Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02546:Semp2l2b'

297810

Institutional Source

Australian Phenomics Network (link to record)

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: 0.135) question?

Stock #

IGL02546

Quality Score

Status

Chromosome

Chromosomal Location

21942208-21943978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21942826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 385 (W385R)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

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

AlphaFold

D3Z741

Predicted Effect

probably damaging
Transcript: ENSMUST00000092672
AA Change: W385R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: W385R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	T	12: 52,927,521 (GRCm39)	V144L	probably damaging	Het
Carmil1	A	T	13: 24,299,482 (GRCm39)	N347K	probably damaging	Het
Cyp4a32	A	G	4: 115,468,520 (GRCm39)	Y334C	probably damaging	Het
Dmxl2	C	A	9: 54,273,698 (GRCm39)		probably benign	Het
Eps8	C	T	6: 137,456,064 (GRCm39)	A806T	probably benign	Het
Evl	A	G	12: 108,614,678 (GRCm39)	N24S	possibly damaging	Het
Fbxo15	T	C	18: 84,980,847 (GRCm39)		probably null	Het
Gm14179	A	T	11: 99,634,019 (GRCm39)			Het
Hepacam2	A	G	6: 3,483,568 (GRCm39)	V147A	possibly damaging	Het
Jmjd1c	C	A	10: 67,061,115 (GRCm39)	P1156Q	possibly damaging	Het
Mab21l3	A	T	3: 101,730,624 (GRCm39)	V205E	probably damaging	Het
Mad2l1	T	C	6: 66,512,951 (GRCm39)	I28T	probably damaging	Het
Minar2	T	A	18: 59,205,347 (GRCm39)	M45K	probably damaging	Het
Mroh9	T	A	1: 162,908,145 (GRCm39)	I2F	probably benign	Het
Msr1	A	T	8: 40,068,788 (GRCm39)	I302K	probably benign	Het
Msrb3	C	T	10: 120,685,906 (GRCm39)	V80I	possibly damaging	Het
Ncf4	A	G	15: 78,145,219 (GRCm39)	D269G	probably damaging	Het
Nsl1	T	A	1: 190,803,398 (GRCm39)	H156Q	probably benign	Het
Nutm1	T	C	2: 112,078,669 (GRCm39)	D1082G	probably benign	Het
Or6c216	T	A	10: 129,678,416 (GRCm39)	D165V	probably damaging	Het
Or7g20	T	A	9: 18,946,650 (GRCm39)	V77D	possibly damaging	Het
Orc4	T	C	2: 48,807,296 (GRCm39)	I212V	probably null	Het
Pde6c	A	G	19: 38,128,488 (GRCm39)	I184V	probably benign	Het
Pfkfb3	A	T	2: 11,493,589 (GRCm39)	F129Y	probably damaging	Het
Ppp3cb	T	C	14: 20,551,622 (GRCm39)	D493G	probably benign	Het
Psg29	A	G	7: 16,942,707 (GRCm39)	Y236C	probably damaging	Het
Pzp	C	T	6: 128,471,662 (GRCm39)		probably benign	Het
Sgf29	T	A	7: 126,271,025 (GRCm39)	V180E	probably damaging	Het
Sh3bp4	A	G	1: 89,071,266 (GRCm39)		probably benign	Het
Slc39a2	A	T	14: 52,132,620 (GRCm39)	T188S	probably benign	Het
Slc6a13	G	T	6: 121,310,323 (GRCm39)	M327I	probably benign	Het
Slitrk6	T	A	14: 110,987,226 (GRCm39)	H827L	probably benign	Het
Thumpd2	T	G	17: 81,361,884 (GRCm39)	K114T	probably benign	Het
Tnfrsf19	A	T	14: 61,210,987 (GRCm39)	C234S	possibly damaging	Het
Tns2	A	G	15: 102,019,375 (GRCm39)	D446G	probably damaging	Het
Tpm4	A	G	8: 72,898,547 (GRCm39)	E137G	probably damaging	Het
Ttn	G	A	2: 76,625,901 (GRCm39)	R13307C	probably damaging	Het
Ubqln3	A	G	7: 103,791,725 (GRCm39)	S122P	probably benign	Het
Ubr5	T	C	15: 38,008,991 (GRCm39)	D1080G	probably benign	Het
Ulk4	A	T	9: 120,981,373 (GRCm39)	L886*	probably null	Het
Unc80	T	C	1: 66,594,112 (GRCm39)	S1164P	possibly damaging	Het
Uspl1	T	C	5: 149,141,114 (GRCm39)	V371A	possibly damaging	Het
Virma	T	C	4: 11,494,804 (GRCm39)	V35A	probably damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp787	A	T	7: 6,135,297 (GRCm39)	I318N	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
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
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

Posted On

2015-04-16