Mutagenetix > Incidental Mutation

Incidental Mutation 'R1612:Serpinh1'

176866

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

039649-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1612 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98994583-99002321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98998138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 164 (D164G)

Ref Sequence

ENSEMBL: ENSMUSP00000146969 (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: D164G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: D164G

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: D164G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: D164G

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: D164G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000207989

Predicted Effect

probably damaging
Transcript: ENSMUST00000208119
AA Change: D164G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000208292

Predicted Effect

probably benign
Transcript: ENSMUST00000208749
AA Change: D164G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.2484

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (69/71)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	A	G	3: 79,538,451 (GRCm39)	T66A	probably benign	Het
Actb	A	G	5: 142,891,350 (GRCm39)	F31S	probably damaging	Het
Adamts7	T	C	9: 90,070,750 (GRCm39)	S624P	possibly damaging	Het
Adh7	T	C	3: 137,934,642 (GRCm39)	I355T	possibly damaging	Het
Arhgef40	A	G	14: 52,241,538 (GRCm39)	E106G	probably damaging	Het
Brd10	A	G	19: 29,695,245 (GRCm39)	V1483A	possibly damaging	Het
Cabp7	T	C	11: 4,689,198 (GRCm39)	D149G	probably damaging	Het
Cass4	A	T	2: 172,268,998 (GRCm39)	Q362L	possibly damaging	Het
Cd14	G	A	18: 36,858,718 (GRCm39)	Q246*	probably null	Het
Cdr2l	A	C	11: 115,284,232 (GRCm39)	E189D	probably benign	Het
Col6a6	A	G	9: 105,654,748 (GRCm39)	V991A	probably damaging	Het
Coq7	A	G	7: 118,109,134 (GRCm39)	W305R	unknown	Het
Cracr2a	G	T	6: 127,580,892 (GRCm39)	G23*	probably null	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Epcam	T	C	17: 87,947,366 (GRCm39)	L40P	possibly damaging	Het
Eps8	G	A	6: 137,477,616 (GRCm39)	P531S	probably benign	Het
Faap100	C	A	11: 120,267,914 (GRCm39)	L286F	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbn2	A	T	18: 58,194,824 (GRCm39)	C1446S	probably damaging	Het
Fmo3	A	G	1: 162,795,454 (GRCm39)	V127A	probably damaging	Het
Frem3	A	G	8: 81,341,490 (GRCm39)	D1261G	probably damaging	Het
Gabbr1	A	G	17: 37,381,561 (GRCm39)	Y775C	probably damaging	Het
Gbp11	G	T	5: 105,474,462 (GRCm39)	Q405K	possibly damaging	Het
Gdi2	T	A	13: 3,610,051 (GRCm39)	V260E	probably benign	Het
Glp2r	C	T	11: 67,633,033 (GRCm39)	V98M	possibly damaging	Het
Gm13741	T	C	2: 87,486,431 (GRCm39)	Y278C	probably damaging	Het
Gm7732	G	A	17: 21,350,177 (GRCm39)		noncoding transcript	Het
Gnptab	T	A	10: 88,264,344 (GRCm39)		probably null	Het
Hbs1l	T	G	10: 21,234,734 (GRCm39)	F596V	probably damaging	Het
Krt78	A	T	15: 101,860,279 (GRCm39)		probably null	Het
Krt87	A	T	15: 101,386,092 (GRCm39)	L223Q	probably benign	Het
Lcmt2	T	C	2: 120,969,601 (GRCm39)	Y274C	probably damaging	Het
Limd1	A	G	9: 123,347,219 (GRCm39)	Y620C	probably damaging	Het
Lvrn	G	T	18: 47,027,770 (GRCm39)	A862S	probably damaging	Het
Map4k2	A	G	19: 6,393,371 (GRCm39)	E206G	probably damaging	Het
Med16	A	G	10: 79,735,079 (GRCm39)	S461P	probably damaging	Het
Mrfap1	C	A	5: 36,953,706 (GRCm39)	A78S	probably damaging	Het
Nav2	T	A	7: 49,220,959 (GRCm39)	N1715K	probably damaging	Het
Ndc1	A	G	4: 107,252,265 (GRCm39)		probably benign	Het
Ngly1	G	T	14: 16,290,867 (GRCm38)	G450*	probably null	Het
Or13c25	T	A	4: 52,911,501 (GRCm39)	M98L	probably benign	Het
Or5k3	T	C	16: 58,969,987 (GRCm39)	M258T	probably benign	Het
Pde3b	T	A	7: 114,118,791 (GRCm39)	Y643*	probably null	Het
Pdilt	T	G	7: 119,086,198 (GRCm39)	N506H	possibly damaging	Het
Pear1	C	T	3: 87,659,160 (GRCm39)		probably null	Het
Pfkp	A	T	13: 6,638,625 (GRCm39)	M582K	probably damaging	Het
Pigl	T	A	11: 62,403,820 (GRCm39)	F251I	probably benign	Het
Plk3	A	G	4: 116,989,004 (GRCm39)	Y252H	probably damaging	Het
Prdx3	A	G	19: 60,862,872 (GRCm39)	S12P	possibly damaging	Het
Prkag2	T	C	5: 25,082,026 (GRCm39)	I96V	probably benign	Het
Pwwp3a	T	A	10: 80,068,889 (GRCm39)		probably benign	Het
Rgs3	G	A	4: 62,544,172 (GRCm39)	V146M	probably damaging	Het
Slc35d2	T	C	13: 64,259,324 (GRCm39)		probably benign	Het
Slc6a6	A	G	6: 91,718,008 (GRCm39)	N316D	probably damaging	Het
Snx14	A	T	9: 88,258,958 (GRCm39)	M973K	possibly damaging	Het
Sptan1	C	G	2: 29,893,348 (GRCm39)	R1126G	probably damaging	Het
Stpg3	T	C	2: 25,103,866 (GRCm39)	T157A	probably benign	Het
Tmem39b	A	T	4: 129,580,715 (GRCm39)	M259K	possibly damaging	Het
Tomm40l	A	T	1: 171,049,471 (GRCm39)		probably null	Het
Tsen34	G	T	7: 3,698,395 (GRCm39)	G180W	probably damaging	Het
Ube2l6	C	T	2: 84,636,717 (GRCm39)	R54W	probably damaging	Het
Vdac1	A	T	11: 52,274,897 (GRCm39)	T182S	probably benign	Het
Wdr3	T	C	3: 100,058,515 (GRCm39)		probably benign	Het
Wsb1	T	A	11: 79,139,411 (GRCm39)	Q95L	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
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
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'- TGGGCTTATCAGTAGCCCTGACTC -3'
(R):5'- AGAACATCCTCCTGTCACCCTTGG -3'

Sequencing Primer
(F):5'- TTTCCATAAGGAGAATCAAGCTCAGG -3'
(R):5'- GTCACTGGGTGGTAAAGCC -3'

Posted On

2014-04-24