Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Serpinb3c'

557544

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: 0.098) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107271201-107278371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107273162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 175 (N175S)

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: N175S

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

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: N175S

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

Predicted Effect

probably null
Transcript: ENSMUST00000166100

SMART Domains

Protein: ENSMUSP00000132370
Gene: ENSMUSG00000073602

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

Meta Mutation Damage Score

0.7247

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	probably benign	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
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
R7922:Serpinb3c	UTSW	1	107272014	missense	probably damaging	1.00
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'- TCTTTGAAGATAGAACCCTGAGG -3'
(R):5'- AGCACATTGAGGAAGGCTATATCC -3'

Sequencing Primer
(F):5'- GGTTTTTTGAGGTCTACACA -3'
(R):5'- GGAAGGCTATATCCTATGAACAGATC -3'

Posted On

2019-06-26