Incidental Mutation 'R8871:Hspa1l'
ID 676327
Institutional Source Beutler Lab
Gene Symbol Hspa1l
Ensembl Gene ENSMUSG00000007033
Gene Name heat shock protein 1-like
Synonyms 70kDa, Hsc70t, Msh5
MMRRC Submission 068685-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.716) question?
Stock # R8871 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35191679-35198204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35197799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 613 (Y613H)
Ref Sequence ENSEMBL: ENSMUSP00000007248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007248] [ENSMUST00000007266] [ENSMUST00000114011] [ENSMUST00000173004]
AlphaFold P16627
Predicted Effect probably benign
Transcript: ENSMUST00000007248
AA Change: Y613H

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000007248
Gene: ENSMUSG00000007033
AA Change: Y613H

DomainStartEndE-ValueType
Pfam:HSP70 8 614 6.5e-269 PFAM
low complexity region 616 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000007266
SMART Domains Protein: ENSMUSP00000007266
Gene: ENSMUSG00000007050

DomainStartEndE-ValueType
Sm 41 108 8.91e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114011
SMART Domains Protein: ENSMUSP00000109644
Gene: ENSMUSG00000007050

DomainStartEndE-ValueType
Sm 5 72 8.91e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173004
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,248,071 (GRCm39) M2606R probably benign Het
Abcg5 C T 17: 84,990,295 (GRCm39) E3K probably benign Het
Adam20 A C 8: 41,248,601 (GRCm39) H237P probably damaging Het
Alg3 T C 16: 20,424,684 (GRCm39) Y361C probably damaging Het
Ano8 A T 8: 71,931,944 (GRCm39) Y752N probably benign Het
AW551984 A T 9: 39,500,998 (GRCm39) L759* probably null Het
Bdp1 A C 13: 100,186,175 (GRCm39) V1759G probably damaging Het
Bicdl2 C A 17: 23,885,777 (GRCm39) Q273K probably damaging Het
Cc2d2a A T 5: 43,857,285 (GRCm39) T491S possibly damaging Het
Cdkl2 A G 5: 92,164,989 (GRCm39) S545P possibly damaging Het
Ceacam5 T A 7: 17,494,827 (GRCm39) I945K probably benign Het
Celf1 A G 2: 90,840,840 (GRCm39) Y369C probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col14a1 T G 15: 55,245,958 (GRCm39) D487E unknown Het
Crybg3 T C 16: 59,378,519 (GRCm39) N912D probably benign Het
Cstl1 A G 2: 148,596,554 (GRCm39) T86A probably damaging Het
Dixdc1 C T 9: 50,595,096 (GRCm39) V482M possibly damaging Het
Dmbt1 T C 7: 130,718,597 (GRCm39) Y1773H unknown Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Fbln2 A T 6: 91,233,215 (GRCm39) probably null Het
Fbxo16 A G 14: 65,531,348 (GRCm39) E84G probably damaging Het
Fras1 T A 5: 96,855,257 (GRCm39) V1922D probably benign Het
G6pc3 A G 11: 102,082,896 (GRCm39) H85R probably damaging Het
Galc A T 12: 98,212,543 (GRCm39) N197K probably damaging Het
Galnt12 T G 4: 47,108,582 (GRCm39) probably null Het
Gm10220 T A 5: 26,322,863 (GRCm39) Q183L probably benign Het
Gxylt2 A G 6: 100,760,109 (GRCm39) T215A probably damaging Het
Hnrnpf T G 6: 117,900,811 (GRCm39) S32A probably benign Het
Il1r2 T A 1: 40,144,424 (GRCm39) V37D probably benign Het
Itga11 C A 9: 62,668,823 (GRCm39) Y693* probably null Het
Itgax T A 7: 127,735,223 (GRCm39) F459L probably damaging Het
Jph1 A G 1: 17,067,719 (GRCm39) V656A possibly damaging Het
Kcnn4 A T 7: 24,083,500 (GRCm39) I394F possibly damaging Het
Kdelr3 T A 15: 79,410,044 (GRCm39) Y176* probably null Het
Kif13a T C 13: 46,984,279 (GRCm39) D162G probably damaging Het
Klhdc8b G A 9: 108,326,871 (GRCm39) P164S probably damaging Het
Lmbrd1 A T 1: 24,783,435 (GRCm39) Q357L probably damaging Het
Lrrc37a T C 11: 103,347,375 (GRCm39) M3107V unknown Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,552 (GRCm39) probably benign Het
Muc16 C A 9: 18,567,344 (GRCm39) G1725V unknown Het
Myo5c T C 9: 75,185,585 (GRCm39) S983P probably benign Het
Naip1 G A 13: 100,580,146 (GRCm39) H217Y probably damaging Het
Nlrc3 T C 16: 3,781,968 (GRCm39) probably benign Het
Nrl A T 14: 55,758,184 (GRCm39) L181Q probably damaging Het
Olig1 T C 16: 91,067,545 (GRCm39) *261R probably null Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or2l13b T C 16: 19,349,536 (GRCm39) I45V Het
Or8j3c T C 2: 86,253,697 (GRCm39) M108V probably benign Het
Oscp1 T A 4: 125,952,535 (GRCm39) L21Q probably damaging Het
Oxct1 G A 15: 4,064,763 (GRCm39) V34I probably benign Het
Pdzph1 A G 17: 59,195,033 (GRCm39) L1074P probably damaging Het
Pkd1l1 T A 11: 8,900,503 (GRCm39) S463C Het
Pnpla3 G A 15: 84,063,509 (GRCm39) E296K probably benign Het
Prss35 T G 9: 86,637,244 (GRCm39) L5V possibly damaging Het
Rbck1 T C 2: 152,164,096 (GRCm39) E336G possibly damaging Het
Rgl2 G A 17: 34,153,974 (GRCm39) R460Q probably damaging Het
Rmi1 T A 13: 58,557,156 (GRCm39) N468K probably benign Het
Rptor T A 11: 119,494,751 (GRCm39) I39N probably benign Het
S1pr1 A G 3: 115,505,628 (GRCm39) F322S probably damaging Het
Scgb1b10 T A 7: 31,800,544 (GRCm39) Y44* probably null Het
Setx A G 2: 29,038,114 (GRCm39) D1533G probably benign Het
Sf3b1 A G 1: 55,029,508 (GRCm39) Y1165H probably damaging Het
Sgcz A T 8: 38,420,103 (GRCm39) Y50N probably damaging Het
Sh3gl2 C A 4: 85,305,817 (GRCm39) P227Q Het
She T C 3: 89,759,795 (GRCm39) probably null Het
Slc9a4 T C 1: 40,642,015 (GRCm39) I328T probably damaging Het
Sort1 G A 3: 108,262,887 (GRCm39) probably null Het
Srebf1 A G 11: 60,091,595 (GRCm39) S977P probably benign Het
Srsf9 T C 5: 115,468,712 (GRCm39) V116A probably damaging Het
Tex15 G A 8: 34,066,992 (GRCm39) V2141I possibly damaging Het
Tmprss13 A T 9: 45,249,704 (GRCm39) H347L probably damaging Het
Trpv4 A G 5: 114,768,511 (GRCm39) F519S probably benign Het
Trrap A G 5: 144,758,649 (GRCm39) T2159A probably benign Het
Vmn1r36 A T 6: 66,693,442 (GRCm39) Y144* probably null Het
Vmn2r10 A G 5: 109,146,899 (GRCm39) I463T possibly damaging Het
Vps13a T A 19: 16,641,186 (GRCm39) N2312I probably damaging Het
Wdr81 A T 11: 75,343,919 (GRCm39) Y449* probably null Het
Zfhx3 A G 8: 109,676,867 (GRCm39) D2639G possibly damaging Het
Zfp120 A G 2: 149,959,995 (GRCm39) V131A probably benign Het
Zfp574 G T 7: 24,780,562 (GRCm39) C528F probably damaging Het
Zfp947 A T 17: 22,364,695 (GRCm39) N326K probably benign Het
Other mutations in Hspa1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Hspa1l APN 17 35,196,441 (GRCm39) missense probably damaging 1.00
IGL01548:Hspa1l APN 17 35,197,367 (GRCm39) missense probably damaging 0.98
IGL01860:Hspa1l APN 17 35,197,787 (GRCm39) missense probably benign 0.00
IGL01959:Hspa1l APN 17 35,196,111 (GRCm39) missense probably damaging 1.00
IGL02661:Hspa1l APN 17 35,196,251 (GRCm39) missense probably benign
R0355:Hspa1l UTSW 17 35,196,386 (GRCm39) missense probably benign
R0850:Hspa1l UTSW 17 35,196,599 (GRCm39) missense probably benign 0.01
R1675:Hspa1l UTSW 17 35,196,419 (GRCm39) missense probably damaging 1.00
R2148:Hspa1l UTSW 17 35,196,366 (GRCm39) missense probably damaging 0.98
R2169:Hspa1l UTSW 17 35,196,299 (GRCm39) missense probably benign
R2418:Hspa1l UTSW 17 35,196,164 (GRCm39) missense probably benign 0.05
R4323:Hspa1l UTSW 17 35,196,832 (GRCm39) nonsense probably null
R4924:Hspa1l UTSW 17 35,196,832 (GRCm39) nonsense probably null
R4926:Hspa1l UTSW 17 35,197,199 (GRCm39) missense possibly damaging 0.92
R5186:Hspa1l UTSW 17 35,197,445 (GRCm39) missense probably damaging 0.97
R5653:Hspa1l UTSW 17 35,196,396 (GRCm39) missense probably damaging 1.00
R5790:Hspa1l UTSW 17 35,196,216 (GRCm39) missense probably benign 0.08
R6086:Hspa1l UTSW 17 35,197,131 (GRCm39) missense possibly damaging 0.77
R6237:Hspa1l UTSW 17 35,196,428 (GRCm39) nonsense probably null
R7229:Hspa1l UTSW 17 35,196,231 (GRCm39) missense probably benign 0.05
R8952:Hspa1l UTSW 17 35,196,946 (GRCm39) missense probably benign
R8968:Hspa1l UTSW 17 35,196,230 (GRCm39) missense possibly damaging 0.83
R8984:Hspa1l UTSW 17 35,197,092 (GRCm39) missense probably damaging 0.99
R9056:Hspa1l UTSW 17 35,196,849 (GRCm39) missense probably benign 0.16
R9479:Hspa1l UTSW 17 35,196,735 (GRCm39) missense probably benign 0.05
R9520:Hspa1l UTSW 17 35,196,972 (GRCm39) missense probably damaging 1.00
Z1176:Hspa1l UTSW 17 35,197,468 (GRCm39) missense possibly damaging 0.52
Z1177:Hspa1l UTSW 17 35,196,992 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- AATGCCTTAGAATCGTACGCC -3'
(R):5'- TAGGCTTGAGTCCAGTCAGTTC -3'

Sequencing Primer
(F):5'- CGTACGCCTTTAATATGAAGAGCGC -3'
(R):5'- GCTTGAGTCCAGTCAGTTCAAGAATC -3'
Posted On 2021-07-15