Mutagenetix > Incidental Mutation

Incidental Mutation 'R3777:Semp2l2b'

271848

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2b

Ensembl Gene

ENSMUSG00000069712

Gene Name

SUMO/sentrin specific peptidase 2-like 2B

Synonyms

4930444G20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R3777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21942208-21943978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21942861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 373 (E373G)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092672]

AlphaFold

D3Z741

Predicted Effect

probably damaging
Transcript: ENSMUST00000092672
AA Change: E373G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: E373G

Domain	Start	End	E-Value	Type
low complexity region	194	205	N/A	INTRINSIC
Pfam:Peptidase_C48	315	494	1.9e-45	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dsg1b	G	A	18: 20,532,644 (GRCm39)	V563I	probably damaging	Het
Elovl4	ACT	A	9: 83,667,201 (GRCm39)		probably null	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fam171b	T	A	2: 83,708,605 (GRCm39)	I369K	probably benign	Het
Fmn1	A	G	2: 113,195,467 (GRCm39)	E389G	unknown	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm5819	A	G	18: 8,694,429 (GRCm39)	E118G	probably damaging	Het
Grip1	G	A	10: 119,821,535 (GRCm39)		probably null	Het
Heatr1	C	A	13: 12,428,229 (GRCm39)	L789I	possibly damaging	Het
Hsd17b1	T	C	11: 100,969,529 (GRCm39)	S59P	probably damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Larp4	T	A	15: 99,888,238 (GRCm39)	W92R	probably damaging	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mfsd4b2	A	G	10: 39,797,527 (GRCm39)	I276T	possibly damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Myl12a	G	T	17: 71,301,631 (GRCm39)	H165Q	possibly damaging	Het
Myo18b	T	A	5: 112,905,462 (GRCm39)	E2045D	probably damaging	Het
Mypn	T	C	10: 62,983,761 (GRCm39)	T496A	possibly damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Or13c3	A	T	4: 52,855,636 (GRCm39)	N292K	probably damaging	Het
Or2d4	A	T	7: 106,543,519 (GRCm39)	S230T	probably benign	Het
Or4b13	T	C	2: 90,082,969 (GRCm39)	Y121C	probably damaging	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Or8g33	A	T	9: 39,337,901 (GRCm39)	S155R	possibly damaging	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Pik3cg	A	C	12: 32,244,708 (GRCm39)	C915W	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Rapgef1	C	T	2: 29,609,701 (GRCm39)	H675Y	possibly damaging	Het
Rpn2	T	A	2: 157,141,477 (GRCm39)	V263D	probably damaging	Het
Rps13	A	G	7: 115,933,160 (GRCm39)	L16P	probably damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Smarcc2	G	A	10: 128,318,812 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Spag9	G	A	11: 93,989,852 (GRCm39)		probably null	Het
Svil	A	G	18: 5,090,855 (GRCm39)	N915S	probably damaging	Het
Syt17	A	G	7: 118,033,180 (GRCm39)	L215P	probably damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tph2	T	C	10: 114,915,910 (GRCm39)	D421G	probably benign	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Vdac3	T	C	8: 23,070,525 (GRCm39)	N128D	probably benign	Het
Vegfb	G	A	19: 6,964,767 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,717 (GRCm39)	N315K	probably damaging	Het

Other mutations in Semp2l2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02001:Semp2l2b	APN	10	21,943,176 (GRCm39)	missense	probably benign	0.01
IGL02546:Semp2l2b	APN	10	21,942,826 (GRCm39)	missense	probably damaging	1.00
IGL02885:Semp2l2b	APN	10	21,943,057 (GRCm39)	missense	possibly damaging	0.94
R0543:Semp2l2b	UTSW	10	21,942,823 (GRCm39)	missense	possibly damaging	0.88
R1762:Semp2l2b	UTSW	10	21,943,411 (GRCm39)	missense	probably benign	0.02
R2249:Semp2l2b	UTSW	10	21,943,015 (GRCm39)	missense	possibly damaging	0.77
R2354:Semp2l2b	UTSW	10	21,943,155 (GRCm39)	missense	probably benign	0.19
R2870:Semp2l2b	UTSW	10	21,943,278 (GRCm39)	missense	probably benign
R2870:Semp2l2b	UTSW	10	21,943,278 (GRCm39)	missense	probably benign
R4117:Semp2l2b	UTSW	10	21,943,615 (GRCm39)	missense	probably benign
R4644:Semp2l2b	UTSW	10	21,942,660 (GRCm39)	missense	probably benign	0.02
R5002:Semp2l2b	UTSW	10	21,943,716 (GRCm39)	missense	probably damaging	0.99
R5667:Semp2l2b	UTSW	10	21,942,742 (GRCm39)	missense	possibly damaging	0.91
R5671:Semp2l2b	UTSW	10	21,942,742 (GRCm39)	missense	possibly damaging	0.91
R6694:Semp2l2b	UTSW	10	21,943,620 (GRCm39)	missense	probably damaging	0.99
R6810:Semp2l2b	UTSW	10	21,942,616 (GRCm39)	missense	probably damaging	1.00
R6923:Semp2l2b	UTSW	10	21,943,654 (GRCm39)	missense	probably damaging	1.00
R6942:Semp2l2b	UTSW	10	21,943,160 (GRCm39)	missense	probably benign
R7065:Semp2l2b	UTSW	10	21,943,197 (GRCm39)	missense	probably benign	0.00
R7204:Semp2l2b	UTSW	10	21,943,785 (GRCm39)	missense	probably damaging	1.00
R8778:Semp2l2b	UTSW	10	21,943,356 (GRCm39)	missense	probably damaging	0.99
R9403:Semp2l2b	UTSW	10	21,943,840 (GRCm39)	missense	possibly damaging	0.65
R9416:Semp2l2b	UTSW	10	21,943,752 (GRCm39)	missense	probably benign	0.04
R9508:Semp2l2b	UTSW	10	21,942,816 (GRCm39)	missense	probably damaging	0.99
R9615:Semp2l2b	UTSW	10	21,943,611 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- AATCTCCTCTGATGTCACACTG -3'
(R):5'- AGAACGGTCAGTGGCTCAATG -3'

Sequencing Primer
(F):5'- GTACTGCTTCCACTCCAAAGGG -3'
(R):5'- GGCTCTGCATGTCTTTAG -3'

Posted On

2015-03-25