Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Serpinh1'

64458

Institutional Source

Beutler Lab

Gene Symbol

Serpinh1

Ensembl Gene

ENSMUSG00000070436

Gene Name

serine (or cysteine) peptidase inhibitor, clade H, member 1

Synonyms

Serpinh2, Hsp47, colligin, J6, Cbp1, Cbp2, gp46

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0070 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

98994583-99002321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98998521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 36 (S36R)

Ref Sequence

ENSEMBL: ENSMUSP00000146515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094154] [ENSMUST00000169437] [ENSMUST00000207849] [ENSMUST00000207989] [ENSMUST00000208119] [ENSMUST00000208292] [ENSMUST00000208749]

AlphaFold

P19324

Predicted Effect

probably damaging
Transcript: ENSMUST00000094154
AA Change: S36R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: S36R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	51	408	6.88e-137	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169437
AA Change: S36R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: S36R

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
SERPIN	51	408	6.88e-137	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207849
AA Change: S36R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207989
AA Change: S36R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208119
AA Change: S36R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000208292
AA Change: S36R

Predicted Effect

probably damaging
Transcript: ENSMUST00000208749
AA Change: S36R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. Mice homozygous for a conditional allele activated in chondrocytes exhibit complete perinatal lethality, cleft palate, respiratory distress, abnormal chondocytes and bone formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,109,154 (GRCm39)	I387T	probably damaging	Het
Alpi	A	G	1: 87,028,881 (GRCm39)		probably benign	Het
Ankfn1	A	T	11: 89,283,128 (GRCm39)	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,046,624 (GRCm39)	E892G	probably benign	Het
AU018091	T	C	7: 3,208,738 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,551 (GRCm39)		probably benign	Het
Capn2	C	A	1: 182,301,434 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,202,744 (GRCm39)		probably benign	Het
Cdh20	C	T	1: 110,026,102 (GRCm39)	A446V	probably benign	Het
Ciapin1	T	C	8: 95,551,847 (GRCm39)	N246S	possibly damaging	Het
Cmip	T	A	8: 118,153,293 (GRCm39)	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah9	A	G	11: 66,050,866 (GRCm39)	V142A	probably benign	Het
Dnai4	A	T	4: 102,917,131 (GRCm39)	I571K	probably damaging	Het
Flt3	A	G	5: 147,309,536 (GRCm39)		probably benign	Het
Gm10238	A	G	15: 75,109,434 (GRCm39)		noncoding transcript	Het
Gm4787	T	A	12: 81,425,840 (GRCm39)	D106V	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hycc1	T	C	5: 24,169,997 (GRCm39)	S451G	probably damaging	Het
Ifna11	A	G	4: 88,738,512 (GRCm39)	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,138,402 (GRCm39)	V2I	probably benign	Het
Itga6	T	C	2: 71,657,060 (GRCm39)		probably benign	Het
Kcnj6	C	A	16: 94,742,056 (GRCm39)	K5N	probably benign	Het
Kcnt1	T	C	2: 25,782,374 (GRCm39)	V191A	probably benign	Het
Lcorl	G	A	5: 45,891,043 (GRCm39)	R437C	probably damaging	Het
Man2a1	G	A	17: 64,966,074 (GRCm39)		probably null	Het
Map3k14	T	A	11: 103,130,380 (GRCm39)		probably null	Het
Mtch1	T	A	17: 29,559,033 (GRCm39)		probably benign	Het
Myo1c	A	G	11: 75,551,076 (GRCm39)	N217S	probably benign	Het
Or2h15	A	G	17: 38,441,780 (GRCm39)	L101P	probably damaging	Het
Or2w4	T	C	13: 21,795,431 (GRCm39)	K236R	possibly damaging	Het
Orm3	A	G	4: 63,274,883 (GRCm39)	T64A	probably benign	Het
Phf20l1	T	G	15: 66,511,840 (GRCm39)	W940G	probably damaging	Het
Phldb1	C	T	9: 44,619,201 (GRCm39)	R844H	probably damaging	Het
Piezo2	T	C	18: 63,235,155 (GRCm39)	D814G	probably damaging	Het
Pkd2	T	C	5: 104,614,856 (GRCm39)	C233R	probably damaging	Het
Prkd3	A	G	17: 79,261,939 (GRCm39)	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,556,618 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,032,726 (GRCm39)	L146S	probably damaging	Het
Rnf32	A	G	5: 29,430,125 (GRCm39)	T315A	probably benign	Het
Rpl5	T	C	5: 108,049,766 (GRCm39)	Y12H	probably benign	Het
Setx	A	T	2: 29,051,537 (GRCm39)	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,608,748 (GRCm39)	V21I	probably benign	Het
Sin3b	T	A	8: 73,452,210 (GRCm39)	H105Q	probably damaging	Het
Slitrk1	T	C	14: 109,150,749 (GRCm39)		probably benign	Het
Slx4	A	T	16: 3,805,880 (GRCm39)	D557E	possibly damaging	Het
Sprr3	C	T	3: 92,364,609 (GRCm39)	M78I	probably benign	Het
Ssmem1	A	G	6: 30,519,420 (GRCm39)	E35G	possibly damaging	Het
Stag1	C	T	9: 100,838,461 (GRCm39)	P1238S	probably null	Het
Stra6	C	T	9: 58,059,898 (GRCm39)		probably benign	Het
Tmem127	T	C	2: 127,098,979 (GRCm39)	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,335,742 (GRCm39)		probably null	Het
Top2a	C	G	11: 98,905,886 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,644,771 (GRCm39)		probably null	Het
Tusc3	G	A	8: 39,530,421 (GRCm39)	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,146,515 (GRCm39)	Y422C	probably damaging	Het
Vmn2r88	A	T	14: 51,651,597 (GRCm39)	T312S	probably benign	Het
Zc3hav1l	A	T	6: 38,272,125 (GRCm39)	S215T	probably damaging	Het
Zfp947	T	A	17: 22,365,165 (GRCm39)	T170S	probably benign	Het

Other mutations in Serpinh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02405:Serpinh1	APN	7	98,996,541 (GRCm39)	missense	possibly damaging	0.94
IGL02506:Serpinh1	APN	7	98,996,199 (GRCm39)	missense	probably damaging	1.00
R0070:Serpinh1	UTSW	7	98,998,521 (GRCm39)	missense	probably damaging	1.00
R0608:Serpinh1	UTSW	7	98,998,601 (GRCm39)	missense	unknown
R1338:Serpinh1	UTSW	7	98,998,118 (GRCm39)	missense	probably damaging	1.00
R1612:Serpinh1	UTSW	7	98,998,138 (GRCm39)	missense	probably damaging	0.97
R1916:Serpinh1	UTSW	7	98,998,288 (GRCm39)	missense	probably damaging	1.00
R2321:Serpinh1	UTSW	7	98,995,592 (GRCm39)	missense	probably damaging	1.00
R2886:Serpinh1	UTSW	7	98,998,228 (GRCm39)	missense	probably damaging	1.00
R4176:Serpinh1	UTSW	7	98,996,206 (GRCm39)	missense	probably benign
R5860:Serpinh1	UTSW	7	98,995,571 (GRCm39)	missense	probably damaging	1.00
R7345:Serpinh1	UTSW	7	98,995,563 (GRCm39)	missense	probably damaging	0.99
R7884:Serpinh1	UTSW	7	98,998,495 (GRCm39)	missense	probably benign	0.00
R8215:Serpinh1	UTSW	7	98,995,545 (GRCm39)	missense	possibly damaging	0.58
R8309:Serpinh1	UTSW	7	98,998,151 (GRCm39)	missense	possibly damaging	0.94
R8756:Serpinh1	UTSW	7	98,996,359 (GRCm39)	missense	probably damaging	1.00
R9515:Serpinh1	UTSW	7	98,996,484 (GRCm39)	missense	probably damaging	1.00
RF005:Serpinh1	UTSW	7	98,995,410 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTACCACCCAGTGACACAAG -3'
(R):5'- CCAGATGTGCTAGATTTCCAGCCC -3'

Sequencing Primer
(F):5'- TGACACAAGACCCAGGGATG -3'
(R):5'- gctacagcctacttcaggac -3'

Posted On

2013-08-06