Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Semp2l2a'

409890

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Semp2l2a

Ensembl Gene

ENSMUSG00000057116

Gene Name

SUMO/sentrin specific peptidase 2-like 2A

Synonyms

AF366264

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.535) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

13885233-13888389 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 13888096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071308]

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	322	501	1.9e-45	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,619,424 (GRCm39)	G921S	probably benign	Het
Abca8b	T	C	11: 109,838,007 (GRCm39)	T1082A	possibly damaging	Het
B9d2	T	C	7: 25,380,901 (GRCm39)		probably null	Het
Bfsp1	T	C	2: 143,669,253 (GRCm39)	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,078,673 (GRCm39)		probably benign	Het
Ccl1	A	G	11: 82,068,896 (GRCm39)	I47T	probably damaging	Het
Cln3	T	C	7: 126,174,569 (GRCm39)	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,290,173 (GRCm39)	R242I	possibly damaging	Het
Dcc	T	C	18: 71,553,344 (GRCm39)	T771A	probably benign	Het
Erbb4	T	C	1: 68,081,878 (GRCm39)	D1052G	probably benign	Het
Fcnb	T	C	2: 27,966,630 (GRCm39)	N301S	probably benign	Het
Gm28043	A	C	17: 29,853,705 (GRCm39)	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804 (GRCm39)		probably benign	Het
Ighv5-12	T	A	12: 113,666,198 (GRCm39)	M1L	probably benign	Het
Il17rd	A	G	14: 26,815,352 (GRCm39)		probably null	Het
Kcnn3	T	A	3: 89,574,468 (GRCm39)	L660Q	probably damaging	Het
Lcor	C	T	19: 41,546,808 (GRCm39)	P131S	probably damaging	Het
Leng1	T	C	7: 3,668,409 (GRCm39)	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,468,160 (GRCm39)	V827A	probably damaging	Het
Mapk13	A	G	17: 28,996,709 (GRCm39)	Y208C	probably benign	Het
Mybpc3	T	C	2: 90,954,848 (GRCm39)	V453A	probably damaging	Het
Odam	T	C	5: 88,033,613 (GRCm39)	S15P	unknown	Het
Or11l3	A	T	11: 58,516,269 (GRCm39)	V201D	probably damaging	Het
Or8d1	A	T	9: 38,766,526 (GRCm39)	H56L	probably damaging	Het
Pcdhb19	T	C	18: 37,632,618 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,372,341 (GRCm39)	Y244*	probably null	Het
Pik3ca	A	T	3: 32,514,084 (GRCm39)	I857F	probably damaging	Het
Pold1	T	A	7: 44,188,824 (GRCm39)	I447F	probably benign	Het
Ppm1f	T	A	16: 16,731,942 (GRCm39)	W131R	probably null	Het
Ppp2r2c	A	G	5: 37,083,660 (GRCm39)	Y67C	probably damaging	Het
Psmb10	A	T	8: 106,663,532 (GRCm39)	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470 (GRCm39)	A149V	probably benign	Het
Pygb	T	A	2: 150,662,731 (GRCm39)	V566E	probably benign	Het
Rictor	G	A	15: 6,788,999 (GRCm39)	R205Q	possibly damaging	Het
Ryr1	T	A	7: 28,715,211 (GRCm39)	R4638W	unknown	Het
Septin3	G	A	15: 82,168,715 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,313 (GRCm39)	D198V	probably benign	Het
Slc27a6	C	A	18: 58,689,815 (GRCm39)	H94N	probably benign	Het
Taf2	C	T	15: 54,915,559 (GRCm39)	V456M	probably damaging	Het
Tbpl2	T	C	2: 23,977,301 (GRCm39)	E238G	probably benign	Het
Ttn	C	T	2: 76,584,551 (GRCm39)	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,912,000 (GRCm39)		probably benign	Het
Zfp865	T	C	7: 5,037,644 (GRCm39)		probably benign	Het

Other mutations in Semp2l2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02291:Semp2l2a	APN	8	13,887,704 (GRCm39)	missense	probably benign	0.03
IGL02647:Semp2l2a	APN	8	13,886,979 (GRCm39)	missense	probably damaging	0.96
FR4342:Semp2l2a	UTSW	8	13,887,613 (GRCm39)	missense	probably benign	0.00
R0636:Semp2l2a	UTSW	8	13,887,870 (GRCm39)	missense	probably benign	0.00
R1796:Semp2l2a	UTSW	8	13,886,816 (GRCm39)	nonsense	probably null
R1913:Semp2l2a	UTSW	8	13,887,143 (GRCm39)	missense	probably benign	0.16
R2353:Semp2l2a	UTSW	8	13,886,951 (GRCm39)	missense	probably damaging	1.00
R2944:Semp2l2a	UTSW	8	13,887,212 (GRCm39)	missense	probably damaging	1.00
R3714:Semp2l2a	UTSW	8	13,886,736 (GRCm39)	missense	probably benign	0.04
R4222:Semp2l2a	UTSW	8	13,888,061 (GRCm39)	missense	probably benign
R4628:Semp2l2a	UTSW	8	13,886,625 (GRCm39)	missense	probably damaging	1.00
R4801:Semp2l2a	UTSW	8	13,886,970 (GRCm39)	missense	possibly damaging	0.93
R4802:Semp2l2a	UTSW	8	13,886,970 (GRCm39)	missense	possibly damaging	0.93
R4836:Semp2l2a	UTSW	8	13,888,007 (GRCm39)	missense	probably benign
R5143:Semp2l2a	UTSW	8	13,886,844 (GRCm39)	missense	possibly damaging	0.87
R5637:Semp2l2a	UTSW	8	13,887,713 (GRCm39)	missense	possibly damaging	0.46
R5930:Semp2l2a	UTSW	8	13,887,263 (GRCm39)	missense	probably benign	0.06
R6540:Semp2l2a	UTSW	8	13,887,573 (GRCm39)	missense	probably benign	0.07
R6556:Semp2l2a	UTSW	8	13,887,690 (GRCm39)	nonsense	probably null
R6724:Semp2l2a	UTSW	8	13,887,083 (GRCm39)	missense	probably damaging	1.00
R7131:Semp2l2a	UTSW	8	13,886,982 (GRCm39)	missense	probably damaging	0.98
R7148:Semp2l2a	UTSW	8	13,887,996 (GRCm39)	missense	probably benign	0.01
R7660:Semp2l2a	UTSW	8	13,887,995 (GRCm39)	missense	probably benign	0.06
R8198:Semp2l2a	UTSW	8	13,887,056 (GRCm39)	missense	probably benign	0.11
R8483:Semp2l2a	UTSW	8	13,888,229 (GRCm39)	start gained	probably benign
R9090:Semp2l2a	UTSW	8	13,886,697 (GRCm39)	missense	possibly damaging	0.53
R9271:Semp2l2a	UTSW	8	13,886,697 (GRCm39)	missense	possibly damaging	0.53
X0020:Semp2l2a	UTSW	8	13,886,847 (GRCm39)	nonsense	probably null

Posted On

2016-08-02