Mutagenetix > Incidental Mutation

Incidental Mutation 'R5636:Serpinb3c'

440345

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

043287-MU

Accession Numbers

Essential gene?

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

Stock #

R5636 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107198931-107206101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107202744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 88 (Q88R)

Ref Sequence

ENSEMBL: ENSMUSP00000027565 (fasta)

Gene Model

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

AlphaFold

A2RSF9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027565
AA Change: Q88R

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: Q88R

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: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,922,382 (GRCm39)	Q448*	probably null	Het
Abca5	A	G	11: 110,192,362 (GRCm39)	Y717H	probably benign	Het
Abcg2	T	A	6: 58,649,041 (GRCm39)	D295E	probably damaging	Het
Accsl	C	T	2: 93,699,370 (GRCm39)	E7K	probably benign	Het
Acvr2b	A	G	9: 119,257,375 (GRCm39)	Y152C	probably damaging	Het
Akap13	A	G	7: 75,354,120 (GRCm39)	E1747G	probably damaging	Het
Arpp19	C	T	9: 74,945,215 (GRCm39)		probably benign	Het
Atp10d	A	G	5: 72,445,562 (GRCm39)	Y74C	probably damaging	Het
Atp6v0b	T	C	4: 117,743,582 (GRCm39)		probably benign	Het
Bms1	C	A	6: 118,365,786 (GRCm39)	M1133I	probably benign	Het
Bysl	A	C	17: 47,913,648 (GRCm39)	D259E	probably benign	Het
Capn1	A	T	19: 6,064,472 (GRCm39)	V9E	probably benign	Het
Cdkl2	T	C	5: 92,181,601 (GRCm39)	I127V	probably benign	Het
Cyp2c38	G	A	19: 39,426,750 (GRCm39)	Q184*	probably null	Het
Cypt12	C	T	3: 18,002,749 (GRCm39)	R41C	probably benign	Het
Dnaaf11	A	T	15: 66,372,665 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,173,307 (GRCm39)	I2469V	probably damaging	Het
Fbxo38	A	G	18: 62,644,089 (GRCm39)	V923A	possibly damaging	Het
Gm13889	A	G	2: 93,787,031 (GRCm39)	C148R	probably damaging	Het
Gpd1	A	T	15: 99,619,939 (GRCm39)	T223S	probably benign	Het
Hcrtr1	C	A	4: 130,024,738 (GRCm39)	G383C	possibly damaging	Het
Hivep1	C	T	13: 42,316,932 (GRCm39)	P2047S	possibly damaging	Het
Islr2	T	C	9: 58,108,584 (GRCm39)	T35A	probably benign	Het
Lgr6	T	C	1: 134,914,816 (GRCm39)	D644G	probably benign	Het
Mdn1	C	T	4: 32,695,480 (GRCm39)	T1173I	probably damaging	Het
Mon1a	T	C	9: 107,778,439 (GRCm39)	V221A	probably damaging	Het
Mrgprb4	A	G	7: 47,848,218 (GRCm39)	C237R	probably benign	Het
Myo1b	A	G	1: 51,836,687 (GRCm39)	M264T	probably damaging	Het
Naxd	A	G	8: 11,552,676 (GRCm39)	N32S	probably benign	Het
Nlrp12	A	T	7: 3,273,926 (GRCm39)	L1010Q	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Nuggc	A	T	14: 65,885,637 (GRCm39)	K755*	probably null	Het
Or2av9	T	C	11: 58,380,877 (GRCm39)	K235E	probably damaging	Het
Or9i2	C	T	19: 13,815,701 (GRCm39)	V279M	possibly damaging	Het
Pik3ca	G	A	3: 32,515,709 (GRCm39)	R794Q	probably damaging	Het
Pnp2	A	G	14: 51,193,649 (GRCm39)		probably null	Het
Ric3	G	A	7: 108,638,027 (GRCm39)	T242I	probably damaging	Het
Rnf213	A	C	11: 119,327,731 (GRCm39)	Q1906P	probably damaging	Het
Rnf213	G	A	11: 119,327,455 (GRCm39)	R1814K	probably benign	Het
Rufy2	T	A	10: 62,833,733 (GRCm39)	I265N	probably damaging	Het
Scap	G	T	9: 110,209,662 (GRCm39)	G744C	probably damaging	Het
Sf3b1	T	C	1: 55,036,352 (GRCm39)	D907G	probably damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc4a3	C	T	1: 75,530,860 (GRCm39)	L749F	possibly damaging	Het
Smtn	T	G	11: 3,467,829 (GRCm39)		probably null	Het
Spag9	C	A	11: 93,959,838 (GRCm39)	D342E	probably damaging	Het
Sptbn5	G	A	2: 119,887,885 (GRCm39)		probably benign	Het
Stam	G	T	2: 14,122,238 (GRCm39)	M112I	probably damaging	Het
Tex35	C	T	1: 156,927,794 (GRCm39)	W125*	probably null	Het
Tmem215	A	G	4: 40,474,394 (GRCm39)	E157G	probably damaging	Het
Traf6	G	A	2: 101,527,254 (GRCm39)	V335M	probably benign	Het
Ubr5	T	A	15: 37,984,240 (GRCm39)	K2302N	probably damaging	Het
Vmn2r78	A	G	7: 86,603,637 (GRCm39)	H605R	probably damaging	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
R5361:Serpinb3c	UTSW	1	107,204,661 (GRCm39)	nonsense	probably null
R5464:Serpinb3c	UTSW	1	107,199,434 (GRCm39)	missense	probably damaging	0.99
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'- AAGTGTTGTCTATGTGAATCTGCC -3'
(R):5'- GGCATATGCTATCTTATAGGTAGAGG -3'

Sequencing Primer
(F):5'- CTATGTGAATCTGCCTGGTATTATG -3'
(R):5'- TTTGAAATAGGCAAACAGCATAACC -3'

Posted On

2016-11-08