Mutagenetix > Incidental Mutation

Incidental Mutation 'R3874:Hspa4l'

276707

Institutional Source

Beutler Lab

Gene Symbol

Hspa4l

Ensembl Gene

ENSMUSG00000025757

Gene Name

heat shock protein 4 like

Synonyms

Osp94, APG-1, 94kDa

MMRRC Submission

040792-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R3874 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40699814-40750538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40727074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 492 (V492M)

Ref Sequence

ENSEMBL: ENSMUSP00000145468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108086] [ENSMUST00000203353] [ENSMUST00000204702]

AlphaFold

P48722

Predicted Effect

probably damaging
Transcript: ENSMUST00000077083
AA Change: V492M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076336
Gene: ENSMUSG00000025757
AA Change: V492M

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	694	1.3e-192	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108086
AA Change: V471M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757
AA Change: V471M

Domain	Start	End	E-Value	Type
Pfam:HSP70	11	673	2.1e-171	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203353
AA Change: V492M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144787
Gene: ENSMUSG00000025757
AA Change: V492M

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	570	6.2e-184	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203425

Predicted Effect

probably damaging
Transcript: ENSMUST00000204702
AA Change: V492M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
AA Change: V492M

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	694	1.3e-192	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130213A22Rik	C	A	11: 69,012,301 (GRCm39)	G26*	probably null	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acox2	A	G	14: 8,248,061 (GRCm38)	I407T	probably benign	Het
Adam8	T	C	7: 139,567,520 (GRCm39)	N408D	probably damaging	Het
Adgre1	A	T	17: 57,708,925 (GRCm39)	T39S	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Arid1b	T	A	17: 5,386,790 (GRCm39)		probably null	Het
Atp2c2	A	G	8: 120,462,035 (GRCm39)	I303V	possibly damaging	Het
Bpifc	C	T	10: 85,827,118 (GRCm39)	V144I	probably benign	Het
Camk4	A	G	18: 33,291,907 (GRCm39)	E189G	possibly damaging	Het
Casz1	A	G	4: 149,024,046 (GRCm39)		probably benign	Het
Ccdc134	T	C	15: 82,015,643 (GRCm39)	V41A	possibly damaging	Het
Chrd	A	T	16: 20,557,660 (GRCm39)	T753S	probably damaging	Het
Cracd	A	G	5: 76,988,739 (GRCm39)	D30G	probably damaging	Het
Cyb561a3	T	C	19: 10,562,735 (GRCm39)	V125A	probably benign	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dchs1	A	G	7: 105,410,842 (GRCm39)	F1687S	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnai2	G	T	11: 114,623,781 (GRCm39)	G15W	probably damaging	Het
Dsg1c	A	G	18: 20,410,109 (GRCm39)	I526V	probably benign	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Gli1	A	T	10: 127,166,088 (GRCm39)	V1055E	probably damaging	Het
Hand2	G	T	8: 57,775,011 (GRCm39)	A24S	probably benign	Het
Helb	T	C	10: 119,941,942 (GRCm39)	I249V	probably benign	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Kcnu1	T	A	8: 26,375,345 (GRCm39)	L353H	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt9	C	T	11: 100,081,675 (GRCm39)	V285I	probably damaging	Het
Mansc1	T	C	6: 134,587,146 (GRCm39)	R344G	possibly damaging	Het
Mier2	G	T	10: 79,377,631 (GRCm39)	P439T	possibly damaging	Het
Mppe1	T	A	18: 67,358,957 (GRCm39)		probably null	Het
Nedd4l	G	A	18: 65,300,606 (GRCm39)	A243T	probably benign	Het
Notch4	T	A	17: 34,797,043 (GRCm39)	C934*	probably null	Het
Nsmce3	C	T	7: 64,521,916 (GRCm39)	D251N	probably damaging	Het
Or10a49	C	T	7: 108,468,335 (GRCm39)	V9M	probably damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or3a10	A	G	11: 73,935,525 (GRCm39)	C192R	probably damaging	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or8g23	A	G	9: 38,971,470 (GRCm39)	I164T	probably benign	Het
Pdzd7	T	C	19: 45,034,067 (GRCm39)	T6A	probably benign	Het
Picalm	T	A	7: 89,838,427 (GRCm39)	F493Y	probably damaging	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Prl8a1	T	C	13: 27,759,441 (GRCm39)	K199E	possibly damaging	Het
Rims1	C	T	1: 22,498,740 (GRCm39)	R764H	probably damaging	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Rufy2	T	C	10: 62,833,916 (GRCm39)	L294P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc22a30	G	T	19: 8,314,213 (GRCm39)	T491K	probably benign	Het
Slc35b3	T	C	13: 39,127,044 (GRCm39)	N20D	possibly damaging	Het
Slc5a4a	T	C	10: 76,017,489 (GRCm39)	F429L	probably benign	Het
Sulf1	T	C	1: 12,887,636 (GRCm39)	I270T	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Tnc	T	A	4: 63,926,947 (GRCm39)	I860F	probably damaging	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Ttn	T	G	2: 76,584,443 (GRCm39)	T22222P	probably damaging	Het
Uroc1	A	T	6: 90,338,494 (GRCm39)	K652*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r120	A	T	17: 57,831,954 (GRCm39)	F278L	probably benign	Het
Vmn2r7	A	G	3: 64,627,032 (GRCm39)	F86L	possibly damaging	Het
Vmn2r87	A	T	10: 130,315,856 (GRCm39)	I70K	possibly damaging	Het
Vps13a	C	T	19: 16,722,317 (GRCm39)	A332T	probably benign	Het
Zfp568	T	A	7: 29,722,821 (GRCm39)	C589S	probably damaging	Het

Other mutations in Hspa4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0398:Hspa4l	UTSW	3	40,711,429 (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
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'- CCCATGGCAGTCATCTAGAAC -3'
(R):5'- AAGGTACTCACTACGGAGGTG -3'

Sequencing Primer
(F):5'- CATGGCAGTCATCTAGAACTGAATC -3'
(R):5'- CACTACGGAGGTGCTGTCAATATC -3'

Posted On

2015-04-06