Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Serpinh1'

214865

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

039934-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1916 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98994583-99002321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98998288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 114 (L114P)

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: L114P

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

SMART Domains

Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: L114P

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: L114P

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

SMART Domains

Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: L114P

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: L114P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207989
AA Change: L114P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208119
AA Change: L114P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000208292

Predicted Effect

probably damaging
Transcript: ENSMUST00000208749
AA Change: L114P

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

Meta Mutation Damage Score

0.9431

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm1110	A	T	9: 26,800,934 (GRCm39)	V420E	probably damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	probably damaging	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
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
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'- ACTCGTTGATGGACTGCAGG -3'
(R):5'- GAAGCTAAGTTCCAAGGCGACC -3'

Sequencing Primer
(F):5'- ATGGACTGCAGGGCGCTG -3'
(R):5'- GTTCCAAGGCGACCACACTG -3'

Posted On

2014-07-14