Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02000:Sel1l3'

183015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sel1l3

Ensembl Gene

ENSMUSG00000029189

Gene Name

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

Synonyms

2310045A20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02000

Quality Score

Status

Chromosome

Chromosomal Location

53264425-53370794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53302835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 678 (D678V)

Ref Sequence

ENSEMBL: ENSMUSP00000031090 (fasta)

Gene Model

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

AlphaFold

Q80TS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031090
AA Change: D678V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: D678V

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: ENSMUST00000104128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196435

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid5a	T	C	1: 36,358,578 (GRCm39)	F450S	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Cd101	G	A	3: 100,919,398 (GRCm39)	P568L	probably benign	Het
Cdkl4	T	C	17: 80,851,192 (GRCm39)	E170G	probably damaging	Het
Chit1	A	G	1: 134,074,413 (GRCm39)	E240G	probably benign	Het
Duox2	T	C	2: 122,121,190 (GRCm39)	T741A	probably benign	Het
Eef2	T	C	10: 81,015,845 (GRCm39)	V427A	probably benign	Het
Ewsr1	T	C	11: 5,038,077 (GRCm39)	D105G	probably damaging	Het
Ftsj3	C	T	11: 106,141,233 (GRCm39)	R629Q	probably benign	Het
Gm10406	C	T	14: 18,341,703 (GRCm39)	G181E	probably benign	Het
Ilk	A	G	7: 105,390,376 (GRCm39)	H185R	probably benign	Het
Lamc1	A	T	1: 153,116,179 (GRCm39)	C1001S	probably damaging	Het
Mcidas	T	C	13: 113,133,974 (GRCm39)	S153P	probably benign	Het
Mtcl1	T	C	17: 66,661,185 (GRCm39)	E931G	probably benign	Het
Myo10	C	T	15: 25,808,152 (GRCm39)	R1925C	probably damaging	Het
Notch3	A	G	17: 32,341,716 (GRCm39)	V2012A	probably damaging	Het
Or6c76	C	A	10: 129,611,938 (GRCm39)	H67N	probably benign	Het
Parp6	A	G	9: 59,556,175 (GRCm39)	M542V	probably benign	Het
Rab27a	G	A	9: 72,992,254 (GRCm39)	G94D	probably damaging	Het
Ralgapb	A	G	2: 158,296,034 (GRCm39)		probably benign	Het
Rassf4	T	C	6: 116,622,933 (GRCm39)	E26G	probably benign	Het
Rnf166	C	T	8: 123,193,961 (GRCm39)	D221N	probably damaging	Het
Rptn	G	T	3: 93,303,735 (GRCm39)	G356V	probably benign	Het
Rwdd2b	T	A	16: 87,233,828 (GRCm39)		probably benign	Het
Scfd1	T	A	12: 51,460,900 (GRCm39)	S337T	probably benign	Het
Sidt1	A	T	16: 44,106,732 (GRCm39)	F233I	probably damaging	Het
Slc12a4	T	C	8: 106,671,864 (GRCm39)	D917G	probably damaging	Het
Slc22a2	A	T	17: 12,803,270 (GRCm39)	I35F	possibly damaging	Het
Smco1	A	T	16: 32,092,751 (GRCm39)	T141S	possibly damaging	Het
Svs6	T	C	2: 164,159,352 (GRCm39)		probably benign	Het
Syne2	C	T	12: 76,062,419 (GRCm39)	A4247V	probably damaging	Het
Tacc2	T	A	7: 130,330,898 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,885,531 (GRCm39)	I358F	probably damaging	Het
Thnsl2	A	G	6: 71,111,203 (GRCm39)	S222P	probably damaging	Het
Tmem25	G	A	9: 44,709,568 (GRCm39)	R78*	probably null	Het
Ube2l6	T	C	2: 84,639,506 (GRCm39)		probably benign	Het
Usp10	T	A	8: 120,675,480 (GRCm39)	Y63N	possibly damaging	Het
Vit	A	G	17: 78,912,915 (GRCm39)	I283V	possibly damaging	Het
Vmn1r214	G	A	13: 23,219,270 (GRCm39)	V255I	possibly damaging	Het
Xpo1	A	G	11: 23,246,003 (GRCm39)	R1038G	probably damaging	Het
Ybx1	T	A	4: 119,139,509 (GRCm39)	N50I	probably damaging	Het
Zhx1	T	C	15: 57,917,683 (GRCm39)	K188E	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
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
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

Posted On

2014-05-07