Mutagenetix > Incidental Mutation

Incidental Mutation 'R1968:Serpini1'

219184

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

039981-MU

Accession Numbers

Essential gene?

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

Stock #

R1968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75464800-75549830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75521785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 92 (D92G)

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: D92G

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029423
Gene: ENSMUSG00000027834
AA Change: D92G

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: D92G

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123845
Gene: ENSMUSG00000027834
AA Change: D92G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,397,193 (GRCm39)	Y180H	possibly damaging	Het
Abcc10	A	T	17: 46,633,125 (GRCm39)	L528Q	probably damaging	Het
Adam18	T	A	8: 25,136,463 (GRCm39)	T353S	probably benign	Het
Aldh1a3	A	G	7: 66,061,248 (GRCm39)		probably null	Het
Aldh3b2	T	A	19: 4,030,705 (GRCm39)	M390K	probably benign	Het
Arhgap45	T	C	10: 79,863,536 (GRCm39)	I793T	probably damaging	Het
Arsb	A	G	13: 93,944,067 (GRCm39)	M253V	probably benign	Het
Atcay	T	C	10: 81,048,312 (GRCm39)	D258G	possibly damaging	Het
Atf1	G	T	15: 100,152,395 (GRCm39)		probably null	Het
Atp1a4	C	T	1: 172,067,731 (GRCm39)	E511K	probably benign	Het
Atp8a1	A	G	5: 67,825,000 (GRCm39)	V777A	probably benign	Het
Baz1a	T	C	12: 54,947,122 (GRCm39)	T1173A	possibly damaging	Het
Bdh2	A	T	3: 134,991,370 (GRCm39)	D15V	probably benign	Het
Cacna1e	T	C	1: 154,576,240 (GRCm39)	Y69C	probably damaging	Het
Caskin2	A	G	11: 115,694,440 (GRCm39)	L387P	probably benign	Het
Cat	T	C	2: 103,315,334 (GRCm39)	E17G	probably benign	Het
Ccdc15	T	C	9: 37,259,091 (GRCm39)	I54M	probably benign	Het
Ccn1	T	C	3: 145,353,965 (GRCm39)	Y275C	probably damaging	Het
Cdhr1	T	G	14: 36,801,682 (GRCm39)	I754L	probably benign	Het
Cep120	G	A	18: 53,856,313 (GRCm39)	T368I	probably benign	Het
Cep126	C	A	9: 8,100,909 (GRCm39)	D542Y	probably damaging	Het
Cep135	T	C	5: 76,772,594 (GRCm39)	S660P	possibly damaging	Het
Cfap70	A	T	14: 20,470,879 (GRCm39)	S455R	possibly damaging	Het
Chd8	A	G	14: 52,458,450 (GRCm39)	M886T	probably damaging	Het
Ckap5	T	C	2: 91,416,688 (GRCm39)	S1098P	probably benign	Het
Clec4e	A	T	6: 123,260,533 (GRCm39)	I204N	probably damaging	Het
Cntnap5c	G	A	17: 58,666,291 (GRCm39)	R1107H	probably damaging	Het
Cramp1	T	C	17: 25,183,913 (GRCm39)	D1234G	probably damaging	Het
Csf1r	A	T	18: 61,245,867 (GRCm39)	I275L	probably benign	Het
Cyp27a1	A	G	1: 74,776,435 (GRCm39)	E457G	probably benign	Het
Cyp2d11	T	C	15: 82,273,749 (GRCm39)	T410A	probably benign	Het
Cyp2d22	G	C	15: 82,257,373 (GRCm39)	T264S	probably benign	Het
Daam2	G	A	17: 49,790,088 (GRCm39)	R390W	probably damaging	Het
Decr2	T	C	17: 26,302,053 (GRCm39)	S226G	probably benign	Het
Dennd6b	T	C	15: 89,074,544 (GRCm39)	D91G	possibly damaging	Het
Dglucy	T	C	12: 100,825,903 (GRCm39)	V515A	possibly damaging	Het
Dlg5	A	T	14: 24,214,187 (GRCm39)	L734*	probably null	Het
Dop1b	A	G	16: 93,579,307 (GRCm39)	N1690D	probably damaging	Het
Exoc5	A	G	14: 49,272,347 (GRCm39)	Y356H	probably benign	Het
Fut7	T	A	2: 25,315,738 (GRCm39)	V332D	probably benign	Het
Gnas	T	C	2: 174,140,526 (GRCm39)	S232P	probably damaging	Het
Gramd4	A	G	15: 86,017,106 (GRCm39)	E522G	probably damaging	Het
Gys1	A	G	7: 45,092,970 (GRCm39)	T297A	probably damaging	Het
Herc4	T	C	10: 63,109,304 (GRCm39)	S180P	probably benign	Het
Hivep3	C	T	4: 119,953,435 (GRCm39)	P584S	possibly damaging	Het
Irag2	T	A	6: 145,115,499 (GRCm39)	S310T	probably damaging	Het
Itpk1	G	T	12: 102,641,729 (GRCm39)		probably null	Het
Jmjd1c	A	T	10: 67,061,219 (GRCm39)	S1191C	probably damaging	Het
Lima1	T	C	15: 99,717,565 (GRCm39)	N147S	probably benign	Het
Map4k5	G	A	12: 69,865,266 (GRCm39)	T506I	probably damaging	Het
Mat1a	A	T	14: 40,832,991 (GRCm39)	E58V	probably damaging	Het
Mfsd13a	T	C	19: 46,360,492 (GRCm39)	L348P	probably damaging	Het
Mon2	A	G	10: 122,845,470 (GRCm39)	Y1413H	probably damaging	Het
Mpp3	C	A	11: 101,909,378 (GRCm39)		probably benign	Het
Mpp4	T	A	1: 59,183,961 (GRCm39)	I260F	probably damaging	Het
Myocd	C	A	11: 65,091,733 (GRCm39)	G70C	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nckap5	T	A	1: 125,942,367 (GRCm39)	D209V	probably damaging	Het
Nlrp9a	A	G	7: 26,264,366 (GRCm39)	K707R	probably benign	Het
Npr3	A	G	15: 11,905,055 (GRCm39)	L224S	probably benign	Het
Or5m9b	T	A	2: 85,905,549 (GRCm39)	L155Q	probably damaging	Het
Or5w20	T	A	2: 87,727,383 (GRCm39)	V280E	probably damaging	Het
Or6c74	A	G	10: 129,869,602 (GRCm39)	S36G	probably damaging	Het
Otof	C	T	5: 30,545,998 (GRCm39)	D467N	probably damaging	Het
Paxx	T	C	2: 25,350,640 (GRCm39)		probably benign	Het
Pcmt1	G	A	10: 7,516,474 (GRCm39)	R179*	probably null	Het
Phkb	T	A	8: 86,697,580 (GRCm39)	V463D	probably benign	Het
Prkcq	T	C	2: 11,250,208 (GRCm39)	V175A	probably damaging	Het
Rasl11b	T	G	5: 74,356,797 (GRCm39)	I58S	probably damaging	Het
Rb1cc1	A	T	1: 6,318,419 (GRCm39)		probably null	Het
Reck	T	A	4: 43,913,771 (GRCm39)		probably null	Het
Riox1	G	T	12: 83,998,156 (GRCm39)	D231Y	probably damaging	Het
Rlf	T	A	4: 121,005,617 (GRCm39)	N1231I	probably damaging	Het
Rpn1	A	G	6: 88,072,530 (GRCm39)	D291G	possibly damaging	Het
Samsn1	C	T	16: 75,742,461 (GRCm39)		noncoding transcript	Het
Scara5	T	C	14: 65,927,249 (GRCm39)	C49R	possibly damaging	Het
Setdb2	A	T	14: 59,656,858 (GRCm39)	L153Q	probably damaging	Het
Sh3rf3	C	T	10: 58,649,809 (GRCm39)	T138M	probably benign	Het
Shkbp1	C	T	7: 27,054,825 (GRCm39)		probably null	Het
Slc22a29	G	A	19: 8,195,707 (GRCm39)	P111S	probably benign	Het
Smarca1	A	G	X: 46,941,564 (GRCm39)	V618A	probably damaging	Het
Spef2	T	A	15: 9,609,602 (GRCm39)	M1308L	probably damaging	Het
Spink5	A	G	18: 44,123,775 (GRCm39)	N354S	probably benign	Het
Srrm2	T	C	17: 24,040,465 (GRCm39)	S2370P	probably damaging	Het
Ssxb3	A	T	X: 8,454,905 (GRCm39)	I28N	probably damaging	Het
Sucla2	A	G	14: 73,831,119 (GRCm39)	T411A	probably damaging	Het
Tex38	A	C	4: 115,637,537 (GRCm39)	S89A	probably benign	Het
Tjp2	A	T	19: 24,088,437 (GRCm39)	D723E	probably damaging	Het
Tln2	A	T	9: 67,163,183 (GRCm39)	N1121K	probably damaging	Het
Tti1	T	C	2: 157,850,966 (GRCm39)	E91G	possibly damaging	Het
Wbp2	A	T	11: 115,973,191 (GRCm39)	M72K	possibly damaging	Het
Wdfy4	C	A	14: 32,828,001 (GRCm39)	C1062F	possibly damaging	Het
Wiz	A	G	17: 32,578,346 (GRCm39)	Y389H	probably damaging	Het
Zcchc3	T	C	2: 152,256,012 (GRCm39)	K229R	probably damaging	Het
Zmat3	C	A	3: 32,415,131 (GRCm39)	D60Y	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
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
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'- AGTGTCTGGCTTGATCTCTGAC -3'
(R):5'- GCCACAGCCACATTTTGAC -3'

Sequencing Primer
(F):5'- GTGCACCAAGATAATTTGAGCATC -3'
(R):5'- GACTGAAGTCCACATGGTTGACTTC -3'

Posted On

2014-08-25