Mutagenetix > Incidental Mutation

Incidental Mutation 'R5485:Sbsn'

432518

Institutional Source

Beutler Lab

Gene Symbol

Sbsn

Ensembl Gene

ENSMUSG00000046056

Gene Name

suprabasin

Synonyms

1110005D19Rik

MMRRC Submission

043046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30450896-30455559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30452542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 519 (V519A)

Ref Sequence

ENSEMBL: ENSMUSP00000079362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080518] [ENSMUST00000182227] [ENSMUST00000182229] [ENSMUST00000182721]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080518
AA Change: V519A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: V519A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
internal_repeat_2	27	208	2.58e-16	PROSPERO
internal_repeat_1	39	233	7e-25	PROSPERO
low complexity region	295	307	N/A	INTRINSIC
low complexity region	313	325	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC
low complexity region	349	361	N/A	INTRINSIC
internal_repeat_2	380	568	2.58e-16	PROSPERO
internal_repeat_1	446	626	7e-25	PROSPERO
low complexity region	637	651	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182227

SMART Domains

Protein: ENSMUSP00000138427
Gene: ENSMUSG00000046056

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	47	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182229

SMART Domains

Protein: ENSMUSP00000138561
Gene: ENSMUSG00000046056

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182577

SMART Domains

Protein: ENSMUSP00000138367
Gene: ENSMUSG00000046056

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182686

Predicted Effect

probably benign
Transcript: ENSMUST00000182721

SMART Domains

Protein: ENSMUSP00000138654
Gene: ENSMUSG00000046056

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
internal_repeat_1	26	68	1.41e-7	PROSPERO
internal_repeat_1	84	126	1.41e-7	PROSPERO
low complexity region	128	145	N/A	INTRINSIC

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,378 (GRCm39)	V85D	probably benign	Het
Abcb8	A	G	5: 24,605,159 (GRCm39)	N115S	probably benign	Het
Appl1	C	A	14: 26,684,823 (GRCm39)	L75F	probably damaging	Het
Atp13a5	A	G	16: 29,100,760 (GRCm39)		probably null	Het
Atp2c2	T	A	8: 120,479,801 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,864,979 (GRCm39)	I94F	probably damaging	Het
Clasp1	A	G	1: 118,395,643 (GRCm39)	I194V	possibly damaging	Het
Crebbp	A	C	16: 3,932,777 (GRCm39)	D1000E	probably benign	Het
Ctdnep1	C	T	11: 69,872,316 (GRCm39)	R3W	possibly damaging	Het
Dgkb	T	C	12: 38,177,363 (GRCm39)	V230A	probably damaging	Het
Duoxa2	T	C	2: 122,129,633 (GRCm39)	F38L	possibly damaging	Het
Ecd	T	C	14: 20,388,273 (GRCm39)	S172G	probably benign	Het
Endog	G	T	2: 30,061,663 (GRCm39)		probably benign	Het
Eqtn	G	A	4: 94,813,193 (GRCm39)	P131L	possibly damaging	Het
Gabbr1	T	A	17: 37,367,767 (GRCm39)	S290T	possibly damaging	Het
Glt8d2	T	A	10: 82,487,282 (GRCm39)	R319S	possibly damaging	Het
Gm16686	A	G	4: 88,673,641 (GRCm39)		probably benign	Het
Gm5709	A	T	3: 59,542,983 (GRCm39)		noncoding transcript	Het
Gm7381	T	C	8: 3,892,161 (GRCm39)		noncoding transcript	Het
Gorab	T	G	1: 163,213,871 (GRCm39)	D353A	possibly damaging	Het
Gstm1	A	G	3: 107,924,720 (GRCm39)	L20P	probably damaging	Het
Hexim2	A	G	11: 103,029,884 (GRCm39)	D312G	probably benign	Het
Hfm1	A	G	5: 106,995,528 (GRCm39)		probably null	Het
Mbd4	C	A	6: 115,827,679 (GRCm39)	A66S	probably benign	Het
Mmp27	T	A	9: 7,573,363 (GRCm39)	W152R	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mrps18b	A	T	17: 36,225,236 (GRCm39)	V102D	probably damaging	Het
Or10g3b	A	T	14: 52,586,776 (GRCm39)	C242*	probably null	Het
Peg10	T	A	6: 4,755,565 (GRCm39)	M47K	probably benign	Het
Plxnc1	T	G	10: 94,758,604 (GRCm39)	Q364P	probably benign	Het
Psd	A	T	19: 46,304,528 (GRCm39)		probably null	Het
Rims1	T	G	1: 22,522,289 (GRCm39)	I470L	possibly damaging	Het
Senp1	A	G	15: 97,964,377 (GRCm39)	V279A	probably benign	Het
Sfxn5	T	A	6: 85,309,582 (GRCm39)		probably benign	Het
Slc6a13	T	A	6: 121,313,032 (GRCm39)	M483K	probably damaging	Het
Slc6a21	G	A	7: 44,931,966 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,053,481 (GRCm39)	Y140C	probably damaging	Het
Spata32	A	G	11: 103,100,122 (GRCm39)	S128P	probably damaging	Het
Spty2d1	G	T	7: 46,647,633 (GRCm39)	T432K	possibly damaging	Het
Stx8	A	G	11: 67,911,792 (GRCm39)	Q170R	probably benign	Het
Sytl3	G	A	17: 6,982,879 (GRCm39)	V112I	probably benign	Het
Tdrkh	A	G	3: 94,336,019 (GRCm39)	I420V	probably benign	Het
Tmem117	T	C	15: 94,992,711 (GRCm39)	V457A	probably benign	Het
Tpk1	T	C	6: 43,642,746 (GRCm39)		probably benign	Het
Trpc2	GTGTCCTA	GTGTCCTATGTCCTA	7: 101,744,420 (GRCm39)		probably null	Het
Tsen54	A	G	11: 115,706,048 (GRCm39)	E90G	probably benign	Het
Ugt1a2	A	T	1: 88,128,968 (GRCm39)	M204L	probably damaging	Het
Vmn2r17	A	T	5: 109,567,972 (GRCm39)	I32F	probably benign	Het
Xkr6	T	C	14: 64,056,833 (GRCm39)	V248A	unknown	Het
Zfhx4	C	A	3: 5,308,067 (GRCm39)	S431Y	probably damaging	Het
Zfp318	T	A	17: 46,723,180 (GRCm39)	S1728T	possibly damaging	Het
Zfp563	T	C	17: 33,308,540 (GRCm39)		probably benign	Het

Other mutations in Sbsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Sbsn	APN	7	30,451,782 (GRCm39)	missense	possibly damaging	0.90
IGL02649:Sbsn	APN	7	30,452,683 (GRCm39)	missense	probably damaging	0.96
IGL03154:Sbsn	APN	7	30,451,153 (GRCm39)	missense	possibly damaging	0.94
PIT4495001:Sbsn	UTSW	7	30,452,391 (GRCm39)	intron	probably benign
PIT4687001:Sbsn	UTSW	7	30,452,391 (GRCm39)	intron	probably benign
R0427:Sbsn	UTSW	7	30,451,523 (GRCm39)	intron	probably benign
R0892:Sbsn	UTSW	7	30,454,244 (GRCm39)	missense	possibly damaging	0.46
R1129:Sbsn	UTSW	7	30,452,865 (GRCm39)	missense	probably benign
R1388:Sbsn	UTSW	7	30,451,576 (GRCm39)	missense	probably benign	0.09
R1437:Sbsn	UTSW	7	30,452,478 (GRCm39)	nonsense	probably null
R2436:Sbsn	UTSW	7	30,451,655 (GRCm39)	missense	possibly damaging	0.53
R4020:Sbsn	UTSW	7	30,455,390 (GRCm39)	missense	probably damaging	0.98
R5890:Sbsn	UTSW	7	30,452,692 (GRCm39)	missense	possibly damaging	0.46
R6616:Sbsn	UTSW	7	30,452,704 (GRCm39)	missense	possibly damaging	0.92
R6969:Sbsn	UTSW	7	30,452,616 (GRCm39)	missense	probably benign
R7302:Sbsn	UTSW	7	30,451,309 (GRCm39)	missense	probably benign	0.34
R7455:Sbsn	UTSW	7	30,452,602 (GRCm39)	missense	possibly damaging	0.46
R8225:Sbsn	UTSW	7	30,451,869 (GRCm39)	missense	probably benign	0.00
R8225:Sbsn	UTSW	7	30,451,419 (GRCm39)	intron	probably benign
R8330:Sbsn	UTSW	7	30,451,366 (GRCm39)	missense	possibly damaging	0.83
R8692:Sbsn	UTSW	7	30,451,522 (GRCm39)	missense	unknown
R8815:Sbsn	UTSW	7	30,454,227 (GRCm39)	splice site	probably benign
R9212:Sbsn	UTSW	7	30,452,427 (GRCm39)	missense	probably benign	0.00
R9622:Sbsn	UTSW	7	30,452,067 (GRCm39)	intron	probably benign
R9697:Sbsn	UTSW	7	30,452,391 (GRCm39)	intron	probably benign
Z1088:Sbsn	UTSW	7	30,451,176 (GRCm39)	nonsense	probably null
Z1177:Sbsn	UTSW	7	30,451,755 (GRCm39)	missense	probably benign	0.23
Z1186:Sbsn	UTSW	7	30,452,317 (GRCm39)	missense	probably benign	0.00
Z1186:Sbsn	UTSW	7	30,451,273 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GAGACAAAGTAATTCGTCCCGG -3'
(R):5'- TGGTTGACCCCAGTTTGGAC -3'

Sequencing Primer
(F):5'- AAGTAATTCGTCCCGGGGTCAG -3'
(R):5'- ACCCCAGTTTGGACCCCATG -3'

Posted On

2016-10-05