Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Serpinb3c'

648418

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107271201-107278371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107272014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 259 (T259I)

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: T259I

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

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: T259I

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,164,406	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 68,949,996		probably null	Het
Abi3	A	T	11: 95,832,793	Y342N	unknown	Het
Adk	G	A	14: 21,318,043	V195I	probably benign	Het
Ago2	C	T	15: 73,126,526	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,999,753	I1077V	probably benign	Het
Arap1	A	T	7: 101,404,414	K1317*	probably null	Het
Auts2	T	A	5: 131,440,373	D493V		Het
Baz1b	A	T	5: 135,231,679	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,993,220	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,274,884	M511K	probably benign	Het
Cdh23	T	A	10: 60,382,706	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,403,980	L427V	unknown	Het
Cnga1	A	G	5: 72,604,882	F430L	possibly damaging	Het
Dnhd1	A	T	7: 105,668,514	D472V	probably damaging	Het
Dock2	T	A	11: 34,707,327	E339V	probably benign	Het
Eif3a	A	T	19: 60,775,842	V379E	probably damaging	Het
Erich4	T	A	7: 25,615,743	N36Y	probably damaging	Het
Fam60a	T	A	6: 148,926,146	T125S	probably benign	Het
Frem2	T	C	3: 53,653,304	T1261A	probably damaging	Het
Fzd6	A	T	15: 39,031,108	D223V	probably damaging	Het
Gabra2	A	T	5: 71,007,972	Y218*	probably null	Het
Gcn1l1	G	T	5: 115,614,468	M2177I	probably benign	Het
Ghr	G	A	15: 3,341,074	T103I	possibly damaging	Het
Gipc1	T	C	8: 83,661,228	V79A	probably benign	Het
Gm10031	A	T	1: 156,524,992	L254F	probably damaging	Het
Gm13272	T	A	4: 88,780,340	V164D	probably damaging	Het
Gramd4	C	A	15: 86,131,958	H503Q	probably benign	Het
Gstm4	A	T	3: 108,044,671	M1K	probably null	Het
Heatr5b	T	A	17: 78,760,559	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,790,195	K826*	probably null	Het
Hoxa9	T	C	6: 52,224,309	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,674,366	I46F	possibly damaging	Het
Ints2	T	A	11: 86,244,627	R320S	probably benign	Het
Iscu	A	T	5: 113,774,282	N46I	probably damaging	Het
Iscu	G	A	5: 113,774,349	R60Q	unknown	Het
Kcnk3	A	T	5: 30,588,531	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,842,860	S1228R	unknown	Het
Mbl2	T	A	19: 30,239,238	L150Q	probably damaging	Het
Med13	A	T	11: 86,271,005	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,301,553	L246*	probably null	Het
Muc16	T	C	9: 18,584,825	Q6690R	probably benign	Het
Myh10	T	A	11: 68,808,893	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,327,628	M237V	probably benign	Het
Olfml1	A	G	7: 107,571,149	Y81C	probably damaging	Het
Olfr735	A	G	14: 50,346,415	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,716,173	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,763,949	F691L	probably benign	Het
Pik3c2a	A	G	7: 116,391,282	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,533,875	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,849,013	H2250Y		Het
Pkd1l1	A	G	11: 8,909,857	S1034P		Het
Plcd1	C	A	9: 119,074,652	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,954,617	T58A	probably benign	Het
Ppp5c	T	C	7: 17,027,800	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,447,968	F82L	probably benign	Het
Prkag3	A	T	1: 74,741,257	S416R	probably benign	Het
Rab3gap2	T	C	1: 185,249,920	C390R	probably benign	Het
Rhot1	A	G	11: 80,265,803	T655A	probably benign	Het
Rorc	A	G	3: 94,391,188	I348V	probably damaging	Het
Ryr1	A	T	7: 29,097,224	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,658,256		probably null	Het
Sh3gl1	A	T	17: 56,019,438	M70K	probably damaging	Het
Slc7a4	C	T	16: 17,573,366	V607I	probably benign	Het
Spop	A	T	11: 95,471,328	N62Y	probably damaging	Het
Spout1	A	G	2: 30,176,811	F130S	probably benign	Het
Tab1	A	G	15: 80,158,865	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,932,642		probably null	Het
Tnxb	G	C	17: 34,714,603	K2332N	probably damaging	Het
Togaram1	T	C	12: 64,967,738	Y588H	probably damaging	Het
Trim71	G	A	9: 114,513,085	R710C	probably damaging	Het
Tsen54	C	T	11: 115,820,782	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812	N235K	unknown	Het
Utrn	C	A	10: 12,667,527	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 21,133,662	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 20,167,711	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,524,683	R369W	probably damaging	Het
Vwa7	G	T	17: 35,024,433	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,425,722	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,875	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,381,537	V415D	possibly damaging	Het
Zfp553	A	G	7: 127,236,596	H441R	probably damaging	Het

Other mutations in Serpinb3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Serpinb3c	APN	1	107276260	critical splice donor site	probably null
IGL01349:Serpinb3c	APN	1	107272783	missense	probably damaging	1.00
IGL01730:Serpinb3c	APN	1	107273184	missense	probably damaging	0.99
IGL01732:Serpinb3c	APN	1	107271972	missense	probably benign
IGL02184:Serpinb3c	APN	1	107271918	missense	probably damaging	0.96
IGL02742:Serpinb3c	APN	1	107273142	nonsense	probably null
IGL03131:Serpinb3c	APN	1	107271727	missense	probably benign	0.09
IGL03394:Serpinb3c	APN	1	107271873	missense	probably benign	0.00
BB001:Serpinb3c	UTSW	1	107273174	missense	probably damaging	1.00
BB011:Serpinb3c	UTSW	1	107273174	missense	probably damaging	1.00
R0207:Serpinb3c	UTSW	1	107276992	missense	probably benign	0.02
R0508:Serpinb3c	UTSW	1	107276921	missense	probably damaging	1.00
R1542:Serpinb3c	UTSW	1	107272787	missense	probably damaging	1.00
R1660:Serpinb3c	UTSW	1	107271702	missense	probably damaging	1.00
R1731:Serpinb3c	UTSW	1	107271774	missense	probably damaging	0.99
R2012:Serpinb3c	UTSW	1	107271844	missense	possibly damaging	0.92
R5361:Serpinb3c	UTSW	1	107276931	nonsense	probably null
R5464:Serpinb3c	UTSW	1	107271704	missense	probably damaging	0.99
R5636:Serpinb3c	UTSW	1	107275014	missense	possibly damaging	0.57
R5677:Serpinb3c	UTSW	1	107271803	missense	probably damaging	1.00
R5965:Serpinb3c	UTSW	1	107276923	missense	probably benign	0.01
R6424:Serpinb3c	UTSW	1	107271629	makesense	probably null
R7132:Serpinb3c	UTSW	1	107276951	missense	probably damaging	0.96
R7161:Serpinb3c	UTSW	1	107273162	missense	probably null	1.00
R7319:Serpinb3c	UTSW	1	107273087	missense	possibly damaging	0.92
R7437:Serpinb3c	UTSW	1	107271714	missense	probably damaging	1.00
R7871:Serpinb3c	UTSW	1	107273153	missense	possibly damaging	0.95
R7924:Serpinb3c	UTSW	1	107273174	missense	probably damaging	1.00
R8114:Serpinb3c	UTSW	1	107276304	missense	probably benign	0.03
R8189:Serpinb3c	UTSW	1	107276309	missense	probably benign	0.00
R8384:Serpinb3c	UTSW	1	107271967	missense	probably benign	0.02
R9042:Serpinb3c	UTSW	1	107272001	missense	probably damaging	1.00
R9518:Serpinb3c	UTSW	1	107272738	missense	probably damaging	0.99
R9566:Serpinb3c	UTSW	1	107272695	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCACGAGACCTTGAGTG -3'
(R):5'- TGATGCCACTCATATAGAACAACTC -3'

Sequencing Primer
(F):5'- ACGAGACCTTGAGTGCTGCTC -3'
(R):5'- GAACAACTCAAACTTGGTTGAAAG -3'

Posted On

2020-09-15