Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Sel1l2'

515674

Institutional Source

Beutler Lab

Gene Symbol

Sel1l2

Ensembl Gene

ENSMUSG00000074764

Gene Name

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

Synonyms

LOC228684

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140071775-140231626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140087274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 466 (A466S)

Ref Sequence

ENSEMBL: ENSMUSP00000113800 (fasta)

Gene Model

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

AlphaFold

Q3V172

Predicted Effect

probably damaging
Transcript: ENSMUST00000122367
AA Change: A466S

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

SMART Domains

Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: A466S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Cntd1	A	T	11: 101,176,577 (GRCm39)	I225F	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	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
IGL02988:Sel1l2	UTSW	2	140,090,508 (GRCm39)	missense	probably damaging	1.00
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
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'- AGAGGAAAGAGTCATTTCTAGCCTTC -3'
(R):5'- GCAGTTTGTCTCACGCCTTG -3'

Sequencing Primer
(F):5'- AAAGAGTCATTTCTAGCCTTCTCTTC -3'
(R):5'- CCTGTTCAGACTAGTGGATATCAC -3'

Posted On

2018-05-04