Mutagenetix > Incidental Mutation

Incidental Mutation 'R2060:Hyou1'

228624

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

040065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2060 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44290840-44303662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44292849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 153 (V153A)

Ref Sequence

ENSEMBL: ENSMUSP00000148882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066601] [ENSMUST00000159473] [ENSMUST00000160902] [ENSMUST00000161318] [ENSMUST00000162560] [ENSMUST00000217019]

AlphaFold

Q9JKR6

Predicted Effect

probably benign
Transcript: ENSMUST00000066601
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: V153A

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: ENSMUST00000159473
AA Change: V102A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124177
Gene: ENSMUSG00000032115
AA Change: V102A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:HSP70	38	226	2e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160112

Predicted Effect

probably benign
Transcript: ENSMUST00000160902
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: V153A

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
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: V153A

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

noncoding transcript
Transcript: ENSMUST00000161537

Predicted Effect

probably benign
Transcript: ENSMUST00000162560
AA Change: V153A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000123749
Gene: ENSMUSG00000032115
AA Change: V153A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217019
AA Change: V153A

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217460

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,826,741 (GRCm39)	W462*	probably null	Het
Aftph	A	T	11: 20,642,571 (GRCm39)	Y821N	probably damaging	Het
Ahnak	A	T	19: 8,985,405 (GRCm39)	M2230L	probably benign	Het
Arfgap1	T	C	2: 180,614,575 (GRCm39)	F144L	probably benign	Het
Arid4b	C	T	13: 14,370,037 (GRCm39)	R1178C	probably damaging	Het
Asb8	A	T	15: 98,039,254 (GRCm39)	C49S	possibly damaging	Het
Baz1b	A	G	5: 135,233,968 (GRCm39)	N165S	probably damaging	Het
Bod1l	A	T	5: 41,966,085 (GRCm39)	I2660N	possibly damaging	Het
C2cd3	T	C	7: 100,104,155 (GRCm39)	I825T	probably damaging	Het
C4b	A	G	17: 34,955,075 (GRCm39)	W804R	probably damaging	Het
Cadm3	A	T	1: 173,171,969 (GRCm39)	D201E	probably damaging	Het
Cdh17	T	C	4: 11,803,982 (GRCm39)	F552L	probably benign	Het
Cdh20	G	C	1: 109,976,607 (GRCm39)	A91P	probably damaging	Het
Cela1	A	G	15: 100,573,203 (GRCm39)		probably null	Het
Clk3	T	C	9: 57,658,400 (GRCm39)	Y582C	probably damaging	Het
Cma1	C	T	14: 56,181,155 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,299 (GRCm39)	S95P	probably benign	Het
Cylc1	C	A	X: 110,166,892 (GRCm39)	T391K	unknown	Het
Cyp3a11	T	A	5: 145,791,891 (GRCm39)	I501L	probably benign	Het
Cyp3a59	T	A	5: 146,041,524 (GRCm39)	L356Q	probably damaging	Het
Dcdc2a	A	C	13: 25,291,693 (GRCm39)	D226A	possibly damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dlec1	A	C	9: 118,941,154 (GRCm39)	T235P	probably damaging	Het
Dnaaf1	G	A	8: 120,317,341 (GRCm39)	R290Q	probably benign	Het
Dnaaf5	C	T	5: 139,163,758 (GRCm39)	R377W	probably damaging	Het
Dpep1	T	A	8: 123,927,130 (GRCm39)	V293E	probably damaging	Het
Drosha	T	A	15: 12,924,245 (GRCm39)	V1209E	possibly damaging	Het
Dync2h1	T	G	9: 7,162,802 (GRCm39)	I596L	possibly damaging	Het
Edem1	T	A	6: 108,831,248 (GRCm39)	Y570N	probably damaging	Het
Edrf1	G	T	7: 133,258,858 (GRCm39)	E9*	probably null	Het
Enpep	T	A	3: 129,074,172 (GRCm39)	N792Y	probably benign	Het
Enpp2	A	T	15: 54,739,110 (GRCm39)	M391K	probably damaging	Het
Fanca	A	C	8: 124,001,220 (GRCm39)	V1105G	probably damaging	Het
Fbxo22	T	A	9: 55,125,667 (GRCm39)	L74I	probably damaging	Het
Fchsd2	T	A	7: 100,926,624 (GRCm39)	F571L	probably benign	Het
Fhad1	T	C	4: 141,626,560 (GRCm39)	D1345G	probably benign	Het
G2e3	T	C	12: 51,419,389 (GRCm39)	F702L	probably damaging	Het
Glce	A	T	9: 61,968,228 (GRCm39)	S308T	possibly damaging	Het
Glt1d1	A	G	5: 127,734,183 (GRCm39)	D119G	probably benign	Het
Gpr137c	T	C	14: 45,481,616 (GRCm39)	I144T	probably damaging	Het
Gprin3	A	G	6: 59,331,504 (GRCm39)	C268R	possibly damaging	Het
Hadha	G	A	5: 30,333,834 (GRCm39)	T395M	probably benign	Het
Hdhd2	T	G	18: 77,052,738 (GRCm39)		probably null	Het
Homer2	C	T	7: 81,268,451 (GRCm39)	E70K	probably benign	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Hrh3	T	C	2: 179,743,043 (GRCm39)	N195S	possibly damaging	Het
Igf2r	A	T	17: 12,920,206 (GRCm39)	S1378T	possibly damaging	Het
Ints4	G	A	7: 97,150,970 (GRCm39)	R279H	possibly damaging	Het
Itga10	A	T	3: 96,562,314 (GRCm39)	R699*	probably null	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Itsn2	T	G	12: 4,677,879 (GRCm39)	F79V	probably damaging	Het
Jak3	C	A	8: 72,133,358 (GRCm39)	C350*	probably null	Het
Jak3	A	T	8: 72,136,059 (GRCm39)	K620*	probably null	Het
Kcnq5	T	C	1: 21,531,821 (GRCm39)	S421G	probably benign	Het
Kdm2b	A	T	5: 123,021,428 (GRCm39)	M50K	probably damaging	Het
Klk1b1	A	G	7: 43,620,047 (GRCm39)	D170G	possibly damaging	Het
Lama3	A	T	18: 12,661,783 (GRCm39)	T2160S	probably benign	Het
Lman1	A	T	18: 66,131,423 (GRCm39)		probably benign	Het
Lmtk3	G	A	7: 45,450,335 (GRCm39)		probably null	Het
Ltb	A	G	17: 35,414,739 (GRCm39)	R180G	probably damaging	Het
Ltbp4	C	T	7: 27,008,378 (GRCm39)	R1310Q	probably damaging	Het
Macf1	T	A	4: 123,393,712 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,875,354 (GRCm39)	P1146Q	probably damaging	Het
Micall2	C	T	5: 139,697,317 (GRCm39)	S678N	probably damaging	Het
Mon2	A	T	10: 122,831,681 (GRCm39)	I1675N	probably damaging	Het
Mug2	A	G	6: 122,056,571 (GRCm39)	N1172S	probably benign	Het
Naa30	C	G	14: 49,410,556 (GRCm39)	S161R	possibly damaging	Het
Ncaph	T	C	2: 126,966,795 (GRCm39)	N220D	probably damaging	Het
Nell1	T	C	7: 50,210,578 (GRCm39)	V497A	possibly damaging	Het
Ngly1	A	G	14: 16,277,877 (GRCm38)	N142S	possibly damaging	Het
Nin	T	A	12: 70,089,192 (GRCm39)	T1408S	possibly damaging	Het
Nlrp4g	T	A	9: 124,349,693 (GRCm38)		noncoding transcript	Het
Nrg1	T	G	8: 32,408,043 (GRCm39)	E63D	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j7	A	G	17: 38,234,771 (GRCm39)	T105A	probably benign	Het
Or5d39	T	C	2: 87,979,487 (GRCm39)	Y292C	probably damaging	Het
Or5g29	G	A	2: 85,421,627 (GRCm39)	V248I	possibly damaging	Het
Or5p53	C	T	7: 107,532,868 (GRCm39)	T47M	probably benign	Het
Or6ae1	T	A	7: 139,742,737 (GRCm39)	E42V	probably damaging	Het
Or7d11	A	T	9: 19,965,892 (GRCm39)	I289N	probably damaging	Het
Or7g27	A	G	9: 19,250,352 (GRCm39)	I199V	probably benign	Het
Or7g32	T	A	9: 19,408,533 (GRCm39)	V163E	possibly damaging	Het
Orc5	C	T	5: 22,721,701 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,125,085 (GRCm39)	R691Q	probably benign	Het
Pofut1	T	A	2: 153,085,580 (GRCm39)	D54E	probably benign	Het
Prl2c5	T	A	13: 13,365,238 (GRCm39)	V128E	probably damaging	Het
Ptk7	T	C	17: 46,877,164 (GRCm39)	M965V	possibly damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Pzp	A	T	6: 128,460,673 (GRCm39)	N1494K	probably benign	Het
Rad21l	A	G	2: 151,487,349 (GRCm39)	V545A	probably benign	Het
Rps6kc1	A	T	1: 190,542,305 (GRCm39)	M352K	possibly damaging	Het
Rpusd2	G	A	2: 118,867,696 (GRCm39)		probably null	Het
Rsph14	A	T	10: 74,865,603 (GRCm39)	D78E	probably damaging	Het
Rtl9	A	T	X: 141,885,026 (GRCm39)	M813L	possibly damaging	Het
Rtp4	A	T	16: 23,431,690 (GRCm39)	H74L	probably damaging	Het
Rusc1	G	A	3: 88,995,155 (GRCm39)	T725I	possibly damaging	Het
Rusf1	A	G	7: 127,887,503 (GRCm39)	L176P	probably damaging	Het
Ryr2	C	T	13: 11,610,622 (GRCm39)	C4068Y	probably damaging	Het
Ryr3	A	G	2: 112,784,709 (GRCm39)	V224A	possibly damaging	Het
Shprh	A	T	10: 11,027,864 (GRCm39)	N157I	probably benign	Het
Siglece	A	G	7: 43,307,210 (GRCm39)	I67T	probably benign	Het
Slc9b2	A	T	3: 135,032,027 (GRCm39)	T296S	probably damaging	Het
Sorbs2	A	G	8: 46,228,666 (GRCm39)	K276E	probably damaging	Het
Synj2	A	G	17: 6,087,755 (GRCm39)	T1269A	probably benign	Het
Taar7b	T	C	10: 23,876,573 (GRCm39)	I246T	possibly damaging	Het
Taldo1	A	G	7: 140,976,067 (GRCm39)	Y113C	probably damaging	Het
Tarbp1	A	T	8: 127,174,333 (GRCm39)		probably null	Het
Tars1	C	T	15: 11,394,459 (GRCm39)	M59I	probably benign	Het
Tas2r130	G	A	6: 131,607,780 (GRCm39)	T5I	probably benign	Het
Tex48	T	C	4: 63,525,652 (GRCm39)	E77G	probably damaging	Het
Tmco5	A	G	2: 116,722,736 (GRCm39)	R286G	probably damaging	Het
Trdmt1	A	T	2: 13,524,725 (GRCm39)	H243Q	probably benign	Het
Ttn	T	A	2: 76,564,638 (GRCm39)	R26754*	probably null	Het
Ttn	G	A	2: 76,727,924 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,791,358 (GRCm39)	L244R	probably damaging	Het
Ubxn1	C	T	19: 8,850,930 (GRCm39)	R115*	probably null	Het
Umod	T	G	7: 119,075,938 (GRCm39)	N276T	probably damaging	Het
Unc13c	A	T	9: 73,572,938 (GRCm39)	L1528Q	probably damaging	Het
Unc80	T	A	1: 66,679,754 (GRCm39)	H2108Q	possibly damaging	Het
Utp20	A	C	10: 88,610,657 (GRCm39)	D1442E	probably damaging	Het
Utp4	A	G	8: 107,625,153 (GRCm39)	Q144R	probably benign	Het
Vmn2r17	T	A	5: 109,575,075 (GRCm39)	N127K	probably benign	Het
Vmn2r75	T	A	7: 85,814,372 (GRCm39)	T374S	probably benign	Het
Washc5	A	G	15: 59,222,257 (GRCm39)	F523L	probably damaging	Het
Wdr3	A	T	3: 100,067,213 (GRCm39)		probably null	Het
Wdr89	T	C	12: 75,679,762 (GRCm39)	Y164C	probably damaging	Het
Xpo5	T	C	17: 46,536,017 (GRCm39)	S550P	probably damaging	Het
Zfp69	T	C	4: 120,788,029 (GRCm39)	T429A	probably damaging	Het
Zfpm1	G	T	8: 123,063,331 (GRCm39)	G797C	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
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
R9352:Hyou1	UTSW	9	44,300,926 (GRCm39)	critical splice donor site	probably null
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'- ACTGTGCGCTTCCAGATCAG -3'
(R):5'- GACCAGGATGTCCAACACAG -3'

Sequencing Primer
(F):5'- CTTCCAGATCAGTCCGTGAGTG -3'
(R):5'- AGTACCACTGACTCTTACCGGG -3'

Posted On

2014-09-17