Mutagenetix > Incidental Mutation

Incidental Mutation 'R2249:Semp2l2b'

240789

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2b

Ensembl Gene

ENSMUSG00000069712

Gene Name

SUMO/sentrin specific peptidase 2-like 2B

Synonyms

4930444G20Rik

MMRRC Submission

040249-MU

Accession Numbers

Essential gene?

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

Stock #

R2249 (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 21943015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 322 (I322V)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

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

AlphaFold

D3Z741

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092672
AA Change: I322V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: I322V

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: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,100,975 (GRCm39)	R379Q	probably null	Het
Adam23	C	T	1: 63,574,335 (GRCm39)	Q276*	probably null	Het
Apob	A	T	12: 8,057,499 (GRCm39)	S1961C	probably damaging	Het
Atxn7l1	C	T	12: 33,408,839 (GRCm39)	P334S	probably damaging	Het
Ccnb1	T	C	13: 100,917,827 (GRCm39)	M258V	possibly damaging	Het
Cd34	A	C	1: 194,630,260 (GRCm39)	T65P	possibly damaging	Het
Cog6	A	G	3: 52,907,900 (GRCm39)		probably null	Het
Cp	T	C	3: 20,041,734 (GRCm39)	M953T	probably damaging	Het
Cwc27	C	T	13: 104,768,130 (GRCm39)	R455Q	unknown	Het
Dhx57	A	T	17: 80,588,663 (GRCm39)	D63E	probably damaging	Het
Elapor1	A	T	3: 108,378,726 (GRCm39)	Y409*	probably null	Het
Flt4	T	A	11: 49,536,786 (GRCm39)	M1252K	possibly damaging	Het
Gfral	C	T	9: 76,100,631 (GRCm39)	C269Y	probably damaging	Het
Itih4	C	T	14: 30,621,351 (GRCm39)	Q788*	probably null	Het
Kif18b	A	G	11: 102,803,214 (GRCm39)	S499P	probably benign	Het
Map1a	G	C	2: 121,130,768 (GRCm39)	R528P	probably damaging	Het
Map3k5	T	C	10: 20,003,443 (GRCm39)	F1152L	probably damaging	Het
Marveld2	T	C	13: 100,748,599 (GRCm39)	D160G	probably benign	Het
Mtcl2	A	T	2: 156,882,013 (GRCm39)	C680S	probably benign	Het
Mug1	A	T	6: 121,847,469 (GRCm39)	M616L	probably benign	Het
Ndst4	A	T	3: 125,231,823 (GRCm39)	I131F	probably benign	Het
Neto1	G	T	18: 86,479,399 (GRCm39)	A196S	probably benign	Het
Notum	A	G	11: 120,545,237 (GRCm39)	F441L	probably benign	Het
Nsmce4a	A	G	7: 130,140,769 (GRCm39)	I239T	probably benign	Het
Or51g1	A	T	7: 102,633,647 (GRCm39)	N241K	possibly damaging	Het
Or52z14	T	A	7: 103,252,943 (GRCm39)	D27E	probably benign	Het
Or5d35	A	T	2: 87,855,707 (GRCm39)	I214F	probably damaging	Het
Or6s1	T	A	14: 51,307,870 (GRCm39)	K327*	probably null	Het
Or6x1	A	T	9: 40,098,980 (GRCm39)	T190S	possibly damaging	Het
Or8k40	A	G	2: 86,584,398 (GRCm39)	M228T	probably damaging	Het
Pde4dip	A	T	3: 97,700,841 (GRCm39)	V221D	probably damaging	Het
Pkp1	T	C	1: 135,808,545 (GRCm39)	Y474C	probably damaging	Het
Ptk6	A	C	2: 180,838,173 (GRCm39)	H363Q	probably benign	Het
Rb1cc1	T	C	1: 6,342,948 (GRCm39)	W187R	probably damaging	Het
Rbfox3	A	T	11: 118,394,564 (GRCm39)	F132L	probably damaging	Het
Rcl1	A	T	19: 29,099,268 (GRCm39)	I188F	possibly damaging	Het
Scfd1	T	A	12: 51,462,299 (GRCm39)	S385T	possibly damaging	Het
Sema6d	A	G	2: 124,501,508 (GRCm39)	E483G	possibly damaging	Het
Sipa1l1	T	C	12: 82,388,890 (GRCm39)	V372A	probably benign	Het
Slc17a6	G	A	7: 51,317,654 (GRCm39)	G429D	probably damaging	Het
Slc22a5	A	G	11: 53,774,532 (GRCm39)	V151A	possibly damaging	Het
Spidr	T	C	16: 15,936,787 (GRCm39)	D106G	probably damaging	Het
Tekt3	A	T	11: 62,974,778 (GRCm39)	T366S	probably benign	Het
Trpm3	T	C	19: 22,710,398 (GRCm39)	M281T	probably benign	Het
Ttn	A	G	2: 76,782,485 (GRCm39)	V917A	probably damaging	Het
Tubgcp4	A	T	2: 121,014,110 (GRCm39)	D221V	possibly damaging	Het
Ubr4	C	T	4: 139,176,232 (GRCm39)	R3153W	probably damaging	Het
Vmn1r89	A	C	7: 12,954,187 (GRCm39)	T308P	possibly damaging	Het
Vmn2r59	A	G	7: 41,708,326 (GRCm39)	I27T	probably benign	Het
Vps13c	T	G	9: 67,895,335 (GRCm39)		probably null	Het
Zfp142	A	G	1: 74,606,191 (GRCm39)	V1793A	probably damaging	Het
Zfp472	T	A	17: 33,197,109 (GRCm39)	C395S	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATCGATTACCACCAGGCTCC -3'
(R):5'- CCTATTACAGACCGAGGAAAAGGC -3'

Sequencing Primer
(F):5'- ACCCTCTGGTGAATAGGCAC -3'
(R):5'- AAGGCAGAGAAATGGATCAAATC -3'

Posted On

2014-10-15