Mutagenetix > Incidental Mutation

Incidental Mutation 'R5544:Sel1l3'

436146

Institutional Source

Beutler Lab

Gene Symbol

Sel1l3

Ensembl Gene

ENSMUSG00000029189

Gene Name

sel-1 suppressor of lin-12-like 3 (C. elegans)

Synonyms

2310045A20Rik

MMRRC Submission

043102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5544 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53264425-53370794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53357644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 116 (V116D)

Ref Sequence

ENSEMBL: ENSMUSP00000031090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031090]

AlphaFold

Q80TS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031090
AA Change: V116D

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: V116D

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
SEL1	575	609	3.39e1	SMART
SEL1	611	647	1.85e1	SMART
SEL1	694	730	5.27e-5	SMART
SEL1	732	767	2.94e-3	SMART
SEL1	768	800	5.32e-1	SMART
SEL1	801	839	1.23e-5	SMART
SEL1	840	877	8.55e1	SMART
SEL1	952	988	2.56e-3	SMART
low complexity region	1048	1058	N/A	INTRINSIC
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1102	1127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199919

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	G	A	9: 30,863,999 (GRCm39)	A372T	probably damaging	Het
Ap4m1	A	G	5: 138,176,632 (GRCm39)	T411A	probably benign	Het
Arid3b	T	A	9: 57,705,380 (GRCm39)	K274*	probably null	Het
Bcan	A	G	3: 87,900,360 (GRCm39)		probably null	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
C9	T	A	15: 6,526,508 (GRCm39)	V514D	probably damaging	Het
Cdk2	A	C	10: 128,535,008 (GRCm39)	D336E	probably benign	Het
Corin	A	T	5: 72,462,357 (GRCm39)	Y825*	probably null	Het
Cyp17a1	A	G	19: 46,661,093 (GRCm39)	Y64H	probably damaging	Het
Dock4	T	G	12: 40,884,701 (GRCm39)	I1735S	possibly damaging	Het
Dock7	T	C	4: 98,855,494 (GRCm39)	H1486R	probably damaging	Het
Fam171b	C	A	2: 83,685,871 (GRCm39)	A185D	possibly damaging	Het
Fbxl13	A	G	5: 21,729,489 (GRCm39)	I441T	probably damaging	Het
Gm7347	T	A	5: 26,260,016 (GRCm39)	D178V	possibly damaging	Het
Greb1	C	A	12: 16,723,797 (GRCm39)	C1884F	probably damaging	Het
Kdr	G	A	5: 76,121,403 (GRCm39)	R536*	probably null	Het
Lamc2	T	C	1: 152,999,799 (GRCm39)	T1187A	possibly damaging	Het
Mal	T	A	2: 127,476,937 (GRCm39)	H142L	probably damaging	Het
Map4k2	A	C	19: 6,395,944 (GRCm39)		probably null	Het
Morn4	T	C	19: 42,064,686 (GRCm39)	T101A	possibly damaging	Het
Neto2	A	G	8: 86,374,506 (GRCm39)	V241A	possibly damaging	Het
Nprl2	T	C	9: 107,421,808 (GRCm39)	V232A	probably benign	Het
Pcdhb13	T	C	18: 37,576,573 (GRCm39)	V317A	possibly damaging	Het
Pcdhb17	T	A	18: 37,620,474 (GRCm39)	C755S	possibly damaging	Het
Pgc	A	G	17: 48,043,429 (GRCm39)	D259G	probably benign	Het
Ptprh	C	A	7: 4,583,909 (GRCm39)	E228*	probably null	Het
R3hdml	A	G	2: 163,340,342 (GRCm39)	T170A	probably damaging	Het
Retreg2	T	G	1: 75,121,333 (GRCm39)	*174G	probably null	Het
Rps6ka1	A	G	4: 133,599,326 (GRCm39)	S34P	probably benign	Het
Rptn	A	G	3: 93,305,780 (GRCm39)	T1038A	possibly damaging	Het
Sidt2	A	T	9: 45,855,753 (GRCm39)	Y509N	probably damaging	Het
Slc16a11	T	A	11: 70,105,826 (GRCm39)		probably null	Het
Thsd7a	G	T	6: 12,379,470 (GRCm39)	Q985K	possibly damaging	Het
Ttn	T	C	2: 76,556,882 (GRCm39)	N30041S	probably benign	Het
Vmn1r231	A	G	17: 21,110,840 (GRCm39)	I25T	probably damaging	Het
Wdr81	T	C	11: 75,332,623 (GRCm39)	D1926G	probably damaging	Het

Other mutations in Sel1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Sel1l3	APN	5	53,273,675 (GRCm39)	missense	probably damaging	0.96
IGL01585:Sel1l3	APN	5	53,311,578 (GRCm39)	missense	probably damaging	0.99
IGL01717:Sel1l3	APN	5	53,357,510 (GRCm39)	missense	probably damaging	0.99
IGL01771:Sel1l3	APN	5	53,279,183 (GRCm39)	missense	probably damaging	0.99
IGL01926:Sel1l3	APN	5	53,357,485 (GRCm39)	missense	probably benign	0.26
IGL01963:Sel1l3	APN	5	53,357,680 (GRCm39)	missense	probably damaging	0.99
IGL02000:Sel1l3	APN	5	53,302,835 (GRCm39)	missense	probably damaging	1.00
IGL02132:Sel1l3	APN	5	53,327,747 (GRCm39)	missense	possibly damaging	0.89
IGL02198:Sel1l3	APN	5	53,297,141 (GRCm39)	splice site	probably benign
IGL02930:Sel1l3	APN	5	53,280,559 (GRCm39)	missense	possibly damaging	0.65
IGL03146:Sel1l3	APN	5	53,311,585 (GRCm39)	missense	probably benign	0.00
IGL03175:Sel1l3	APN	5	53,279,199 (GRCm39)	missense	probably damaging	1.00
R0083:Sel1l3	UTSW	5	53,295,244 (GRCm39)	missense	possibly damaging	0.79
R0108:Sel1l3	UTSW	5	53,295,244 (GRCm39)	missense	possibly damaging	0.79
R0108:Sel1l3	UTSW	5	53,295,244 (GRCm39)	missense	possibly damaging	0.79
R0940:Sel1l3	UTSW	5	53,301,379 (GRCm39)	splice site	probably benign
R1027:Sel1l3	UTSW	5	53,302,820 (GRCm39)	missense	possibly damaging	0.68
R1117:Sel1l3	UTSW	5	53,329,949 (GRCm39)	missense	probably benign	0.00
R1145:Sel1l3	UTSW	5	53,289,169 (GRCm39)	missense	probably damaging	0.99
R1145:Sel1l3	UTSW	5	53,289,169 (GRCm39)	missense	probably damaging	0.99
R1146:Sel1l3	UTSW	5	53,274,445 (GRCm39)	missense	possibly damaging	0.79
R1146:Sel1l3	UTSW	5	53,274,445 (GRCm39)	missense	possibly damaging	0.79
R1345:Sel1l3	UTSW	5	53,357,559 (GRCm39)	missense	possibly damaging	0.86
R1370:Sel1l3	UTSW	5	53,357,559 (GRCm39)	missense	possibly damaging	0.86
R1503:Sel1l3	UTSW	5	53,295,271 (GRCm39)	missense	probably damaging	0.98
R1747:Sel1l3	UTSW	5	53,302,887 (GRCm39)	missense	possibly damaging	0.91
R1764:Sel1l3	UTSW	5	53,327,789 (GRCm39)	nonsense	probably null
R2872:Sel1l3	UTSW	5	53,295,225 (GRCm39)	nonsense	probably null
R2872:Sel1l3	UTSW	5	53,295,225 (GRCm39)	nonsense	probably null
R3434:Sel1l3	UTSW	5	53,274,432 (GRCm39)	missense	probably benign	0.44
R4043:Sel1l3	UTSW	5	53,345,396 (GRCm39)	nonsense	probably null
R4074:Sel1l3	UTSW	5	53,311,629 (GRCm39)	missense	probably damaging	0.99
R4727:Sel1l3	UTSW	5	53,301,525 (GRCm39)	critical splice acceptor site	probably null
R4788:Sel1l3	UTSW	5	53,289,175 (GRCm39)	missense	probably benign	0.41
R4900:Sel1l3	UTSW	5	53,289,184 (GRCm39)	missense	probably damaging	1.00
R5000:Sel1l3	UTSW	5	53,357,776 (GRCm39)	missense	probably damaging	0.97
R5090:Sel1l3	UTSW	5	53,357,388 (GRCm39)	missense	probably benign	0.03
R5330:Sel1l3	UTSW	5	53,343,351 (GRCm39)	missense	possibly damaging	0.80
R5456:Sel1l3	UTSW	5	53,357,378 (GRCm39)	missense	probably benign	0.13
R5848:Sel1l3	UTSW	5	53,342,150 (GRCm39)	missense	possibly damaging	0.91
R6132:Sel1l3	UTSW	5	53,357,531 (GRCm39)	missense	possibly damaging	0.77
R6188:Sel1l3	UTSW	5	53,313,061 (GRCm39)	missense	possibly damaging	0.70
R6622:Sel1l3	UTSW	5	53,297,202 (GRCm39)	missense	probably damaging	0.98
R7015:Sel1l3	UTSW	5	53,329,916 (GRCm39)	missense	probably benign	0.03
R7200:Sel1l3	UTSW	5	53,301,451 (GRCm39)	missense	probably benign	0.22
R7271:Sel1l3	UTSW	5	53,273,704 (GRCm39)	missense	probably damaging	0.98
R7378:Sel1l3	UTSW	5	53,273,751 (GRCm39)	missense	probably benign	0.02
R7479:Sel1l3	UTSW	5	53,274,462 (GRCm39)	missense	probably damaging	0.99
R7563:Sel1l3	UTSW	5	53,343,326 (GRCm39)	missense	probably damaging	1.00
R7643:Sel1l3	UTSW	5	53,280,504 (GRCm39)	splice site	probably null
R7741:Sel1l3	UTSW	5	53,357,593 (GRCm39)	missense	probably damaging	1.00
R7743:Sel1l3	UTSW	5	53,293,227 (GRCm39)	missense	probably benign	0.07
R7861:Sel1l3	UTSW	5	53,301,406 (GRCm39)	missense	probably damaging	0.96
R7904:Sel1l3	UTSW	5	53,297,166 (GRCm39)	missense	probably benign	0.24
R8222:Sel1l3	UTSW	5	53,345,296 (GRCm39)	critical splice donor site	probably null
R8724:Sel1l3	UTSW	5	53,293,165 (GRCm39)	nonsense	probably null
R8788:Sel1l3	UTSW	5	53,332,148 (GRCm39)	nonsense	probably null
R8988:Sel1l3	UTSW	5	53,280,771 (GRCm39)	missense	probably damaging	0.96
R9111:Sel1l3	UTSW	5	53,279,213 (GRCm39)	splice site	probably benign
R9153:Sel1l3	UTSW	5	53,293,188 (GRCm39)	missense	probably benign	0.26
R9269:Sel1l3	UTSW	5	53,311,628 (GRCm39)	missense	probably damaging	1.00
R9399:Sel1l3	UTSW	5	53,265,486 (GRCm39)	missense	probably benign
R9455:Sel1l3	UTSW	5	53,289,157 (GRCm39)	missense	probably damaging	0.99
R9630:Sel1l3	UTSW	5	53,342,117 (GRCm39)	missense	possibly damaging	0.49
R9793:Sel1l3	UTSW	5	53,329,924 (GRCm39)	missense	probably benign	0.02
R9795:Sel1l3	UTSW	5	53,329,924 (GRCm39)	missense	probably benign	0.02
Z1088:Sel1l3	UTSW	5	53,273,538 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CGTGCAGCAAATTCTCCTCC -3'
(R):5'- TTCCAGAATTTTGTGCCATCG -3'

Sequencing Primer
(F):5'- CTGTGCCAGTGAGTAATCCAG -3'
(R):5'- ATCGTTGGGCAGGCAGACTTC -3'

Posted On

2016-10-24