Mutagenetix > Incidental Mutation

Incidental Mutation 'R5677:Serpinb3c'

442748

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

043316-MU

Accession Numbers

Essential gene?

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

Stock #

R5677 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107271201-107278371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107271803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 329 (K329N)

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: K329N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: K329N

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: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	C	T	10: 28,986,229	V22I	probably benign	Het
4930430A15Rik	T	C	2: 111,211,565	T342A	probably benign	Het
4931423N10Rik	T	A	2: 23,212,718	L156Q	probably damaging	Het
Abca8a	A	T	11: 110,038,399	V1296D	possibly damaging	Het
Abca8b	C	T	11: 109,940,861	S1328N	probably damaging	Het
Adcy1	G	A	11: 7,161,914	M926I	probably damaging	Het
Aff4	G	T	11: 53,400,275	M687I	possibly damaging	Het
Agbl2	T	A	2: 90,807,978	Y636N	possibly damaging	Het
Agtr1a	A	T	13: 30,381,584	I211F	probably damaging	Het
Alkbh8	T	G	9: 3,385,147	S480A	possibly damaging	Het
Ankrd13b	A	T	11: 77,477,544	V84E	probably damaging	Het
Ap3b1	C	T	13: 94,528,196	T881I	unknown	Het
Apbb1	A	C	7: 105,559,246	D617E	probably damaging	Het
Apobec4	A	G	1: 152,757,282	R354G	probably benign	Het
BC003331	G	A	1: 150,374,837	L319F	probably damaging	Het
Brdt	T	G	5: 107,348,617	C198W	possibly damaging	Het
Cacna1b	G	T	2: 24,679,358	H851Q	possibly damaging	Het
Car2	G	T	3: 14,898,055	V217F	possibly damaging	Het
Ccdc24	A	C	4: 117,869,880		probably benign	Het
Chodl	C	A	16: 78,941,315	A57E	probably damaging	Het
Clgn	G	T	8: 83,409,538	C185F	probably damaging	Het
Cltc	G	T	11: 86,705,242	N1223K	probably damaging	Het
Cnot10	T	C	9: 114,629,093	N115S	probably damaging	Het
Col12a1	T	C	9: 79,699,321	R607G	probably damaging	Het
Cpd	A	G	11: 76,799,825	V835A	probably benign	Het
Csmd3	G	C	15: 48,622,051	L153V	probably damaging	Het
Ctr9	A	G	7: 111,044,002	H527R	probably benign	Het
Cwc22	G	A	2: 77,929,443	R87W	probably damaging	Het
D930020B18Rik	T	A	10: 121,669,201	N107K	probably benign	Het
Dgkg	C	A	16: 22,570,171	V418L	probably benign	Het
Dhx40	A	G	11: 86,800,963		probably null	Het
Diaph1	A	T	18: 37,855,951	M910K	probably damaging	Het
Diras2	T	A	13: 52,507,675	M199L	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock5	T	A	14: 67,777,603	Q1302H	probably benign	Het
Dync1i2	T	C	2: 71,228,623	S90P	probably benign	Het
E2f8	A	T	7: 48,867,195	V812E	probably damaging	Het
Egfem1	C	A	3: 29,690,174	Q521K	probably damaging	Het
Fbxl18	A	T	5: 142,878,720	C699*	probably null	Het
Fgf3	C	T	7: 144,838,783	R26*	probably null	Het
Fpr-rs7	T	G	17: 20,114,103	I42L	probably benign	Het
Gm13101	A	T	4: 143,965,138	D338E	possibly damaging	Het
Gm3159	T	A	14: 4,398,582	M91K	probably damaging	Het
Gprin3	A	G	6: 59,353,892	S477P	possibly damaging	Het
Grm8	A	T	6: 27,761,204		probably null	Het
Hepacam2	A	T	6: 3,466,142	D420E	probably damaging	Het
Hmcn1	A	T	1: 150,609,778	W4358R	probably benign	Het
Ifna6	G	A	4: 88,827,719	A102T	probably benign	Het
Ighv2-2	T	C	12: 113,588,522	Q32R	probably benign	Het
Igkv1-131	T	A	6: 67,766,258	Q47L	possibly damaging	Het
Il16	T	C	7: 83,674,553	E263G	probably damaging	Het
Kansl1	A	T	11: 104,335,148	C981S	probably benign	Het
Lrp1	A	T	10: 127,574,429	F1483I	probably damaging	Het
Ltf	T	C	9: 111,020,912	M1T	probably null	Het
Ly75	C	T	2: 60,299,082	R1653H	probably benign	Het
Macrod2	T	C	2: 142,176,667	F240S	probably damaging	Het
Man1c1	T	C	4: 134,569,060	E433G	probably damaging	Het
Mansc4	A	T	6: 147,081,549	M130K	probably benign	Het
Mccc1	C	T	3: 35,990,048		probably null	Het
Mink1	G	T	11: 70,605,165	R75L	possibly damaging	Het
Mst1	A	G	9: 108,081,286	D65G	probably damaging	Het
Myo9b	C	T	8: 71,343,686	A857V	probably damaging	Het
Ndufa4	A	G	6: 11,900,575	V70A	probably benign	Het
Npat	T	A	9: 53,555,100	S230T	probably benign	Het
Nr1d1	A	G	11: 98,771,308	Y167H	probably damaging	Het
Oca2	A	G	7: 56,414,462	D735G	probably damaging	Het
Olfr13	T	C	6: 43,174,331	V115A	probably benign	Het
Olfr1359	C	T	13: 21,703,223	T74I	probably benign	Het
Olfr1383	A	G	11: 49,523,944	T74A	probably damaging	Het
Olfr835	T	A	9: 19,035,558	I145N	possibly damaging	Het
Otop1	A	G	5: 38,300,163	Y422C	probably damaging	Het
Pde4dip	G	A	3: 97,841,648	R126*	probably null	Het
Pdp2	C	T	8: 104,594,688	P390S	probably damaging	Het
Pds5b	A	T	5: 150,716,461	T14S	possibly damaging	Het
Pfkp	T	C	13: 6,588,595	E580G	probably damaging	Het
Piezo2	G	C	18: 63,117,697	L444V	probably benign	Het
Piezo2	A	T	18: 63,117,696	L212Q	possibly damaging	Het
Pla2g4d	T	A	2: 120,278,948	T207S	possibly damaging	Het
Plk2	C	A	13: 110,399,057	T471K	possibly damaging	Het
Ppp1r3g	G	A	13: 35,969,262	E222K	probably damaging	Het
Prkcg	A	G	7: 3,323,458	D480G	probably damaging	Het
Pxdc1	T	A	13: 34,652,195	T81S	probably benign	Het
Rnf150	A	T	8: 83,003,599	K253*	probably null	Het
Rsg1	C	T	4: 141,219,866	P186L	probably benign	Het
Sae1	T	C	7: 16,370,462		probably null	Het
Scin	C	T	12: 40,063,259	D538N	probably damaging	Het
Sgo2b	T	A	8: 63,926,974	K941N	possibly damaging	Het
Six1	C	T	12: 73,046,284	S48N	possibly damaging	Het
Slc39a8	G	A	3: 135,884,688	G381R	probably damaging	Het
Slc9b1	A	G	3: 135,357,559	K35E	unknown	Het
Srek1	C	T	13: 103,759,244	A274T	probably damaging	Het
Steap2	A	T	5: 5,677,497	Y279*	probably null	Het
Svil	T	A	18: 5,046,823	L110*	probably null	Het
Syncrip	T	C	9: 88,456,709		probably benign	Het
Tcf20	A	G	15: 82,853,242	I1336T	probably benign	Het
Tecpr1	T	A	5: 144,218,633	K36*	probably null	Het
Tenm2	A	G	11: 36,141,683	V670A	probably damaging	Het
Thbd	G	A	2: 148,407,366	T194I	probably damaging	Het
Tm9sf2	A	T	14: 122,151,962		probably null	Het
Tmtc4	A	T	14: 122,950,499	I225N	probably damaging	Het
Tpp1	C	T	7: 105,747,536	V425M	probably damaging	Het
Trbc2	T	A	6: 41,547,812	Y144*	probably null	Het
Trps1	T	C	15: 50,846,108	D282G	probably damaging	Het
Tsc22d4	T	A	5: 137,747,142	S9R	probably damaging	Het
Upp1	T	A	11: 9,136,025	D287E	probably benign	Het
Uso1	A	C	5: 92,201,299	Q916H	probably damaging	Het
Uty	T	A	Y: 1,134,902	Y884F	probably damaging	Het
Vmn1r222	T	C	13: 23,232,780	R88G	probably damaging	Het
Vmn1r79	T	C	7: 12,177,001	V270A	possibly damaging	Het
Zbtb22	T	C	17: 33,917,735	S285P	probably benign	Het
Zfp385a	A	G	15: 103,318,065	V82A	probably damaging	Het
Zfp59	T	C	7: 27,854,169	F349L	probably benign	Het
Zfp780b	T	G	7: 27,962,799	H777P	probably benign	Het
Zfp82	T	C	7: 30,057,124	T178A	probably benign	Het
Zfp850	T	C	7: 27,989,088	Y565C	probably damaging	Het
Zfp957	A	G	14: 79,212,767	Y531H	probably 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
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
R7924:Serpinb3c	UTSW	1	107,273,174 (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'- GACACCACACTTAAGGGGAG -3'
(R):5'- CTCACTGCTGCCAAGTTACTAG -3'

Sequencing Primer
(F):5'- CACTTAAGGGGAGGAGATTCTGCC -3'
(R):5'- TGCTGCCAAGTTACTAGAGTGGAC -3'

Posted On

2016-11-09