Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Semp2l1'

616606

Institutional Source

Beutler Lab

Gene Symbol

Semp2l1

Ensembl Gene

ENSMUSG00000091318

Gene Name

SUMO/sentrin specific peptidase 2-like 1

Synonyms

Gm5415

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32582767-32586375 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 32586005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000171322

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 41,248,944 (GRCm39)	H351Q	probably benign	Het
Ahnak	T	C	19: 8,989,447 (GRCm39)	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,229,444 (GRCm39)	S126P	probably damaging	Het
Akip1	A	G	7: 109,303,199 (GRCm39)	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,781,772 (GRCm39)	R287G		Het
Ankrd13a	A	C	5: 114,942,484 (GRCm39)	*589S	probably null	Het
Ankrd34c	T	C	9: 89,611,889 (GRCm39)	I151V	probably damaging	Het
Ano5	T	A	7: 51,243,518 (GRCm39)	D880E	probably benign	Het
Arl3	A	C	19: 46,546,813 (GRCm39)	L4R	probably damaging	Het
Ate1	T	A	7: 130,069,118 (GRCm39)	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr3	C	T	9: 108,706,306 (GRCm39)	P930S	probably damaging	Het
Cfhr4	A	G	1: 139,664,590 (GRCm39)	Y490H	probably damaging	Het
Cox18	C	T	5: 90,371,672 (GRCm39)	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,417,790 (GRCm39)	K176R	probably benign	Het
Fam135b	T	C	15: 71,334,183 (GRCm39)	T1004A	probably benign	Het
Fam227a	A	G	15: 79,518,299 (GRCm39)	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,637,669 (GRCm39)	I248V	probably benign	Het
Gm6871	T	C	7: 41,195,106 (GRCm39)	T544A	probably benign	Het
Grm6	A	T	11: 50,755,484 (GRCm39)	*872L	probably null	Het
Herc1	T	A	9: 66,352,842 (GRCm39)	Y2109*	probably null	Het
Hsd11b2	T	A	8: 106,245,735 (GRCm39)	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,556,322 (GRCm39)	V721A	possibly damaging	Het
Jade1	A	T	3: 41,568,124 (GRCm39)	I731L	probably benign	Het
Khnyn	G	A	14: 56,125,047 (GRCm39)	V434I	probably benign	Het
Lrp1	A	G	10: 127,425,488 (GRCm39)	L714P	probably damaging	Het
Lrrc41	G	A	4: 115,952,085 (GRCm39)	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,004,673 (GRCm39)	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,444,393 (GRCm39)	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,985 (GRCm39)	R387C	probably damaging	Het
Mro	A	T	18: 74,010,577 (GRCm39)	D219V	possibly damaging	Het
Myot	T	A	18: 44,487,904 (GRCm39)	L407Q	probably damaging	Het
Nppa	T	A	4: 148,085,638 (GRCm39)	W82R	probably damaging	Het
Or10g6	T	G	9: 39,933,770 (GRCm39)	L27R	probably damaging	Het
Or52a20	T	A	7: 103,366,532 (GRCm39)	C244S	probably damaging	Het
Or5ak24	T	C	2: 85,260,318 (GRCm39)	N285S	probably damaging	Het
Phip	T	A	9: 82,772,179 (GRCm39)	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,661,831 (GRCm39)	I695T	probably benign	Het
Ppp1r10	A	T	17: 36,239,158 (GRCm39)	M347L	probably benign	Het
Reln	A	T	5: 22,104,082 (GRCm39)	C3296*	probably null	Het
Slf2	T	A	19: 44,930,756 (GRCm39)	L611Q	probably damaging	Het
Spire1	G	A	18: 67,634,251 (GRCm39)	Q396*	probably null	Het
Taf2	A	G	15: 54,912,097 (GRCm39)	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,046,898 (GRCm39)	E451K	probably damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem267	T	A	13: 120,070,774 (GRCm39)	V143E	probably damaging	Het
Tyw1	C	T	5: 130,296,913 (GRCm39)	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993 (GRCm39)	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Wnk4	A	G	11: 101,159,182 (GRCm39)	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174 (GRCm39)	C331S	probably benign	Het
Zik1	A	T	7: 10,224,100 (GRCm39)	C332*	probably null	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
R5129:Semp2l1	UTSW	1	32,584,560 (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
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

PCR Primer
(F):5'- AAATACCATCGTTGTTCCATCCTG -3'
(R):5'- GGCCAAGCTCTGACTATTCACC -3'

Sequencing Primer
(F):5'- GGATCTTGTCCCAAAGCTTCAGAATC -3'
(R):5'- CAAGCTCTGACTATTCACCAATTGG -3'

Posted On

2020-01-23