Mutagenetix > Incidental Mutations

Incidental Mutation 'R1129:Sbsn'

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96479

Institutional Source

Beutler Lab

Gene Symbol

Sbsn

Ensembl Gene

ENSMUSG00000046056

Gene Name

suprabasin

Synonyms

1110005D19Rik

MMRRC Submission

039202-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1129 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30751471-30756134 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30753440 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 627 (P627S)

Ref Sequence

ENSEMBL: ENSMUSP00000079362 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080518
AA Change: P627S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: P627S

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

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	G	C	2: 180,172,919		probably benign	Het
Bub1b	A	T	2: 118,615,006	D269V	probably damaging	Het
Ccdc73	A	G	2: 104,992,190	N828S	possibly damaging	Het
Cdk12	T	C	11: 98,245,375	S1152P	unknown	Het
Cnnm3	T	C	1: 36,513,016	L369P	probably damaging	Het
Cxadr	A	G	16: 78,336,433	K360R	probably benign	Het
Dlg2	G	A	7: 92,431,174		probably null	Het
Dst	T	C	1: 34,199,554	V3779A	probably benign	Het
Fbxo16	G	A	14: 65,295,532	R161K	probably benign	Het
Gm9726	T	A	12: 93,928,526		noncoding transcript	Het
Hectd4	A	G	5: 121,310,599	T337A	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Ints1	A	G	5: 139,758,471	L1510S	probably benign	Het
Kansl2	T	C	15: 98,533,581	Y63C	probably damaging	Het
Lats2	T	C	14: 57,700,333	E233G	possibly damaging	Het
Naca	T	C	10: 128,040,202		probably benign	Het
Pprc1	G	T	19: 46,063,806	A591S	probably benign	Het
Sema6b	T	C	17: 56,124,347	E772G	probably benign	Het
Tmem33	A	G	5: 67,264,460		probably null	Het
Tmtc4	A	G	14: 122,943,153		probably null	Het
Ubqlnl	A	T	7: 104,149,650	H213Q	probably damaging	Het
Ugt1a10	T	C	1: 88,055,609	M43T	probably benign	Het
Vmn2r68	T	C	7: 85,237,504		probably null	Het
Zcchc14	A	G	8: 121,608,415		probably benign	Het

Other mutations in Sbsn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01479:Sbsn	APN	7	30752357	missense	possibly damaging	0.90
IGL02649:Sbsn	APN	7	30753258	missense	probably damaging	0.96
IGL03154:Sbsn	APN	7	30751728	missense	possibly damaging	0.94
PIT4495001:Sbsn	UTSW	7	30752966	intron	probably benign
PIT4687001:Sbsn	UTSW	7	30752966	intron	probably benign
R0427:Sbsn	UTSW	7	30752098	intron	probably benign
R0892:Sbsn	UTSW	7	30754819	missense	possibly damaging	0.46
R1388:Sbsn	UTSW	7	30752151	missense	probably benign	0.09
R1437:Sbsn	UTSW	7	30753053	nonsense	probably null
R2436:Sbsn	UTSW	7	30752230	missense	possibly damaging	0.53
R4020:Sbsn	UTSW	7	30755965	missense	probably damaging	0.98
R5485:Sbsn	UTSW	7	30753117	missense	possibly damaging	0.46
R5890:Sbsn	UTSW	7	30753267	missense	possibly damaging	0.46
R6616:Sbsn	UTSW	7	30753279	missense	possibly damaging	0.92
R6969:Sbsn	UTSW	7	30753191	missense	probably benign
R7302:Sbsn	UTSW	7	30751884	missense	probably benign	0.34
R7455:Sbsn	UTSW	7	30753177	missense	possibly damaging	0.46
R8225:Sbsn	UTSW	7	30751994	intron	probably benign
R8225:Sbsn	UTSW	7	30752444	missense	probably benign	0.00
R8330:Sbsn	UTSW	7	30751941	missense	possibly damaging	0.83
Z1088:Sbsn	UTSW	7	30751751	nonsense	probably null
Z1177:Sbsn	UTSW	7	30752330	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- ACTGGGTTCAACCAGGGTCAAAAG -3'
(R):5'- TGCAGACAAGATGGTCTAAACCAGC -3'

Sequencing Primer
(F):5'- CAACCAGGGTCAAAAGGAAGC -3'
(R):5'- GCTTCCCAAAGGTTTAGCCT -3'

Posted On

2014-01-05