Mutagenetix > Incidental Mutation

Incidental Mutation 'R3714:Semp2l2a'

259794

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2a

Ensembl Gene

ENSMUSG00000057116

Gene Name

SUMO/sentrin specific peptidase 2-like 2A

Synonyms

AF366264

MMRRC Submission

040707-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.485) question?

Stock #

R3714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13885233-13888389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 13886736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 452 (I452L)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

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

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308
AA Change: I452L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: I452L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adck5	G	A	15: 76,478,138 (GRCm39)	V229I	probably damaging	Het
Afg2a	G	A	3: 37,487,358 (GRCm39)	V407I	probably benign	Het
Ankk1	T	G	9: 49,333,013 (GRCm39)	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,106,551 (GRCm39)	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,890,287 (GRCm39)	S260G	probably benign	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Cibar2	C	T	8: 120,901,576 (GRCm39)	R43H	probably damaging	Het
Cntnap5c	C	T	17: 58,199,062 (GRCm39)	Q119*	probably null	Het
Cpb2	T	A	14: 75,520,657 (GRCm39)		probably null	Het
Ddx47	T	A	6: 134,996,025 (GRCm39)	I329K	probably damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Fcsk	G	T	8: 111,613,891 (GRCm39)	D723E	probably damaging	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Garem1	T	A	18: 21,281,947 (GRCm39)	E136D	probably damaging	Het
Haus6	A	G	4: 86,521,104 (GRCm39)	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,675,480 (GRCm39)	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,236 (GRCm39)	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,003,683 (GRCm39)	H146Y	probably damaging	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Mb	A	G	15: 76,901,789 (GRCm39)	V102A	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,088,255 (GRCm39)	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,448,808 (GRCm39)	V337A	probably benign	Het
Npm2	T	C	14: 70,890,060 (GRCm39)		probably null	Het
Or10ab4	T	C	7: 107,654,642 (GRCm39)	F151S	probably damaging	Het
Or2h2c	A	G	17: 37,422,227 (GRCm39)	Y216H	probably damaging	Het
Or4a68	G	A	2: 89,269,727 (GRCm39)	L299F	probably damaging	Het
Prdm9	T	A	17: 15,777,623 (GRCm39)	K154*	probably null	Het
Prkch	C	T	12: 73,822,290 (GRCm39)	P630S	probably damaging	Het
Ptprn	T	C	1: 75,229,411 (GRCm39)		probably null	Het
Rnf31	T	A	14: 55,840,851 (GRCm39)	D884E	probably damaging	Het
Slc22a27	A	T	19: 7,903,815 (GRCm39)	N107K	possibly damaging	Het
Tln1	G	T	4: 43,540,597 (GRCm39)	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,454,781 (GRCm39)	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,958,351 (GRCm39)		probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	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
IGL03118:Semp2l2a	APN	8	13,888,096 (GRCm39)	utr 5 prime	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGGTGGATGTTGTTACAG -3'
(R):5'- ATGGACTCGTGGCATCAATC -3'

Sequencing Primer
(F):5'- AGTAATTGACTGTGCAGGATTTCCC -3'
(R):5'- AAGAACTCATCTTGGTGCCTATTCAC -3'

Posted On

2015-01-23