Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Hspa4l'

395910

Institutional Source

Beutler Lab

Gene Symbol

Hspa4l

Ensembl Gene

ENSMUSG00000025757

Gene Name

heat shock protein 4 like

Synonyms

94kDa, Osp94, APG-1

MMRRC Submission

042721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40744495-40796103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40786747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 709 (D709E)

Ref Sequence

ENSEMBL: ENSMUSP00000103721 (fasta)

Gene Model

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

AlphaFold

P48722

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108086
AA Change: D709E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757
AA Change: D709E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160026
AA Change: D199E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204174

Predicted Effect

probably benign
Transcript: ENSMUST00000204702
AA Change: D730E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
AA Change: D730E

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,563,969	T65I	possibly damaging	Het
A3galt2	A	T	4: 128,762,141	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Apob	A	T	12: 8,008,898	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178	F86L	possibly damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Ezh2	C	T	6: 47,540,750	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam234b	T	C	6: 135,209,195	V67A	probably benign	Het
Fbn2	T	C	18: 58,039,340	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015	Y271H	probably damaging	Het
Gm960	T	A	19: 4,658,421	S194C	probably damaging	Het
Gnmt	A	T	17: 46,725,934	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Il17ra	A	G	6: 120,481,553	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059	T426A	possibly damaging	Het
Jup	T	C	11: 100,383,115	D200G	probably benign	Het
Kcnq1	T	C	7: 143,194,346		probably null	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Kras	T	C	6: 145,232,153	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066	D457G	probably benign	Het
Med13	T	C	11: 86,319,849	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192	T496A	probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nckap5	T	C	1: 126,033,960	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717	P224T	possibly damaging	Het
Olfr1221	A	T	2: 89,111,796		probably null	Het
Olfr1434	T	C	19: 12,283,306	L86P	possibly damaging	Het
Olfr1480	T	A	19: 13,530,078	M135K	probably damaging	Het
Olfr60	A	T	7: 140,345,323	I222N	probably damaging	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890	F108L	probably benign	Het
Pde8b	T	C	13: 95,086,742	I335V	probably benign	Het
Pdzd7	T	A	19: 45,028,429	I886L	possibly damaging	Het
Prune2	C	T	19: 17,003,631	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Rab27b	T	C	18: 69,989,588	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473		probably null	Het
Snrpf	T	C	10: 93,588,123	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820	K39N	probably null	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,075,506	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006	I23T	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864	W60R	probably benign	Het

Other mutations in Hspa4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02466:Hspa4l	APN	3	40,753,225 (GRCm38)	nonsense	probably null
IGL02605:Hspa4l	APN	3	40,781,623 (GRCm38)	missense	probably benign	0.20
IGL02719:Hspa4l	APN	3	40,772,658 (GRCm38)	missense	possibly damaging	0.60
R0281:Hspa4l	UTSW	3	40,785,408 (GRCm38)	splice site	probably benign
R0398:Hspa4l	UTSW	3	40,756,997 (GRCm38)	splice site	probably benign
R0487:Hspa4l	UTSW	3	40,784,326 (GRCm38)	missense	possibly damaging	0.87
R0610:Hspa4l	UTSW	3	40,779,400 (GRCm38)	missense	probably benign	0.01
R0760:Hspa4l	UTSW	3	40,784,723 (GRCm38)	nonsense	probably null
R1491:Hspa4l	UTSW	3	40,786,794 (GRCm38)	missense	probably benign	0.00
R1720:Hspa4l	UTSW	3	40,781,617 (GRCm38)	nonsense	probably null
R1984:Hspa4l	UTSW	3	40,760,401 (GRCm38)	missense	probably damaging	1.00
R1986:Hspa4l	UTSW	3	40,760,401 (GRCm38)	missense	probably damaging	1.00
R2100:Hspa4l	UTSW	3	40,772,658 (GRCm38)	missense	possibly damaging	0.60
R3706:Hspa4l	UTSW	3	40,781,693 (GRCm38)	missense	possibly damaging	0.55
R3708:Hspa4l	UTSW	3	40,781,693 (GRCm38)	missense	possibly damaging	0.55
R3856:Hspa4l	UTSW	3	40,785,389 (GRCm38)	missense	probably benign	0.29
R3874:Hspa4l	UTSW	3	40,772,642 (GRCm38)	missense	probably damaging	1.00
R3890:Hspa4l	UTSW	3	40,781,594 (GRCm38)	missense	possibly damaging	0.90
R4256:Hspa4l	UTSW	3	40,746,003 (GRCm38)	missense	probably benign	0.03
R4364:Hspa4l	UTSW	3	40,766,809 (GRCm38)	splice site	probably null
R4365:Hspa4l	UTSW	3	40,766,809 (GRCm38)	splice site	probably null
R4366:Hspa4l	UTSW	3	40,766,809 (GRCm38)	splice site	probably null
R4493:Hspa4l	UTSW	3	40,768,002 (GRCm38)	missense	possibly damaging	0.77
R4494:Hspa4l	UTSW	3	40,753,204 (GRCm38)	missense	possibly damaging	0.86
R4954:Hspa4l	UTSW	3	40,785,400 (GRCm38)	critical splice donor site	probably null
R4994:Hspa4l	UTSW	3	40,745,649 (GRCm38)	utr 5 prime	probably benign
R5114:Hspa4l	UTSW	3	40,745,765 (GRCm38)	missense	possibly damaging	0.60
R5202:Hspa4l	UTSW	3	40,781,569 (GRCm38)	missense	probably benign	0.17
R5440:Hspa4l	UTSW	3	40,781,576 (GRCm38)	missense	probably damaging	1.00
R5635:Hspa4l	UTSW	3	40,745,745 (GRCm38)	missense	probably damaging	1.00
R5997:Hspa4l	UTSW	3	40,767,979 (GRCm38)	missense	probably damaging	0.99
R6012:Hspa4l	UTSW	3	40,781,599 (GRCm38)	missense	probably benign	0.09
R6515:Hspa4l	UTSW	3	40,781,582 (GRCm38)	missense	possibly damaging	0.82
R6589:Hspa4l	UTSW	3	40,757,055 (GRCm38)	missense	probably damaging	0.99
R7091:Hspa4l	UTSW	3	40,781,592 (GRCm38)	missense	probably benign	0.00
R7601:Hspa4l	UTSW	3	40,784,356 (GRCm38)	critical splice donor site	probably null
R8072:Hspa4l	UTSW	3	40,786,746 (GRCm38)	missense	probably damaging	0.98
R9103:Hspa4l	UTSW	3	40,760,917 (GRCm38)	critical splice donor site	probably null
R9146:Hspa4l	UTSW	3	40,781,669 (GRCm38)	missense	probably benign	0.15
R9762:Hspa4l	UTSW	3	40,772,625 (GRCm38)	missense	probably benign	0.01
Z1088:Hspa4l	UTSW	3	40,766,993 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGTCCTTTGGAAATCTGCAC -3'
(R):5'- CCATTAAGCACGGTTGAAAAGG -3'

Sequencing Primer
(F):5'- CCTTTGGAAATCTGCACTGATTTTAC -3'
(R):5'- TGAAAAGGGAATGGAGTTTCTTACC -3'

Posted On

2016-06-21