Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Serpinh1'

608943

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

045936-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98994583-99002321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98998495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 45 (R45H)

Ref Sequence

ENSEMBL: ENSMUSP00000091706 (fasta)

Gene Model

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

AlphaFold

P19324

Predicted Effect

probably benign
Transcript: ENSMUST00000094154
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091706
Gene: ENSMUSG00000070436
AA Change: R45H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169437
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126390
Gene: ENSMUSG00000070436
AA Change: R45H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207849
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000207989
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000208119
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000208292
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000208749
AA Change: R45H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Ctsh	A	G	9: 89,943,476 (GRCm39)	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,830,929 (GRCm39)	L3813F	probably benign	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fank1	G	C	7: 133,478,554 (GRCm39)	R206P	probably damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Mars1	A	G	10: 127,136,114 (GRCm39)	I525T	probably damaging	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Omd	A	G	13: 49,743,630 (GRCm39)	M227V	probably damaging	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Rhag	A	G	17: 41,142,536 (GRCm39)	Y247C	probably benign	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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
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'- AGTTTCCAGGTCACGTTGC -3'
(R):5'- TTCTCTGAAGCCCTCACAGG -3'

Sequencing Primer
(F):5'- ACCTCCTCATCGCGCAG -3'
(R):5'- TGAAGCCCTCACAGGTCCTC -3'

Posted On

2019-12-20