Mutagenetix > Incidental Mutation

Incidental Mutation 'R2422:Semp2l1'

249341

Institutional Source

Beutler Lab

Gene Symbol

Semp2l1

Ensembl Gene

ENSMUSG00000091318

Gene Name

SUMO/sentrin specific peptidase 2-like 1

Synonyms

Gm5415

MMRRC Submission

040384-MU

Accession Numbers

Essential gene?

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

Stock #

R2422 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32582767-32586375 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32584942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 323 (A323T)

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

possibly damaging
Transcript: ENSMUST00000171322
AA Change: A323T

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: A323T

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

Meta Mutation Damage Score

0.0689

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,421,864 (GRCm39)	N47I	probably benign	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Adck2	C	T	6: 39,560,932 (GRCm39)	A440V	possibly damaging	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc121rt3	A	T	5: 112,502,984 (GRCm39)	V240D	probably damaging	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Ccdc77	A	G	6: 120,316,120 (GRCm39)	C186R	probably benign	Het
Cdk12	T	G	11: 98,109,900 (GRCm39)	S640R	probably benign	Het
Cdv3	T	C	9: 103,242,317 (GRCm39)		probably benign	Het
Celf2	G	A	2: 6,558,700 (GRCm39)	T364I	probably damaging	Het
Cmtr2	C	A	8: 110,949,413 (GRCm39)	S574R	probably benign	Het
Col14a1	T	C	15: 55,313,318 (GRCm39)	L56P	unknown	Het
Cracdl	C	A	1: 37,652,556 (GRCm39)	V1084L	probably benign	Het
Dctn1	C	T	6: 83,176,782 (GRCm39)	L1241F	possibly damaging	Het
Depdc5	T	C	5: 33,148,379 (GRCm39)	F1505S	probably damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Entpd7	A	T	19: 43,716,527 (GRCm39)	Y507F	possibly damaging	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Galr1	A	T	18: 82,424,048 (GRCm39)	N76K	probably damaging	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm4950	T	A	18: 51,998,856 (GRCm39)	Q33L	probably benign	Het
Gnat2	A	T	3: 108,002,855 (GRCm39)	M88L	probably damaging	Het
Gpr183	A	G	14: 122,191,589 (GRCm39)	Y311H	probably damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hipk3	C	T	2: 104,301,830 (GRCm39)	G121R	probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Homez	C	A	14: 55,095,031 (GRCm39)	V226F	probably benign	Het
Inf2	C	A	12: 112,577,258 (GRCm39)	A1034D	unknown	Het
Kcnc4	G	T	3: 107,352,863 (GRCm39)	P572T	probably benign	Het
Kmt2d	T	C	15: 98,760,147 (GRCm39)	E1037G	unknown	Het
Krt78	T	C	15: 101,855,699 (GRCm39)	E704G	probably damaging	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lmbrd2	C	T	15: 9,194,852 (GRCm39)	T618M	possibly damaging	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mettl22	T	C	16: 8,305,225 (GRCm39)	F293L	probably damaging	Het
Mib1	T	C	18: 10,751,906 (GRCm39)	S263P	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Nek1	T	C	8: 61,472,935 (GRCm39)	V152A	probably damaging	Het
Nlrp4d	T	A	7: 10,096,872 (GRCm39)	D876V	probably benign	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or11g7	T	C	14: 50,690,893 (GRCm39)	L128P	probably damaging	Het
Or5an11	A	T	19: 12,246,283 (GRCm39)	T230S	probably damaging	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Pcdha11	G	T	18: 37,140,325 (GRCm39)	L651F	probably damaging	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Plxnb1	G	A	9: 108,937,506 (GRCm39)	R1169H	probably benign	Het
Ppp4r3a	A	G	12: 101,008,912 (GRCm39)		probably benign	Het
Pum2	A	T	12: 8,798,931 (GRCm39)	Q930L	possibly damaging	Het
Rbp4	T	C	19: 38,112,792 (GRCm39)	E67G	probably damaging	Het
Rgs9	C	A	11: 109,116,603 (GRCm39)		probably null	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Smc1a	A	G	X: 150,830,971 (GRCm39)		probably benign	Het
Snx33	C	A	9: 56,825,822 (GRCm39)	M546I	probably benign	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Spata2	C	T	2: 167,326,126 (GRCm39)	R231Q	probably damaging	Het
Stard9	C	T	2: 120,530,765 (GRCm39)	R2341C	probably benign	Het
Tas2r116	A	T	6: 132,832,557 (GRCm39)	I53F	possibly damaging	Het
Tlk1	T	C	2: 70,600,349 (GRCm39)	E110G	probably damaging	Het
Tmem102	T	A	11: 69,695,363 (GRCm39)	E203V	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,907 (GRCm39)	I82T	possibly damaging	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wdr77	A	T	3: 105,867,337 (GRCm39)	K62*	probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp266	C	A	9: 20,410,558 (GRCm39)	V540L	possibly damaging	Het
Zfp638	C	A	6: 83,943,421 (GRCm39)		probably benign	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het
Zfp951	G	A	5: 104,963,143 (GRCm39)	T141I	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
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
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'- GATGGTCTCACAGATAGACTTCC -3'
(R):5'- AAATTGAGAATGCACTGGGTCC -3'

Sequencing Primer
(F):5'- CCTGTCTGTCCGATGGAATC -3'
(R):5'- GTCCAGGACCCCAAGAGGAAATC -3'

Posted On

2014-11-12