Incidental Mutation 'R6720:Hspb6'
ID529537
Institutional Source Beutler Lab
Gene Symbol Hspb6
Ensembl Gene ENSMUSG00000036854
Gene Nameheat shock protein, alpha-crystallin-related, B6
SynonymsHsp20
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.249) question?
Stock #R6720 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location30552178-30555443 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30554347 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000043975
SMART Domains Protein: ENSMUSP00000048557
Gene: ENSMUSG00000036845

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:LIN37 58 229 1.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108165
SMART Domains Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864

DomainStartEndE-ValueType
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: ENSMUST00000149400
Predicted Effect probably benign
Transcript: ENSMUST00000153594
SMART Domains Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208706
Predicted Effect probably benign
Transcript: ENSMUST00000215288
Predicted Effect probably benign
Transcript: ENSMUST00000156241
SMART Domains Protein: ENSMUSP00000122248
Gene: ENSMUSG00000036845

DomainStartEndE-ValueType
Pfam:LIN37 80 202 7.5e-29 PFAM
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Predicted Primers PCR Primer
(F):5'- GACAGTCTACACAAGTCCTCG -3'
(R):5'- AGACAGTGCTGAGGTCACAG -3'

Sequencing Primer
(F):5'- AGCAGCACTGTAACCTATGTATC -3'
(R):5'- CTGAGGTCACAGCAGCAG -3'
Posted On2018-08-01