Mutagenetix > Incidental Mutation

Incidental Mutation 'R7924:Serpinb3c'

643172

Institutional Source

Beutler Lab

Gene Symbol

Serpinb3c

Ensembl Gene

ENSMUSG00000073601

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 3C

Synonyms

1110001H02Rik, Scca2, Serpinb4, ovalbumin, 1110013A16Rik

MMRRC Submission

045971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7924 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

107271201-107278371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107273174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 171 (L171P)

Ref Sequence

ENSEMBL: ENSMUSP00000027565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027565] [ENSMUST00000166100]

AlphaFold

A2RSF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027565
AA Change: L171P

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

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: L171P

Domain	Start	End	E-Value	Type
SERPIN	13	386	7.91e-169	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166100

SMART Domains

Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602

Domain	Start	End	E-Value	Type
SERPIN	13	387	4.75e-181	SMART

Coding Region Coverage

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

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 124,663,312 (GRCm38)		probably benign	Het
4930435E12Rik	G	A	16: 38,812,464 (GRCm38)	Q369*	probably null	Het
Acacb	A	G	5: 114,245,220 (GRCm38)	K2155E	possibly damaging	Het
Adgre5	G	A	8: 83,729,400 (GRCm38)	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,425,993 (GRCm38)	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,270,456 (GRCm38)		probably null	Het
Ankrd11	T	C	8: 122,895,902 (GRCm38)	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,525,545 (GRCm38)	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,457,649 (GRCm38)	S65P	unknown	Het
Bbx	A	T	16: 50,224,308 (GRCm38)	L630H	probably damaging	Het
Cars	T	C	7: 143,569,871 (GRCm38)	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,520,565 (GRCm38)	H450Q	probably benign	Het
Cdt1	T	C	8: 122,569,352 (GRCm38)	L135P	probably damaging	Het
Cemip	A	T	7: 83,943,715 (GRCm38)		probably benign	Het
Cfap206	T	A	4: 34,728,833 (GRCm38)	H24L	probably benign	Het
Cnga4	T	A	7: 105,407,821 (GRCm38)	V480E	probably benign	Het
Cnot1	ACG	A	8: 95,745,647 (GRCm38)		probably null	Het
Ctcfl	G	A	2: 173,113,656 (GRCm38)	T271I	possibly damaging	Het
Dlc1	T	C	8: 36,571,416 (GRCm38)	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,219,430 (GRCm38)	D1927G	probably benign	Het
Dscc1	A	T	15: 55,082,176 (GRCm38)	D374E	probably benign	Het
Eci2	G	A	13: 34,993,070 (GRCm38)	Q69*	probably null	Het
Ep300	C	A	15: 81,649,502 (GRCm38)	P1920Q	unknown	Het
Epha5	A	G	5: 84,084,846 (GRCm38)	Y629H	possibly damaging	Het
Fam208b	A	T	13: 3,594,331 (GRCm38)	F129Y	possibly damaging	Het
Fat2	G	A	11: 55,262,787 (GRCm38)	T3533I	probably benign	Het
Fat3	T	C	9: 15,999,297 (GRCm38)	N1803S	probably damaging	Het
Fcrls	T	C	3: 87,259,533 (GRCm38)	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214 (GRCm38)	D113E	unknown	Het
Gcnt2	A	T	13: 40,918,564 (GRCm38)	K228*	probably null	Het
Gucy2c	A	T	6: 136,763,055 (GRCm38)	V258E	probably benign	Het
Hecw1	C	A	13: 14,322,528 (GRCm38)	L298F	probably damaging	Het
Hydin	T	G	8: 110,418,471 (GRCm38)	V818G	possibly damaging	Het
Hykk	A	G	9: 54,922,240 (GRCm38)	Y131C	probably damaging	Het
Ick	T	C	9: 78,155,464 (GRCm38)	L260P	probably damaging	Het
Mpo	A	G	11: 87,794,840 (GRCm38)	D48G	probably damaging	Het
Mrps10	T	C	17: 47,378,283 (GRCm38)	*202Q	probably null	Het
Mrps14	T	C	1: 160,196,989 (GRCm38)	V30A	probably benign	Het
Mtmr7	G	A	8: 40,606,884 (GRCm38)	A62V	possibly damaging	Het
Muc2	G	T	7: 141,695,388 (GRCm38)	G497W	probably damaging	Het
Nnt	A	T	13: 119,386,645 (GRCm38)	V237D	probably damaging	Het
Nox4	G	T	7: 87,374,381 (GRCm38)	V492L	probably benign	Het
Obscn	C	G	11: 59,112,555 (GRCm38)	E1306Q	probably benign	Het
Olfr303	A	G	7: 86,394,730 (GRCm38)	I256T	probably damaging	Het
Olfr993	T	C	2: 85,414,219 (GRCm38)	Y220C	probably benign	Het
Pard3	A	G	8: 127,410,750 (GRCm38)	N861S	probably benign	Het
Pdlim4	G	A	11: 54,055,222 (GRCm38)	R230*	probably null	Het
Pinlyp	C	T	7: 24,542,125 (GRCm38)	V159M	possibly damaging	Het
Pla2g4d	T	C	2: 120,289,164 (GRCm38)		probably benign	Het
Plcb1	A	T	2: 135,359,693 (GRCm38)	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,310 (GRCm38)	D409V	possibly damaging	Het
Prom1	T	C	5: 44,029,769 (GRCm38)	D382G	probably benign	Het
Prss16	A	T	13: 22,008,664 (GRCm38)	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,841,264 (GRCm38)	D133G	probably benign	Het
Rasef	C	T	4: 73,740,929 (GRCm38)		probably null	Het
Rbak	A	G	5: 143,174,486 (GRCm38)	S271P	probably damaging	Het
Rbm20	A	T	19: 53,677,585 (GRCm38)	I60F	possibly damaging	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,579,909 (GRCm38)		probably benign	Het
Slc25a19	T	C	11: 115,615,550 (GRCm38)	Y211C	unknown	Het
Sorbs2	C	T	8: 45,795,470 (GRCm38)	S586L	probably damaging	Het
Spesp1	A	T	9: 62,273,451 (GRCm38)	S58R	probably benign	Het
Spryd3	A	G	15: 102,118,327 (GRCm38)	I329T	probably benign	Het
St8sia2	G	A	7: 73,966,952 (GRCm38)	L113F	probably damaging	Het
Star	T	C	8: 25,809,855 (GRCm38)	I75T	possibly damaging	Het
Tdrd6	T	A	17: 43,627,806 (GRCm38)	I784F	possibly damaging	Het
Tsc22d4	A	G	5: 137,768,011 (GRCm38)	I144V	unknown	Het
Tspan8	T	C	10: 115,833,324 (GRCm38)		probably null	Het
Ttll9	C	T	2: 152,962,487 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,809,850 (GRCm38)		probably benign	Het
Ubr4	T	G	4: 139,467,276 (GRCm38)	L1160R	unknown	Het
Ufd1	A	G	16: 18,823,285 (GRCm38)	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,734,408 (GRCm38)	F1268I	probably benign	Het
Uvssa	T	C	5: 33,410,951 (GRCm38)	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,388 (GRCm38)	S817T	probably damaging	Het
Ybx1	T	C	4: 119,282,279 (GRCm38)	E173G	probably damaging	Het
Zc3h6	T	C	2: 129,015,480 (GRCm38)	S640P	possibly damaging	Het

Other mutations in Serpinb3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Serpinb3c	APN	1	107,276,260 (GRCm38)	critical splice donor site	probably null
IGL01349:Serpinb3c	APN	1	107,272,783 (GRCm38)	missense	probably damaging	1.00
IGL01730:Serpinb3c	APN	1	107,273,184 (GRCm38)	missense	probably damaging	0.99
IGL01732:Serpinb3c	APN	1	107,271,972 (GRCm38)	missense	probably benign
IGL02184:Serpinb3c	APN	1	107,271,918 (GRCm38)	missense	probably damaging	0.96
IGL02742:Serpinb3c	APN	1	107,273,142 (GRCm38)	nonsense	probably null
IGL03131:Serpinb3c	APN	1	107,271,727 (GRCm38)	missense	probably benign	0.09
IGL03394:Serpinb3c	APN	1	107,271,873 (GRCm38)	missense	probably benign	0.00
BB001:Serpinb3c	UTSW	1	107,273,174 (GRCm38)	missense	probably damaging	1.00
BB011:Serpinb3c	UTSW	1	107,273,174 (GRCm38)	missense	probably damaging	1.00
R0207:Serpinb3c	UTSW	1	107,276,992 (GRCm38)	missense	probably benign	0.02
R0508:Serpinb3c	UTSW	1	107,276,921 (GRCm38)	missense	probably damaging	1.00
R1542:Serpinb3c	UTSW	1	107,272,787 (GRCm38)	missense	probably damaging	1.00
R1660:Serpinb3c	UTSW	1	107,271,702 (GRCm38)	missense	probably damaging	1.00
R1731:Serpinb3c	UTSW	1	107,271,774 (GRCm38)	missense	probably damaging	0.99
R2012:Serpinb3c	UTSW	1	107,271,844 (GRCm38)	missense	possibly damaging	0.92
R5361:Serpinb3c	UTSW	1	107,276,931 (GRCm38)	nonsense	probably null
R5464:Serpinb3c	UTSW	1	107,271,704 (GRCm38)	missense	probably damaging	0.99
R5636:Serpinb3c	UTSW	1	107,275,014 (GRCm38)	missense	possibly damaging	0.57
R5677:Serpinb3c	UTSW	1	107,271,803 (GRCm38)	missense	probably damaging	1.00
R5965:Serpinb3c	UTSW	1	107,276,923 (GRCm38)	missense	probably benign	0.01
R6424:Serpinb3c	UTSW	1	107,271,629 (GRCm38)	makesense	probably null
R7132:Serpinb3c	UTSW	1	107,276,951 (GRCm38)	missense	probably damaging	0.96
R7161:Serpinb3c	UTSW	1	107,273,162 (GRCm38)	missense	probably null	1.00
R7319:Serpinb3c	UTSW	1	107,273,087 (GRCm38)	missense	possibly damaging	0.92
R7437:Serpinb3c	UTSW	1	107,271,714 (GRCm38)	missense	probably damaging	1.00
R7871:Serpinb3c	UTSW	1	107,273,153 (GRCm38)	missense	possibly damaging	0.95
R7922:Serpinb3c	UTSW	1	107,272,014 (GRCm38)	missense	probably damaging	1.00
R8114:Serpinb3c	UTSW	1	107,276,304 (GRCm38)	missense	probably benign	0.03
R8189:Serpinb3c	UTSW	1	107,276,309 (GRCm38)	missense	probably benign	0.00
R8384:Serpinb3c	UTSW	1	107,271,967 (GRCm38)	missense	probably benign	0.02
R9042:Serpinb3c	UTSW	1	107,272,001 (GRCm38)	missense	probably damaging	1.00
R9518:Serpinb3c	UTSW	1	107,272,738 (GRCm38)	missense	probably damaging	0.99
R9566:Serpinb3c	UTSW	1	107,272,695 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGACAGCACAGGTAGCAC -3'
(R):5'- TTGAGGAAGGCTATATCCTATGAACAG -3'

Sequencing Primer
(F):5'- CAGGTAGCACTGTAGAGACTCC -3'
(R):5'- AGGCTATATCCTATGAACAGATCAAC -3'

Posted On

2020-08-07