Mutagenetix > Incidental Mutation

Incidental Mutation 'R5114:Hspa4l'

453537

Institutional Source

Beutler Lab

Gene Symbol

Hspa4l

Ensembl Gene

ENSMUSG00000025757

Gene Name

heat shock protein 4 like

Synonyms

Osp94, APG-1, 94kDa

MMRRC Submission

042702-MU

Accession Numbers

Essential gene?

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

Stock #

R5114 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

40699814-40750538 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40700197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 30 (Y30H)

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: ENSMUST00000108086

SMART Domains

Protein: ENSMUSP00000103721
Gene: ENSMUSG00000025757

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159819
AA Change: Y30H

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124536
Gene: ENSMUSG00000025757
AA Change: Y30H

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	570	1e-180	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203267

Predicted Effect

probably benign
Transcript: ENSMUST00000203353
AA Change: Y30H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144787
Gene: ENSMUSG00000025757
AA Change: Y30H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203496
AA Change: Y30H

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145243
Gene: ENSMUSG00000025757
AA Change: Y30H

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	58	5.4e-16	PFAM
Pfam:HSP70	54	158	9.3e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203904
AA Change: Y30H

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145405
Gene: ENSMUSG00000025757
AA Change: Y30H

Domain	Start	End	E-Value	Type
Pfam:HSP70	3	125	6.1e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204702
AA Change: Y30H

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145468
Gene: ENSMUSG00000025757
AA Change: Y30H

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

Meta Mutation Damage Score

0.1621

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (93/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	A	9: 120,406,693 (GRCm39)		probably benign	Het
Ada	G	A	2: 163,572,406 (GRCm39)	R225C	probably benign	Het
Adamts9	T	C	6: 92,867,254 (GRCm39)	K625R	probably benign	Het
Ano1	T	C	7: 144,210,820 (GRCm39)	I182V	possibly damaging	Het
Aoc1l2	A	T	6: 48,908,292 (GRCm39)	M431L	probably benign	Het
Aox4	T	C	1: 58,285,445 (GRCm39)	V643A	possibly damaging	Het
Arcn1	T	C	9: 44,671,441 (GRCm39)	I29V	probably benign	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Asb10	A	T	5: 24,745,740 (GRCm39)	L62Q	probably damaging	Het
Atp23	T	A	10: 126,723,403 (GRCm39)	H233L	possibly damaging	Het
Bglap2	C	T	3: 88,289,432 (GRCm39)		probably benign	Het
Carnmt1	T	C	19: 18,655,098 (GRCm39)	S84P	probably damaging	Het
Ccdc152	A	G	15: 3,312,319 (GRCm39)	I180T	probably damaging	Het
Cdr2l	T	C	11: 115,284,186 (GRCm39)	F174S	probably damaging	Het
Celsr2	C	T	3: 108,301,312 (GRCm39)	V2695I	probably benign	Het
Chd1	C	A	17: 15,948,460 (GRCm39)	S127R	probably benign	Het
Chmp4c	T	A	3: 10,450,646 (GRCm39)	F75L	probably benign	Het
Col13a1	A	C	10: 61,725,880 (GRCm39)	V260G	possibly damaging	Het
Col5a1	A	G	2: 27,915,664 (GRCm39)	N183D	probably damaging	Het
Cpn1	C	T	19: 43,974,634 (GRCm39)	V32M	probably damaging	Het
Cxcl1	A	G	5: 91,039,373 (GRCm39)	M39V	probably benign	Het
Dpep2	T	A	8: 106,712,825 (GRCm39)	D455V	probably damaging	Het
Dpp7	G	A	2: 25,242,749 (GRCm39)	T441I	possibly damaging	Het
Dst	C	A	1: 34,241,640 (GRCm39)	H4001N	probably damaging	Het
Epg5	G	A	18: 78,038,828 (GRCm39)	A1519T	probably benign	Het
Esrp2	C	T	8: 106,858,820 (GRCm39)	V606I	probably benign	Het
Fbxo40	T	C	16: 36,789,236 (GRCm39)	K625E	probably damaging	Het
Gbp2b	A	T	3: 142,303,946 (GRCm39)	I14F	probably damaging	Het
Gpr37l1	G	T	1: 135,094,676 (GRCm39)	F189L	probably damaging	Het
Heatr5a	G	A	12: 52,003,020 (GRCm39)	Q161*	probably null	Het
Hspg2	G	A	4: 137,239,237 (GRCm39)	C388Y	probably damaging	Het
Kcna1	A	G	6: 126,619,330 (GRCm39)	I330T	probably damaging	Het
Klhl3	T	A	13: 58,166,781 (GRCm39)	Y350F	probably benign	Het
Kntc1	T	C	5: 123,919,118 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,520 (GRCm39)	C109*	probably null	Het
Lrch4	T	C	5: 137,636,179 (GRCm39)	S377P	probably benign	Het
Lrrc8c	C	A	5: 105,755,349 (GRCm39)	H375N	probably damaging	Het
Lsg1	T	C	16: 30,380,538 (GRCm39)	E633G	probably damaging	Het
Mcoln1	T	C	8: 3,560,697 (GRCm39)		probably benign	Het
Med12l	C	A	3: 59,167,109 (GRCm39)	T1523K	possibly damaging	Het
Mrps27	A	T	13: 99,547,973 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,780,717 (GRCm39)	Y158F	probably benign	Het
Nat8l	T	A	5: 34,155,823 (GRCm39)	C160S	probably damaging	Het
Ncf4	T	C	15: 78,146,593 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,994,814 (GRCm39)	Y283N	probably damaging	Het
Or1o3	T	C	17: 37,573,730 (GRCm39)	Y275C	probably damaging	Het
Pak2	T	A	16: 31,861,936 (GRCm39)		probably benign	Het
Pcdhga12	T	C	18: 37,901,160 (GRCm39)	I664T	probably benign	Het
Pcnx2	A	C	8: 126,564,749 (GRCm39)	L1048R	possibly damaging	Het
Pcsk5	T	C	19: 17,652,949 (GRCm39)	M246V	probably damaging	Het
Pkd2l2	T	A	18: 34,566,355 (GRCm39)	V522D	probably benign	Het
Plekhh1	A	T	12: 79,115,880 (GRCm39)	M808L	probably benign	Het
Plpp2	C	A	10: 79,362,973 (GRCm39)	R157L	probably benign	Het
Plrg1	T	A	3: 82,978,558 (GRCm39)	H441Q	probably benign	Het
Pnpla6	T	C	8: 3,572,613 (GRCm39)	V300A	probably damaging	Het
Ptprb	A	T	10: 116,184,088 (GRCm39)	K1633N	possibly damaging	Het
Ralgapa1	A	G	12: 55,659,508 (GRCm39)	V2004A	possibly damaging	Het
Rasd1	G	T	11: 59,854,933 (GRCm39)	S182R	possibly damaging	Het
Rc3h2	A	T	2: 37,288,373 (GRCm39)		probably null	Het
Rrp1b	T	A	17: 32,255,445 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,474,272 (GRCm39)	I425T	probably benign	Het
Shisal1	T	C	15: 84,301,427 (GRCm39)	D72G	probably damaging	Het
Sipa1l1	C	T	12: 82,487,682 (GRCm39)	A1652V	probably benign	Het
Slc12a2	A	G	18: 58,032,344 (GRCm39)	Y348C	probably damaging	Het
Slc14a2	C	A	18: 78,238,963 (GRCm39)	V219L	possibly damaging	Het
Smc1b	G	T	15: 84,949,185 (GRCm39)	P1242Q	probably damaging	Het
Smim33	A	G	18: 35,861,894 (GRCm39)	Y126C	probably damaging	Het
Snx27	T	A	3: 94,431,551 (GRCm39)	D281V	probably damaging	Het
Spem2	C	T	11: 69,707,973 (GRCm39)	V331I	probably benign	Het
Sptb	C	A	12: 76,656,052 (GRCm39)	K1343N	probably damaging	Het
Sult2a8	T	C	7: 14,147,584 (GRCm39)	I236V	probably benign	Het
Syk	A	G	13: 52,765,071 (GRCm39)	E66G	probably damaging	Het
Synm	T	A	7: 67,385,406 (GRCm39)	E310V	probably damaging	Het
Tas2r118	G	A	6: 23,969,209 (GRCm39)	A284V	probably benign	Het
Thoc2l	T	A	5: 104,667,742 (GRCm39)	F755I	probably damaging	Het
Tlr11	A	G	14: 50,600,578 (GRCm39)	N855D	possibly damaging	Het
Tmem230	G	T	2: 132,087,871 (GRCm39)		probably benign	Het
Trappc8	G	A	18: 20,977,237 (GRCm39)	T844I	probably benign	Het
Trmt44	T	C	5: 35,722,812 (GRCm39)	S419G	possibly damaging	Het
Trpv1	T	A	11: 73,132,574 (GRCm39)	V396E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp2	A	G	7: 139,587,354 (GRCm39)	I337T	possibly damaging	Het
Ubr4	T	C	4: 139,137,934 (GRCm39)	I1097T	probably damaging	Het
Vmn2r61	T	C	7: 41,949,953 (GRCm39)	F791S	possibly damaging	Het
Zdhhc2	T	A	8: 40,898,825 (GRCm39)	M45K	probably benign	Het
Zfp383	T	A	7: 29,614,166 (GRCm39)	D140E	probably damaging	Het
Zfp712	C	A	13: 67,189,425 (GRCm39)	K367N	probably damaging	Het
Zfp763	C	T	17: 33,237,949 (GRCm39)	A399T	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
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
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'- AGAGAGTGGGTCCTCTCCTTTG -3'
(R):5'- AGGATAATCCCAGGTCACCC -3'

Sequencing Primer
(F):5'- TGCTTCTCGCAGGAGTCG -3'
(R):5'- TGTCCAGGACGCCATGC -3'

Posted On

2017-02-10