Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Hspb6'

529537

Institutional Source

Beutler Lab

Gene Symbol

Hspb6

Ensembl Gene

ENSMUSG00000036854

Gene Name

heat shock protein, alpha-crystallin-related, B6

Synonyms

Hsp20

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30552178-30555443 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30554347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 95 (D95G)

Ref Sequence

ENSEMBL: ENSMUSP00000039172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043975] [ENSMUST00000044048] [ENSMUST00000062708] [ENSMUST00000108164] [ENSMUST00000108165] [ENSMUST00000153594] [ENSMUST00000215288] [ENSMUST00000156241]

AlphaFold

Q5EBG6

Predicted Effect

probably benign
Transcript: ENSMUST00000043975

SMART Domains

Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	84	240	5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044048
AA Change: D95G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000039172
Gene: ENSMUSG00000036854
AA Change: D95G

Domain	Start	End	E-Value	Type
Pfam:Crystallin	1	62	4.4e-24	PFAM
Pfam:HSP20	66	158	5.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000062708

SMART Domains

Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108164

SMART Domains

Protein: ENSMUSP00000103799
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	58	229	1.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108165

SMART Domains

Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	351	365	N/A	INTRINSIC
low complexity region	369	383	N/A	INTRINSIC
low complexity region	388	407	N/A	INTRINSIC
low complexity region	599	614	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199248

Predicted Effect

probably benign
Transcript: ENSMUST00000153594

SMART Domains

Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864

Domain	Start	End	E-Value	Type
low complexity region	33	56	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149400

Predicted Effect

probably benign
Transcript: ENSMUST00000215288

Predicted Effect

probably benign
Transcript: ENSMUST00000156241

SMART Domains

Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845

Domain	Start	End	E-Value	Type
Pfam:LIN37	80	202	7.5e-29	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222		probably null	Het
Baz2b	G	T	2: 59,924,890	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552		probably null	Het
Cox15	A	G	19: 43,736,789	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832		probably null	Het
Ephb2	T	C	4: 136,657,502	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987	Q248K	probably damaging	Het
Ighv5-2	T	A	12: 113,578,506	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072		probably null	Het
Mmp15	A	G	8: 95,365,314	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052		probably null	Het
Plekha4	A	T	7: 45,540,886	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927	V165D	possibly damaging	Het

Other mutations in Hspb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1523:Hspb6	UTSW	7	30553423	missense	probably benign	0.24
R4282:Hspb6	UTSW	7	30553464	missense	possibly damaging	0.65
R7559:Hspb6	UTSW	7	30554287	missense	probably damaging	0.99
R7718:Hspb6	UTSW	7	30554347	missense	probably benign	0.02
R9663:Hspb6	UTSW	7	30554289	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAGTCTACACAAGTCCTCG -3'
(R):5'- AGACAGTGCTGAGGTCACAG -3'

Sequencing Primer
(F):5'- AGCAGCACTGTAACCTATGTATC -3'
(R):5'- CTGAGGTCACAGCAGCAG -3'

Posted On

2018-08-01