Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Hsf2bp'

431187

Institutional Source

Beutler Lab

Gene Symbol

Hsf2bp

Ensembl Gene

ENSMUSG00000002076

Gene Name

heat shock transcription factor 2 binding protein

Synonyms

4932437G14Rik

MMRRC Submission

043071-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32163743-32253869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32165721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 134 (R134C)

Gene Model

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

AlphaFold

Q9D4G2

Predicted Effect

silent
Transcript: ENSMUST00000002145

SMART Domains

Protein: ENSMUSP00000002145
Gene: ENSMUSG00000002076

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

unknown
Transcript: ENSMUST00000133308
AA Change: R134C

SMART Domains

Protein: ENSMUSP00000115909
Gene: ENSMUSG00000002076
AA Change: R134C

Domain	Start	End	E-Value	Type
transmembrane domain	64	86	N/A	INTRINSIC
low complexity region	92	103	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171455

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	G	3: 151,203,467 (GRCm39)	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,593,363 (GRCm39)	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,843,347 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,779,693 (GRCm39)	V392A	probably benign	Het
Ap2b1	A	G	11: 83,227,563 (GRCm39)		probably null	Het
Arsg	A	G	11: 109,418,700 (GRCm39)	E232G	probably benign	Het
Axdnd1	A	G	1: 156,162,920 (GRCm39)	F144S	probably benign	Het
Bud13	T	A	9: 46,203,498 (GRCm39)	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,012 (GRCm39)	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046 (GRCm39)	T1194A	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Ccdc88c	T	C	12: 100,911,290 (GRCm39)	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,406,024 (GRCm39)	W176R	probably damaging	Het
Cenpf	A	T	1: 189,415,100 (GRCm39)	D136E	probably benign	Het
Dclk2	T	C	3: 86,813,344 (GRCm39)	I201V	possibly damaging	Het
Defa24	T	A	8: 22,224,612 (GRCm39)	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,095,039 (GRCm39)	N566D	probably damaging	Het
Dido1	C	A	2: 180,326,966 (GRCm39)	V386L	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,028,807 (GRCm39)	P141S	probably benign	Het
Fmn1	T	C	2: 113,426,714 (GRCm39)	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113 (GRCm39)	L535P	probably damaging	Het
Gimap3	T	A	6: 48,742,183 (GRCm39)	E249V	possibly damaging	Het
Git2	A	T	5: 114,881,835 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,745 (GRCm39)	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,700,045 (GRCm39)	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,389,118 (GRCm39)	G31S	possibly damaging	Het
Herc2	A	T	7: 55,856,519 (GRCm39)	I3956F	probably damaging	Het
Igf1r	G	C	7: 67,843,107 (GRCm39)	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,658,443 (GRCm39)	E102G	probably damaging	Het
Kif1a	T	G	1: 92,969,414 (GRCm39)	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,705,821 (GRCm39)	L245S	probably damaging	Het
Med17	A	G	9: 15,181,700 (GRCm39)	S17P	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrps18b	A	G	17: 36,225,215 (GRCm39)		probably benign	Het
Ms4a8a	A	G	19: 11,056,828 (GRCm39)	S85P	probably benign	Het
Msln	T	C	17: 25,968,847 (GRCm39)	Q487R	probably benign	Het
Myh13	A	G	11: 67,228,549 (GRCm39)	N363S	probably benign	Het
Myo6	T	C	9: 80,152,942 (GRCm39)	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,634,383 (GRCm39)	D688G	probably damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or12d15	A	T	17: 37,694,192 (GRCm39)	M245L	probably benign	Het
Or1j16	G	A	2: 36,530,975 (GRCm39)	R308K	probably benign	Het
Or5p70	G	A	7: 107,994,332 (GRCm39)	A2T	probably benign	Het
Phf11a	C	A	14: 59,516,834 (GRCm39)	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,874,275 (GRCm39)	C520Y	probably benign	Het
Plxna4	C	A	6: 32,155,293 (GRCm39)	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,571,397 (GRCm39)	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,085,488 (GRCm39)	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,357,393 (GRCm39)		probably null	Het
Prss55	T	A	14: 64,314,574 (GRCm39)	M199L	probably damaging	Het
Qrich1	G	A	9: 108,433,659 (GRCm39)	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,842,005 (GRCm39)	V47A	probably damaging	Het
Raph1	A	T	1: 60,562,105 (GRCm39)		probably benign	Het
Rgs12	T	C	5: 35,123,383 (GRCm39)	Y389H	probably damaging	Het
Sec24b	C	A	3: 129,834,544 (GRCm39)	G82V	probably damaging	Het
Sema4a	A	G	3: 88,357,293 (GRCm39)		probably null	Het
Slc25a11	A	T	11: 70,536,361 (GRCm39)	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,244,551 (GRCm39)	S340A	probably benign	Het
Slc32a1	T	A	2: 158,456,716 (GRCm39)	M457K	probably damaging	Het
Spata31d1e	T	C	13: 59,890,234 (GRCm39)		probably null	Het
Spint4	C	T	2: 164,542,812 (GRCm39)	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,472,228 (GRCm39)	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,490,738 (GRCm39)	G863D	probably damaging	Het
Tmem156	G	A	5: 65,232,917 (GRCm39)	T151M	probably benign	Het
Trip12	T	C	1: 84,746,401 (GRCm39)	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,605,095 (GRCm39)	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 9,836,545 (GRCm39)	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 84,801,023 (GRCm39)	D304E	probably benign	Het
Wdr93	T	A	7: 79,399,779 (GRCm39)	F123I	probably damaging	Het
Zfp672	A	T	11: 58,207,456 (GRCm39)	C288*	probably null	Het
Zp1	T	C	19: 10,896,769 (GRCm39)	Y90C	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
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
R8781:Hsf2bp	UTSW	17	32,252,241 (GRCm39)	missense	possibly damaging	0.93
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'- ACCACTGGCATTTTCACCG -3'
(R):5'- GTGTTCAGTCACAAACATAACAAGC -3'

Sequencing Primer
(F):5'- GGCATTTTCACCGGGCTC -3'
(R):5'- TATTTCTGGATTAGCCCACAGC -3'

Posted On

2016-10-05