Mutagenetix > Incidental Mutation

Incidental Mutation 'R8781:Hsf2bp'

670282

Institutional Source

Beutler Lab

Gene Symbol

Hsf2bp

Ensembl Gene

ENSMUSG00000002076

Gene Name

heat shock transcription factor 2 binding protein

Synonyms

4932437G14Rik

MMRRC Submission

068605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8781 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32163743-32253869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 32252241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 65 (E65Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002145] [ENSMUST00000081339] [ENSMUST00000151808]

AlphaFold

Q9D4G2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002145
AA Change: E65Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002145
Gene: ENSMUSG00000002076
AA Change: E65Q

Domain	Start	End	E-Value	Type
coiled coil region	50	126	N/A	INTRINSIC
low complexity region	214	225	N/A	INTRINSIC
SCOP:d1gw5a_	252	329	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081339

SMART Domains

Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392

Domain	Start	End	E-Value	Type
Pfam:Nop52	10	218	3.3e-73	PFAM
low complexity region	344	352	N/A	INTRINSIC
low complexity region	376	384	N/A	INTRINSIC
low complexity region	450	463	N/A	INTRINSIC
low complexity region	483	496	N/A	INTRINSIC
low complexity region	694	706	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151808

SMART Domains

Protein: ENSMUSP00000123044
Gene: ENSMUSG00000058392

Domain	Start	End	E-Value	Type
Pfam:Nop52	8	77	1.9e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	G	19: 3,767,538 (GRCm39)	D375G	possibly damaging	Het
Abi3bp	C	T	16: 56,426,512 (GRCm39)	T509I	probably damaging	Het
Atp13a2	T	A	4: 140,723,691 (GRCm39)	C257S	probably benign	Het
Ccdc183	T	A	2: 25,502,208 (GRCm39)		probably benign	Het
Cd109	C	T	9: 78,543,929 (GRCm39)	P158S	probably damaging	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cog5	T	A	12: 31,883,249 (GRCm39)	W393R	probably damaging	Het
Cyth1	C	T	11: 118,073,069 (GRCm39)	R277Q	probably damaging	Het
Ddx54	G	T	5: 120,751,217 (GRCm39)	R6L	probably benign	Het
Dnah8	T	A	17: 30,944,078 (GRCm39)	I1765N	probably damaging	Het
Erp27	G	A	6: 136,886,458 (GRCm39)	Q192*	probably null	Het
Fam81a	T	A	9: 70,032,381 (GRCm39)	H37L	probably damaging	Het
Fbn2	A	G	18: 58,194,719 (GRCm39)	S1481P	possibly damaging	Het
Fbp1	T	G	13: 63,016,831 (GRCm39)	I224L	probably benign	Het
Fhit	A	G	14: 10,421,503 (GRCm38)	V32A	probably damaging	Het
Gapvd1	T	A	2: 34,610,698 (GRCm39)	H495L	probably benign	Het
Gas2l3	T	C	10: 89,266,841 (GRCm39)	D33G	probably damaging	Het
Heatr5b	A	T	17: 79,102,738 (GRCm39)	D1213E	probably benign	Het
Kif28	G	T	1: 179,525,481 (GRCm39)	T937K	probably benign	Het
Klf6	T	A	13: 5,915,071 (GRCm39)	V170D	probably benign	Het
Kri1	A	T	9: 21,191,748 (GRCm39)	S283T		Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lct	A	G	1: 128,215,261 (GRCm39)	Y1772H	probably damaging	Het
Lrrc37	T	A	11: 103,508,958 (GRCm39)	E1003D	unknown	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Or2b2b	A	G	13: 21,859,013 (GRCm39)	S34P	probably damaging	Het
Or52j3	T	A	7: 102,836,082 (GRCm39)	D91E	probably benign	Het
Or8c14-ps1	T	G	9: 38,101,385 (GRCm39)	D121E	probably damaging	Het
Parg	T	A	14: 31,936,400 (GRCm39)	D518E	probably benign	Het
Pcx	G	A	19: 4,670,980 (GRCm39)	A1095T	probably damaging	Het
Pde1b	G	A	15: 103,433,727 (GRCm39)	V342M	probably damaging	Het
Pik3r2	C	T	8: 71,222,046 (GRCm39)	G579D	possibly damaging	Het
Pknox1	G	A	17: 31,821,837 (GRCm39)		probably benign	Het
Pla2g3	C	A	11: 3,438,530 (GRCm39)	T60K	probably benign	Het
Ppfia3	C	T	7: 44,997,953 (GRCm39)	E725K	possibly damaging	Het
Ppl	C	T	16: 4,915,800 (GRCm39)	V588I	possibly damaging	Het
Sardh	T	A	2: 27,086,715 (GRCm39)	E815V	possibly damaging	Het
Scn7a	T	C	2: 66,567,775 (GRCm39)	E273G	probably benign	Het
Slc7a8	A	T	14: 54,996,996 (GRCm39)		probably benign	Het
Smg8	G	A	11: 86,971,147 (GRCm39)	P875S	possibly damaging	Het
Sncaip	T	C	18: 53,039,614 (GRCm39)	S603P	probably benign	Het
Speg	G	A	1: 75,383,665 (GRCm39)	G1218S	probably damaging	Het
Stk31	A	T	6: 49,383,709 (GRCm39)	D92V	probably damaging	Het
Suco	A	G	1: 161,645,951 (GRCm39)	V1250A	probably damaging	Het
Tas2r138	A	G	6: 40,589,850 (GRCm39)	V132A	probably benign	Het
Tcp1	T	C	17: 13,143,263 (GRCm39)	I524T	probably damaging	Het
Tenm3	CTGCTGTGAAATG	C	8: 48,795,484 (GRCm39)		probably null	Het
Tln2	C	A	9: 67,163,233 (GRCm39)	V1105L	probably damaging	Het
Tmem19	T	C	10: 115,195,563 (GRCm39)		probably benign	Het
Tmprss4	T	C	9: 45,087,740 (GRCm39)	Y283C	possibly damaging	Het
Trim29	T	A	9: 43,222,615 (GRCm39)	V148D	probably benign	Het
Trip10	C	T	17: 57,562,313 (GRCm39)	A277V	probably benign	Het
Usp12	C	A	5: 146,700,172 (GRCm39)	R61L	probably benign	Het
Vmn1r58	T	G	7: 5,413,482 (GRCm39)	L249F	probably benign	Het
Vmn2r31	C	T	7: 7,387,400 (GRCm39)	V724I	possibly damaging	Het
Vmn2r66	C	T	7: 84,644,355 (GRCm39)	W685*	probably null	Het
Vmn2r8	A	G	5: 108,945,597 (GRCm39)	I670T	possibly damaging	Het
Vmn2r91	T	A	17: 18,305,323 (GRCm39)	M2K	possibly damaging	Het
Wdr12	A	G	1: 60,126,300 (GRCm39)	W172R	probably damaging	Het
Yipf5	A	T	18: 40,340,752 (GRCm39)	V200E	possibly damaging	Het
Zfp608	T	C	18: 55,031,801 (GRCm39)	K713R	probably damaging	Het
Zfp768	A	G	7: 126,942,476 (GRCm39)	S554P	probably damaging	Het

Other mutations in Hsf2bp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Hsf2bp	APN	17	32,206,378 (GRCm39)	missense	probably damaging	1.00
IGL03274:Hsf2bp	APN	17	32,226,744 (GRCm39)	missense	probably damaging	1.00
R0563:Hsf2bp	UTSW	17	32,226,692 (GRCm39)	missense	probably damaging	1.00
R0632:Hsf2bp	UTSW	17	32,232,320 (GRCm39)	missense	probably damaging	1.00
R0960:Hsf2bp	UTSW	17	32,226,743 (GRCm39)	missense	probably damaging	1.00
R1967:Hsf2bp	UTSW	17	32,206,378 (GRCm39)	nonsense	probably null
R4375:Hsf2bp	UTSW	17	32,206,322 (GRCm39)	missense	probably null	1.00
R4567:Hsf2bp	UTSW	17	32,165,708 (GRCm39)	missense	probably benign	0.01
R5510:Hsf2bp	UTSW	17	32,165,721 (GRCm39)	missense	unknown
R5546:Hsf2bp	UTSW	17	32,165,669 (GRCm39)	missense	probably damaging	0.98
R5988:Hsf2bp	UTSW	17	32,230,149 (GRCm39)	critical splice donor site	probably null
R7026:Hsf2bp	UTSW	17	32,252,254 (GRCm39)	missense	possibly damaging	0.93
R7459:Hsf2bp	UTSW	17	32,165,708 (GRCm39)	missense	probably benign	0.01
R7790:Hsf2bp	UTSW	17	32,253,453 (GRCm39)	missense	probably benign
R7944:Hsf2bp	UTSW	17	32,226,743 (GRCm39)	missense	probably damaging	1.00
R9130:Hsf2bp	UTSW	17	32,230,082 (GRCm39)	intron	probably benign
R9275:Hsf2bp	UTSW	17	32,206,336 (GRCm39)	nonsense	probably null
R9588:Hsf2bp	UTSW	17	32,241,810 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTAAAGTGCTGACAAAAGCTC -3'
(R):5'- AGCAAGTCGATTTGGGATGC -3'

Sequencing Primer
(F):5'- GTGCTGACAAAAGCTCCAAATAC -3'
(R):5'- GATGCTAGTTCTAGTCATCTGAAGAG -3'

Posted On

2021-04-30