Mutagenetix > Incidental Mutation

Incidental Mutation 'R5361:Serpinb3c'

422784

Institutional Source

Beutler Lab

Gene Symbol

Serpinb3c

Ensembl Gene

ENSMUSG00000073601

Gene Name

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

Synonyms

ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2

MMRRC Submission

042940-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107198931-107206101 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107204661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 28 (Y28*)

Ref Sequence

ENSEMBL: ENSMUSP00000027565 (fasta)

Gene Model

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

AlphaFold

A2RSF9

Predicted Effect

probably null
Transcript: ENSMUST00000027565
AA Change: Y28*

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: Y28*

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: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	A	9: 57,164,468 (GRCm39)	K635N	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ahnak	T	A	19: 8,992,705 (GRCm39)	M4663K	possibly damaging	Het
C4b	T	A	17: 34,960,212 (GRCm39)	T280S	probably benign	Het
Ccdc166	A	G	15: 75,852,869 (GRCm39)	V366A	probably benign	Het
Cdh23	A	G	10: 60,493,044 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,792,292 (GRCm39)	T1281A	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dbndd1	T	A	8: 124,233,484 (GRCm39)	D127V	probably damaging	Het
Ddx20	T	A	3: 105,590,825 (GRCm39)	E197V	probably damaging	Het
Dennd10	A	G	19: 60,814,324 (GRCm39)	M96V	probably benign	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dnmt3a	T	C	12: 3,945,643 (GRCm39)	V24A	probably benign	Het
Dop1b	C	A	16: 93,567,392 (GRCm39)	A1273E	probably damaging	Het
Dsg1c	T	C	18: 20,416,703 (GRCm39)	V868A	possibly damaging	Het
Dtx4	A	G	19: 12,462,626 (GRCm39)		probably null	Het
Elovl4	A	G	9: 83,672,154 (GRCm39)	L55P	possibly damaging	Het
Fbxo40	T	A	16: 36,789,914 (GRCm39)	T399S	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm14399	T	C	2: 174,973,371 (GRCm39)	E96G	probably damaging	Het
Gm14496	T	G	2: 181,642,147 (GRCm39)	V606G	probably benign	Het
Gpr156	A	G	16: 37,826,087 (GRCm39)	E768G	probably damaging	Het
Grm5	A	T	7: 87,723,704 (GRCm39)	T665S	probably damaging	Het
Hsdl2	A	G	4: 59,592,301 (GRCm39)		probably benign	Het
Htt	T	C	5: 35,064,928 (GRCm39)	V3047A	possibly damaging	Het
Igkv3-2	A	T	6: 70,676,011 (GRCm39)	T107S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itih2	T	A	2: 10,101,272 (GRCm39)	T899S	probably benign	Het
Lhcgr	T	A	17: 89,050,281 (GRCm39)	Y415F	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med4	C	A	14: 73,747,553 (GRCm39)	S18*	probably null	Het
Nefl	T	C	14: 68,322,088 (GRCm39)	V226A	probably damaging	Het
Nploc4	T	A	11: 120,275,389 (GRCm39)	N516Y	probably damaging	Het
Or1o4	A	G	17: 37,590,501 (GRCm39)	V270A	probably benign	Het
Or6c66	A	T	10: 129,461,601 (GRCm39)	F110I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdha3	T	G	18: 37,079,752 (GRCm39)	L165V	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,099 (GRCm39)	V415D	probably damaging	Het
Pcdhga10	T	C	18: 37,880,503 (GRCm39)	I88T	probably damaging	Het
Pigyl	T	A	9: 22,069,292 (GRCm39)	M1K	probably null	Het
Prr27	T	C	5: 87,991,203 (GRCm39)	S272P	probably damaging	Het
Prss3	C	T	6: 41,350,780 (GRCm39)	D237N	probably benign	Het
Pstpip2	A	G	18: 77,958,078 (GRCm39)	D150G	probably damaging	Het
Robo4	T	A	9: 37,324,674 (GRCm39)	D909E	probably benign	Het
Slc26a3	T	C	12: 31,500,980 (GRCm39)		probably null	Het
Slc6a1	A	T	6: 114,279,493 (GRCm39)	I91F	probably benign	Het
Smcr8	T	G	11: 60,669,118 (GRCm39)	Y89D	probably damaging	Het
Sspo	T	A	6: 48,443,247 (GRCm39)	M1898K	probably benign	Het
Tbl1xr1	T	A	3: 22,246,233 (GRCm39)	I251K	probably damaging	Het
Thbs4	C	T	13: 92,913,501 (GRCm39)	D140N	probably benign	Het
Tmbim6	G	A	15: 99,303,633 (GRCm39)	A108T	probably benign	Het
Trim10	T	G	17: 37,186,328 (GRCm39)	L301R	probably benign	Het
Trpm7	A	T	2: 126,671,161 (GRCm39)	I607N	possibly damaging	Het
Vmn2r9	T	A	5: 108,995,929 (GRCm39)	I240F	probably damaging	Het
Xpot	T	A	10: 121,436,765 (GRCm39)	I873F	possibly damaging	Het
Zfhx4	G	A	3: 5,464,267 (GRCm39)	S1475N	probably damaging	Het
Zfp712	A	G	13: 67,189,079 (GRCm39)	S483P	possibly damaging	Het
Zswim7	A	T	11: 62,158,373 (GRCm39)	H122Q	probably benign	Het

Other mutations in Serpinb3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Serpinb3c	APN	1	107,203,990 (GRCm39)	critical splice donor site	probably null
IGL01349:Serpinb3c	APN	1	107,200,513 (GRCm39)	missense	probably damaging	1.00
IGL01730:Serpinb3c	APN	1	107,200,914 (GRCm39)	missense	probably damaging	0.99
IGL01732:Serpinb3c	APN	1	107,199,702 (GRCm39)	missense	probably benign
IGL02184:Serpinb3c	APN	1	107,199,648 (GRCm39)	missense	probably damaging	0.96
IGL02742:Serpinb3c	APN	1	107,200,872 (GRCm39)	nonsense	probably null
IGL03131:Serpinb3c	APN	1	107,199,457 (GRCm39)	missense	probably benign	0.09
IGL03394:Serpinb3c	APN	1	107,199,603 (GRCm39)	missense	probably benign	0.00
BB001:Serpinb3c	UTSW	1	107,200,904 (GRCm39)	missense	probably damaging	1.00
BB011:Serpinb3c	UTSW	1	107,200,904 (GRCm39)	missense	probably damaging	1.00
R0207:Serpinb3c	UTSW	1	107,204,722 (GRCm39)	missense	probably benign	0.02
R0508:Serpinb3c	UTSW	1	107,204,651 (GRCm39)	missense	probably damaging	1.00
R1542:Serpinb3c	UTSW	1	107,200,517 (GRCm39)	missense	probably damaging	1.00
R1660:Serpinb3c	UTSW	1	107,199,432 (GRCm39)	missense	probably damaging	1.00
R1731:Serpinb3c	UTSW	1	107,199,504 (GRCm39)	missense	probably damaging	0.99
R2012:Serpinb3c	UTSW	1	107,199,574 (GRCm39)	missense	possibly damaging	0.92
R5464:Serpinb3c	UTSW	1	107,199,434 (GRCm39)	missense	probably damaging	0.99
R5636:Serpinb3c	UTSW	1	107,202,744 (GRCm39)	missense	possibly damaging	0.57
R5677:Serpinb3c	UTSW	1	107,199,533 (GRCm39)	missense	probably damaging	1.00
R5965:Serpinb3c	UTSW	1	107,204,653 (GRCm39)	missense	probably benign	0.01
R6424:Serpinb3c	UTSW	1	107,199,359 (GRCm39)	makesense	probably null
R7132:Serpinb3c	UTSW	1	107,204,681 (GRCm39)	missense	probably damaging	0.96
R7161:Serpinb3c	UTSW	1	107,200,892 (GRCm39)	missense	probably null	1.00
R7319:Serpinb3c	UTSW	1	107,200,817 (GRCm39)	missense	possibly damaging	0.92
R7437:Serpinb3c	UTSW	1	107,199,444 (GRCm39)	missense	probably damaging	1.00
R7871:Serpinb3c	UTSW	1	107,200,883 (GRCm39)	missense	possibly damaging	0.95
R7922:Serpinb3c	UTSW	1	107,199,744 (GRCm39)	missense	probably damaging	1.00
R7924:Serpinb3c	UTSW	1	107,200,904 (GRCm39)	missense	probably damaging	1.00
R8114:Serpinb3c	UTSW	1	107,204,034 (GRCm39)	missense	probably benign	0.03
R8189:Serpinb3c	UTSW	1	107,204,039 (GRCm39)	missense	probably benign	0.00
R8384:Serpinb3c	UTSW	1	107,199,697 (GRCm39)	missense	probably benign	0.02
R9042:Serpinb3c	UTSW	1	107,199,731 (GRCm39)	missense	probably damaging	1.00
R9518:Serpinb3c	UTSW	1	107,200,468 (GRCm39)	missense	probably damaging	0.99
R9566:Serpinb3c	UTSW	1	107,200,425 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAGGCATCAAGCTTTATGC -3'
(R):5'- TCTAGTTAGAAGTACATTGCCGAAG -3'

Sequencing Primer
(F):5'- GCTCATTTGCTTATACACTGACAGAG -3'
(R):5'- ATGAACTGATAATTACAGAGAGATGC -3'

Posted On

2016-08-04