Mutagenetix > Incidental Mutation

Incidental Mutation 'R5817:Serpini1'

449080

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

043397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75464800-75549830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75520631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 76 (M76K)

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: M76K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000029423
Gene: ENSMUSG00000027834
AA Change: M76K

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: M76K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000123845
Gene: ENSMUSG00000027834
AA Change: M76K

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: ENSMUST00000195285

Meta Mutation Damage Score

0.3436

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (71/71)

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 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	G	4: 144,349,497 (GRCm39)	I251M	probably benign	Het
Abcf3	T	C	16: 20,367,833 (GRCm39)	V63A	possibly damaging	Het
Agpat4	C	T	17: 12,434,097 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,890,720 (GRCm39)	V292M	probably damaging	Het
Ahnak2	A	T	12: 112,740,437 (GRCm39)	F406I	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgef5	G	A	6: 43,252,038 (GRCm39)	D930N	probably benign	Het
Cc2d2a	G	A	5: 43,869,760 (GRCm39)	R887Q	probably damaging	Het
Ceacam18	A	G	7: 43,291,265 (GRCm39)	T236A	probably benign	Het
Chst15	A	T	7: 131,870,873 (GRCm39)	Y221N	probably damaging	Het
Chst15	G	A	7: 131,870,876 (GRCm39)	L220F	probably damaging	Het
Cntn2	G	A	1: 132,446,486 (GRCm39)	T784I	probably benign	Het
D630003M21Rik	A	G	2: 158,038,413 (GRCm39)	L1011P	probably damaging	Het
Dync2h1	T	A	9: 6,996,905 (GRCm39)	D3894V	probably damaging	Het
Eif1ad19	G	T	12: 87,740,201 (GRCm39)	D119E	probably benign	Het
Fam13b	T	C	18: 34,590,850 (GRCm39)	M443V	possibly damaging	Het
Fam20a	T	A	11: 109,564,244 (GRCm39)	Q503L	possibly damaging	Het
Ftdc2	T	C	16: 58,457,156 (GRCm39)	I89V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm5454	T	A	13: 103,493,140 (GRCm39)		noncoding transcript	Het
Gm5581	A	G	6: 131,144,132 (GRCm39)		noncoding transcript	Het
Gm6619	A	G	6: 131,463,400 (GRCm39)	I6V	unknown	Het
Gmcl1	A	G	6: 86,691,230 (GRCm39)	M255T	probably damaging	Het
Golm2	T	A	2: 121,736,525 (GRCm39)	S231T	probably benign	Het
Gprc5c	T	A	11: 114,754,450 (GRCm39)	C42*	probably null	Het
Hmcn1	T	A	1: 150,613,275 (GRCm39)	E1384V	possibly damaging	Het
Il6	A	G	5: 30,223,006 (GRCm39)	I91V	probably benign	Het
Kmt2d	A	T	15: 98,760,244 (GRCm39)	S1005T	unknown	Het
Map1a	A	T	2: 121,129,391 (GRCm39)	H143L	possibly damaging	Het
Mical2	A	T	7: 111,922,866 (GRCm39)	T624S	probably benign	Het
Msh3	A	T	13: 92,422,508 (GRCm39)	N549K	possibly damaging	Het
Ncr1	T	A	7: 4,343,894 (GRCm39)	I164N	possibly damaging	Het
Or10ak11	T	G	4: 118,687,296 (GRCm39)	T115P	probably damaging	Het
Or51a5	A	T	7: 102,771,115 (GRCm39)	M292K	possibly damaging	Het
Or52m1	A	G	7: 102,289,585 (GRCm39)	N44S	probably damaging	Het
Or8d2b	A	G	9: 38,788,673 (GRCm39)	D67G	probably damaging	Het
Palmd	T	C	3: 116,712,272 (GRCm39)	I541M	probably benign	Het
Pcsk7	A	T	9: 45,837,331 (GRCm39)	M552L	probably benign	Het
Plekhh2	A	G	17: 84,879,154 (GRCm39)	E626G	possibly damaging	Het
Pole	G	A	5: 110,460,838 (GRCm39)	D1176N	probably damaging	Het
Polr2f	T	C	15: 79,035,869 (GRCm39)	I110T	probably damaging	Het
Pomt1	A	T	2: 32,138,691 (GRCm39)	I436F	probably damaging	Het
Prag1	A	C	8: 36,570,857 (GRCm39)	Q480P	probably damaging	Het
Qars1	C	T	9: 108,387,441 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,175,406 (GRCm39)	S1797L	probably damaging	Het
Rbm26	T	C	14: 105,366,039 (GRCm39)	T832A	probably damaging	Het
Rnf169	A	G	7: 99,574,976 (GRCm39)	S540P	probably benign	Het
Shq1	A	G	6: 100,550,681 (GRCm39)	L419S	probably damaging	Het
Slc25a17	G	A	15: 81,211,261 (GRCm39)	T225M	probably damaging	Het
Slc6a5	C	A	7: 49,606,239 (GRCm39)	L716I	probably benign	Het
Smc1b	A	G	15: 84,951,984 (GRCm39)	V1149A	probably damaging	Het
Trappc1	A	T	11: 69,215,060 (GRCm39)	Q26L	possibly damaging	Het
Trpm2	C	A	10: 77,801,814 (GRCm39)	G84W	probably damaging	Het
Ttn	G	A	2: 76,573,010 (GRCm39)	T24215M	probably damaging	Het
Ubn2	C	A	6: 38,456,088 (GRCm39)	T337K	probably damaging	Het
Ubr4	A	G	4: 139,196,158 (GRCm39)	K1265E	probably damaging	Het
Vmn1r214	T	G	13: 23,219,491 (GRCm39)	I328M	probably damaging	Het
Xcr1	C	T	9: 123,684,922 (GRCm39)	C280Y	possibly damaging	Het
Zc3h13	A	G	14: 75,565,572 (GRCm39)	E895G	probably damaging	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
R4618:Serpini1	UTSW	3	75,523,883 (GRCm39)	missense	probably benign	0.29
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
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'- TTGCAAAGTGTGGTGACAGG -3'
(R):5'- AATCCATCACAGTTACCTTTTCATG -3'

Sequencing Primer
(F):5'- TGACAGGGGCAACGTTC -3'
(R):5'- CTTAGTTTCACTTCAGCTATGGC -3'

Posted On

2016-12-20