Mutagenetix > Incidental Mutation

Incidental Mutation 'R4618:Serpini1'

345073

Institutional Source

Beutler Lab

Gene Symbol

Serpini1

Ensembl Gene

ENSMUSG00000027834

Gene Name

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

Synonyms

PI12, Spi17, Neuroserpin, Ns

MMRRC Submission

041884-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75464800-75549830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75523883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 164 (K164E)

Ref Sequence

ENSEMBL: ENSMUSP00000123845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029423] [ENSMUST00000161776]

AlphaFold

O35684

Predicted Effect

probably benign
Transcript: ENSMUST00000029423
AA Change: K164E

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029423
Gene: ENSMUSG00000027834
AA Change: K164E

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
SERPIN	31	397	1.46e-158	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161695

Predicted Effect

probably benign
Transcript: ENSMUST00000161776
AA Change: K164E

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123845
Gene: ENSMUSG00000027834
AA Change: K164E

Domain	Start	End	E-Value	Type
low complexity region	4	12	N/A	INTRINSIC
SERPIN	31	207	1.15e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195285

Meta Mutation Damage Score

0.1783

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (89/91)

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 protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene show no change in brain morphology or histology. However, they show an increase avoidance of novel stimuli and increased anxiety responses in some situations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Adamtsl3	T	A	7: 82,255,728 (GRCm39)	M1580K	probably benign	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Akap3	G	T	6: 126,843,406 (GRCm39)	C675F	probably benign	Het
Asap1	A	T	15: 64,024,744 (GRCm39)	H318Q	probably damaging	Het
Atf7ip	G	T	6: 136,542,104 (GRCm39)	A18S	probably damaging	Het
Bcl2a1a	A	C	9: 88,839,357 (GRCm39)	N85T	probably damaging	Het
Btnl6	G	A	17: 34,733,120 (GRCm39)	P248S	probably damaging	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Ccdc14	T	A	16: 34,526,865 (GRCm39)	C257S	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cstdc3	T	A	16: 36,132,952 (GRCm39)	D76E	possibly damaging	Het
Endou	C	T	15: 97,611,763 (GRCm39)	V292M	possibly damaging	Het
Fbxo36	T	C	1: 84,877,749 (GRCm39)	I137T	probably damaging	Het
Fcer1a	T	C	1: 173,050,208 (GRCm39)	I161V	possibly damaging	Het
Fsip2	A	G	2: 82,818,103 (GRCm39)	Y4612C	probably benign	Het
Gcnt2	T	A	13: 41,111,670 (GRCm39)	L353*	probably null	Het
Ghrhr	T	C	6: 55,358,739 (GRCm39)	F172S	probably damaging	Het
Gins1	T	A	2: 150,759,781 (GRCm39)		probably null	Het
Gm16519	T	G	17: 71,236,237 (GRCm39)	L62R	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Greb1l	A	G	18: 10,498,965 (GRCm39)	T283A	probably benign	Het
Grin2c	T	A	11: 115,143,573 (GRCm39)	D729V	probably damaging	Het
Heatr4	T	G	12: 84,024,841 (GRCm39)	T327P	probably damaging	Het
Hes2	A	C	4: 152,244,845 (GRCm39)	S105R	probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itih1	A	T	14: 30,651,788 (GRCm39)	D851E	probably benign	Het
Klhdc7b	A	G	15: 89,271,472 (GRCm39)	T785A	probably benign	Het
Lmbr1	G	T	5: 29,551,863 (GRCm39)	A74E	probably damaging	Het
Lonp1	A	C	17: 56,929,511 (GRCm39)	H175Q	probably benign	Het
Maml2	T	C	9: 13,531,371 (GRCm39)	F195S	probably damaging	Het
Man2b2	G	T	5: 36,974,983 (GRCm39)	T436K	probably benign	Het
Man2c1	T	C	9: 57,049,439 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,940,837 (GRCm39)		probably benign	Het
Mtrf1l	C	A	10: 5,767,586 (GRCm39)	V177F	probably benign	Het
Naxd	A	T	8: 11,559,489 (GRCm39)	I213F	probably damaging	Het
Nbeal1	T	A	1: 60,267,890 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,047 (GRCm39)	I318V	probably damaging	Het
Nid2	T	A	14: 19,858,078 (GRCm39)	I1297N	probably damaging	Het
Nol10	T	C	12: 17,398,562 (GRCm39)	V3A	probably damaging	Het
Nop14	G	T	5: 34,796,562 (GRCm39)	P765Q	probably damaging	Het
Noxa1	C	T	2: 24,981,761 (GRCm39)	G114D	probably damaging	Het
Ntmt2	A	T	1: 163,552,597 (GRCm39)	F10I	probably damaging	Het
Opa1	T	C	16: 29,405,857 (GRCm39)	W141R	probably damaging	Het
Or10a2	G	A	7: 106,673,761 (GRCm39)	C242Y	probably damaging	Het
Or13p4	A	T	4: 118,546,667 (GRCm39)		probably benign	Het
Or5d18	A	G	2: 87,864,898 (GRCm39)	V195A	probably benign	Het
Or8h10	A	G	2: 86,808,618 (GRCm39)	I174T	possibly damaging	Het
Pde4d	A	T	13: 110,070,411 (GRCm39)	M7L	probably benign	Het
Phykpl	G	A	11: 51,483,056 (GRCm39)	A188T	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pkhd1l1	T	A	15: 44,403,078 (GRCm39)	V2260D	probably damaging	Het
Ptprt	T	C	2: 161,395,765 (GRCm39)	E1136G	probably damaging	Het
Rad21	A	T	15: 51,833,420 (GRCm39)	L353Q	probably damaging	Het
Rfx4	G	T	10: 84,716,760 (GRCm39)	A425S	probably benign	Het
Rnf38	A	G	4: 44,142,450 (GRCm39)	S169P	probably damaging	Het
Samd9l	C	A	6: 3,376,347 (GRCm39)	V305F	probably damaging	Het
Sirt6	A	G	10: 81,462,408 (GRCm39)	L37P	probably damaging	Het
Sorbs1	T	C	19: 40,361,962 (GRCm39)	T141A	probably damaging	Het
Tacc2	A	T	7: 130,227,946 (GRCm39)	T1563S	probably benign	Het
Tbc1d14	A	C	5: 36,687,725 (GRCm39)		probably benign	Het
Tbrg4	G	A	11: 6,570,185 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tpp1	A	T	7: 105,400,913 (GRCm39)	L38Q	probably benign	Het
Trhr	A	G	15: 44,061,037 (GRCm39)	N186D	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Tsen54	T	A	11: 115,706,247 (GRCm39)		probably benign	Het
Tsg101	A	G	7: 46,542,257 (GRCm39)	I138T	possibly damaging	Het
Usp22	A	G	11: 61,052,269 (GRCm39)	S237P	probably damaging	Het
Vmn1r209	A	G	13: 22,990,619 (GRCm39)	S24P	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,424 (GRCm39)	H233Q	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,436 (GRCm39)	I284N	probably benign	Het
Vmn2r66	T	C	7: 84,644,296 (GRCm39)	I705V	possibly damaging	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zdhhc11	T	A	13: 74,127,349 (GRCm39)	M242K	probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Serpini1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Serpini1	APN	3	75,548,002 (GRCm39)	nonsense	probably null
IGL02131:Serpini1	APN	3	75,548,011 (GRCm39)	missense	probably benign	0.15
IGL02265:Serpini1	APN	3	75,526,576 (GRCm39)	missense	probably damaging	0.96
IGL03151:Serpini1	APN	3	75,520,603 (GRCm39)	missense	probably benign	0.00
IGL03232:Serpini1	APN	3	75,545,317 (GRCm39)	splice site	probably benign
IGL03256:Serpini1	APN	3	75,526,481 (GRCm39)	missense	probably benign	0.04
R0021:Serpini1	UTSW	3	75,526,620 (GRCm39)	missense	probably damaging	1.00
R0021:Serpini1	UTSW	3	75,526,620 (GRCm39)	missense	probably damaging	1.00
R0449:Serpini1	UTSW	3	75,520,648 (GRCm39)	missense	probably benign	0.06
R0941:Serpini1	UTSW	3	75,523,934 (GRCm39)	missense	probably damaging	0.97
R1641:Serpini1	UTSW	3	75,521,977 (GRCm39)	missense	possibly damaging	0.94
R1968:Serpini1	UTSW	3	75,521,785 (GRCm39)	missense	probably benign	0.34
R1993:Serpini1	UTSW	3	75,521,971 (GRCm39)	missense	probably damaging	1.00
R2159:Serpini1	UTSW	3	75,531,251 (GRCm39)	missense	probably benign	0.06
R3418:Serpini1	UTSW	3	75,547,589 (GRCm39)	missense	probably damaging	1.00
R3419:Serpini1	UTSW	3	75,547,589 (GRCm39)	missense	probably damaging	1.00
R3780:Serpini1	UTSW	3	75,521,942 (GRCm39)	missense	probably damaging	0.96
R4864:Serpini1	UTSW	3	75,520,481 (GRCm39)	missense	probably benign	0.01
R4989:Serpini1	UTSW	3	75,521,795 (GRCm39)	missense	probably benign	0.07
R5080:Serpini1	UTSW	3	75,523,967 (GRCm39)	missense	probably damaging	1.00
R5324:Serpini1	UTSW	3	75,547,601 (GRCm39)	missense	probably damaging	1.00
R5767:Serpini1	UTSW	3	75,520,388 (GRCm39)	splice site	probably benign
R5817:Serpini1	UTSW	3	75,520,631 (GRCm39)	missense	probably benign	0.07
R5912:Serpini1	UTSW	3	75,523,914 (GRCm39)	missense	probably benign	0.04
R5944:Serpini1	UTSW	3	75,547,606 (GRCm39)	missense	probably damaging	1.00
R6704:Serpini1	UTSW	3	75,545,255 (GRCm39)	missense	probably damaging	0.96
R7716:Serpini1	UTSW	3	75,524,021 (GRCm39)	missense	probably damaging	1.00
R8696:Serpini1	UTSW	3	75,520,544 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGTATGCCTAGCACTTCC -3'
(R):5'- TAGAGCCCAAATTATATCCACAAGG -3'

Sequencing Primer
(F):5'- GTGTGTATGCCTAGCACTTCCTTTAG -3'
(R):5'- TCCACAAGGAGTTGAAGCC -3'

Posted On

2015-09-25