Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02220:Serpina1c'

285118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpina1c

Ensembl Gene

ENSMUSG00000079015

Gene Name

serine (or cysteine) peptidase inhibitor, clade A, member 1C

Synonyms

PI3, Spi1-3, PI6, Spi1-6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

103861185-103871146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103862338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 326 (I326F)

Ref Sequence

ENSEMBL: ENSMUSP00000073695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074051]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000074051
AA Change: I326F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073695
Gene: ENSMUSG00000079015
AA Change: I326F

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
SERPIN	53	410	5.23e-201	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130054

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,310,395 (GRCm39)	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,943,933 (GRCm39)	M1V	probably null	Het
Anks1	T	C	17: 28,273,681 (GRCm39)	I977T	probably damaging	Het
Bcar1	T	C	8: 112,437,839 (GRCm39)	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,793,641 (GRCm39)	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,392,078 (GRCm39)	G473D	probably damaging	Het
Cdh23	G	T	10: 60,140,903 (GRCm39)	H3148Q	probably damaging	Het
Col6a4	A	G	9: 105,940,141 (GRCm39)	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,166,455 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,067,738 (GRCm39)	G825S	possibly damaging	Het
Dera	T	A	6: 137,757,815 (GRCm39)		probably null	Het
Dnah17	G	T	11: 117,963,793 (GRCm39)	Y2506*	probably null	Het
Enam	T	A	5: 88,652,418 (GRCm39)	L1309*	probably null	Het
Fbxo15	G	A	18: 84,982,317 (GRCm39)		probably null	Het
Fgfbp1	T	C	5: 44,136,828 (GRCm39)	K155E	probably damaging	Het
Foxj2	C	T	6: 122,815,540 (GRCm39)		probably benign	Het
Fuca1	A	G	4: 135,666,530 (GRCm39)		probably benign	Het
Gad1-ps	T	A	10: 99,281,184 (GRCm39)		noncoding transcript	Het
H2-Eb2	C	T	17: 34,544,661 (GRCm39)		probably benign	Het
Insr	A	T	8: 3,209,578 (GRCm39)	F1168L	probably damaging	Het
Isx	T	A	8: 75,619,333 (GRCm39)	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,407,070 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,494,932 (GRCm39)	I218T	probably damaging	Het
Llgl2	C	A	11: 115,736,205 (GRCm39)	A126D	possibly damaging	Het
Ltbp2	T	C	12: 84,876,083 (GRCm39)	E488G	possibly damaging	Het
Maml3	A	G	3: 51,597,639 (GRCm39)	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,597,708 (GRCm39)	I14T	probably damaging	Het
Myo3b	A	G	2: 70,119,923 (GRCm39)		probably benign	Het
Nfkbil1	T	C	17: 35,439,722 (GRCm39)	R264G	possibly damaging	Het
Or4c3d	A	G	2: 89,882,038 (GRCm39)	L210P	probably damaging	Het
Pde5a	G	T	3: 122,542,031 (GRCm39)	A174S	probably benign	Het
Plch1	A	T	3: 63,606,382 (GRCm39)	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,035,512 (GRCm39)	R1171L	probably damaging	Het
Prom1	T	C	5: 44,172,131 (GRCm39)	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,742 (GRCm39)		probably benign	Het
Samsn1	A	G	16: 75,680,763 (GRCm39)		probably null	Het
Sbno2	T	A	10: 79,908,202 (GRCm39)	T66S	probably benign	Het
Slc12a1	T	C	2: 125,030,190 (GRCm39)		probably null	Het
Slc18a2	A	G	19: 59,264,988 (GRCm39)	E324G	probably benign	Het
Slc40a1	A	T	1: 45,950,495 (GRCm39)	M319K	probably damaging	Het
Slc44a5	T	C	3: 153,956,608 (GRCm39)	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,441,672 (GRCm39)	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,098,032 (GRCm39)	F545S	probably benign	Het
Svop	T	C	5: 114,203,589 (GRCm39)	D65G	probably benign	Het
Tex30	A	T	1: 44,126,182 (GRCm39)	S182R	probably benign	Het
Tmem121b	T	C	6: 120,469,298 (GRCm39)	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 61,210,941 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,769,679 (GRCm39)	S490P	probably benign	Het
Ubr4	A	G	4: 139,115,746 (GRCm39)	T82A	probably benign	Het
Vps16	A	G	2: 130,283,573 (GRCm39)	D589G	possibly damaging	Het
Zscan29	A	C	2: 120,997,170 (GRCm39)	S184A	probably damaging	Het

Other mutations in Serpina1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01905:Serpina1c	APN	12	103,863,318 (GRCm39)	missense	possibly damaging	0.84
IGL02250:Serpina1c	APN	12	103,863,487 (GRCm39)	missense	probably benign	0.42
R0077:Serpina1c	UTSW	12	103,862,350 (GRCm39)	missense	probably benign	0.00
R0117:Serpina1c	UTSW	12	103,861,271 (GRCm39)	makesense	probably null
R1843:Serpina1c	UTSW	12	103,861,282 (GRCm39)	missense	probably benign	0.28
R2196:Serpina1c	UTSW	12	103,862,370 (GRCm39)	missense	probably damaging	0.99
R4261:Serpina1c	UTSW	12	103,863,339 (GRCm39)	missense	probably benign	0.03
R4486:Serpina1c	UTSW	12	103,863,259 (GRCm39)	splice site	probably null
R4572:Serpina1c	UTSW	12	103,864,967 (GRCm39)	intron	probably benign
R4910:Serpina1c	UTSW	12	103,861,291 (GRCm39)	missense	probably benign	0.05
R5036:Serpina1c	UTSW	12	103,865,085 (GRCm39)	missense	probably damaging	0.99
R6209:Serpina1c	UTSW	12	103,863,429 (GRCm39)	missense	probably damaging	1.00
R7533:Serpina1c	UTSW	12	103,863,566 (GRCm39)	missense	probably damaging	1.00
R7618:Serpina1c	UTSW	12	103,865,029 (GRCm39)	missense	probably damaging	1.00
R8424:Serpina1c	UTSW	12	103,862,296 (GRCm39)	missense	possibly damaging	0.59
R8902:Serpina1c	UTSW	12	103,865,117 (GRCm39)	missense	probably damaging	1.00
R9145:Serpina1c	UTSW	12	103,862,400 (GRCm39)	missense	possibly damaging	0.61
R9173:Serpina1c	UTSW	12	103,862,328 (GRCm39)	missense	possibly damaging	0.72
X0027:Serpina1c	UTSW	12	103,863,331 (GRCm39)	missense	probably benign	0.00
X0064:Serpina1c	UTSW	12	103,862,262 (GRCm39)	critical splice donor site	probably null
Z1176:Serpina1c	UTSW	12	103,863,402 (GRCm39)	missense	probably benign	0.44

Posted On

2015-04-16