Mutagenetix > Incidental Mutations

Incidental Mutation 'R4986:Slain1'

385890

Institutional Source

Beutler Lab

Gene Symbol

Slain1

Ensembl Gene

ENSMUSG00000055717

Gene Name

SLAIN motif family, member 1

Synonyms

9630044O09Rik

MMRRC Submission

042580-MU

Accession Numbers

NCBI RefSeq: NM_198014.2; MGI:2145578

Is this an essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4986 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103650228-103704907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103688105 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 296 (R296S)

Ref Sequence

ENSEMBL: ENSMUSP00000070592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069443] [ENSMUST00000160805] [ENSMUST00000162818]

Predicted Effect

probably damaging
Transcript: ENSMUST00000069443
AA Change: R296S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070592
Gene: ENSMUSG00000055717
AA Change: R296S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	13	72	2e-3	SMART
low complexity region	91	102	N/A	INTRINSIC
low complexity region	105	120	N/A	INTRINSIC
low complexity region	129	173	N/A	INTRINSIC
Pfam:SLAIN	185	237	6.7e-19	PFAM
Pfam:SLAIN	230	579	1.7e-138	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159456
AA Change: R136S

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125685
Gene: ENSMUSG00000055717
AA Change: R136S

Domain	Start	End	E-Value	Type
Pfam:SLAIN	15	420	4e-141	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160117

Predicted Effect

probably benign
Transcript: ENSMUST00000160805
AA Change: R249S

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125128
Gene: ENSMUSG00000055717
AA Change: R249S

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
low complexity region	32	76	N/A	INTRINSIC
Pfam:SLAIN	88	532	2.6e-144	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162818
AA Change: R130S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123742
Gene: ENSMUSG00000055717
AA Change: R130S

Domain	Start	End	E-Value	Type
Pfam:SLAIN	19	212	2e-86	PFAM

Meta Mutation Damage Score

0.1494

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	T	14: 49,751,654	D619E	probably damaging	Het
Abcc9	A	T	6: 142,627,591	C1005S	probably benign	Het
Ccdc34	T	C	2: 110,017,869	M1T	probably null	Het
Ceacam5	T	A	7: 17,757,833	N709K	possibly damaging	Het
Ces2f	G	A	8: 104,952,025	S298N	probably benign	Het
Defa30	T	A	8: 21,135,416	Y65*	probably null	Het
Dock3	A	C	9: 106,931,983	C1314G	probably damaging	Het
Emc2	A	G	15: 43,511,784	M226V	probably benign	Het
Fat3	T	C	9: 15,998,340	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,600,693	D560G	probably benign	Het
Gm9944	T	C	4: 144,453,190		probably benign	Het
Gpr137c	A	T	14: 45,246,286		probably null	Het
Igf2bp2	C	T	16: 22,070,306		probably null	Het
Igsf10	T	C	3: 59,328,606	T1385A	probably benign	Het
Itpr2	T	A	6: 146,240,342	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,452,609	H248R	probably damaging	Het
Macf1	C	T	4: 123,391,121	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,558,545	F266L	possibly damaging	Het
Mecom	G	T	3: 29,980,699	P466Q	probably damaging	Het
Muc20	A	G	16: 32,777,635		probably benign	Het
Olfr1151	T	A	2: 87,857,514	L113Q	probably damaging	Het
Olfr1265	A	T	2: 90,037,428	N170Y	probably damaging	Het
Osmr	A	G	15: 6,816,580		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Sacs	T	A	14: 61,213,043	Y4179*	probably null	Het
Sept11	T	C	5: 93,161,241	V203A	probably damaging	Het
Skint9	T	A	4: 112,391,713	T173S	probably benign	Het
Slc36a3	T	A	11: 55,146,766	*93C	probably null	Het
Sp110	G	A	1: 85,591,760	P116S	probably benign	Het
Srl	T	C	16: 4,496,782	Y332C	probably benign	Het
Ubtf	G	A	11: 102,314,174	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984		probably benign	Het
Wdfy3	C	T	5: 101,943,119	D532N	probably benign	Het
Ybx1	C	T	4: 119,282,430	V123I	probably damaging	Het
Zfp944	A	T	17: 22,339,230	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,657,557	F113I	probably benign	Het

Other mutations in Slain1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02248:Slain1	APN	14	103685777	missense	probably damaging	1.00
P0016:Slain1	UTSW	14	103685674	missense	probably benign	0.37
R0113:Slain1	UTSW	14	103685825	splice site	probably benign
R0547:Slain1	UTSW	14	103695275	missense	probably damaging	1.00
R2113:Slain1	UTSW	14	103650846	missense	possibly damaging	0.81
R6368:Slain1	UTSW	14	103656955	missense	probably benign	0.03
R6899:Slain1	UTSW	14	103650779	missense	possibly damaging	0.93
R7355:Slain1	UTSW	14	103702576	frame shift	probably null
R7442:Slain1	UTSW	14	103685714	missense	probably damaging	1.00
R7498:Slain1	UTSW	14	103655993	splice site	probably null
R7910:Slain1	UTSW	14	103685764	missense	probably damaging	1.00
R8043:Slain1	UTSW	14	103688346	missense	possibly damaging	0.95
Z1177:Slain1	UTSW	14	103684234	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCTTCACAGCCATGGGGATATAG -3'
(R):5'- TGCTGGAGAAAGTCTGTGAG -3'

Sequencing Primer
(F):5'- TGACCTAACATTAGATATGTGACTGG -3'
(R):5'- AAAGTCTGTGAGTGGGGGATCC -3'

Posted On

2016-05-10