Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4378001:Hyou1'

555002

Institutional Source

Beutler Lab

Gene Symbol

Hyou1

Ensembl Gene

ENSMUSG00000032115

Gene Name

hypoxia up-regulated 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4378001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44290840-44303662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44302148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 968 (D968A)

Ref Sequence

ENSEMBL: ENSMUSP00000068594 (fasta)

Gene Model

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

AlphaFold

Q9JKR6

Predicted Effect

probably benign
Transcript: ENSMUST00000066601
AA Change: D968A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068594
Gene: ENSMUSG00000032115
AA Change: D968A

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
AA Change: D968A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125594
Gene: ENSMUSG00000032115
AA Change: D968A

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: D968A

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123700
Gene: ENSMUSG00000032115
AA Change: D968A

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: 93.1%
3x: 90.8%
10x: 85.0%
20x: 72.2%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	T	C	11: 59,099,802 (GRCm39)	V100A	probably benign	Het
Adamtsl1	T	C	4: 86,117,601 (GRCm39)	V188A	possibly damaging	Het
Aldh6a1	T	C	12: 84,488,646 (GRCm39)	D80G	probably benign	Het
Ankrd50	T	C	3: 38,509,412 (GRCm39)	Q62R	possibly damaging	Het
Aopep	T	C	13: 63,163,021 (GRCm39)	L14P	probably damaging	Het
Arrdc1	T	A	2: 24,816,645 (GRCm39)	Y177F	probably damaging	Het
Asap1	C	T	15: 64,007,697 (GRCm39)	R384Q	probably damaging	Het
Atxn2l	A	T	7: 126,096,443 (GRCm39)	V433D	probably benign	Het
Bbs1	G	A	19: 4,941,703 (GRCm39)	A529V	probably benign	Het
Bbx	G	A	16: 50,100,836 (GRCm39)	R20*	probably null	Het
Bend5	T	C	4: 111,288,304 (GRCm39)	V106A	probably benign	Het
C1galt1	A	G	6: 7,863,944 (GRCm39)	N8S	probably benign	Het
Cdc42ep1	G	A	15: 78,733,880 (GRCm39)	D327N	possibly damaging	Het
Cep162	A	G	9: 87,099,198 (GRCm39)	S767P	probably benign	Het
Cep43	T	C	17: 8,401,105 (GRCm39)	S209P	probably damaging	Het
Csmd1	T	C	8: 15,945,728 (GRCm39)	T3562A	probably damaging	Het
Dnah7a	A	G	1: 53,570,362 (GRCm39)	S1815P	probably damaging	Het
Ei24	A	T	9: 36,697,320 (GRCm39)	L136Q	probably damaging	Het
Extl2	T	G	3: 115,804,339 (GRCm39)	M1R	probably null	Het
Fat3	T	C	9: 16,288,104 (GRCm39)	E473G	probably benign	Het
Fcgbpl1	G	A	7: 27,853,889 (GRCm39)	D1618N	possibly damaging	Het
Fhip1a	A	G	3: 85,637,858 (GRCm39)	L147P	probably damaging	Het
G6pc3	T	A	11: 102,080,827 (GRCm39)	W26R	probably damaging	Het
Hc	T	A	2: 34,921,876 (GRCm39)	Y610F	probably benign	Het
Hecw1	T	C	13: 14,552,368 (GRCm39)	D77G	probably damaging	Het
Hgf	T	C	5: 16,816,860 (GRCm39)	V497A	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,065,692 (GRCm39)	S1525T	probably damaging	Het
Kcnc4	G	A	3: 107,354,879 (GRCm39)	T523I	probably benign	Het
Kcng1	C	T	2: 168,104,604 (GRCm39)	C414Y	probably damaging	Het
Klhdc10	T	C	6: 30,447,411 (GRCm39)	I204T	probably damaging	Het
Krt18	A	T	15: 101,938,358 (GRCm39)	T194S	probably benign	Het
Krt76	A	C	15: 101,800,842 (GRCm39)	N151K	probably damaging	Het
Krtap31-2	A	G	11: 99,827,542 (GRCm39)	T125A	possibly damaging	Het
Lama5	A	G	2: 179,831,238 (GRCm39)	V1807A	possibly damaging	Het
Lats1	T	G	10: 7,581,369 (GRCm39)	V718G	probably damaging	Het
Mef2b	A	G	8: 70,616,910 (GRCm39)	K4E	probably damaging	Het
Mertk	T	C	2: 128,624,537 (GRCm39)		probably null	Het
Mroh8	A	G	2: 157,070,620 (GRCm39)	V577A	possibly damaging	Het
Mtcl1	T	G	17: 66,745,274 (GRCm39)	N381T	probably damaging	Het
Nfyc	T	A	4: 120,647,688 (GRCm39)		probably null	Het
Nol4	C	A	18: 23,172,933 (GRCm39)	W56L	probably damaging	Het
Notch2	A	T	3: 98,050,272 (GRCm39)	D1849V	probably damaging	Het
Or10ad1	G	A	15: 98,105,452 (GRCm39)	T271I	probably damaging	Het
Or10j7	T	C	1: 173,011,381 (GRCm39)	T207A	probably benign	Het
Or14c45	A	T	7: 86,176,306 (GRCm39)	T114S	possibly damaging	Het
Or4n4b	T	C	14: 50,536,355 (GRCm39)	N137S	probably benign	Het
Or5an10	A	G	19: 12,276,076 (GRCm39)	M140T	probably damaging	Het
Or7g28	T	A	9: 19,272,471 (GRCm39)	Y60F	probably damaging	Het
Or8s5	A	G	15: 98,238,153 (GRCm39)	V239A	possibly damaging	Het
Oxr1	G	A	15: 41,664,978 (GRCm39)	V138I	probably benign	Het
Pars2	A	G	4: 106,511,490 (GRCm39)	E424G	possibly damaging	Het
Peli2	C	A	14: 48,405,726 (GRCm39)	Y50*	probably null	Het
Plag1	T	A	4: 3,905,492 (GRCm39)	H66L	probably benign	Het
Psme4	T	C	11: 30,771,079 (GRCm39)		probably benign	Het
Robo1	A	T	16: 72,801,423 (GRCm39)	S1016C	probably damaging	Het
Rrbp1	A	G	2: 143,816,460 (GRCm39)	V723A	probably benign	Het
Sgip1	C	A	4: 102,778,280 (GRCm39)	D292E	unknown	Het
Skint4	T	A	4: 111,944,232 (GRCm39)	C23S	probably benign	Het
Slc22a28	A	C	19: 8,049,279 (GRCm39)	S323R	probably damaging	Het
Slc41a3	A	G	6: 90,617,891 (GRCm39)	T306A	probably benign	Het
Spata13	A	G	14: 60,987,445 (GRCm39)	M868V	probably damaging	Het
Spata6	T	G	4: 111,603,378 (GRCm39)	I31S	possibly damaging	Het
Sycp3	A	T	10: 88,302,366 (GRCm39)	K119*	probably null	Het
Tlk2	T	A	11: 105,172,046 (GRCm39)	S739T	unknown	Het
Trim10	T	C	17: 37,188,020 (GRCm39)	V412A	probably damaging	Het
Ttc3	T	A	16: 94,211,765 (GRCm39)	F377I	probably benign	Het
Uck1	T	A	2: 32,146,046 (GRCm39)	H283L	probably damaging	Het
Unc5a	T	C	13: 55,143,681 (GRCm39)	Y122H	possibly damaging	Het
Uncx	C	T	5: 139,530,377 (GRCm39)	R152*	probably null	Het
Usp44	A	G	10: 93,681,517 (GRCm39)		probably benign	Het
Vamp2	A	C	11: 68,980,564 (GRCm39)	D44A	probably benign	Het
Vmn2r83	A	G	10: 79,304,849 (GRCm39)	T20A	probably benign	Het
Vmn2r84	A	T	10: 130,221,784 (GRCm39)	I812N	probably damaging	Het
Vrtn	T	G	12: 84,695,943 (GRCm39)	L231R	probably damaging	Het
Wdr75	A	G	1: 45,859,333 (GRCm39)	T677A	probably damaging	Het
Xylt1	C	A	7: 117,148,100 (GRCm39)	S221R	possibly damaging	Het
Zscan22	A	G	7: 12,637,983 (GRCm39)	E125G	possibly damaging	Het
Zxdc	A	T	6: 90,350,698 (GRCm39)	H383L	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
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
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'- CTATAGCCCTAGACCAGAGAAATG -3'
(R):5'- TTTGAAGGCCGCTTCTGTC -3'

Sequencing Primer
(F):5'- CAATGCTTAAGAGTTCCGGC -3'
(R):5'- GCTTCTGTCCTGCTGACTG -3'

Posted On

2019-06-07