Mutagenetix > Incidental Mutation

Incidental Mutation 'R0988:Hpn'

97379

Institutional Source

Beutler Lab

Gene Symbol

Hpn

Ensembl Gene

ENSMUSG00000001249

Gene Name

hepsin

Synonyms

Hlb320

MMRRC Submission

039108-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30798150-30814715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30799323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 271 (Y271C)

Ref Sequence

ENSEMBL: ENSMUSP00000131658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039435] [ENSMUST00000108102] [ENSMUST00000165124] [ENSMUST00000168884] [ENSMUST00000171259]

AlphaFold

O35453

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039435
AA Change: Y300C

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038149
Gene: ENSMUSG00000001249
AA Change: Y300C

Domain	Start	End	E-Value	Type
transmembrane domain	46	68	N/A	INTRINSIC
SR	82	179	8.44e-5	SMART
Tryp_SPc	190	428	3.09e-98	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108102
AA Change: Y291C

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249
AA Change: Y291C

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
SR	73	170	8.44e-5	SMART
Tryp_SPc	181	419	3.09e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164340

Predicted Effect

probably benign
Transcript: ENSMUST00000165124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167719

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168884
AA Change: Y271C

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249
AA Change: Y271C

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
SR	53	150	8.44e-5	SMART
Tryp_SPc	161	399	3.09e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171259
AA Change: Y14C

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132307
Gene: ENSMUSG00000001249
AA Change: Y14C

Domain	Start	End	E-Value	Type
Tryp_SPc	1	142	5.41e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171225

Meta Mutation Damage Score

0.1699

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

97% (34/35)

MGI Phenotype

FUNCTION: This gene encodes a type II transmembrane serine protease that may function in diverse processes, including regulation of cell growth. Deficiency in this gene results in hearing loss. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,896,310 (GRCm39)	I340V	probably benign	Het
Ano1	T	G	7: 144,187,390 (GRCm39)	S459R	possibly damaging	Het
Cop1	T	C	1: 159,060,417 (GRCm39)	V67A	possibly damaging	Het
Cop1	A	G	1: 159,072,242 (GRCm39)	Y186C	probably damaging	Het
Cst11	G	A	2: 148,612,346 (GRCm39)	T97I	probably benign	Het
Ephb2	T	A	4: 136,387,019 (GRCm39)	Y736F	possibly damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Kmt2a	A	G	9: 44,759,846 (GRCm39)	S668P	probably benign	Het
Krtap4-9	T	A	11: 99,676,362 (GRCm39)	C94*	probably null	Het
Lgmn	T	C	12: 102,364,536 (GRCm39)	D311G	probably damaging	Het
Macroh2a1	T	C	13: 56,231,109 (GRCm39)		probably null	Het
Mfsd14b	T	C	13: 65,260,307 (GRCm39)		probably benign	Het
Micu1	C	A	10: 59,592,549 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,425,532 (GRCm39)	I4726V	probably benign	Het
Nadk2	T	A	15: 9,103,080 (GRCm39)	N310K	probably damaging	Het
Napg	T	C	18: 63,116,431 (GRCm39)		probably benign	Het
Nav3	G	A	10: 109,552,389 (GRCm39)	R1818W	probably damaging	Het
Ntpcr	T	C	8: 126,464,170 (GRCm39)		probably benign	Het
Or1j13	T	C	2: 36,369,779 (GRCm39)	D121G	probably damaging	Het
Or51af1	T	A	7: 103,141,954 (GRCm39)	I44F	probably damaging	Het
Or5b99	A	G	19: 12,977,151 (GRCm39)	D267G	probably benign	Het
Or6c214	A	G	10: 129,590,866 (GRCm39)	V151A	probably benign	Het
Pdia2	A	G	17: 26,417,803 (GRCm39)	F69L	probably damaging	Het
Pik3r4	A	G	9: 105,564,404 (GRCm39)	T1333A	probably damaging	Het
Platr26	A	T	2: 71,553,631 (GRCm39)		noncoding transcript	Het
Proc	T	C	18: 32,266,536 (GRCm39)	D97G	probably benign	Het
Ptpn23	C	T	9: 110,217,845 (GRCm39)	R700H	probably benign	Het
Rragc	T	A	4: 123,818,575 (GRCm39)		probably null	Het
Serac1	A	T	17: 6,111,855 (GRCm39)	F244I	probably benign	Het
Snrpd3	A	G	10: 75,368,039 (GRCm39)	D52G	probably damaging	Het
Thrb	G	T	14: 17,981,837 (GRCm38)		probably benign	Het
Ttc6	T	C	12: 57,735,435 (GRCm39)		probably benign	Het
Zfp607b	T	A	7: 27,402,401 (GRCm39)	C286S	probably benign	Het

Other mutations in Hpn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Hpn	APN	7	30,802,938 (GRCm39)	missense	possibly damaging	0.51
sweetsoup	UTSW	7	30,799,323 (GRCm39)	missense	possibly damaging	0.76
R0238:Hpn	UTSW	7	30,798,815 (GRCm39)	splice site	probably benign
R0671:Hpn	UTSW	7	30,808,585 (GRCm39)	missense	possibly damaging	0.66
R0747:Hpn	UTSW	7	30,798,971 (GRCm39)	missense	probably damaging	1.00
R0864:Hpn	UTSW	7	30,808,426 (GRCm39)	missense	probably benign
R1892:Hpn	UTSW	7	30,798,468 (GRCm39)	nonsense	probably null
R1893:Hpn	UTSW	7	30,798,773 (GRCm39)	missense	probably damaging	1.00
R4829:Hpn	UTSW	7	30,798,300 (GRCm39)	utr 3 prime	probably benign
R5152:Hpn	UTSW	7	30,799,261 (GRCm39)	missense	probably damaging	0.99
R5338:Hpn	UTSW	7	30,802,781 (GRCm39)	missense	probably benign	0.20
R5664:Hpn	UTSW	7	30,798,687 (GRCm39)	missense	probably damaging	1.00
R7003:Hpn	UTSW	7	30,810,367 (GRCm39)	intron	probably benign
R8235:Hpn	UTSW	7	30,802,208 (GRCm39)	missense	possibly damaging	0.85
R9148:Hpn	UTSW	7	30,802,043 (GRCm39)	missense	probably benign	0.00
R9160:Hpn	UTSW	7	30,808,402 (GRCm39)	missense	probably benign	0.04
X0019:Hpn	UTSW	7	30,798,460 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCCTGTTGGCCTAAGGGGAC -3'
(R):5'- GGGCTGGAGAAAGCCTCATGAC -3'

Sequencing Primer
(F):5'- GGAAACAAGCCCTTTCTCCTG -3'
(R):5'- gaaactttggacagaagacatgg -3'

Posted On

2014-01-05