Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01589:Slain2'

91548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slain2

Ensembl Gene

ENSMUSG00000036087

Gene Name

SLAIN motif family, member 2

Synonyms

5033405K12Rik, 8030444K12Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

IGL01589

Quality Score

Status

Chromosome

Chromosomal Location

73071705-73136184 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 73098789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143829] [ENSMUST00000144843] [ENSMUST00000200785]

AlphaFold

Q8CI08

Predicted Effect

probably benign
Transcript: ENSMUST00000143829

SMART Domains

Protein: ENSMUSP00000115871
Gene: ENSMUSG00000036087

Domain	Start	End	E-Value	Type
coiled coil region	4	41	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
low complexity region	97	106	N/A	INTRINSIC
Pfam:SLAIN	130	607	1.2e-166	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144843

SMART Domains

Protein: ENSMUSP00000116528
Gene: ENSMUSG00000036087

Domain	Start	End	E-Value	Type
coiled coil region	4	41	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
low complexity region	97	106	N/A	INTRINSIC
Pfam:SLAIN	130	581	4.3e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200785

SMART Domains

Protein: ENSMUSP00000144204
Gene: ENSMUSG00000036087

Domain	Start	End	E-Value	Type
Pfam:SLAIN	1	188	1.9e-77	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,046,003 (GRCm39)	F307S	probably damaging	Het
Abcc6	A	T	7: 45,652,096 (GRCm39)		probably benign	Het
Adamts12	T	A	15: 11,311,323 (GRCm39)	D1193E	probably benign	Het
Akap6	T	A	12: 53,186,447 (GRCm39)	L1287H	probably damaging	Het
Ascl3	A	G	7: 109,327,245 (GRCm39)	S25P	probably benign	Het
Brd2	A	G	17: 34,336,016 (GRCm39)	S66P	probably damaging	Het
Cacna1i	C	A	15: 80,271,960 (GRCm39)		probably benign	Het
Cdc5l	T	C	17: 45,715,602 (GRCm39)	Y670C	probably damaging	Het
Clybl	T	A	14: 122,608,834 (GRCm39)	I142N	probably damaging	Het
Cyp2c66	T	C	19: 39,172,379 (GRCm39)		probably null	Het
Dck	C	T	5: 88,922,095 (GRCm39)		probably benign	Het
Dsg1b	T	C	18: 20,542,651 (GRCm39)	Y1053H	probably damaging	Het
Gm9912	T	C	3: 148,890,986 (GRCm39)	D49G	unknown	Het
Gpr107	T	C	2: 31,057,163 (GRCm39)		probably benign	Het
Hsd3b7	T	C	7: 127,402,036 (GRCm39)	F227S	probably damaging	Het
Lrrtm2	T	A	18: 35,345,851 (GRCm39)	N484Y	probably damaging	Het
Muc19	A	T	15: 91,754,699 (GRCm39)		noncoding transcript	Het
Nodal	G	A	10: 61,254,176 (GRCm39)	R33Q	probably benign	Het
Or1a1	T	C	11: 74,086,587 (GRCm39)	L86P	probably damaging	Het
Plcb4	A	G	2: 135,809,038 (GRCm39)	I569V	probably benign	Het
Plekhg1	T	C	10: 3,913,631 (GRCm39)	Y1118H	probably benign	Het
Polr2a	T	G	11: 69,632,020 (GRCm39)	E1015D	probably benign	Het
Recql5	A	G	11: 115,785,495 (GRCm39)	F667S	probably damaging	Het
Scube1	T	C	15: 83,496,754 (GRCm39)	Y749C	probably damaging	Het
Serpinb1c	C	A	13: 33,070,155 (GRCm39)	V136F	probably damaging	Het
Slc10a7	T	C	8: 79,456,369 (GRCm39)	S296P	probably damaging	Het
Sspo	C	T	6: 48,428,112 (GRCm39)	R320W	probably damaging	Het
Usp16	G	A	16: 87,276,071 (GRCm39)	A469T	probably benign	Het
Vmn2r102	A	T	17: 19,899,066 (GRCm39)	L469F	probably benign	Het
Zfp772	A	G	7: 7,208,523 (GRCm39)	F107S	possibly damaging	Het

Other mutations in Slain2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02177:Slain2	APN	5	73,072,008 (GRCm39)	missense	probably benign	0.00
IGL02225:Slain2	APN	5	73,098,733 (GRCm39)	missense	probably damaging	0.99
R1630:Slain2	UTSW	5	73,133,347 (GRCm39)	missense	probably damaging	1.00
R1729:Slain2	UTSW	5	73,114,957 (GRCm39)	missense	probably damaging	1.00
R1784:Slain2	UTSW	5	73,114,957 (GRCm39)	missense	probably damaging	1.00
R1866:Slain2	UTSW	5	73,114,665 (GRCm39)	missense	probably damaging	1.00
R4743:Slain2	UTSW	5	73,114,927 (GRCm39)	nonsense	probably null
R4839:Slain2	UTSW	5	73,106,066 (GRCm39)	missense	probably damaging	1.00
R4853:Slain2	UTSW	5	73,105,941 (GRCm39)	missense	probably benign	0.01
R4914:Slain2	UTSW	5	73,115,609 (GRCm39)	missense	probably benign	0.26
R5859:Slain2	UTSW	5	73,105,888 (GRCm39)	intron	probably benign
R6631:Slain2	UTSW	5	73,114,748 (GRCm39)	missense	probably benign	0.01
R7251:Slain2	UTSW	5	73,131,891 (GRCm39)	missense	possibly damaging	0.75
R7327:Slain2	UTSW	5	73,132,002 (GRCm39)	missense	probably benign	0.00
R7528:Slain2	UTSW	5	73,072,143 (GRCm39)	nonsense	probably null
R7586:Slain2	UTSW	5	73,123,165 (GRCm39)	missense	probably benign
R7763:Slain2	UTSW	5	73,105,953 (GRCm39)	missense	probably damaging	1.00
R7973:Slain2	UTSW	5	73,112,779 (GRCm39)	nonsense	probably null
R8994:Slain2	UTSW	5	73,114,984 (GRCm39)	missense	probably damaging	1.00
R9765:Slain2	UTSW	5	73,114,969 (GRCm39)	nonsense	probably null

Posted On

2013-12-09