Mutagenetix > Incidental Mutation

Incidental Mutation 'R6694:Semp2l2b'

528505

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2b

Ensembl Gene

ENSMUSG00000069712

Gene Name

SUMO/sentrin specific peptidase 2-like 2B

Synonyms

4930444G20Rik

MMRRC Submission

044812-MU

Accession Numbers

Essential gene?

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

Stock #

R6694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21942208-21943978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21943620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

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

AlphaFold

D3Z741

Predicted Effect

probably damaging
Transcript: ENSMUST00000092672
AA Change: E120G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: E120G

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	G	A	6: 48,907,480 (GRCm39)	S160N	probably benign	Het
Arap3	A	C	18: 38,124,590 (GRCm39)		probably null	Het
Arhgap10	A	G	8: 78,137,692 (GRCm39)	F300L	probably benign	Het
Ccdc116	T	C	16: 16,960,655 (GRCm39)	E54G	probably benign	Het
Cd53	T	A	3: 106,674,702 (GRCm39)	I122F	probably benign	Het
Ctnnd1	T	C	2: 84,454,849 (GRCm39)		probably benign	Het
Ddx60	A	G	8: 62,490,104 (GRCm39)	D1691G	probably damaging	Het
Dnah11	T	C	12: 118,150,617 (GRCm39)		probably null	Het
Exoc1	T	A	5: 76,697,399 (GRCm39)	M392K	probably damaging	Het
Exoc3l	G	C	8: 106,017,122 (GRCm39)	R622G	probably benign	Het
Grid2	C	G	6: 63,908,031 (GRCm39)	R224G	possibly damaging	Het
Kif20a	A	G	18: 34,758,579 (GRCm39)	E16G	probably damaging	Het
Kit	T	C	5: 75,801,417 (GRCm39)	V568A	possibly damaging	Het
Lhx4	T	C	1: 155,580,456 (GRCm39)	S257G	probably benign	Het
Med18	C	T	4: 132,187,293 (GRCm39)	V114I	probably benign	Het
Mrps30	C	T	13: 118,523,497 (GRCm39)	V92M	possibly damaging	Het
Mtrr	C	T	13: 68,712,452 (GRCm39)	V645I	probably benign	Het
Nuak2	T	G	1: 132,260,048 (GRCm39)	S609A	probably damaging	Het
Or2y1g	A	T	11: 49,171,379 (GRCm39)	I135F	probably benign	Het
Plk4	T	C	3: 40,756,263 (GRCm39)	V58A	probably damaging	Het
Polq	T	A	16: 36,835,535 (GRCm39)	F145L	probably null	Het
Rab11fip2	T	C	19: 59,925,707 (GRCm39)	K170R	probably damaging	Het
Rapgef3	A	G	15: 97,657,865 (GRCm39)	V246A	probably benign	Het
Rc3h2	A	G	2: 37,290,555 (GRCm39)	S316P	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	GCGGCGGC	GCGGCGGCGACGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Sae1	G	T	7: 16,102,461 (GRCm39)	A171E	probably damaging	Het
Setd5	T	A	6: 113,120,669 (GRCm39)	N959K	probably benign	Het
Siae	T	A	9: 37,528,119 (GRCm39)	Y31N	probably damaging	Het
Sit1	C	T	4: 43,483,311 (GRCm39)	G51D	probably damaging	Het
Slc5a11	A	G	7: 122,867,012 (GRCm39)	I436V	possibly damaging	Het
Tcfl5	A	G	2: 180,264,447 (GRCm39)	S470P	probably damaging	Het
Timd2	A	T	11: 46,561,779 (GRCm39)	C288*	probably null	Het
Timeless	T	G	10: 128,075,868 (GRCm39)		probably null	Het
Ubxn8	G	T	8: 34,111,572 (GRCm39)	Q274K	possibly damaging	Het
Usp29	A	G	7: 6,965,276 (GRCm39)	E373G	probably benign	Het
Zap70	A	G	1: 36,821,598 (GRCm39)	Y597C	probably damaging	Het
Zfp523	T	G	17: 28,419,446 (GRCm39)	Y195D	probably damaging	Het
Zfp74	G	A	7: 29,634,559 (GRCm39)	A383V	probably damaging	Het
Zfp93	A	T	7: 23,975,338 (GRCm39)	Q441L	probably damaging	Het
Zfp976	A	T	7: 42,263,610 (GRCm39)	Y76N	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
R3777:Semp2l2b	UTSW	10	21,942,861 (GRCm39)	missense	probably damaging	1.00
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
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'- TCTCTCCTCTGGTGAAAGACATTC -3'
(R):5'- AGAGCTCCCGAGAGAACATC -3'

Sequencing Primer
(F):5'- CAACAGTAGATGGTTCTCGATCGC -3'
(R):5'- CATCCTAGCAAGGGTCAGGTAC -3'

Posted On

2018-07-24