Mutagenetix > Incidental Mutation

Incidental Mutation 'R1117:Sel1l3'

97402

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

039190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53264425-53370794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53329949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 469 (T469S)

Ref Sequence

ENSEMBL: ENSMUSP00000031090 (fasta)

Gene Model

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

AlphaFold

Q80TS8

Predicted Effect

probably benign
Transcript: ENSMUST00000031090
AA Change: T469S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: T469S

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: ENSMUST00000196550

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	G	A	10: 83,344,487 (GRCm39)	T353I	probably benign	Het
Arpc1b	T	C	5: 145,062,564 (GRCm39)	V226A	possibly damaging	Het
Casz1	C	A	4: 149,019,052 (GRCm39)	T451K	probably damaging	Het
Ccr4	C	T	9: 114,321,085 (GRCm39)	V327M	probably benign	Het
Cntrl	A	G	2: 35,017,985 (GRCm39)	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,260 (GRCm39)	D412G	probably benign	Het
Crispld1	T	A	1: 17,819,846 (GRCm39)	N281K	probably benign	Het
Cul3	T	C	1: 80,258,641 (GRCm39)	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,700,903 (GRCm39)	T305M	probably damaging	Het
Elp4	T	C	2: 105,672,656 (GRCm39)	D143G	probably benign	Het
Etnppl	A	G	3: 130,428,212 (GRCm39)	I462M	probably benign	Het
Fmo4	A	G	1: 162,631,232 (GRCm39)	V245A	probably benign	Het
Gm4076	A	G	13: 85,275,437 (GRCm39)		noncoding transcript	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,096,484 (GRCm39)	M8I	probably benign	Het
Klk1b22	A	T	7: 43,766,283 (GRCm39)	M255L	probably benign	Het
Mmrn1	T	A	6: 60,953,309 (GRCm39)	I530K	possibly damaging	Het
Muc21	T	C	17: 35,930,920 (GRCm39)		probably benign	Het
Nid2	A	C	14: 19,813,732 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,058 (GRCm39)	F123S	probably damaging	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or9e1	A	G	11: 58,732,641 (GRCm39)	K234E	possibly damaging	Het
Peak1	G	A	9: 56,165,702 (GRCm39)	T742M	probably benign	Het
Sez6	A	G	11: 77,865,340 (GRCm39)	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,091,025 (GRCm39)	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,707,717 (GRCm39)	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Umod	T	C	7: 119,076,529 (GRCm39)	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,923,382 (GRCm39)	T43A	probably benign	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
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
R5544:Sel1l3	UTSW	5	53,357,644 (GRCm39)	missense	probably damaging	0.98
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'- TACACCTGACCCTGCTGGTATCTG -3'
(R):5'- GCCTCGAATTGATCCAAAGGGCAC -3'

Sequencing Primer
(F):5'- CCTGCTGGTATCTGGGCTAAG -3'
(R):5'- CAAAGGGCACTGGTTTGCATATC -3'

Posted On

2014-01-05