Mutagenetix > Incidental Mutation

Incidental Mutation 'R7437:Serpinb3c'

576652

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: 0.083) question?

Stock #

R7437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107271201-107278371 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107271714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 359 (F359Y)

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: F359Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: F359Y

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

Meta Mutation Damage Score

0.5036

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,400,498	I1192F	probably damaging	Het
Abca8a	A	G	11: 110,050,964	S1160P	probably benign	Het
Adamtsl2	A	G	2: 27,089,709	I297V	probably damaging	Het
Aebp1	T	A	11: 5,869,757	F687L	possibly damaging	Het
Ahsa1	A	G	12: 87,268,156	T28A	probably damaging	Het
Akap3	A	T	6: 126,865,655	K412N	probably damaging	Het
Atl1	A	G	12: 69,931,622	I123V	probably benign	Het
Atp10a	G	A	7: 58,658,540	R29H	unknown	Het
C4b	T	C	17: 34,734,733	D967G	probably benign	Het
Ccdc186	T	C	19: 56,806,997	N416S	probably damaging	Het
Ccna2	T	C	3: 36,571,090		probably benign	Het
Cep70	T	C	9: 99,291,529	L371P	probably damaging	Het
Cfap46	A	T	7: 139,650,837	C958*	probably null	Het
Crlf2	T	C	5: 109,554,973	D318G	probably benign	Het
Csf1	T	C	3: 107,750,756	N14D	probably benign	Het
Dars	A	G	1: 128,372,204	Y348H	possibly damaging	Het
Dnah2	T	C	11: 69,498,627	E813G	probably damaging	Het
Ebi3	T	A	17: 55,954,410	M102K	probably benign	Het
Epg5	A	G	18: 78,023,278	D2131G	probably benign	Het
Fam186a	A	T	15: 99,942,894	L1823H	probably damaging	Het
Fam213b	C	A	4: 154,896,596	C194F	possibly damaging	Het
H2-M3	T	C	17: 37,272,678	M309T	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ino80	A	G	2: 119,442,586	S470P	possibly damaging	Het
Kcnh5	C	T	12: 75,137,643		probably null	Het
Kif24	T	C	4: 41,404,687	T438A	possibly damaging	Het
Kndc1	G	A	7: 139,909,043	G205R	probably damaging	Het
Lrp1b	A	T	2: 40,822,645	Y3226N		Het
Lrp1b	G	T	2: 40,822,646	D3225E		Het
Megf10	G	C	18: 57,262,131	G522R	probably damaging	Het
Mgea5	A	T	19: 45,778,607	M110K	possibly damaging	Het
Nectin2	A	T	7: 19,749,268	L12*	probably null	Het
Ngef	A	T	1: 87,480,605	M580K	probably damaging	Het
Olfr1118	A	G	2: 87,309,343	M205V	probably benign	Het
Olfr1437	T	C	19: 12,322,108	N240D	probably damaging	Het
Olfr376	A	G	11: 73,375,018	S93G	probably benign	Het
Pcdhb13	T	C	18: 37,444,675	L702P	probably damaging	Het
Pcdhb17	A	G	18: 37,486,092	I312V	probably benign	Het
Pglyrp3	A	G	3: 92,030,678	N265D	probably benign	Het
Pkd1l2	A	G	8: 117,030,682	V1539A	probably damaging	Het
Rcn2	T	C	9: 56,058,069	L274P	probably damaging	Het
Rpp30	A	G	19: 36,104,438	E267G	possibly damaging	Het
Rundc3a	A	G	11: 102,398,404	M134V	probably damaging	Het
Samd3	A	T	10: 26,270,106	Q343L	possibly damaging	Het
Slc9a9	T	C	9: 95,228,941	L604P	probably benign	Het
Strn3	A	T	12: 51,610,163	H777Q	probably damaging	Het
Tap1	G	A	17: 34,190,642	W284*	probably null	Het
Tmem136	C	T	9: 43,111,785	W91*	probably null	Het
Tmem181a	A	G	17: 6,303,265	D384G	possibly damaging	Het
Txndc12	T	C	4: 108,856,171	S77P	probably damaging	Het
Wnt16	G	A	6: 22,288,561	V19M	probably benign	Het
Zfp932	T	A	5: 110,010,014	M526K	probably benign	Het
Zfp959	G	T	17: 55,898,334	C457F	probably damaging	Het
Zscan4-ps3	T	C	7: 11,612,936	S300P	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
R7161:Serpinb3c	UTSW	1	107273162	missense	probably null	1.00
R7319:Serpinb3c	UTSW	1	107273087	missense	possibly damaging	0.92
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'- TGCATTCTTAGCAGAGACTTGG -3'
(R):5'- CCATTGGAATGCATGGGGATG -3'

Sequencing Primer
(F):5'- GCATTCTTAGCAGAGACTTGGATATG -3'
(R):5'- GGTCAATGCCTTTGATCCACAGAAG -3'

Posted On

2019-10-07