Mutagenetix > Incidental Mutation

Incidental Mutation 'R8424:Serpina1c'

653367

Institutional Source

Beutler Lab

Gene Symbol

Serpina1c

Ensembl Gene

ENSMUSG00000079015

Gene Name

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

Synonyms

PI3, Spi1-3, PI6, Spi1-6

MMRRC Submission

067818-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8424 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103861185-103871146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103862296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 340 (T340A)

Ref Sequence

ENSEMBL: ENSMUSP00000073695 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074051
AA Change: T340A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073695
Gene: ENSMUSG00000079015
AA Change: T340A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 78,946,885 (GRCm39)	P42S	probably damaging	Het
Acss2	A	G	2: 155,416,538 (GRCm39)	T694A	unknown	Het
Adar	C	T	3: 89,643,301 (GRCm39)	P394L	probably damaging	Het
Alx4	A	G	2: 93,507,814 (GRCm39)	M370V	probably benign	Het
Bag6	T	A	17: 35,365,830 (GRCm39)	L1089Q	probably damaging	Het
Bms1	T	C	6: 118,365,721 (GRCm39)	Y1155C	probably benign	Het
Cbl	G	A	9: 44,064,151 (GRCm39)	T795I	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdc5l	C	A	17: 45,726,526 (GRCm39)	A349S	probably benign	Het
Cdh5	G	A	8: 104,856,003 (GRCm39)	R312H	probably benign	Het
Cdk5rap1	T	C	2: 154,187,932 (GRCm39)	T465A	probably damaging	Het
Cep135	C	T	5: 76,741,906 (GRCm39)	T114I	possibly damaging	Het
Csrp1	T	C	1: 135,667,188 (GRCm39)	V17A	probably damaging	Het
Cutal	T	C	2: 34,777,804 (GRCm39)	S105P	probably benign	Het
Dgki	C	A	6: 36,827,850 (GRCm39)	V1016L	probably benign	Het
Dnmt1	T	C	9: 20,829,836 (GRCm39)	N746S	probably benign	Het
Ep400	A	T	5: 110,841,144 (GRCm39)	V1796E	unknown	Het
Fam83a	T	A	15: 57,873,046 (GRCm39)	S292T	possibly damaging	Het
H2ac4	A	G	13: 23,935,267 (GRCm39)	Y51C	probably damaging	Het
Keap1	C	A	9: 21,142,086 (GRCm39)	R596L	probably benign	Het
Klhl5	A	C	5: 65,320,305 (GRCm39)	T620P	probably benign	Het
Lbhd1	T	A	19: 8,861,341 (GRCm39)	D16E	possibly damaging	Het
Nadk2	T	C	15: 9,083,414 (GRCm39)	V110A	possibly damaging	Het
Ncbp1	A	T	4: 46,144,839 (GRCm39)	H30L	probably benign	Het
Or5ac21	A	T	16: 59,123,772 (GRCm39)	L85F	possibly damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pmp22	G	T	11: 63,023,902 (GRCm39)		probably benign	Het
Rc3h1	C	T	1: 160,793,342 (GRCm39)	L1076F	probably damaging	Het
Ryr3	T	C	2: 112,672,239 (GRCm39)	I1431V	possibly damaging	Het
S100a7a	T	A	3: 90,562,868 (GRCm39)	H18Q	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Setd5	A	G	6: 113,126,644 (GRCm39)	E1227G	probably benign	Het
Sh3yl1	G	A	12: 30,974,862 (GRCm39)	R71H	probably damaging	Het
Spry2	A	G	14: 106,130,836 (GRCm39)	S117P	probably damaging	Het
Srcap	T	C	7: 127,141,560 (GRCm39)	V1780A	probably benign	Het
Sting1	A	C	18: 35,872,223 (GRCm39)	I93S	probably benign	Het
Tas2r130	T	G	6: 131,607,790 (GRCm39)	T2P	probably benign	Het
Tiam2	T	A	17: 3,566,316 (GRCm39)	F1454I	probably damaging	Het
Tiam2	T	C	17: 3,566,317 (GRCm39)	F1454S	probably damaging	Het
Tnpo3	A	G	6: 29,555,205 (GRCm39)	S793P	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ubap2l	A	T	3: 89,928,338 (GRCm39)	D535E	probably damaging	Het
Ube2h	A	G	6: 30,260,940 (GRCm39)	S65P	probably damaging	Het
Vmn1r203	T	C	13: 22,709,004 (GRCm39)	S262P	probably damaging	Het
Wfdc8	A	G	2: 164,445,078 (GRCm39)	F179S	probably benign	Het
Wnk1	T	C	6: 119,911,388 (GRCm39)	T2153A	unknown	Het
Zfhx3	G	T	8: 109,583,385 (GRCm39)	G1084V	probably damaging	Het
Zfp273	A	G	13: 67,970,471 (GRCm39)	N40D	probably benign	Het
Zfp352	C	T	4: 90,112,480 (GRCm39)	P207S	possibly damaging	Het
Zfp952	T	A	17: 33,222,191 (GRCm39)	F223L	probably benign	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
IGL02220:Serpina1c	APN	12	103,862,338 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGAATCCGGACAGTCCTCAG -3'
(R):5'- ATTCAGTGTGAAAACCAGCCAG -3'

Sequencing Primer
(F):5'- GAAAGACCTTAGCCCGGAATCTG -3'
(R):5'- CACAACTGGGTGGGTCTTGAC -3'

Posted On

2020-10-20