Mutagenetix > Incidental Mutation

Incidental Mutation 'R1764:Sel1l3'

193270

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

039796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53264425-53370794 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 53327789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 497 (E497*)

Ref Sequence

ENSEMBL: ENSMUSP00000031090 (fasta)

Gene Model

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

AlphaFold

Q80TS8

Predicted Effect

probably null
Transcript: ENSMUST00000031090
AA Change: E497*

SMART Domains

Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: E497*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,655 (GRCm39)	V401A	probably benign	Het
Abca7	G	T	10: 79,844,784 (GRCm39)	W1502L	probably damaging	Het
Adcy7	A	G	8: 89,035,468 (GRCm39)	E124G	probably benign	Het
Aif1l	G	A	2: 31,855,118 (GRCm39)	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,271,392 (GRCm39)	M373L	probably benign	Het
Alg6	T	C	4: 99,629,815 (GRCm39)	Y131H	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arrdc4	A	T	7: 68,391,622 (GRCm39)	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,331,821 (GRCm39)	I305T	probably benign	Het
Atp5f1b	T	A	10: 127,919,949 (GRCm39)		probably benign	Het
Atp8a1	C	A	5: 67,788,910 (GRCm39)	M1044I	probably benign	Het
Atp9b	C	T	18: 80,952,806 (GRCm39)		probably null	Het
Brd10	T	A	19: 29,696,560 (GRCm39)	T978S	possibly damaging	Het
Btaf1	A	G	19: 36,928,518 (GRCm39)	H113R	probably benign	Het
C87436	G	T	6: 86,430,594 (GRCm39)	C338F	possibly damaging	Het
Casz1	T	C	4: 149,027,357 (GRCm39)		probably benign	Het
Cbr3	T	A	16: 93,487,370 (GRCm39)	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,722,097 (GRCm39)	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,521,174 (GRCm39)	K77R	probably benign	Het
Cdc34	G	T	10: 79,521,172 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,862,070 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,706,157 (GRCm39)	E880G	probably damaging	Het
Cers1	T	G	8: 70,774,141 (GRCm39)		probably null	Het
Cntn5	T	C	9: 9,673,988 (GRCm39)	I705V	probably benign	Het
Dennd4c	T	A	4: 86,721,247 (GRCm39)	D636E	probably damaging	Het
Dnah11	T	C	12: 118,154,560 (GRCm39)	E240G	probably benign	Het
Dnah2	T	C	11: 69,314,369 (GRCm39)	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,496,583 (GRCm39)	E151G	probably damaging	Het
Efcab9	T	G	11: 32,474,457 (GRCm39)	T9P	possibly damaging	Het
Eif4g2	A	T	7: 110,673,694 (GRCm39)	F725Y	probably damaging	Het
Epha6	T	A	16: 59,596,091 (GRCm39)	I867F	probably null	Het
Erbin	T	C	13: 103,979,959 (GRCm39)		probably benign	Het
Evi5l	A	G	8: 4,253,560 (GRCm39)	E468G	probably damaging	Het
Filip1l	C	T	16: 57,390,401 (GRCm39)	R330W	probably damaging	Het
Fmo3	C	T	1: 162,786,142 (GRCm39)	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,510,481 (GRCm39)	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,520,770 (GRCm39)		probably benign	Het
Gm5581	T	A	6: 131,158,362 (GRCm39)		noncoding transcript	Het
Gon4l	G	T	3: 88,799,906 (GRCm39)	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,085,980 (GRCm39)	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,445,893 (GRCm39)	R85C	probably benign	Het
Kalrn	C	T	16: 34,033,243 (GRCm39)	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,376 (GRCm39)	V117E	probably damaging	Het
Mapk11	A	G	15: 89,028,594 (GRCm39)		probably null	Het
Mcm3	G	A	1: 20,876,103 (GRCm39)	R664C	probably damaging	Het
Mex3d	A	G	10: 80,222,770 (GRCm39)	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,292,771 (GRCm39)	I260T	probably benign	Het
Ncor2	G	T	5: 125,105,679 (GRCm39)	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,638,189 (GRCm39)	D441E	probably damaging	Het
Nek5	A	T	8: 22,599,928 (GRCm39)	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,146,447 (GRCm39)	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,687,391 (GRCm39)	T681K	probably damaging	Het
Or13a24	T	C	7: 140,154,383 (GRCm39)	W106R	probably damaging	Het
Or4f14	A	G	2: 111,742,526 (GRCm39)	F250L	possibly damaging	Het
Otogl	C	T	10: 107,735,322 (GRCm39)	W154*	probably null	Het
Pcdh20	T	C	14: 88,706,620 (GRCm39)	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,620,324 (GRCm39)	S705P	probably damaging	Het
Piezo2	T	C	18: 63,257,713 (GRCm39)	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,499,615 (GRCm39)	Q954R	probably damaging	Het
Pramel23	C	A	4: 143,424,840 (GRCm39)	C201F	probably benign	Het
Prkcq	G	A	2: 11,237,442 (GRCm39)	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,218,489 (GRCm39)		probably null	Het
Pttg1ip2	A	T	5: 5,528,943 (GRCm39)	I24N	possibly damaging	Het
Rb1cc1	A	G	1: 6,284,904 (GRCm39)		probably benign	Het
Rbm5	A	T	9: 107,644,763 (GRCm39)	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,690,805 (GRCm39)	V1082L	probably damaging	Het
Scart2	A	G	7: 139,877,178 (GRCm39)	E831G	probably benign	Het
Serpina6	A	T	12: 103,620,182 (GRCm39)	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,304,532 (GRCm39)	T166S	probably benign	Het
Skint7	T	C	4: 111,839,270 (GRCm39)	L188S	probably benign	Het
Slc25a45	C	T	19: 5,934,958 (GRCm39)	A269V	probably damaging	Het
Sltm	A	G	9: 70,469,082 (GRCm39)	T114A	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spen	C	A	4: 141,200,261 (GRCm39)	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,247,275 (GRCm39)	I445F	possibly damaging	Het
Stox2	A	T	8: 47,647,051 (GRCm39)	Y200*	probably null	Het
Strada	C	A	11: 106,055,010 (GRCm39)	R384L	probably damaging	Het
Tctn2	G	A	5: 124,757,094 (GRCm39)		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,299,282 (GRCm39)	R461L	probably benign	Het
Tmem65	A	G	15: 58,661,998 (GRCm39)		probably benign	Het
Tpst1	G	T	5: 130,143,343 (GRCm39)	V294F	possibly damaging	Het
Trim23	A	G	13: 104,335,126 (GRCm39)	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,542,678 (GRCm39)	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,183,916 (GRCm39)	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,050,067 (GRCm39)	C561S	probably damaging	Het
Vwa8	A	G	14: 79,145,635 (GRCm39)	D104G	probably damaging	Het
Wdr25	T	A	12: 108,992,364 (GRCm39)	L73*	probably null	Het
Wnt9a	G	A	11: 59,221,728 (GRCm39)	A209T	probably benign	Het
Zcchc17	A	C	4: 130,223,388 (GRCm39)	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,335,987 (GRCm39)	M375L	probably benign	Het
Zfhx3	T	C	8: 109,678,276 (GRCm39)	F3109L	probably benign	Het
Zfp202	T	A	9: 40,121,762 (GRCm39)	D286E	probably benign	Het
Zzef1	T	C	11: 72,784,158 (GRCm39)	L2021P	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
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
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'- AGCCCTGGCTTTAGATAAAGCATCG -3'
(R):5'- TCCAGGCATATTAAGCCTGCCCTC -3'

Sequencing Primer
(F):5'- CGCTGTGGACACACAAGG -3'
(R):5'- ATATTAAGCCTGCCCTCCCATC -3'

Posted On

2014-05-23