Incidental Mutation 'R0398:Hspa4l'
ID 32110
Institutional Source Beutler Lab
Gene Symbol Hspa4l
Ensembl Gene ENSMUSG00000025757
Gene Name heat shock protein 4 like
Synonyms Osp94, APG-1, 94kDa
MMRRC Submission 038603-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R0398 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 40699814-40750538 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 40711429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108086] [ENSMUST00000203353] [ENSMUST00000203496] [ENSMUST00000203904] [ENSMUST00000204702]
AlphaFold P48722
Predicted Effect probably benign
Transcript: ENSMUST00000077083
SMART Domains Protein: ENSMUSP00000076336
Gene: ENSMUSG00000025757

DomainStartEndE-ValueType
Pfam:HSP70 3 694 1.3e-192 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108086
SMART Domains Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757

DomainStartEndE-ValueType
Pfam:HSP70 11 673 2.1e-171 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203267
Predicted Effect probably benign
Transcript: ENSMUST00000203353
SMART Domains Protein: ENSMUSP00000144787
Gene: ENSMUSG00000025757

DomainStartEndE-ValueType
Pfam:HSP70 3 570 6.2e-184 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203496
SMART Domains Protein: ENSMUSP00000145243
Gene: ENSMUSG00000025757

DomainStartEndE-ValueType
Pfam:HSP70 3 58 5.4e-16 PFAM
Pfam:HSP70 54 158 9.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203904
SMART Domains Protein: ENSMUSP00000145405
Gene: ENSMUSG00000025757

DomainStartEndE-ValueType
Pfam:HSP70 3 125 6.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204702
SMART Domains Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757

DomainStartEndE-ValueType
Pfam:HSP70 3 694 1.3e-192 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 83.2%
Validation Efficiency 100% (81/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased incidence of male infertility, due to reduced number of mature sperm and reduced sperm motility, and hydronephrosis development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,117,010 (GRCm39) Q546R probably null Het
Acr T G 15: 89,458,144 (GRCm39) V275G probably damaging Het
Adam5 A G 8: 25,303,448 (GRCm39) Y160H probably benign Het
Adcy5 T A 16: 35,089,438 (GRCm39) M545K probably damaging Het
Aoc2 A G 11: 101,216,379 (GRCm39) E154G possibly damaging Het
Atg2a T G 19: 6,296,608 (GRCm39) L338R probably damaging Het
Atp2a1 T C 7: 126,049,590 (GRCm39) probably benign Het
Bbs7 A G 3: 36,644,866 (GRCm39) S436P probably benign Het
Bpnt1 T C 1: 185,070,355 (GRCm39) Y16H probably benign Het
Cbll1 A T 12: 31,542,091 (GRCm39) F90Y probably damaging Het
Cbs G T 17: 31,836,216 (GRCm39) Q411K probably benign Het
Cdca2 A C 14: 67,935,411 (GRCm39) F435V probably damaging Het
Cdh13 T G 8: 120,040,786 (GRCm39) S664A probably damaging Het
Cdk17 T A 10: 93,073,702 (GRCm39) V438E probably benign Het
Cep295 T C 9: 15,266,032 (GRCm39) D40G possibly damaging Het
Col6a1 T C 10: 76,545,952 (GRCm39) H840R unknown Het
Cpa1 A G 6: 30,645,250 (GRCm39) T409A probably benign Het
Crlf1 G A 8: 70,951,739 (GRCm39) probably benign Het
E2f2 T A 4: 135,907,855 (GRCm39) I184N probably damaging Het
Ehbp1 T C 11: 22,045,886 (GRCm39) D596G probably damaging Het
Elapor2 A G 5: 9,495,367 (GRCm39) R724G probably benign Het
Ets2 A G 16: 95,517,267 (GRCm39) Y333C probably damaging Het
Fam178b A G 1: 36,671,487 (GRCm39) probably benign Het
Fndc3b A G 3: 27,515,928 (GRCm39) V626A probably benign Het
Gart G T 16: 91,436,337 (GRCm39) A140E probably damaging Het
Gbp7 T C 3: 142,251,274 (GRCm39) S477P possibly damaging Het
Gm16380 T C 9: 53,791,453 (GRCm39) noncoding transcript Het
Hmcn1 C A 1: 150,674,565 (GRCm39) R579M possibly damaging Het
Hoxb8 A C 11: 96,173,937 (GRCm39) H50P probably damaging Het
Hspa4 C T 11: 53,163,706 (GRCm39) probably null Het
Hyal4 A T 6: 24,756,670 (GRCm39) Y296F probably damaging Het
Igsf8 C A 1: 172,145,066 (GRCm39) T131K probably damaging Het
Ilvbl C T 10: 78,415,373 (GRCm39) P298L probably damaging Het
Jak2 T A 19: 29,259,788 (GRCm39) I229N possibly damaging Het
Kif1b T C 4: 149,288,688 (GRCm39) D1205G possibly damaging Het
Lrrc63 T C 14: 75,363,910 (GRCm39) R74G probably benign Het
Lvrn A G 18: 47,013,760 (GRCm39) T481A probably benign Het
Macf1 T A 4: 123,244,810 (GRCm39) T7312S probably damaging Het
Magel2 C T 7: 62,030,299 (GRCm39) Q1068* probably null Het
Mrpl3 A G 9: 104,941,302 (GRCm39) Y203C probably damaging Het
Nek2 T A 1: 191,559,473 (GRCm39) I326N probably benign Het
Nlrc4 A C 17: 74,752,915 (GRCm39) N489K probably damaging Het
Nlrp4f A T 13: 65,342,732 (GRCm39) S304R possibly damaging Het
Ogfr C G 2: 180,235,492 (GRCm39) R189G probably damaging Het
Or52b4i T A 7: 102,191,899 (GRCm39) L252H probably damaging Het
Or5p78 T A 7: 108,212,162 (GRCm39) I216N probably benign Het
Or5w8 A T 2: 87,688,401 (GRCm39) N294I probably damaging Het
Orm3 A G 4: 63,275,885 (GRCm39) S145G probably benign Het
Pclo A G 5: 14,731,716 (GRCm39) E3406G unknown Het
Pcx T G 19: 4,651,638 (GRCm39) F4C probably benign Het
Pgd C A 4: 149,238,339 (GRCm39) G364V probably damaging Het
Pla2g12a C A 3: 129,684,045 (GRCm39) D102E probably benign Het
Pnpo A T 11: 96,833,253 (GRCm39) C82* probably null Het
Prdm1 T C 10: 44,315,805 (GRCm39) N792S probably damaging Het
Prim2 A T 1: 33,523,757 (GRCm39) probably benign Het
Proca1 C A 11: 78,096,094 (GRCm39) P242Q probably benign Het
Psmc5 A G 11: 106,152,370 (GRCm39) N129S probably benign Het
Ptchd4 A G 17: 42,688,150 (GRCm39) T231A possibly damaging Het
Qrfpr C T 3: 36,235,201 (GRCm39) probably benign Het
Rab44 G A 17: 29,364,344 (GRCm39) probably benign Het
Racgap1 T C 15: 99,526,508 (GRCm39) probably benign Het
Rapgef4 A G 2: 71,861,385 (GRCm39) E25G probably damaging Het
Rpl8 G C 15: 76,789,246 (GRCm39) probably benign Het
Samd12 G A 15: 53,583,116 (GRCm39) P73S possibly damaging Het
Samd9l T A 6: 3,374,502 (GRCm39) N920Y probably damaging Het
Sdk1 T C 5: 141,948,476 (GRCm39) V607A probably benign Het
Slc25a19 A G 11: 115,508,401 (GRCm39) Y196H probably damaging Het
Slc39a3 A T 10: 80,869,621 (GRCm39) M12K possibly damaging Het
Slc5a4a T C 10: 76,018,556 (GRCm39) I501T possibly damaging Het
Sp4 A T 12: 118,262,408 (GRCm39) V546D possibly damaging Het
Ssh3 C T 19: 4,313,727 (GRCm39) V511M possibly damaging Het
Stard9 T G 2: 120,526,788 (GRCm39) V1015G probably benign Het
Thoc5 G T 11: 4,871,978 (GRCm39) V516F possibly damaging Het
Ttc21a T A 9: 119,783,628 (GRCm39) I570N probably damaging Het
Ttc4 T C 4: 106,524,770 (GRCm39) probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Yipf3 A G 17: 46,562,411 (GRCm39) E298G possibly damaging Het
Zbtb34 C A 2: 33,301,060 (GRCm39) E494* probably null Het
Zfhx3 A G 8: 109,677,878 (GRCm39) Y2976C probably damaging Het
Other mutations in Hspa4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02466:Hspa4l APN 3 40,707,657 (GRCm39) nonsense probably null
IGL02605:Hspa4l APN 3 40,736,055 (GRCm39) missense probably benign 0.20
IGL02719:Hspa4l APN 3 40,727,090 (GRCm39) missense possibly damaging 0.60
R0281:Hspa4l UTSW 3 40,739,840 (GRCm39) splice site probably benign
R0487:Hspa4l UTSW 3 40,738,758 (GRCm39) missense possibly damaging 0.87
R0610:Hspa4l UTSW 3 40,733,832 (GRCm39) missense probably benign 0.01
R0760:Hspa4l UTSW 3 40,739,155 (GRCm39) nonsense probably null
R1491:Hspa4l UTSW 3 40,741,226 (GRCm39) missense probably benign 0.00
R1720:Hspa4l UTSW 3 40,736,049 (GRCm39) nonsense probably null
R1984:Hspa4l UTSW 3 40,714,833 (GRCm39) missense probably damaging 1.00
R1986:Hspa4l UTSW 3 40,714,833 (GRCm39) missense probably damaging 1.00
R2100:Hspa4l UTSW 3 40,727,090 (GRCm39) missense possibly damaging 0.60
R3706:Hspa4l UTSW 3 40,736,125 (GRCm39) missense possibly damaging 0.55
R3708:Hspa4l UTSW 3 40,736,125 (GRCm39) missense possibly damaging 0.55
R3856:Hspa4l UTSW 3 40,739,821 (GRCm39) missense probably benign 0.29
R3874:Hspa4l UTSW 3 40,727,074 (GRCm39) missense probably damaging 1.00
R3890:Hspa4l UTSW 3 40,736,026 (GRCm39) missense possibly damaging 0.90
R4256:Hspa4l UTSW 3 40,700,435 (GRCm39) missense probably benign 0.03
R4364:Hspa4l UTSW 3 40,721,241 (GRCm39) splice site probably null
R4365:Hspa4l UTSW 3 40,721,241 (GRCm39) splice site probably null
R4366:Hspa4l UTSW 3 40,721,241 (GRCm39) splice site probably null
R4493:Hspa4l UTSW 3 40,722,434 (GRCm39) missense possibly damaging 0.77
R4494:Hspa4l UTSW 3 40,707,636 (GRCm39) missense possibly damaging 0.86
R4954:Hspa4l UTSW 3 40,739,832 (GRCm39) critical splice donor site probably null
R4994:Hspa4l UTSW 3 40,700,081 (GRCm39) utr 5 prime probably benign
R5114:Hspa4l UTSW 3 40,700,197 (GRCm39) missense possibly damaging 0.60
R5133:Hspa4l UTSW 3 40,741,179 (GRCm39) missense possibly damaging 0.94
R5202:Hspa4l UTSW 3 40,736,001 (GRCm39) missense probably benign 0.17
R5440:Hspa4l UTSW 3 40,736,008 (GRCm39) missense probably damaging 1.00
R5635:Hspa4l UTSW 3 40,700,177 (GRCm39) missense probably damaging 1.00
R5997:Hspa4l UTSW 3 40,722,411 (GRCm39) missense probably damaging 0.99
R6012:Hspa4l UTSW 3 40,736,031 (GRCm39) missense probably benign 0.09
R6515:Hspa4l UTSW 3 40,736,014 (GRCm39) missense possibly damaging 0.82
R6589:Hspa4l UTSW 3 40,711,487 (GRCm39) missense probably damaging 0.99
R7091:Hspa4l UTSW 3 40,736,024 (GRCm39) missense probably benign 0.00
R7601:Hspa4l UTSW 3 40,738,788 (GRCm39) critical splice donor site probably null
R8072:Hspa4l UTSW 3 40,741,178 (GRCm39) missense probably damaging 0.98
R9103:Hspa4l UTSW 3 40,715,349 (GRCm39) critical splice donor site probably null
R9146:Hspa4l UTSW 3 40,736,101 (GRCm39) missense probably benign 0.15
R9762:Hspa4l UTSW 3 40,727,057 (GRCm39) missense probably benign 0.01
Z1088:Hspa4l UTSW 3 40,721,425 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCACAGTTAGGCACAAACCTGTCTC -3'
(R):5'- ACATCAATGTACTGCTGCTCACCG -3'

Sequencing Primer
(F):5'- TTTTAAGGACAGGGACCTAAGC -3'
(R):5'- TGCTGCTCACCGAGATCAC -3'
Posted On 2013-04-24