A	G	13: 73,715,760 (GRCm39)	N465S	probably benign	Het
Tbc1d9b	C	A	11: 50,037,135 (GRCm39)	D261E	probably benign	Het
Tdrd3	A	T	14: 87,724,675 (GRCm39)	T359S	probably damaging	Het
Thap3	T	C	4: 152,067,788 (GRCm39)	M97V	probably benign	Het
Thg1l	T	A	11: 45,844,988 (GRCm39)	Q88L	possibly damaging	Het
Tjp3	T	C	10: 81,109,657 (GRCm39)	T849A	probably benign	Het
Tomm70a	G	T	16: 56,963,180 (GRCm39)	D400Y	probably damaging	Het
Trak2	T	C	1: 58,961,000 (GRCm39)	I177V	probably benign	Het
Trim66	T	C	7: 109,074,661 (GRCm39)	I533M	probably benign	Het
Ush2a	T	A	1: 188,380,545 (GRCm39)	Y2285N	probably benign	Het
Ush2a	C	T	1: 188,596,836 (GRCm39)	P3859S	probably damaging	Het

Other mutations in Hspbap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00695:Hspbap1	APN	16	35,634,431 (GRCm39)	splice site	probably benign
IGL01377:Hspbap1	APN	16	35,645,681 (GRCm39)	missense	possibly damaging	0.48
IGL03070:Hspbap1	APN	16	35,639,096 (GRCm39)	missense	probably damaging	0.96
R1346:Hspbap1	UTSW	16	35,622,035 (GRCm39)	missense	probably damaging	1.00
R1532:Hspbap1	UTSW	16	35,645,673 (GRCm39)	missense	probably damaging	1.00
R1848:Hspbap1	UTSW	16	35,639,134 (GRCm39)	critical splice donor site	probably null
R1867:Hspbap1	UTSW	16	35,621,934 (GRCm39)	missense	possibly damaging	0.77
R4512:Hspbap1	UTSW	16	35,607,611 (GRCm39)	missense	probably damaging	0.98
R4718:Hspbap1	UTSW	16	35,607,692 (GRCm39)	missense	probably benign	0.07
R5553:Hspbap1	UTSW	16	35,621,967 (GRCm39)	missense	probably damaging	1.00
R5590:Hspbap1	UTSW	16	35,622,033 (GRCm39)	missense	probably damaging	1.00
R6151:Hspbap1	UTSW	16	35,637,592 (GRCm39)	missense	probably damaging	1.00
R6612:Hspbap1	UTSW	16	35,621,961 (GRCm39)	missense	probably damaging	1.00
R7253:Hspbap1	UTSW	16	35,637,600 (GRCm39)	missense	unknown
R7314:Hspbap1	UTSW	16	35,645,541 (GRCm39)	missense	probably benign	0.00
R8256:Hspbap1	UTSW	16	35,590,879 (GRCm39)	missense	probably benign	0.01
R8304:Hspbap1	UTSW	16	35,607,695 (GRCm39)	nonsense	probably null
R8359:Hspbap1	UTSW	16	35,645,366 (GRCm39)	missense	probably benign	0.02
R9337:Hspbap1	UTSW	16	35,645,395 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAAAAGCATGGGTCTGCCTTCTG -3'
(R):5'- TGCAAAGTGTCCTCCATTACTGCTG -3'

Sequencing Primer
(F):5'- TTTCCTCAGGAAGAGGACCAC -3'
(R):5'- ACTGCTGACAGATTCTTCGC -3'

Posted On

2014-01-05