Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Hspbap1'

567845

Institutional Source

Beutler Lab

Gene Symbol

Hspbap1

Ensembl Gene

ENSMUSG00000022849

Gene Name

Hspb associated protein 1

Synonyms

3830421G21Rik

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35590745-35648847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35645541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 409 (S409T)

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 benign
Transcript: ENSMUST00000231579
AA Change: S409T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (44/44)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Ghdc	T	C	11: 100,659,928 (GRCm39)	E273G	probably damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	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
R1099:Hspbap1	UTSW	16	35,645,314 (GRCm39)	missense	probably damaging	0.99
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
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'- AGAGTTGCAAGTGCTGAGC -3'
(R):5'- TTGTATCAAAAGCTGGGCCACC -3'

Sequencing Primer
(F):5'- GCTGAGCGCAAACGGGG -3'
(R):5'- CATCCTGGTTACTTGTGGATTAAC -3'

Posted On

2019-06-26