Mutagenetix > Incidental Mutation

Incidental Mutation 'R5129:Semp2l1'

394885

Institutional Source

Beutler Lab

Gene Symbol

Semp2l1

Ensembl Gene

ENSMUSG00000091318

Gene Name

SUMO/sentrin specific peptidase 2-like 1

Synonyms

Gm5415

MMRRC Submission

042717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R5129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32582767-32586375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32584560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 450 (R450M)

Ref Sequence

ENSEMBL: ENSMUSP00000132789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226] [ENSMUST00000171322]

AlphaFold

E9PXF3

Predicted Effect

probably benign
Transcript: ENSMUST00000027226

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	156	4.93e-7	SMART
low complexity region	185	197	N/A	INTRINSIC
low complexity region	204	231	N/A	INTRINSIC
Pfam:Sam68-YY	267	321	1.3e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171322
AA Change: R450M

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

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: R450M

Domain	Start	End	E-Value	Type
low complexity region	137	150	N/A	INTRINSIC
Pfam:Peptidase_C48	298	477	7.4e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195761

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,260,786 (GRCm39)		noncoding transcript	Het
Abcf1	C	T	17: 36,271,687 (GRCm39)		probably benign	Het
Adamts14	T	A	10: 61,085,397 (GRCm39)	D209V	probably benign	Het
Aldh3b1	A	G	19: 3,965,336 (GRCm39)	F392L	probably benign	Het
Atp1a2	A	T	1: 172,103,522 (GRCm39)	D999E	probably benign	Het
Capn7	T	C	14: 31,066,468 (GRCm39)	V94A	probably damaging	Het
Cdh13	A	G	8: 119,821,954 (GRCm39)	D271G	probably damaging	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col6a4	T	C	9: 105,890,576 (GRCm39)	E1906G	probably damaging	Het
Daw1	T	C	1: 83,183,624 (GRCm39)	Y225H	probably damaging	Het
Dvl3	T	A	16: 20,336,090 (GRCm39)	M49K	possibly damaging	Het
Eef1b2	T	G	1: 63,218,739 (GRCm39)	S175A	probably damaging	Het
Epb41l1	A	T	2: 156,351,201 (GRCm39)	Y425F	possibly damaging	Het
Fam43b	A	T	4: 138,122,783 (GRCm39)	L179*	probably null	Het
Fbxw28	A	G	9: 109,155,671 (GRCm39)	L314P	probably damaging	Het
Fstl4	C	A	11: 53,077,266 (GRCm39)	D674E	probably damaging	Het
G3bp1	T	C	11: 55,379,942 (GRCm39)	V92A	possibly damaging	Het
Gm3604	A	T	13: 62,517,588 (GRCm39)	Y257N	probably benign	Het
Gm5900	A	G	7: 104,599,223 (GRCm39)		noncoding transcript	Het
Hectd4	G	A	5: 121,481,573 (GRCm39)	V3041M	possibly damaging	Het
Hivep2	A	G	10: 14,006,608 (GRCm39)	K1069E	probably damaging	Het
Hlf	T	C	11: 90,281,078 (GRCm39)	D38G	probably benign	Het
Hsd3b7	C	A	7: 127,400,306 (GRCm39)	C18*	probably null	Het
Kdm5a	T	C	6: 120,381,983 (GRCm39)	C676R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,751 (GRCm39)	Y1211C	probably damaging	Het
Krt78	C	A	15: 101,856,015 (GRCm39)	V599L	possibly damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Nbas	T	C	12: 13,440,961 (GRCm39)	L1097P	probably damaging	Het
Nf2	A	C	11: 4,766,145 (GRCm39)	D87E	probably benign	Het
Or10d4c	T	A	9: 39,558,790 (GRCm39)	I256N	probably benign	Het
Or14j2	T	C	17: 37,886,071 (GRCm39)	Y81C	probably damaging	Het
Ppil3	A	G	1: 58,479,992 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,379,154 (GRCm39)	E276G	unknown	Het
Spata16	A	G	3: 26,721,713 (GRCm39)	E78G	probably damaging	Het
Tlr3	A	T	8: 45,856,018 (GRCm39)	I54K	probably damaging	Het
Tmem72	A	G	6: 116,678,974 (GRCm39)	L34P	probably damaging	Het
Triobp	A	G	15: 78,845,296 (GRCm39)	R213G	probably benign	Het
Tyrp1	T	A	4: 80,764,844 (GRCm39)	V7D	probably damaging	Het
Uhrf2	A	G	19: 30,052,621 (GRCm39)	I372V	probably benign	Het
Uty	T	C	Y: 1,158,592 (GRCm39)	T484A	probably benign	Het
Vcan	T	C	13: 89,838,359 (GRCm39)	D2395G	probably damaging	Het
Vmn1r225	T	A	17: 20,723,378 (GRCm39)	I273N	probably damaging	Het
Zfp451	C	T	1: 33,842,014 (GRCm39)		probably benign	Het
Zfp457	T	C	13: 67,441,420 (GRCm39)	E385G	probably benign	Het
Zfp74	C	T	7: 29,631,880 (GRCm39)	M121I	probably benign	Het
Zfp866	A	T	8: 70,220,359 (GRCm39)		probably null	Het
Zfp874a	A	T	13: 67,591,100 (GRCm39)	C195S	probably damaging	Het

Other mutations in Semp2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Semp2l1	APN	1	32,585,748 (GRCm39)	missense	probably benign
IGL01148:Semp2l1	APN	1	32,584,735 (GRCm39)	missense	possibly damaging	0.88
IGL02323:Semp2l1	APN	1	32,584,785 (GRCm39)	nonsense	probably null
IGL03076:Semp2l1	APN	1	32,584,626 (GRCm39)	missense	probably damaging	1.00
IGL03288:Semp2l1	APN	1	32,584,841 (GRCm39)	missense	probably benign	0.09
PIT4576001:Semp2l1	UTSW	1	32,585,553 (GRCm39)	missense	probably damaging	1.00
R0110:Semp2l1	UTSW	1	32,584,956 (GRCm39)	missense	possibly damaging	0.87
R0510:Semp2l1	UTSW	1	32,584,956 (GRCm39)	missense	possibly damaging	0.87
R0891:Semp2l1	UTSW	1	32,585,442 (GRCm39)	missense	possibly damaging	0.54
R1836:Semp2l1	UTSW	1	32,584,758 (GRCm39)	missense	probably damaging	1.00
R1939:Semp2l1	UTSW	1	32,584,627 (GRCm39)	missense	probably damaging	0.99
R2156:Semp2l1	UTSW	1	32,585,128 (GRCm39)	missense	probably benign	0.08
R2226:Semp2l1	UTSW	1	32,584,934 (GRCm39)	missense	probably damaging	1.00
R2422:Semp2l1	UTSW	1	32,584,942 (GRCm39)	missense	possibly damaging	0.73
R4761:Semp2l1	UTSW	1	32,585,588 (GRCm39)	missense	possibly damaging	0.51
R4901:Semp2l1	UTSW	1	32,585,701 (GRCm39)	missense	probably benign	0.00
R5129:Semp2l1	UTSW	1	32,584,561 (GRCm39)	missense	probably damaging	1.00
R5184:Semp2l1	UTSW	1	32,584,729 (GRCm39)	missense	probably damaging	0.99
R5259:Semp2l1	UTSW	1	32,584,598 (GRCm39)	nonsense	probably null
R6271:Semp2l1	UTSW	1	32,584,572 (GRCm39)	missense	probably damaging	1.00
R6589:Semp2l1	UTSW	1	32,585,792 (GRCm39)	missense	probably benign	0.44
R6746:Semp2l1	UTSW	1	32,585,844 (GRCm39)	missense	probably benign
R7720:Semp2l1	UTSW	1	32,585,178 (GRCm39)	missense	probably benign	0.00
R7855:Semp2l1	UTSW	1	32,585,114 (GRCm39)	missense	probably damaging	0.96
R8006:Semp2l1	UTSW	1	32,586,005 (GRCm39)	start gained	probably benign
R8177:Semp2l1	UTSW	1	32,585,457 (GRCm39)	missense	probably benign
R8946:Semp2l1	UTSW	1	32,585,685 (GRCm39)	missense	probably benign	0.02
R9172:Semp2l1	UTSW	1	32,585,165 (GRCm39)	missense	probably benign
R9455:Semp2l1	UTSW	1	32,585,907 (GRCm39)	start codon destroyed	probably null
X0024:Semp2l1	UTSW	1	32,584,792 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

Posted On

2016-06-21