Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Semp2l1'

532811

Institutional Source

Beutler Lab

Gene Symbol

Semp2l1

Ensembl Gene

ENSMUSG00000091318

Gene Name

SUMO/sentrin specific peptidase 2-like 1

Synonyms

Gm5415

MMRRC Submission

044863-MU

Accession Numbers

Essential gene?

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

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32582767-32586375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32585844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 22 (I22N)

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
AA Change: I22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: I22N

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,565,195 (GRCm39)	L79*	probably null	Het
Acot3	A	G	12: 84,100,248 (GRCm39)	N8S	probably benign	Het
Adora2a	T	C	10: 75,169,442 (GRCm39)	V302A	probably benign	Het
Anpep	A	C	7: 79,488,933 (GRCm39)		probably null	Het
Arrb1	A	G	7: 99,250,357 (GRCm39)	K392E	probably benign	Het
Atp8a1	A	T	5: 67,908,392 (GRCm39)	N444K	probably benign	Het
Bltp3b	T	A	10: 89,623,020 (GRCm39)	N298K	probably benign	Het
Brinp2	C	T	1: 158,094,160 (GRCm39)	G181R	probably benign	Het
Cacna1g	A	T	11: 94,300,253 (GRCm39)	C2184*	probably null	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Ccdc30	T	C	4: 119,213,915 (GRCm39)	T205A	probably benign	Het
Celsr1	A	G	15: 85,915,696 (GRCm39)	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,370,404 (GRCm39)	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,706,767 (GRCm39)	N2115K	unknown	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Erich6	T	C	3: 58,523,987 (GRCm39)	D629G	possibly damaging	Het
Fahd1	G	T	17: 25,068,915 (GRCm39)	A54E	probably damaging	Het
Flrt3	C	T	2: 140,501,945 (GRCm39)	R561Q	probably damaging	Het
Grm6	A	T	11: 50,747,790 (GRCm39)	D334V	probably damaging	Het
Helb	A	T	10: 119,941,373 (GRCm39)	D438E	probably damaging	Het
Hmgcs1	T	C	13: 120,156,585 (GRCm39)		probably null	Het
Hnf4g	C	A	3: 3,722,170 (GRCm39)	Y441*	probably null	Het
Hspa13	A	T	16: 75,561,925 (GRCm39)	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,413,057 (GRCm39)	I193T	possibly damaging	Het
Itga7	T	C	10: 128,785,341 (GRCm39)	V848A	probably benign	Het
Kash5	C	T	7: 44,849,735 (GRCm39)	V63I	probably benign	Het
Lpin1	A	G	12: 16,615,529 (GRCm39)	M341T	probably benign	Het
Lypd5	G	T	7: 24,052,531 (GRCm39)		probably null	Het
Mrgprb1	A	C	7: 48,097,645 (GRCm39)	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,441,080 (GRCm39)		probably null	Het
Oasl1	T	A	5: 115,075,242 (GRCm39)	V434E	probably damaging	Het
Or2ak6	G	A	11: 58,593,369 (GRCm39)	V281I	probably benign	Het
Or7g22	A	G	9: 19,048,774 (GRCm39)	M162V	probably benign	Het
Or8k16	T	C	2: 85,519,952 (GRCm39)	Y60H	probably damaging	Het
Otor	T	A	2: 142,921,955 (GRCm39)		probably null	Het
Pik3cg	G	A	12: 32,244,757 (GRCm39)	T899M	probably damaging	Het
Plaat5	A	G	19: 7,590,695 (GRCm39)	D74G	probably benign	Het
Pld2	C	A	11: 70,431,933 (GRCm39)	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786 (GRCm39)	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,742,319 (GRCm39)	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,075,351 (GRCm39)	C99*	probably null	Het
Prss44	A	T	9: 110,644,361 (GRCm39)	*145C	probably null	Het
Ptpro	T	A	6: 137,371,821 (GRCm39)	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,318,056 (GRCm39)	V866G	probably damaging	Het
Rassf6	C	A	5: 90,757,633 (GRCm39)	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,812,031 (GRCm39)	T147P	probably benign	Het
Rpl7l1	T	C	17: 47,090,322 (GRCm39)	K104R	probably benign	Het
Ryr1	A	T	7: 28,816,829 (GRCm39)	I69N	possibly damaging	Het
Scd1	G	T	19: 44,394,927 (GRCm39)	F99L	probably benign	Het
Spint2	A	T	7: 28,958,848 (GRCm39)	S66T	probably benign	Het
Tarm1	T	A	7: 3,550,978 (GRCm39)	I2F	probably benign	Het
Tenm4	T	C	7: 96,542,067 (GRCm39)	V1860A	probably damaging	Het
Usp38	A	G	8: 81,740,920 (GRCm39)	I49T	possibly damaging	Het
Vars2	A	G	17: 35,971,294 (GRCm39)		probably null	Het
Vmn2r27	T	G	6: 124,177,552 (GRCm39)	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,053,982 (GRCm39)		probably null	Het
Zfp937	A	T	2: 150,081,343 (GRCm39)	K458*	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
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

PCR Primer
(F):5'- TTACAACCTGCTCTGGAGGACC -3'
(R):5'- TGAGCCAGGCATAAGGTTGC -3'

Sequencing Primer
(F):5'- ACCTTCGGTCAACTCTAGGG -3'
(R):5'- CTTTTGCTTGGAAAGTGAAAGAGCAC -3'

Posted On

2018-08-29