Mutagenetix > Incidental Mutation

Incidental Mutation 'R9352:Hyou1'

708144

Institutional Source

Beutler Lab

Gene Symbol

Hyou1

Ensembl Gene

ENSMUSG00000032115

Gene Name

hypoxia up-regulated 1

Synonyms

140 kDa, Orp150, Cab140, Grp170, CBP-140

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9352 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44290840-44303662 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 44300926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066601] [ENSMUST00000066601] [ENSMUST00000066601] [ENSMUST00000160902] [ENSMUST00000161318] [ENSMUST00000162560]

AlphaFold

Q9JKR6

Predicted Effect

probably null
Transcript: ENSMUST00000066601

SMART Domains

Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:HSP70	35	669	1.3e-101	PFAM
Pfam:HSP70	690	814	2.1e-6	PFAM
low complexity region	970	986	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000066601

SMART Domains

Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:HSP70	35	669	1.3e-101	PFAM
Pfam:HSP70	690	814	2.1e-6	PFAM
low complexity region	970	986	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000066601

SMART Domains

Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:HSP70	35	669	1.3e-101	PFAM
Pfam:HSP70	690	814	2.1e-6	PFAM
low complexity region	970	986	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160902

SMART Domains

Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:HSP70	35	671	3.8e-101	PFAM
Pfam:HSP70	690	814	1.2e-6	PFAM
low complexity region	970	986	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161318

SMART Domains

Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:HSP70	35	671	3.8e-101	PFAM
Pfam:HSP70	690	814	1.2e-6	PFAM
low complexity region	970	986	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162560

SMART Domains

Protein: ENSMUSP00000123749
Gene: ENSMUSG00000032115

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:HSP70	35	168	6.5e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5' UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous mice display increased susceptibility to induced neuronal cell death. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Gene trapped(5)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	T	7: 82,091,656 (GRCm39)	Q123L	probably damaging	Het
Adarb2	T	A	13: 8,807,428 (GRCm39)	L743Q	probably damaging	Het
Alpk2	C	A	18: 65,439,783 (GRCm39)	D537Y	probably benign	Het
Anxa4	C	T	6: 86,742,775 (GRCm39)		probably benign	Het
Arfgap3	T	A	15: 83,191,127 (GRCm39)	I464L	possibly damaging	Het
Asb2	C	T	12: 103,296,698 (GRCm39)	V320I	probably damaging	Het
Axl	T	C	7: 25,462,752 (GRCm39)	T659A	possibly damaging	Het
Bbof1	A	G	12: 84,461,394 (GRCm39)	H139R	probably benign	Het
Birc6	G	A	17: 74,965,347 (GRCm39)		probably null	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Chil3	A	T	3: 106,067,787 (GRCm39)	F126Y	probably damaging	Het
Chrnb4	T	A	9: 54,951,167 (GRCm39)	D32V	probably benign	Het
Chst15	C	A	7: 131,872,257 (GRCm39)	C8F	probably damaging	Het
Cntnap5c	A	G	17: 58,399,463 (GRCm39)	I439V	probably benign	Het
Crisp2	T	A	17: 41,078,200 (GRCm39)	N194I	probably damaging	Het
Csrnp1	G	A	9: 119,801,997 (GRCm39)	T354M	probably benign	Het
Cul1	T	A	6: 47,479,426 (GRCm39)	S231T	probably benign	Het
Cyp27a1	C	T	1: 74,752,920 (GRCm39)	T44M	possibly damaging	Het
Dgkg	T	C	16: 22,398,581 (GRCm39)	D232G	probably damaging	Het
Dnah1	G	T	14: 31,038,620 (GRCm39)	Q154K	probably benign	Het
Dnmt1	A	G	9: 20,840,384 (GRCm39)	V304A	probably benign	Het
Dok6	T	C	18: 89,492,133 (GRCm39)	N148S	probably benign	Het
Fnta	A	T	8: 26,501,119 (GRCm39)	W134R	probably damaging	Het
Garin5b	T	A	7: 4,761,605 (GRCm39)	Y369F		Het
Gm32742	T	G	9: 51,052,544 (GRCm39)	Q1441P	possibly damaging	Het
Gm3486	T	C	14: 41,208,318 (GRCm39)	Q131R	possibly damaging	Het
Gnptab	A	G	10: 88,268,350 (GRCm39)	N486D	probably benign	Het
H2-Q4	T	G	17: 35,601,909 (GRCm39)	F257C	probably damaging	Het
Hfe	A	G	13: 23,890,119 (GRCm39)	V218A	probably benign	Het
Htr2b	A	G	1: 86,027,294 (GRCm39)	V404A	probably benign	Het
Ikbkb	T	C	8: 23,150,444 (GRCm39)	D746G	probably benign	Het
Ikzf4	T	C	10: 128,472,623 (GRCm39)	N251S	probably benign	Het
Il23r	A	C	6: 67,403,592 (GRCm39)	N436K	probably damaging	Het
Impg2	A	T	16: 56,072,470 (GRCm39)	I301L	probably benign	Het
Irf4	A	T	13: 30,936,706 (GRCm39)	M146L	probably benign	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kctd3	T	C	1: 188,704,777 (GRCm39)	S665G	probably damaging	Het
Kiz	T	C	2: 146,794,927 (GRCm39)	S596P	probably damaging	Het
Kpna2	T	C	11: 106,880,292 (GRCm39)	E452G	probably damaging	Het
Lclat1	A	G	17: 73,468,937 (GRCm39)	Y39C	probably damaging	Het
Lig3	A	G	11: 82,686,971 (GRCm39)	S705G	probably benign	Het
Lrp1b	T	C	2: 40,748,438 (GRCm39)	D3134G		Het
Map3k8	C	T	18: 4,349,170 (GRCm39)	M49I	probably benign	Het
Mep1b	A	G	18: 21,209,431 (GRCm39)	D54G	probably damaging	Het
Mgat5b	T	A	11: 116,857,533 (GRCm39)	S342R	probably benign	Het
Mthfd2l	G	T	5: 91,109,172 (GRCm39)	V201L	possibly damaging	Het
Naip6	G	T	13: 100,437,893 (GRCm39)	T371K	possibly damaging	Het
Naxd	T	C	8: 11,555,504 (GRCm39)	I104T	probably damaging	Het
Nbeal2	T	A	9: 110,456,916 (GRCm39)	I2361F	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e17	A	G	11: 73,831,470 (GRCm39)	T133A	probably benign	Het
Or6c75	A	T	10: 129,337,364 (GRCm39)	M196L	probably benign	Het
Or8b8	A	G	9: 37,808,712 (GRCm39)	E4G	probably benign	Het
Or8c16	T	G	9: 38,130,683 (GRCm39)	L185R	probably damaging	Het
Pga5	C	T	19: 10,646,897 (GRCm39)	G303S	probably damaging	Het
Polq	T	C	16: 36,862,252 (GRCm39)	F591L	probably damaging	Het
Ppp2r1a	A	T	17: 21,185,499 (GRCm39)		probably null	Het
Prrc1	A	G	18: 57,522,317 (GRCm39)	Y383C	probably damaging	Het
Ptgfr	A	T	3: 151,541,160 (GRCm39)	V116D	probably damaging	Het
Qpctl	C	T	7: 18,878,599 (GRCm39)	R292Q	possibly damaging	Het
Rasip1	G	A	7: 45,278,280 (GRCm39)	V194M	possibly damaging	Het
Rbbp4	A	T	4: 129,211,498 (GRCm39)	N385K	probably benign	Het
Rbbp8nl	A	G	2: 179,921,053 (GRCm39)	S444P	probably benign	Het
Resf1	T	C	6: 149,236,180 (GRCm39)	F1500S	probably damaging	Het
Sf3a1	G	A	11: 4,110,494 (GRCm39)	A3T	unknown	Het
Slc1a4	A	G	11: 20,282,025 (GRCm39)	S150P	probably damaging	Het
Slc28a2	T	C	2: 122,281,522 (GRCm39)		probably null	Het
Slc30a5	A	G	13: 100,940,380 (GRCm39)	I702T	probably benign	Het
Slc36a4	T	A	9: 15,633,319 (GRCm39)		probably null	Het
Slf2	A	G	19: 44,931,957 (GRCm39)	R671G	probably null	Het
Smarcc1	A	G	9: 110,035,220 (GRCm39)	K881R	probably null	Het
Srsf11	A	G	3: 157,717,836 (GRCm39)	V414A	unknown	Het
Tcn2	T	C	11: 3,873,446 (GRCm39)	N300S	probably damaging	Het
Tecta	T	C	9: 42,249,147 (GRCm39)	K1905R	probably damaging	Het
Tex30	T	G	1: 44,130,753 (GRCm39)		probably null	Het
Tktl2	A	T	8: 66,965,974 (GRCm39)	I511F	possibly damaging	Het
Tpp1	G	T	7: 105,398,881 (GRCm39)	Q183K	probably benign	Het
Trib2	A	C	12: 15,865,413 (GRCm39)	I30R	probably benign	Het
Tti1	A	G	2: 157,842,692 (GRCm39)	L779P	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	GAGCCA	GAGCCATAGCCA	4: 43,177,313 (GRCm39)		probably null	Het
Vmn2r112	A	G	17: 22,822,479 (GRCm39)	T386A	probably damaging	Het
Vps16	T	C	2: 130,283,823 (GRCm39)		probably null	Het
Zan	T	G	5: 137,434,745 (GRCm39)	N2186T	unknown	Het
Zdhhc11	C	T	13: 74,121,800 (GRCm39)	R104*	probably null	Het
Zfp318	T	G	17: 46,721,284 (GRCm39)	H1176Q	probably damaging	Het
Zfp335	G	A	2: 164,742,242 (GRCm39)	H581Y	probably damaging	Het
Zfp7	T	C	15: 76,775,674 (GRCm39)	I572T	probably damaging	Het
Zfp955a	T	C	17: 33,461,335 (GRCm39)	T266A	probably benign	Het

Other mutations in Hyou1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Hyou1	APN	9	44,296,443 (GRCm39)	missense	probably benign	0.02
IGL01660:Hyou1	APN	9	44,292,414 (GRCm39)	missense	possibly damaging	0.75
IGL01677:Hyou1	APN	9	44,293,309 (GRCm39)	missense	probably benign	0.21
IGL01903:Hyou1	APN	9	44,292,438 (GRCm39)	splice site	probably benign
IGL02636:Hyou1	APN	9	44,292,707 (GRCm39)	critical splice donor site	probably null
IGL02806:Hyou1	APN	9	44,300,180 (GRCm39)	nonsense	probably null
IGL03401:Hyou1	APN	9	44,296,206 (GRCm39)	missense	probably damaging	1.00
IGL03410:Hyou1	APN	9	44,299,355 (GRCm39)	missense	probably benign
ANU74:Hyou1	UTSW	9	44,292,560 (GRCm39)	missense	possibly damaging	0.79
D3080:Hyou1	UTSW	9	44,295,774 (GRCm39)	missense	probably damaging	0.97
PIT4378001:Hyou1	UTSW	9	44,302,148 (GRCm39)	missense	probably benign	0.26
R0408:Hyou1	UTSW	9	44,295,989 (GRCm39)	missense	probably damaging	1.00
R0422:Hyou1	UTSW	9	44,300,539 (GRCm39)	missense	probably damaging	1.00
R1116:Hyou1	UTSW	9	44,295,978 (GRCm39)	missense	probably damaging	1.00
R1581:Hyou1	UTSW	9	44,300,167 (GRCm39)	missense	probably damaging	1.00
R1640:Hyou1	UTSW	9	44,300,703 (GRCm39)	missense	probably benign	0.02
R1803:Hyou1	UTSW	9	44,295,479 (GRCm39)	nonsense	probably null
R2060:Hyou1	UTSW	9	44,292,849 (GRCm39)	missense	probably benign	0.28
R2180:Hyou1	UTSW	9	44,299,316 (GRCm39)	missense	probably benign	0.30
R2233:Hyou1	UTSW	9	44,300,388 (GRCm39)	missense	probably benign	0.44
R2235:Hyou1	UTSW	9	44,300,388 (GRCm39)	missense	probably benign	0.44
R3950:Hyou1	UTSW	9	44,296,524 (GRCm39)	missense	probably damaging	1.00
R4198:Hyou1	UTSW	9	44,300,156 (GRCm39)	missense	probably damaging	1.00
R4200:Hyou1	UTSW	9	44,300,156 (GRCm39)	missense	probably damaging	1.00
R4363:Hyou1	UTSW	9	44,291,912 (GRCm39)	splice site	probably null
R4393:Hyou1	UTSW	9	44,293,169 (GRCm39)	missense	probably damaging	1.00
R4394:Hyou1	UTSW	9	44,293,169 (GRCm39)	missense	probably damaging	1.00
R4812:Hyou1	UTSW	9	44,298,418 (GRCm39)	intron	probably benign
R5239:Hyou1	UTSW	9	44,296,560 (GRCm39)	missense	possibly damaging	0.96
R5648:Hyou1	UTSW	9	44,296,546 (GRCm39)	missense	probably damaging	0.99
R5818:Hyou1	UTSW	9	44,300,223 (GRCm39)	critical splice donor site	probably null
R5856:Hyou1	UTSW	9	44,292,641 (GRCm39)	missense	probably damaging	1.00
R6431:Hyou1	UTSW	9	44,293,322 (GRCm39)	critical splice donor site	probably null
R6594:Hyou1	UTSW	9	44,300,619 (GRCm39)	missense	probably benign
R6596:Hyou1	UTSW	9	44,299,052 (GRCm39)	missense	probably benign	0.00
R6613:Hyou1	UTSW	9	44,293,795 (GRCm39)	missense	probably damaging	0.99
R6704:Hyou1	UTSW	9	44,292,431 (GRCm39)	critical splice donor site	probably null
R6849:Hyou1	UTSW	9	44,298,561 (GRCm39)	missense	probably damaging	0.99
R7494:Hyou1	UTSW	9	44,300,706 (GRCm39)	missense	probably benign	0.04
R7632:Hyou1	UTSW	9	44,292,433 (GRCm39)	splice site	probably null
R7711:Hyou1	UTSW	9	44,295,759 (GRCm39)	missense	possibly damaging	0.91
R8064:Hyou1	UTSW	9	44,296,882 (GRCm39)	missense	possibly damaging	0.80
R8287:Hyou1	UTSW	9	44,299,430 (GRCm39)	missense	probably benign	0.26
R9385:Hyou1	UTSW	9	44,292,812 (GRCm39)	missense	probably benign	0.06
X0027:Hyou1	UTSW	9	44,302,153 (GRCm39)	missense	possibly damaging	0.89
Z1176:Hyou1	UTSW	9	44,299,039 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGGAGAAGGTCATTCCACCTG -3'
(R):5'- TGCTGGGGATCTCAACTCTTAG -3'

Sequencing Primer
(F):5'- CCTGCAGGTGAGGAGAGATGC -3'
(R):5'- CTTAGCCTCACACTGTGCAATTAAG -3'

Posted On

2022-04-18