Mutagenetix > Incidental Mutation

Incidental Mutation 'R4222:Semp2l2a'

319406

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2a

Ensembl Gene

ENSMUSG00000057116

Gene Name

SUMO/sentrin specific peptidase 2-like 2A

Synonyms

AF366264

MMRRC Submission

041042-MU

Accession Numbers

Essential gene?

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

Stock #

R4222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13885233-13888389 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13888061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 10 (E10G)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

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

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308
AA Change: E10G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: E10G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

91% (49/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,092,121 (GRCm39)	Y127C	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Alkal1	A	G	1: 6,458,839 (GRCm39)	K76R	probably damaging	Het
Atm	T	C	9: 53,391,969 (GRCm39)	S1807G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Brd10	A	T	19: 29,696,149 (GRCm39)	S1115T	probably benign	Het
Cyp3a11	A	T	5: 145,797,276 (GRCm39)	Y368N	probably damaging	Het
Gar1	A	T	3: 129,624,455 (GRCm39)		probably benign	Het
Gm5265	A	T	1: 169,281,370 (GRCm39)		noncoding transcript	Het
Gm7964	T	G	7: 83,406,030 (GRCm39)	N281K	probably damaging	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
H1f5	A	T	13: 21,964,147 (GRCm39)		probably benign	Het
Hapln4	T	A	8: 70,539,610 (GRCm39)	W214R	probably damaging	Het
Ift56	A	G	6: 38,372,010 (GRCm39)	Y200C	probably damaging	Het
Irgq	C	A	7: 24,233,050 (GRCm39)	A297D	possibly damaging	Het
Kri1	T	C	9: 21,192,359 (GRCm39)	E145G	probably benign	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Mrpl22	T	A	11: 58,062,693 (GRCm39)		probably benign	Het
Myo7a	T	A	7: 97,722,436 (GRCm39)	Q1163L	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Nrxn3	G	T	12: 89,499,762 (GRCm39)	G718*	probably null	Het
Olfm3	C	T	3: 114,883,820 (GRCm39)	Q41*	probably null	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or8u8	G	T	2: 86,012,341 (GRCm39)	T38K	probably damaging	Het
Parm1	G	A	5: 91,741,726 (GRCm39)	M31I	probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Pkn2	A	T	3: 142,499,627 (GRCm39)	L950*	probably null	Het
Plec	C	T	15: 76,061,519 (GRCm39)	R2671H	probably damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Ptk7	A	T	17: 46,885,389 (GRCm39)	M679K	probably benign	Het
Ptx3	C	T	3: 66,132,127 (GRCm39)	T216I	probably damaging	Het
Rrp8	T	C	7: 105,383,229 (GRCm39)	I346V	possibly damaging	Het
Rsrc1	A	G	3: 66,901,900 (GRCm39)	K17E	unknown	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Spag5	G	A	11: 78,195,337 (GRCm39)	V215I	probably damaging	Het
Ston1	A	G	17: 88,944,199 (GRCm39)	Y535C	probably damaging	Het
Tbc1d14	A	T	5: 36,650,452 (GRCm39)	S395T	probably benign	Het
Tlr11	C	T	14: 50,599,306 (GRCm39)	P431S	probably damaging	Het
Trerf1	G	T	17: 47,625,727 (GRCm39)		noncoding transcript	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Vmn1r49	A	G	6: 90,049,228 (GRCm39)	F258S	probably benign	Het
Vmn1r-ps103	C	A	13: 22,626,198 (GRCm39)		noncoding transcript	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Zbtb5	A	G	4: 44,993,855 (GRCm39)		probably null	Het
Zfp35	T	G	18: 24,136,246 (GRCm39)	F197V	possibly 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
R3714:Semp2l2a	UTSW	8	13,886,736 (GRCm39)	missense	probably benign	0.04
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'- TGTTCTCTCGGGAGCTCTAG -3'
(R):5'- TTTGCGACCTTGGACCAACC -3'

Sequencing Primer
(F):5'- AGCTCTAGGTCTTGAGGCTCC -3'
(R):5'- GCCAGGTATAAGGTTGCT -3'

Posted On

2015-06-10