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: 0.413) question?

Stock #

R4222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13838061 bp (GRCm38)

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: 55,785,121 (GRCm38)	Y127C	probably damaging	Het
Aif1l	A	T	2: 31,962,239 (GRCm38)	S40C	probably damaging	Het
Alkal1	A	G	1: 6,388,615 (GRCm38)	K76R	probably damaging	Het
Atm	T	C	9: 53,480,669 (GRCm38)	S1807G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm38)		noncoding transcript	Het
Brd10	A	T	19: 29,718,749 (GRCm38)	S1115T	probably benign	Het
Cyp3a11	A	T	5: 145,860,466 (GRCm38)	Y368N	probably damaging	Het
Gar1	A	T	3: 129,830,806 (GRCm38)		probably benign	Het
Gm5265	A	T	1: 169,453,801 (GRCm38)		noncoding transcript	Het
Gm7964	T	G	7: 83,756,822 (GRCm38)	N281K	probably damaging	Het
Grin1	T	C	2: 25,297,320 (GRCm38)		probably benign	Het
H1f5	A	T	13: 21,779,977 (GRCm38)		probably benign	Het
Hapln4	T	A	8: 70,086,960 (GRCm38)	W214R	probably damaging	Het
Ift56	A	G	6: 38,395,075 (GRCm38)	Y200C	probably damaging	Het
Irgq	C	A	7: 24,533,625 (GRCm38)	A297D	possibly damaging	Het
Kri1	T	C	9: 21,281,063 (GRCm38)	E145G	probably benign	Het
Lama3	T	C	18: 12,450,403 (GRCm38)	C683R	probably damaging	Het
Mrpl22	T	A	11: 58,171,867 (GRCm38)		probably benign	Het
Myo7a	T	A	7: 98,073,229 (GRCm38)	Q1163L	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm38)	D172E	probably benign	Het
Nrxn3	G	T	12: 89,532,992 (GRCm38)	G718*	probably null	Het
Olfm3	C	T	3: 115,090,171 (GRCm38)	Q41*	probably null	Het
Or52z12	A	G	7: 103,584,759 (GRCm38)	T246A	probably damaging	Het
Or8u8	G	T	2: 86,181,997 (GRCm38)	T38K	probably damaging	Het
Parm1	G	A	5: 91,593,867 (GRCm38)	M31I	probably benign	Het
Phc3	A	T	3: 30,936,819 (GRCm38)	S383R	probably damaging	Het
Pkn2	A	T	3: 142,793,866 (GRCm38)	L950*	probably null	Het
Plec	C	T	15: 76,177,319 (GRCm38)	R2671H	probably damaging	Het
Ptbp1	T	C	10: 79,859,213 (GRCm38)	I125T	probably benign	Het
Ptch1	C	T	13: 63,534,329 (GRCm38)	R537H	probably damaging	Het
Ptk7	A	T	17: 46,574,463 (GRCm38)	M679K	probably benign	Het
Ptx3	C	T	3: 66,224,706 (GRCm38)	T216I	probably damaging	Het
Rrp8	T	C	7: 105,734,022 (GRCm38)	I346V	possibly damaging	Het
Rsrc1	A	G	3: 66,994,567 (GRCm38)	K17E	unknown	Het
Ryr2	T	A	13: 11,737,873 (GRCm38)	E1854V	possibly damaging	Het
Slc25a45	A	T	19: 5,880,118 (GRCm38)	I39F	probably damaging	Het
Spag5	G	A	11: 78,304,511 (GRCm38)	V215I	probably damaging	Het
Ston1	A	G	17: 88,636,771 (GRCm38)	Y535C	probably damaging	Het
Tbc1d14	A	T	5: 36,493,108 (GRCm38)	S395T	probably benign	Het
Tlr11	C	T	14: 50,361,849 (GRCm38)	P431S	probably damaging	Het
Trerf1	G	T	17: 47,314,801 (GRCm38)		noncoding transcript	Het
Trim43b	T	A	9: 89,090,639 (GRCm38)	Q154L	probably benign	Het
Vmn1r49	A	G	6: 90,072,246 (GRCm38)	F258S	probably benign	Het
Vmn1r-ps103	C	A	13: 22,442,028 (GRCm38)		noncoding transcript	Het
Vmn2r14	A	G	5: 109,216,283 (GRCm38)	M589T	probably benign	Het
Vmn2r60	A	T	7: 42,116,528 (GRCm38)	T20S	probably benign	Het
Zbtb5	A	G	4: 44,993,855 (GRCm38)		probably null	Het
Zfp35	T	G	18: 24,003,189 (GRCm38)	F197V	possibly damaging	Het

Other mutations in Semp2l2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02291:Semp2l2a	APN	8	13,837,704 (GRCm38)	missense	probably benign	0.03
IGL02647:Semp2l2a	APN	8	13,836,979 (GRCm38)	missense	probably damaging	0.96
IGL03118:Semp2l2a	APN	8	13,838,096 (GRCm38)	utr 5 prime	probably benign
FR4342:Semp2l2a	UTSW	8	13,837,613 (GRCm38)	missense	probably benign	0.00
R0636:Semp2l2a	UTSW	8	13,837,870 (GRCm38)	missense	probably benign	0.00
R1796:Semp2l2a	UTSW	8	13,836,816 (GRCm38)	nonsense	probably null
R1913:Semp2l2a	UTSW	8	13,837,143 (GRCm38)	missense	probably benign	0.16
R2353:Semp2l2a	UTSW	8	13,836,951 (GRCm38)	missense	probably damaging	1.00
R2944:Semp2l2a	UTSW	8	13,837,212 (GRCm38)	missense	probably damaging	1.00
R3714:Semp2l2a	UTSW	8	13,836,736 (GRCm38)	missense	probably benign	0.04
R4628:Semp2l2a	UTSW	8	13,836,625 (GRCm38)	missense	probably damaging	1.00
R4801:Semp2l2a	UTSW	8	13,836,970 (GRCm38)	missense	possibly damaging	0.93
R4802:Semp2l2a	UTSW	8	13,836,970 (GRCm38)	missense	possibly damaging	0.93
R4836:Semp2l2a	UTSW	8	13,838,007 (GRCm38)	missense	probably benign
R5143:Semp2l2a	UTSW	8	13,836,844 (GRCm38)	missense	possibly damaging	0.87
R5637:Semp2l2a	UTSW	8	13,837,713 (GRCm38)	missense	possibly damaging	0.46
R5930:Semp2l2a	UTSW	8	13,837,263 (GRCm38)	missense	probably benign	0.06
R6540:Semp2l2a	UTSW	8	13,837,573 (GRCm38)	missense	probably benign	0.07
R6556:Semp2l2a	UTSW	8	13,837,690 (GRCm38)	nonsense	probably null
R6724:Semp2l2a	UTSW	8	13,837,083 (GRCm38)	missense	probably damaging	1.00
R7131:Semp2l2a	UTSW	8	13,836,982 (GRCm38)	missense	probably damaging	0.98
R7148:Semp2l2a	UTSW	8	13,837,996 (GRCm38)	missense	probably benign	0.01
R7660:Semp2l2a	UTSW	8	13,837,995 (GRCm38)	missense	probably benign	0.06
R8198:Semp2l2a	UTSW	8	13,837,056 (GRCm38)	missense	probably benign	0.11
R8483:Semp2l2a	UTSW	8	13,838,229 (GRCm38)	start gained	probably benign
R9090:Semp2l2a	UTSW	8	13,836,697 (GRCm38)	missense	possibly damaging	0.53
R9271:Semp2l2a	UTSW	8	13,836,697 (GRCm38)	missense	possibly damaging	0.53
X0020:Semp2l2a	UTSW	8	13,836,847 (GRCm38)	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