Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Hspbap1'

523727

Institutional Source

Beutler Lab

Gene Symbol

Hspbap1

Ensembl Gene

ENSMUSG00000022849

Gene Name

Hspb associated protein 1

Synonyms

3830421G21Rik

MMRRC Submission

044735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35590745-35648847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 35621961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 102 (L102W)

Ref Sequence

ENSEMBL: ENSMUSP00000156217 (fasta)

Gene Model

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

AlphaFold

Q8BK58

Predicted Effect

probably damaging
Transcript: ENSMUST00000023555
AA Change: L102W

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

SMART Domains

Protein: ENSMUSP00000023555
Gene: ENSMUSG00000022849
AA Change: L102W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180485

Predicted Effect

probably damaging
Transcript: ENSMUST00000231579
AA Change: L102W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231802

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	C	1: 159,902,804 (GRCm39)	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,115,331 (GRCm39)	S87C	probably benign	Het
Arhgef37	T	C	18: 61,627,952 (GRCm39)	T664A	probably benign	Het
Arsi	A	G	18: 61,045,528 (GRCm39)	T73A	probably benign	Het
Cacnb2	A	T	2: 14,979,960 (GRCm39)	T274S	probably benign	Het
Cd244a	A	G	1: 171,401,672 (GRCm39)	T133A	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Ciz1	T	A	2: 32,267,323 (GRCm39)	S720T	possibly damaging	Het
Cxcr6	T	A	9: 123,639,785 (GRCm39)	I262N	probably damaging	Het
Cyp2a4	T	A	7: 26,008,072 (GRCm39)	F160I	probably benign	Het
Esrra	T	C	19: 6,889,220 (GRCm39)	T390A	probably benign	Het
Gm17079	T	A	14: 51,931,833 (GRCm39)	Q91L	possibly damaging	Het
Gm17079	C	A	14: 51,931,832 (GRCm39)	Q91H	probably damaging	Het
Got1	A	G	19: 43,493,242 (GRCm39)	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206 (GRCm39)	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,717,996 (GRCm39)	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,795,808 (GRCm39)	I154V	probably benign	Het
Hkdc1	T	C	10: 62,231,220 (GRCm39)	E628G	possibly damaging	Het
Hmcn1	C	G	1: 150,470,869 (GRCm39)		probably null	Het
Iqcb1	G	A	16: 36,692,023 (GRCm39)		probably benign	Het
Itga7	A	G	10: 128,784,862 (GRCm39)	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,874,897 (GRCm39)	D418V	probably benign	Het
Jakmip2	T	C	18: 43,690,432 (GRCm39)	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Kcnu1	A	G	8: 26,408,344 (GRCm39)	I52V	probably benign	Het
Kdm5a	T	C	6: 120,407,189 (GRCm39)	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,743,739 (GRCm39)		probably benign	Het
Mab21l3	A	G	3: 101,725,961 (GRCm39)	V345A	possibly damaging	Het
Marchf10	A	T	11: 105,287,904 (GRCm39)	S133T	probably damaging	Het
Mccc1	T	C	3: 36,048,079 (GRCm39)	S115G	probably benign	Het
Mchr1	G	A	15: 81,122,071 (GRCm39)	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,239,783 (GRCm39)	I48F	probably benign	Het
Myo9a	T	A	9: 59,734,479 (GRCm39)	F687Y	probably damaging	Het
Nfrkb	T	A	9: 31,308,302 (GRCm39)	L216*	probably null	Het
Nrxn3	A	T	12: 89,780,102 (GRCm39)		probably benign	Het
Olig2	T	A	16: 91,023,769 (GRCm39)	M161K	probably damaging	Het
Or11h7	A	T	14: 50,891,090 (GRCm39)	Y132F	probably damaging	Het
Pcdh15	T	A	10: 74,021,210 (GRCm39)	N141K	probably damaging	Het
Pcdha4	T	C	18: 37,088,031 (GRCm39)	V738A	probably benign	Het
Pdgfra	T	C	5: 75,328,503 (GRCm39)	S212P	probably benign	Het
Plk3	G	A	4: 116,989,934 (GRCm39)	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,484,378 (GRCm39)	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,081 (GRCm39)	N2303K	probably damaging	Het
Rab25	G	A	3: 88,450,710 (GRCm39)	T117M	probably damaging	Het
Relch	T	A	1: 105,619,732 (GRCm39)	D320E	possibly damaging	Het
Slc25a47	T	C	12: 108,821,904 (GRCm39)	V231A	probably benign	Het
Slx4	G	A	16: 3,803,140 (GRCm39)	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,156,758 (GRCm39)	A470V	probably benign	Het
Spa17	A	G	9: 37,517,090 (GRCm39)	F101S	probably benign	Het
Ssh1	C	T	5: 114,096,791 (GRCm39)	A217T	probably benign	Het
Stimate	T	A	14: 30,593,521 (GRCm39)		probably null	Het
Synm	G	C	7: 67,383,264 (GRCm39)	T1466S	probably damaging	Het
Tbc1d19	A	G	5: 53,967,187 (GRCm39)	E29G	possibly damaging	Het
Teddm2	T	A	1: 153,726,191 (GRCm39)	T175S	probably benign	Het
Tet2	T	A	3: 133,193,096 (GRCm39)	H446L	possibly damaging	Het
Tpm3-rs7	G	T	14: 113,552,268 (GRCm39)	R54L	probably benign	Het
Ttc5	T	A	14: 51,022,926 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,019,312 (GRCm39)	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,643,594 (GRCm39)	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,317,125 (GRCm39)	H312Q	possibly damaging	Het
Zfp462	A	T	4: 55,012,324 (GRCm39)		probably null	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
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'- GTCCTTAACCTTAAGAACACATCCG -3'
(R):5'- AACCTGTCAGGGCTCACATG -3'

Sequencing Primer
(F):5'- ACACATCCGTTCTTTTGGTTTTATTG -3'
(R):5'- GTCAGGGCTCACATGAGTACTTAC -3'

Posted On

2018-06-22