Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Serpina1c'

694596

Institutional Source

Beutler Lab

Gene Symbol

Serpina1c

Ensembl Gene

ENSMUSG00000079015

Gene Name

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

Synonyms

PI3, PI6, Spi1-6, Spi1-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103894926-103904887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103896141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 305 (H305L)

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: H305L

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073695
Gene: ENSMUSG00000079015
AA Change: H305L

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly damaging	Het

Other mutations in Serpina1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01905:Serpina1c	APN	12	103897059	missense	possibly damaging	0.84
IGL02220:Serpina1c	APN	12	103896079	missense	probably damaging	1.00
IGL02250:Serpina1c	APN	12	103897228	missense	probably benign	0.42
R0077:Serpina1c	UTSW	12	103896091	missense	probably benign	0.00
R0117:Serpina1c	UTSW	12	103895012	makesense	probably null
R1843:Serpina1c	UTSW	12	103895023	missense	probably benign	0.28
R2196:Serpina1c	UTSW	12	103896111	missense	probably damaging	0.99
R4261:Serpina1c	UTSW	12	103897080	missense	probably benign	0.03
R4486:Serpina1c	UTSW	12	103897000	splice site	probably null
R4572:Serpina1c	UTSW	12	103898708	intron	probably benign
R4910:Serpina1c	UTSW	12	103895032	missense	probably benign	0.05
R5036:Serpina1c	UTSW	12	103898826	missense	probably damaging	0.99
R6209:Serpina1c	UTSW	12	103897170	missense	probably damaging	1.00
R7533:Serpina1c	UTSW	12	103897307	missense	probably damaging	1.00
R7618:Serpina1c	UTSW	12	103898770	missense	probably damaging	1.00
R8424:Serpina1c	UTSW	12	103896037	missense	possibly damaging	0.59
R8902:Serpina1c	UTSW	12	103898858	missense	probably damaging	1.00
R9173:Serpina1c	UTSW	12	103896069	missense	possibly damaging	0.72
X0027:Serpina1c	UTSW	12	103897072	missense	probably benign	0.00
X0064:Serpina1c	UTSW	12	103896003	critical splice donor site	probably null
Z1176:Serpina1c	UTSW	12	103897143	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- GTCACACAGGACATCTCGAC -3'
(R):5'- GCTTGAGCTTTGAAATCCCAC -3'

Sequencing Primer
(F):5'- AGGACATCTCGACATTGCCATGG -3'
(R):5'- CTGCTGGAAGGTGACCATG -3'

Posted On

2022-01-20