Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Serpinb3c'

410310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serpinb3c

Ensembl Gene

ENSMUSG00000073601

Gene Name

serine (or cysteine) peptidase inhibitor, clade B, member 3C

Synonyms

ovalbumin, Serpinb4, 1110013A16Rik, 1110001H02Rik, Scca2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

107198931-107206101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107199457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 355 (Q355K)

Ref Sequence

ENSEMBL: ENSMUSP00000027565 (fasta)

Gene Model

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

AlphaFold

A2RSF9

Predicted Effect

probably benign
Transcript: ENSMUST00000027565
AA Change: Q355K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027565
Gene: ENSMUSG00000073601
AA Change: Q355K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Atg10	C	A	13: 91,085,412 (GRCm39)	R179I	probably null	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Crtap	T	C	9: 114,209,072 (GRCm39)	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myf6	T	A	10: 107,330,132 (GRCm39)	Q145L	probably damaging	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serbp1	T	A	6: 67,258,807 (GRCm39)		probably null	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,721,592 (GRCm39)	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,272,719 (GRCm39)	K618*	probably null	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	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
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
R5636:Serpinb3c	UTSW	1	107,202,744 (GRCm39)	missense	possibly damaging	0.57
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

Posted On

2016-08-02