Mutagenetix > Incidental Mutation

Incidental Mutation 'R1640:Hyou1'

173476

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

039676-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44290840-44303662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 44300703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 924 (T924S)

Ref Sequence

ENSEMBL: ENSMUSP00000123700 (fasta)

Gene Model

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

AlphaFold

Q9JKR6

Predicted Effect

probably benign
Transcript: ENSMUST00000066601
AA Change: T924S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: T924S

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

noncoding transcript
Transcript: ENSMUST00000160112

Predicted Effect

probably benign
Transcript: ENSMUST00000160902
AA Change: T924S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: T924S

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: ENSMUST00000161147

Predicted Effect

probably benign
Transcript: ENSMUST00000161318
AA Change: T924S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: T924S

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

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,566,584 (GRCm39)	V279L	probably damaging	Het
Acot6	A	T	12: 84,147,900 (GRCm39)	Y52F	probably damaging	Het
Adam22	C	T	5: 8,195,689 (GRCm39)	V284I	probably damaging	Het
Agl	A	T	3: 116,545,739 (GRCm39)	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,573,943 (GRCm39)	P27S	probably benign	Het
C1ra	A	G	6: 124,499,233 (GRCm39)	N473S	probably benign	Het
C87436	T	C	6: 86,423,233 (GRCm39)	L269P	probably damaging	Het
Calcrl	A	G	2: 84,164,021 (GRCm39)	V390A	probably damaging	Het
Ccp110	T	G	7: 118,314,751 (GRCm39)		probably null	Het
Cerk	A	G	15: 86,033,601 (GRCm39)	V274A	probably damaging	Het
Chd1l	A	T	3: 97,488,307 (GRCm39)	S570T	probably benign	Het
Chst14	T	A	2: 118,757,379 (GRCm39)	W83R	probably damaging	Het
Chsy1	A	T	7: 65,821,262 (GRCm39)	D499V	probably benign	Het
Ckmt1	C	A	2: 121,190,198 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,496,460 (GRCm39)	V282D	probably damaging	Het
Cntn3	A	T	6: 102,218,974 (GRCm39)	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,702,289 (GRCm39)	D1203V	probably benign	Het
Col4a4	A	G	1: 82,513,491 (GRCm39)	Y169H	unknown	Het
Cwc22	A	G	2: 77,745,874 (GRCm39)	F454S	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs7	A	T	12: 72,699,089 (GRCm39)	W298R	possibly damaging	Het
Dock7	G	T	4: 98,833,483 (GRCm39)	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,449,203 (GRCm39)	T67A	probably benign	Het
Drc1	A	G	5: 30,521,301 (GRCm39)	D654G	possibly damaging	Het
Ech1	A	T	7: 28,531,264 (GRCm39)	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175 (GRCm39)	Q8*	probably null	Het
Etv5	A	T	16: 22,254,664 (GRCm39)	D65E	probably damaging	Het
F2rl3	A	G	8: 73,489,534 (GRCm39)	R254G	probably benign	Het
Fabp5	T	G	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbrs	T	C	7: 127,086,483 (GRCm39)	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,806 (GRCm39)	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,285,634 (GRCm39)	S291A	possibly damaging	Het
Galnt13	A	G	2: 54,950,558 (GRCm39)	Y413C	probably damaging	Het
Gfer	A	G	17: 24,914,337 (GRCm39)	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,764,254 (GRCm39)	H1299R	possibly damaging	Het
Gm10110	T	C	14: 90,135,679 (GRCm39)		noncoding transcript	Het
Gprc5a	T	G	6: 135,055,652 (GRCm39)	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721 (GRCm39)	T121A	probably benign	Het
Grk3	A	G	5: 113,163,248 (GRCm39)	V33A	probably benign	Het
Hc	A	T	2: 34,947,336 (GRCm39)	Y59*	probably null	Het
Hrnr	A	G	3: 93,239,823 (GRCm39)	I3354V	unknown	Het
Ifi209	T	G	1: 173,464,931 (GRCm39)	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,438,171 (GRCm39)	V372A	probably benign	Het
Igdcc4	T	A	9: 65,030,077 (GRCm39)	L328H	probably damaging	Het
Jkampl	A	G	6: 73,445,869 (GRCm39)	Y227H	probably benign	Het
Kif18a	A	G	2: 109,120,161 (GRCm39)	T155A	probably benign	Het
Kmt2d	A	G	15: 98,742,938 (GRCm39)		probably benign	Het
Kri1	T	C	9: 21,191,753 (GRCm39)	D281G	possibly damaging	Het
Larp1b	T	A	3: 40,988,507 (GRCm39)	M1K	probably null	Het
Loxhd1	A	G	18: 77,490,259 (GRCm39)	D1225G	probably damaging	Het
Mzf1	A	G	7: 12,777,197 (GRCm39)	*736Q	probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncf2	T	A	1: 152,683,784 (GRCm39)	M1K	probably null	Het
Or5t15	T	A	2: 86,681,571 (GRCm39)	H157L	probably benign	Het
Or8h10	A	C	2: 86,808,963 (GRCm39)	M59R	probably damaging	Het
Parp12	T	C	6: 39,073,574 (GRCm39)	D417G	probably benign	Het
Parp12	T	C	6: 39,088,612 (GRCm39)	H208R	probably damaging	Het
Pcif1	T	C	2: 164,727,603 (GRCm39)	I132T	probably benign	Het
Pck2	A	G	14: 55,786,041 (GRCm39)	D610G	possibly damaging	Het
Plbd1	T	C	6: 136,617,123 (GRCm39)	K185E	probably benign	Het
Ppp2r5a	T	C	1: 191,086,126 (GRCm39)	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,548,231 (GRCm39)	V805D	probably damaging	Het
Rprd2	C	T	3: 95,671,059 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,178 (GRCm39)	S711P	probably damaging	Het
Slc17a3	T	A	13: 24,036,340 (GRCm39)	L212*	probably null	Het
Slc4a8	A	G	15: 100,681,668 (GRCm39)	D41G	probably benign	Het
Slc9a3	T	A	13: 74,306,937 (GRCm39)	V354E	probably damaging	Het
Spen	A	G	4: 141,196,254 (GRCm39)	I3632T	probably damaging	Het
Tesc	A	G	5: 118,192,914 (GRCm39)	S77G	probably benign	Het
Tet3	A	T	6: 83,346,297 (GRCm39)	V1245D	probably benign	Het
Tox4	T	A	14: 52,530,000 (GRCm39)	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,180,759 (GRCm39)	Y193*	probably null	Het
Trio	T	C	15: 27,833,130 (GRCm39)	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,569,514 (GRCm39)	T1404I	probably benign	Het
Usp47	T	C	7: 111,682,334 (GRCm39)	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,593,548 (GRCm39)	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,348 (GRCm39)	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,824,097 (GRCm39)	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,242,806 (GRCm39)		probably null	Het
Zfp503	A	T	14: 22,034,969 (GRCm39)	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,229,530 (GRCm39)	C332G	probably damaging	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
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
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'- GATGAGAGTGAAGCTGCCACATCC -3'
(R):5'- TCTTCAGTCTGGCCTAGAGGGAAAC -3'

Sequencing Primer
(F):5'- AGTTCTGAGTCTTCTGGCTTC -3'
(R):5'- CCAAAAGTTAGATGCAGTCCTACG -3'

Posted On

2014-04-24