Mutagenetix > Incidental Mutation

Incidental Mutation 'R5259:Semp2l1'

401274

Institutional Source

Beutler Lab

Gene Symbol

Semp2l1

Ensembl Gene

ENSMUSG00000091318

Gene Name

SUMO/sentrin specific peptidase 2-like 1

Synonyms

Gm5415

MMRRC Submission

042856-MU

Accession Numbers

Essential gene?

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

Stock #

R5259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32582767-32586375 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 32584598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 437 (C437*)

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 null
Transcript: ENSMUST00000171322
AA Change: C437*

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: C437*

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: 97.0%
20x: 94.7%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,871,325 (GRCm39)	T50P	probably damaging	Het
Adam5	T	A	8: 25,300,850 (GRCm39)	L226F	possibly damaging	Het
Adi1	T	C	12: 28,725,544 (GRCm39)		probably benign	Het
Apc	T	C	18: 34,447,343 (GRCm39)	V1379A	probably benign	Het
Atp13a4	G	A	16: 29,275,428 (GRCm39)	T352M	probably damaging	Het
Baat	T	A	4: 49,490,070 (GRCm39)	N338I	probably benign	Het
Bdnf	A	G	2: 109,554,327 (GRCm39)	T234A	probably benign	Het
Catsperd	A	C	17: 56,967,235 (GRCm39)	T539P	possibly damaging	Het
Cd109	A	T	9: 78,617,434 (GRCm39)	T1311S	probably benign	Het
Ceacam18	T	C	7: 43,286,536 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,415,373 (GRCm39)	E211G	probably benign	Het
Cfhr4	C	T	1: 139,668,233 (GRCm39)	C300Y	probably damaging	Het
Chsy3	T	A	18: 59,543,318 (GRCm39)	S819T	probably damaging	Het
Col4a4	G	T	1: 82,431,614 (GRCm39)	R1557S	unknown	Het
Ddx18	A	G	1: 121,495,518 (GRCm39)		probably null	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Fam13c	C	G	10: 70,276,893 (GRCm39)	A17G	probably benign	Het
Fermt1	T	C	2: 132,748,685 (GRCm39)	Y646C	probably damaging	Het
Fra10ac1	A	G	19: 38,188,110 (GRCm39)	S229P	probably benign	Het
Gbp8	A	T	5: 105,198,845 (GRCm39)	H23Q	probably benign	Het
Gdf2	T	C	14: 33,666,788 (GRCm39)	V170A	probably benign	Het
Gm15723	T	C	10: 114,652,722 (GRCm39)		noncoding transcript	Het
Gm815	G	A	19: 26,863,806 (GRCm39)	V16I	unknown	Het
Ighv1-75	T	A	12: 115,797,797 (GRCm39)	K42*	probably null	Het
Isx	A	G	8: 75,619,473 (GRCm39)	T222A	probably benign	Het
Itgax	G	A	7: 127,747,450 (GRCm39)	D1018N	probably damaging	Het
Kcnc4	A	G	3: 107,355,401 (GRCm39)	F349S	probably damaging	Het
Lama3	A	C	18: 12,598,565 (GRCm39)	S991R	probably damaging	Het
Larp4b	C	T	13: 9,208,220 (GRCm39)	A398V	probably damaging	Het
Ltbp1	A	G	17: 75,670,357 (GRCm39)	N1466S	probably benign	Het
Metrn	A	T	17: 26,015,514 (GRCm39)	L67Q	probably damaging	Het
Morc1	G	A	16: 48,451,132 (GRCm39)	R937Q	probably benign	Het
Mta3	A	G	17: 84,112,003 (GRCm39)	Y577C	probably damaging	Het
Nalcn	A	G	14: 123,753,063 (GRCm39)	F308L	possibly damaging	Het
Nat8	A	T	6: 85,807,873 (GRCm39)	S87T	probably benign	Het
Oplah	A	T	15: 76,185,410 (GRCm39)		probably null	Het
Or2ak6	A	G	11: 58,592,778 (GRCm39)	N84D	probably benign	Het
Or2ak6	A	C	11: 58,592,779 (GRCm39)	N84T	possibly damaging	Het
Or7e166	A	G	9: 19,624,109 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,232,204 (GRCm39)	I668L	possibly damaging	Het
Pecr	A	G	1: 72,316,444 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,956 (GRCm39)	E220G	possibly damaging	Het
Pnma8b	A	G	7: 16,679,199 (GRCm39)	K61R	unknown	Het
Prl8a6	C	T	13: 27,620,179 (GRCm39)	W81*	probably null	Het
Rab33b	C	T	3: 51,392,033 (GRCm39)		probably benign	Het
Rbm33	T	A	5: 28,557,772 (GRCm39)		probably null	Het
Relch	A	G	1: 105,649,101 (GRCm39)	S747G	probably benign	Het
Reln	C	T	5: 22,308,395 (GRCm39)	V325M	possibly damaging	Het
Rheb	A	C	5: 25,008,743 (GRCm39)	D158E	probably benign	Het
Rhebl1	T	A	15: 98,778,464 (GRCm39)		probably benign	Het
Rmdn2	T	A	17: 79,975,446 (GRCm39)	Y312N	probably damaging	Het
Scamp1	T	G	13: 94,368,594 (GRCm39)	N58T	probably benign	Het
Slc35a1	C	T	4: 34,683,322 (GRCm39)	V53M	probably benign	Het
Slc35f3	A	T	8: 127,115,872 (GRCm39)	L266F	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Ticrr	T	A	7: 79,344,471 (GRCm39)	S1445R	probably benign	Het
Ttc23l	T	C	15: 10,515,236 (GRCm39)	N381D	probably damaging	Het
Usp17ld	T	A	7: 102,899,781 (GRCm39)	K384*	probably null	Het
Vmn1r20	T	A	6: 57,409,050 (GRCm39)	Y125*	probably null	Het
Zfp738	G	T	13: 67,817,805 (GRCm39)	Q729K	probably benign	Het
Zfp770	T	A	2: 114,027,674 (GRCm39)	M132L	probably benign	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
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

PCR Primer
(F):5'- TTCAACGCACCCTACCTGAG -3'
(R):5'- ATTGGAGCCTGGTGGTAATC -3'

Sequencing Primer
(F):5'- GCACCCTACCTGAGGTATATAAG -3'
(R):5'- CCTGGTGGTAATCGATTTAAGGAAAC -3'

Posted On

2016-07-06