Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Sel1l2'

453470

Institutional Source

Beutler Lab

Gene Symbol

Sel1l2

Ensembl Gene

ENSMUSG00000074764

Gene Name

sel-1 suppressor of lin-12-like 2 (C. elegans)

Synonyms

LOC228684

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

IGL02988 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

140071775-140231626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140090508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 378 (G378V)

Ref Sequence

ENSEMBL: ENSMUSP00000113800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122367]

AlphaFold

Q3V172

Predicted Effect

probably damaging
Transcript: ENSMUST00000122367
AA Change: G378V

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

SMART Domains

Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: G378V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	70	83	N/A	INTRINSIC
SEL1	107	142	1.99e2	SMART
SEL1	143	178	3.3e1	SMART
SEL1	179	214	5.7e-1	SMART
SEL1	215	250	6.3e-3	SMART
SEL1	297	333	6.59e-6	SMART
SEL1	334	370	1.32e-5	SMART
SEL1	371	406	4.55e-9	SMART
SEL1	407	442	4.02e-10	SMART
SEL1	443	478	2.72e-7	SMART
Blast:SEL1	511	550	9e-13	BLAST
SEL1	551	586	1.01e-6	SMART
SEL1	588	623	4.55e-9	SMART
transmembrane domain	661	683	N/A	INTRINSIC

Meta Mutation Damage Score

0.8335

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam20c	A	T	5: 138,741,749 (GRCm39)	E120V	probably benign	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	probably damaging	Het

Other mutations in Sel1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Sel1l2	APN	2	140,085,864 (GRCm39)	missense	possibly damaging	0.95
IGL01782:Sel1l2	APN	2	140,085,855 (GRCm39)	missense	probably damaging	1.00
IGL02238:Sel1l2	APN	2	140,089,859 (GRCm39)	missense	probably damaging	1.00
IGL02506:Sel1l2	APN	2	140,117,380 (GRCm39)	missense	possibly damaging	0.89
IGL02539:Sel1l2	APN	2	140,072,778 (GRCm39)	missense	probably damaging	1.00
IGL02999:Sel1l2	APN	2	140,072,724 (GRCm39)	missense	probably damaging	1.00
IGL03388:Sel1l2	APN	2	140,105,284 (GRCm39)	splice site	probably benign
R0386:Sel1l2	UTSW	2	140,117,361 (GRCm39)	missense	probably benign	0.11
R0426:Sel1l2	UTSW	2	140,082,832 (GRCm39)	nonsense	probably null
R0549:Sel1l2	UTSW	2	140,107,802 (GRCm39)	missense	probably damaging	0.99
R1404:Sel1l2	UTSW	2	140,071,979 (GRCm39)	splice site	probably benign
R1502:Sel1l2	UTSW	2	140,231,515 (GRCm39)	missense	probably damaging	0.99
R1746:Sel1l2	UTSW	2	140,127,157 (GRCm39)	missense	probably damaging	0.98
R2187:Sel1l2	UTSW	2	140,072,793 (GRCm39)	missense	probably damaging	1.00
R2233:Sel1l2	UTSW	2	140,086,085 (GRCm39)	missense	probably damaging	1.00
R2235:Sel1l2	UTSW	2	140,086,085 (GRCm39)	missense	probably damaging	1.00
R3402:Sel1l2	UTSW	2	140,082,958 (GRCm39)	missense	probably damaging	1.00
R4717:Sel1l2	UTSW	2	140,071,943 (GRCm39)	missense	possibly damaging	0.89
R4724:Sel1l2	UTSW	2	140,082,847 (GRCm39)	missense	probably damaging	0.99
R4840:Sel1l2	UTSW	2	140,105,390 (GRCm39)	missense	probably benign	0.00
R4948:Sel1l2	UTSW	2	140,086,086 (GRCm39)	missense	probably damaging	1.00
R6008:Sel1l2	UTSW	2	140,086,025 (GRCm39)	missense	probably damaging	1.00
R6058:Sel1l2	UTSW	2	140,082,889 (GRCm39)	missense	possibly damaging	0.94
R6389:Sel1l2	UTSW	2	140,087,274 (GRCm39)	missense	probably damaging	1.00
R7031:Sel1l2	UTSW	2	140,182,043 (GRCm39)	missense	possibly damaging	0.84
R7056:Sel1l2	UTSW	2	140,087,334 (GRCm39)	missense	probably benign	0.13
R7074:Sel1l2	UTSW	2	140,105,362 (GRCm39)	missense	probably damaging	1.00
R7213:Sel1l2	UTSW	2	140,086,055 (GRCm39)	missense	probably damaging	1.00
R7348:Sel1l2	UTSW	2	140,107,644 (GRCm39)	missense	probably benign
R8030:Sel1l2	UTSW	2	140,082,938 (GRCm39)	missense	probably damaging	0.97
R8100:Sel1l2	UTSW	2	140,117,329 (GRCm39)	missense	probably damaging	1.00
R8165:Sel1l2	UTSW	2	140,104,626 (GRCm39)	missense	probably damaging	1.00
R8201:Sel1l2	UTSW	2	140,108,312 (GRCm39)	missense	probably damaging	1.00
R8343:Sel1l2	UTSW	2	140,072,753 (GRCm39)	missense	probably benign	0.03
R8968:Sel1l2	UTSW	2	140,127,209 (GRCm39)	missense	probably benign	0.14
R9038:Sel1l2	UTSW	2	140,117,384 (GRCm39)	missense	probably damaging	1.00
R9226:Sel1l2	UTSW	2	140,097,222 (GRCm39)	missense	probably damaging	1.00
X0019:Sel1l2	UTSW	2	140,090,535 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTCAGTTAACTCTCTGTCAG -3'
(R):5'- TGAATTAACCATCCGACGCC -3'

Sequencing Primer
(F):5'- TCAGTTAACTCTCTGTCAGATGTAC -3'
(R):5'- TTTCTAGTCAGAGGGAGTTATAAAGG -3'

Posted On

2017-02-08