Mutagenetix > Incidental Mutation

Incidental Mutation 'R0543:Semp2l2b'

50065

Institutional Source

Beutler Lab

Gene Symbol

Semp2l2b

Ensembl Gene

ENSMUSG00000069712

Gene Name

SUMO/sentrin specific peptidase 2-like 2B

Synonyms

4930444G20Rik

MMRRC Submission

038735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R0543 (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 21942823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 386 (S386G)

Ref Sequence

ENSEMBL: ENSMUSP00000097613 (fasta)

Gene Model

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

AlphaFold

D3Z741

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092672
AA Change: S386G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097613
Gene: ENSMUSG00000069712
AA Change: S386G

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	A	6: 116,431,278 (GRCm39)		probably null	Het
Apol9b	A	G	15: 77,619,840 (GRCm39)	N212S	probably damaging	Het
Ash1l	T	A	3: 88,971,085 (GRCm39)		probably null	Het
Bltp1	G	A	3: 37,050,607 (GRCm39)	S2981N	probably benign	Het
Ccdc180	A	T	4: 45,900,041 (GRCm39)	K200*	probably null	Het
Ccser2	A	T	14: 36,662,149 (GRCm39)	M345K	probably benign	Het
Cdcp2	A	T	4: 106,954,873 (GRCm39)		probably null	Het
Clca3a1	T	C	3: 144,454,155 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,246,051 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,075,326 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,244,325 (GRCm39)	F1035S	probably damaging	Het
Dsg1a	A	T	18: 20,473,920 (GRCm39)	S998C	probably damaging	Het
Ecrg4	C	A	1: 43,781,449 (GRCm39)	N110K	possibly damaging	Het
Enox1	T	C	14: 77,744,399 (GRCm39)		probably benign	Het
Fgfr3	A	G	5: 33,887,054 (GRCm39)	M1V	probably null	Het
Fuca2	T	A	10: 13,378,870 (GRCm39)	Y5N	probably damaging	Het
Git2	G	T	5: 114,883,592 (GRCm39)	H42Q	probably damaging	Het
Gm7964	G	A	7: 83,405,602 (GRCm39)		noncoding transcript	Het
Hars2	G	A	18: 36,922,477 (GRCm39)	E337K	probably damaging	Het
Hells	A	G	19: 38,956,194 (GRCm39)	R797G	probably benign	Het
Hnf1a	G	A	5: 115,088,803 (GRCm39)	S571L	probably benign	Het
Hoxa5	T	C	6: 52,181,320 (GRCm39)	Y4C	probably damaging	Het
Inpp4a	G	A	1: 37,408,573 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,934,060 (GRCm39)	I816V	probably damaging	Het
Itpr1	T	C	6: 108,492,709 (GRCm39)		probably benign	Het
Itprid2	T	A	2: 79,474,850 (GRCm39)	S270T	possibly damaging	Het
Kcnt2	C	A	1: 140,537,352 (GRCm39)	P1037T	probably damaging	Het
Lyg2	T	A	1: 37,950,188 (GRCm39)	M47L	possibly damaging	Het
Macf1	G	T	4: 123,270,171 (GRCm39)	A4648D	probably damaging	Het
Mcf2l	T	C	8: 13,046,728 (GRCm39)		probably null	Het
Mcm9	C	T	10: 53,417,694 (GRCm39)	R3H	probably damaging	Het
Met	T	A	6: 17,491,969 (GRCm39)	Y244N	probably damaging	Het
Mettl14	A	T	3: 123,168,411 (GRCm39)	C210S	possibly damaging	Het
Mrgpra4	T	C	7: 47,631,058 (GRCm39)	Y181C	probably benign	Het
Mtch2	T	C	2: 90,680,026 (GRCm39)	V86A	possibly damaging	Het
Mttp	A	T	3: 137,817,457 (GRCm39)	I446N	possibly damaging	Het
Muc4	T	A	16: 32,577,120 (GRCm39)	S2207T	unknown	Het
Muc5b	A	G	7: 141,405,522 (GRCm39)	T944A	unknown	Het
Myo15a	A	T	11: 60,369,877 (GRCm39)	H879L	probably benign	Het
Nherf4	A	C	9: 44,160,231 (GRCm39)	H324Q	probably damaging	Het
Nkiras2	G	A	11: 100,515,018 (GRCm39)		probably benign	Het
Nostrin	T	G	2: 69,019,475 (GRCm39)	*507E	probably null	Het
Nup205	T	C	6: 35,175,904 (GRCm39)	V589A	probably benign	Het
Or12j3	A	G	7: 139,953,307 (GRCm39)	I72T	probably benign	Het
Or5b21	G	T	19: 12,839,252 (GRCm39)	V38F	probably benign	Het
Or5w17	C	A	2: 87,583,994 (GRCm39)	L114F	probably damaging	Het
Oxct2b	T	A	4: 123,010,782 (GRCm39)	M234K	possibly damaging	Het
Pcdha1	A	T	18: 37,318,121 (GRCm39)	I945F	probably damaging	Het
Pik3ca	G	A	3: 32,504,410 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,386,887 (GRCm39)		probably null	Het
Plscr1	A	T	9: 92,140,099 (GRCm39)		probably null	Het
Prkn	G	A	17: 11,286,066 (GRCm39)	D20N	probably damaging	Het
Psd	T	C	19: 46,307,956 (GRCm39)	E684G	possibly damaging	Het
Rab11fip3	T	C	17: 26,213,199 (GRCm39)	E870G	probably damaging	Het
Rpl22l1	C	A	3: 28,861,423 (GRCm39)	Y103*	probably null	Het
Slc38a4	A	T	15: 96,914,720 (GRCm39)	N44K	possibly damaging	Het
Slco6c1	T	A	1: 97,055,623 (GRCm39)	I93F	probably damaging	Het
Strip1	G	A	3: 107,534,091 (GRCm39)	T181M	possibly damaging	Het
Stxbp5l	G	A	16: 37,028,458 (GRCm39)	A535V	probably damaging	Het
Tg	A	T	15: 66,601,446 (GRCm39)	Q152L	probably benign	Het
Thada	T	C	17: 84,730,591 (GRCm39)	T1036A	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tns1	T	A	1: 73,991,856 (GRCm39)	T941S	probably benign	Het
Tppp3	T	C	8: 106,194,840 (GRCm39)	D97G	probably benign	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpm7	T	C	2: 126,690,449 (GRCm39)	I210V	probably damaging	Het
Ubr1	A	G	2: 120,711,574 (GRCm39)	L1440P	probably damaging	Het
Utp18	A	T	11: 93,766,661 (GRCm39)	Y317N	probably damaging	Het
Zdhhc5	T	A	2: 84,522,824 (GRCm39)		probably benign	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GTCACTCCCATTCAGTTGCAGAGG -3'
(R):5'- ACGGTCAGTGGCTCAATGATGAGG -3'

Sequencing Primer
(F):5'- TCAGTTGCAGAGGAATCTCC -3'
(R):5'- CTACATGAACCTTCTGGTTGAGAG -3'

Posted On

2013-06-12