Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Hspa4l'

54594

Institutional Source

Beutler Lab

Gene Symbol

Hspa4l

Ensembl Gene

ENSMUSG00000025757

Gene Name

heat shock protein 4 like

Synonyms

94kDa, Osp94, APG-1

MMRRC Submission

038799-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R0610 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

40744495-40796103 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40779400 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 526 (E526D)

Ref Sequence

ENSEMBL: ENSMUSP00000103721 (fasta)

Gene Model

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

AlphaFold

P48722

Predicted Effect

probably benign
Transcript: ENSMUST00000077083
AA Change: E547D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000076336
Gene: ENSMUSG00000025757
AA Change: E547D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000108086
AA Change: E526D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757
AA Change: E526D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203353
AA Change: E547D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144787
Gene: ENSMUSG00000025757
AA Change: E547D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204174

Predicted Effect

probably benign
Transcript: ENSMUST00000204702
AA Change: E547D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
AA Change: E547D

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

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4930578I06Rik	G	A	14: 63,986,265	R21*	probably null	Het
9530003J23Rik	A	G	10: 117,237,730	F66S	probably benign	Het
Abca15	A	G	7: 120,365,786	E757G	possibly damaging	Het
Abca5	T	C	11: 110,301,527	T720A	probably benign	Het
Actr5	T	A	2: 158,632,456		probably null	Het
Adgrl3	T	C	5: 81,693,716		probably benign	Het
Adra1a	A	G	14: 66,637,792	D72G	probably damaging	Het
Ahnak	G	T	19: 9,007,878	L2175F	probably benign	Het
AK157302	A	G	13: 21,495,663	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,389,254	A336V	probably benign	Het
Asic1	C	A	15: 99,698,899	H525Q	probably benign	Het
Atxn7l2	T	C	3: 108,204,774	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,504,349	R227L	possibly damaging	Het
Calm4	T	A	13: 3,838,320	V142E	possibly damaging	Het
Catsperg1	A	T	7: 29,190,619	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,449,898	I83M	probably damaging	Het
Cep295	A	C	9: 15,322,754	S2249A	possibly damaging	Het
Cln3	A	G	7: 126,580,189	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,478,056	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,707,848	V53E	probably benign	Het
Csmd1	G	A	8: 15,918,208	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,271,558	W11R	probably damaging	Het
Dbx2	C	T	15: 95,624,897	V310M	probably benign	Het
Disp2	T	A	2: 118,792,236	C1150S	probably benign	Het
Dock3	T	C	9: 107,023,788	D326G	probably damaging	Het
Dph1	G	T	11: 75,185,957		probably benign	Het
Dyrk1b	C	A	7: 28,186,634	T594K	probably damaging	Het
Evx2	C	A	2: 74,655,987	A353S	probably benign	Het
Fam71f1	T	A	6: 29,326,577	V231E	probably benign	Het
Gm4737	T	C	16: 46,153,901	E371G	probably damaging	Het
Gm4788	G	A	1: 139,701,846	T799I	probably benign	Het
Greb1	A	C	12: 16,696,442	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,319,402	C490*	probably null	Het
Hmmr	G	T	11: 40,715,902	T231K	probably damaging	Het
Ibsp	A	G	5: 104,310,134	E179G	probably benign	Het
Ift140	C	T	17: 25,035,803	A150V	probably benign	Het
Igf2bp2	A	G	16: 22,070,309	S416P	probably benign	Het
Ighe	T	C	12: 113,271,743	K294E	unknown	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kng2	T	A	16: 23,000,594	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,399,739	C331S	probably benign	Het
Lrrc1	A	G	9: 77,472,206	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,815,416	I2489L	probably benign	Het
Mapk9	A	C	11: 49,863,573	N51T	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Nek2	T	A	1: 191,822,515	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903	A248E	probably benign	Het
Nrp1	T	C	8: 128,502,618	I859T	probably damaging	Het
Olfm5	A	T	7: 104,154,445	Y195*	probably null	Het
Olfr354	T	A	2: 36,907,659	W238R	probably damaging	Het
Olfr71	T	A	4: 43,706,400	H56L	possibly damaging	Het
Olfr955	A	G	9: 39,469,823	L301P	probably damaging	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcnx2	A	G	8: 125,839,687	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,098,171		probably null	Het
Ryr2	T	A	13: 11,622,952	H3731L	probably damaging	Het
Sdr16c5	T	G	4: 4,016,116	E103D	possibly damaging	Het
Setdb2	A	C	14: 59,417,470	S324A	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,576,626	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,379,942	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,909,424	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,283,728	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,918,461		probably null	Het
Slit2	A	G	5: 48,275,674	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,691,391	L930Q	probably damaging	Het
Snx6	T	C	12: 54,751,789	H387R	probably damaging	Het
Sox5	A	T	6: 143,833,439	M622K	possibly damaging	Het
Ston1	C	A	17: 88,635,281	N38K	possibly damaging	Het
Strbp	C	T	2: 37,584,077	V658I	probably damaging	Het
Strn3	T	C	12: 51,610,448		probably null	Het
Suco	T	G	1: 161,859,503	D96A	probably benign	Het
Suco	A	G	1: 161,864,032		probably benign	Het
Sytl2	A	T	7: 90,380,853		probably benign	Het
Tmem41b	T	A	7: 109,981,083	M25L	probably benign	Het
Tmem41b	T	A	7: 109,981,085	D91V	probably damaging	Het
Tmem50b	C	T	16: 91,583,286	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,707,347	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,031,661		probably null	Het
Trappc8	A	G	18: 20,837,188	V916A	probably damaging	Het
Trdn	G	T	10: 33,474,453	V673F	probably damaging	Het
Trim28	G	T	7: 13,025,784		probably benign	Het
Txnrd2	T	C	16: 18,472,882	V427A	probably damaging	Het
Uggt1	T	C	1: 36,165,506		probably benign	Het
Vmn1r36	A	G	6: 66,716,420	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,803,064	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,387,312	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,475,514	N453S	probably benign	Het
Wbp1l	T	A	19: 46,654,670	I370N	probably damaging	Het
Zfp445	T	C	9: 122,852,981	K632E	probably benign	Het
Zfp850	C	T	7: 27,989,394	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,204,857	L249P	probably damaging	Het

Other mutations in Hspa4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02466:Hspa4l	APN	3	40753225	nonsense	probably null
IGL02605:Hspa4l	APN	3	40781623	missense	probably benign	0.20
IGL02719:Hspa4l	APN	3	40772658	missense	possibly damaging	0.60
R0281:Hspa4l	UTSW	3	40785408	splice site	probably benign
R0398:Hspa4l	UTSW	3	40756997	splice site	probably benign
R0487:Hspa4l	UTSW	3	40784326	missense	possibly damaging	0.87
R0760:Hspa4l	UTSW	3	40784723	nonsense	probably null
R1491:Hspa4l	UTSW	3	40786794	missense	probably benign	0.00
R1720:Hspa4l	UTSW	3	40781617	nonsense	probably null
R1984:Hspa4l	UTSW	3	40760401	missense	probably damaging	1.00
R1986:Hspa4l	UTSW	3	40760401	missense	probably damaging	1.00
R2100:Hspa4l	UTSW	3	40772658	missense	possibly damaging	0.60
R3706:Hspa4l	UTSW	3	40781693	missense	possibly damaging	0.55
R3708:Hspa4l	UTSW	3	40781693	missense	possibly damaging	0.55
R3856:Hspa4l	UTSW	3	40785389	missense	probably benign	0.29
R3874:Hspa4l	UTSW	3	40772642	missense	probably damaging	1.00
R3890:Hspa4l	UTSW	3	40781594	missense	possibly damaging	0.90
R4256:Hspa4l	UTSW	3	40746003	missense	probably benign	0.03
R4364:Hspa4l	UTSW	3	40766809	splice site	probably null
R4365:Hspa4l	UTSW	3	40766809	splice site	probably null
R4366:Hspa4l	UTSW	3	40766809	splice site	probably null
R4493:Hspa4l	UTSW	3	40768002	missense	possibly damaging	0.77
R4494:Hspa4l	UTSW	3	40753204	missense	possibly damaging	0.86
R4954:Hspa4l	UTSW	3	40785400	critical splice donor site	probably null
R4994:Hspa4l	UTSW	3	40745649	utr 5 prime	probably benign
R5114:Hspa4l	UTSW	3	40745765	missense	possibly damaging	0.60
R5133:Hspa4l	UTSW	3	40786747	missense	possibly damaging	0.94
R5202:Hspa4l	UTSW	3	40781569	missense	probably benign	0.17
R5440:Hspa4l	UTSW	3	40781576	missense	probably damaging	1.00
R5635:Hspa4l	UTSW	3	40745745	missense	probably damaging	1.00
R5997:Hspa4l	UTSW	3	40767979	missense	probably damaging	0.99
R6012:Hspa4l	UTSW	3	40781599	missense	probably benign	0.09
R6515:Hspa4l	UTSW	3	40781582	missense	possibly damaging	0.82
R6589:Hspa4l	UTSW	3	40757055	missense	probably damaging	0.99
R7091:Hspa4l	UTSW	3	40781592	missense	probably benign	0.00
R7601:Hspa4l	UTSW	3	40784356	critical splice donor site	probably null
R8072:Hspa4l	UTSW	3	40786746	missense	probably damaging	0.98
R9103:Hspa4l	UTSW	3	40760917	critical splice donor site	probably null
R9146:Hspa4l	UTSW	3	40781669	missense	probably benign	0.15
R9762:Hspa4l	UTSW	3	40772625	missense	probably benign	0.01
Z1088:Hspa4l	UTSW	3	40766993	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCTTCAGTGTTTGCACACATCTC -3'
(R):5'- ACACGGCATCTCAGCAGGATATGG -3'

Sequencing Primer
(F):5'- ATCTCAACCCTGGAGTAGGACTG -3'
(R):5'- CCAAGCACTTGTGAGCTGAG -3'

Posted On

2013-07-11