Incidental Mutation 'R6797:Hspbp1'
ID 533049
Institutional Source Beutler Lab
Gene Symbol Hspbp1
Ensembl Gene ENSMUSG00000063802
Gene Name HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1
Synonyms 1500019G21Rik
MMRRC Submission 044910-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6797 (G1)
Quality Score 183.009
Status Validated
Chromosome 7
Chromosomal Location 4663520-4688067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4663781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 355 (M355L)
Ref Sequence ENSEMBL: ENSMUSP00000078886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000079970] [ENSMUST00000205374] [ENSMUST00000205952]
AlphaFold Q99P31
Predicted Effect probably benign
Transcript: ENSMUST00000064099
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
Pfam:SAPS 128 378 4.6e-69 PFAM
Pfam:SAPS 372 519 1.8e-39 PFAM
low complexity region 525 536 N/A INTRINSIC
low complexity region 618 639 N/A INTRINSIC
low complexity region 669 681 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 842 855 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000079970
AA Change: M355L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078886
Gene: ENSMUSG00000063802
AA Change: M355L

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
Pfam:Fes1 43 138 2.5e-12 PFAM
SCOP:d1ee4a_ 150 302 2e-12 SMART
Blast:ARM 216 256 3e-11 BLAST
Blast:ARM 259 299 4e-13 BLAST
low complexity region 306 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205374
Predicted Effect probably benign
Transcript: ENSMUST00000205474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205812
Predicted Effect probably benign
Transcript: ENSMUST00000205952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206391
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 100% (42/42)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation show male infertility with an arrest of male meiosis, increased male germ cell apoptosis and azoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c18 T A 13: 4,195,276 (GRCm39) I61L probably benign Het
Angptl2 T C 2: 33,118,277 (GRCm39) V17A probably benign Het
Casp14 T C 10: 78,550,975 (GRCm39) D70G possibly damaging Het
Cckbr A G 7: 105,083,773 (GRCm39) M234V possibly damaging Het
Cd93 T C 2: 148,284,044 (GRCm39) N434S probably benign Het
Cenpe A T 3: 134,943,899 (GRCm39) Q938L possibly damaging Het
Col6a3 A C 1: 90,731,810 (GRCm39) V1481G probably damaging Het
Dnah5 G T 15: 28,233,384 (GRCm39) E248* probably null Het
Dnah5 G A 15: 28,451,609 (GRCm39) R4349Q probably damaging Het
F11 A G 8: 45,706,092 (GRCm39) Y98H probably benign Het
Fen1 A G 19: 10,178,067 (GRCm39) F126L probably benign Het
Gpr146 G A 5: 139,378,795 (GRCm39) G199D possibly damaging Het
Gramd1b A G 9: 40,219,702 (GRCm39) I324T probably benign Het
H2bc12 A T 13: 22,220,259 (GRCm39) N68I probably benign Het
Hivep1 C A 13: 42,310,557 (GRCm39) S932R probably benign Het
Hk3 A T 13: 55,158,644 (GRCm39) probably null Het
Jaml T C 9: 45,000,058 (GRCm39) C77R probably damaging Het
Kmt2e A G 5: 23,687,505 (GRCm39) N452D possibly damaging Het
Krt5 T C 15: 101,621,076 (GRCm39) Y57C unknown Het
Lipn A T 19: 34,058,160 (GRCm39) M294L probably benign Het
Magel2 A G 7: 62,029,907 (GRCm39) E937G unknown Het
Med13l G A 5: 118,897,329 (GRCm39) probably null Het
Mrgprb8 G A 7: 48,038,892 (GRCm39) V188I probably benign Het
Ocln T C 13: 100,676,223 (GRCm39) D90G probably damaging Het
Ofcc1 C T 13: 40,241,423 (GRCm39) R695Q possibly damaging Het
Or11h23 T A 14: 50,948,563 (GRCm39) Y259N probably damaging Het
Or52ab7 G A 7: 102,978,328 (GRCm39) V212I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pak5 A T 2: 135,939,454 (GRCm39) H560Q probably damaging Het
Pigg T C 5: 108,480,694 (GRCm39) S493P probably damaging Het
Ppp6r3 A G 19: 3,564,719 (GRCm39) W185R probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sacs T A 14: 61,450,522 (GRCm39) D4189E probably damaging Het
Serpinb9b A G 13: 33,213,467 (GRCm39) N8S possibly damaging Het
Slit3 A G 11: 35,524,779 (GRCm39) T730A possibly damaging Het
Srgap3 A T 6: 112,806,503 (GRCm39) F53I probably damaging Het
Stc2 T A 11: 31,315,351 (GRCm39) K163* probably null Het
Tasor2 T C 13: 3,626,769 (GRCm39) I1060M probably benign Het
Tlk1 T A 2: 70,568,770 (GRCm39) K411* probably null Het
Ttc27 G T 17: 75,036,883 (GRCm39) L185F probably benign Het
Vmn2r102 C T 17: 19,880,694 (GRCm39) Q12* probably null Het
Vmn2r95 C T 17: 18,672,551 (GRCm39) probably benign Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Wdr64 T A 1: 175,638,176 (GRCm39) probably null Het
Other mutations in Hspbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Hspbp1 APN 7 4,667,750 (GRCm39) missense probably damaging 0.97
IGL02072:Hspbp1 APN 7 4,680,720 (GRCm39) missense probably damaging 1.00
IGL02548:Hspbp1 APN 7 4,684,840 (GRCm39) splice site probably benign
IGL02573:Hspbp1 APN 7 4,680,852 (GRCm39) missense probably damaging 1.00
IGL03177:Hspbp1 APN 7 4,667,700 (GRCm39) critical splice donor site probably null
IGL03181:Hspbp1 APN 7 4,687,363 (GRCm39) missense probably damaging 1.00
R0568:Hspbp1 UTSW 7 4,687,431 (GRCm39) nonsense probably null
R0670:Hspbp1 UTSW 7 4,680,735 (GRCm39) missense probably damaging 1.00
R3013:Hspbp1 UTSW 7 4,666,483 (GRCm39) missense probably benign 0.18
R3729:Hspbp1 UTSW 7 4,680,808 (GRCm39) missense probably damaging 1.00
R3934:Hspbp1 UTSW 7 4,667,594 (GRCm39) missense probably benign 0.41
R6031:Hspbp1 UTSW 7 4,666,465 (GRCm39) missense probably benign 0.28
R6031:Hspbp1 UTSW 7 4,666,465 (GRCm39) missense probably benign 0.28
R6034:Hspbp1 UTSW 7 4,680,711 (GRCm39) missense probably damaging 1.00
R6034:Hspbp1 UTSW 7 4,680,711 (GRCm39) missense probably damaging 1.00
R6728:Hspbp1 UTSW 7 4,663,781 (GRCm39) missense possibly damaging 0.93
R6930:Hspbp1 UTSW 7 4,687,606 (GRCm39) missense probably benign
R6992:Hspbp1 UTSW 7 4,667,714 (GRCm39) missense probably benign 0.23
R7459:Hspbp1 UTSW 7 4,687,577 (GRCm39) missense probably benign 0.00
R7525:Hspbp1 UTSW 7 4,666,435 (GRCm39) missense probably damaging 1.00
R7608:Hspbp1 UTSW 7 4,663,821 (GRCm39) missense possibly damaging 0.73
R7962:Hspbp1 UTSW 7 4,684,841 (GRCm39) critical splice donor site probably null
R8812:Hspbp1 UTSW 7 4,667,783 (GRCm39) missense probably benign 0.01
R8971:Hspbp1 UTSW 7 4,684,858 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- TTTGAAGAGCAGTGTGGACATG -3'
(R):5'- TCATGATTGGCGCAGTGGTC -3'

Sequencing Primer
(F):5'- GGCCAGCACCTTTCTCAG -3'
(R):5'- CAGTGGTCCTTGGGAAAGGC -3'
Posted On 2018-08-29