Mutagenetix > Incidental Mutation

Incidental Mutation 'R8225:Sbsn'

636933

Institutional Source

Beutler Lab

Gene Symbol

Sbsn

Ensembl Gene

ENSMUSG00000046056

Gene Name

suprabasin

Synonyms

1110005D19Rik

MMRRC Submission

067642-MU

Accession Numbers

Essential gene?

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

Stock #

R8225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30450896-30455559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30451869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 295 (F295L)

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

probably benign
Transcript: ENSMUST00000080518
AA Change: F295L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: F295L

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

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: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,865,597 (GRCm39)	N82S	probably benign	Het
Ago3	A	T	4: 126,247,532 (GRCm39)	L595Q	probably damaging	Het
Bpifc	T	C	10: 85,836,431 (GRCm39)	T25A	probably benign	Het
Bsn	T	A	9: 107,984,305 (GRCm39)	T478S		Het
Cacna1d	A	G	14: 29,844,990 (GRCm39)	V720A	probably benign	Het
Cd109	G	T	9: 78,568,972 (GRCm39)	K350N	probably damaging	Het
Cdk6	C	A	5: 3,440,790 (GRCm39)	P115T	probably benign	Het
Clock	T	C	5: 76,389,759 (GRCm39)	N363S	probably damaging	Het
Defa42	T	C	8: 21,946,418 (GRCm39)	D39G	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dock10	T	A	1: 80,481,447 (GRCm39)	K517*	probably null	Het
Dynlt1a	G	T	17: 6,361,628 (GRCm39)	Q71K	probably damaging	Het
Epb41l3	C	T	17: 69,581,796 (GRCm39)	T591I	possibly damaging	Het
Exosc10	G	A	4: 148,649,661 (GRCm39)	V364I	possibly damaging	Het
Fabp3-ps1	A	G	10: 86,568,098 (GRCm39)	I52T	noncoding transcript	Het
Fndc3a	T	C	14: 72,795,117 (GRCm39)	Q766R	probably benign	Het
Gm10608	CACACACACAGA	CA	9: 118,989,776 (GRCm39)		probably null	Het
Gm10645	C	T	8: 83,892,467 (GRCm39)	R80H	unknown	Het
Gpr146	A	T	5: 139,378,371 (GRCm39)	M58L	probably benign	Het
Gzf1	T	A	2: 148,532,764 (GRCm39)	F639L	probably benign	Het
Kars1	T	C	8: 112,729,970 (GRCm39)	I136V	probably benign	Het
Kcnj3	G	A	2: 55,327,726 (GRCm39)	V172M	probably damaging	Het
Kcnk10	A	G	12: 98,406,849 (GRCm39)		probably null	Het
Nagpa	C	A	16: 5,016,724 (GRCm39)	D334Y	probably damaging	Het
Nsun2	T	C	13: 69,760,493 (GRCm39)	I57T	possibly damaging	Het
Or5b107	A	T	19: 13,142,507 (GRCm39)	N43I	probably damaging	Het
Pax8	A	T	2: 24,312,983 (GRCm39)	L432Q	probably damaging	Het
Plxna4	A	G	6: 32,139,038 (GRCm39)	L1710P	probably damaging	Het
Prdm16	A	G	4: 154,439,702 (GRCm39)		probably null	Het
Qrich2	A	G	11: 116,344,894 (GRCm39)	L1721P	probably damaging	Het
Slc4a7	C	T	14: 14,738,224 (GRCm38)	R153*	probably null	Het
Sult6b2	A	T	6: 142,750,055 (GRCm39)	M21K	probably benign	Het
Swt1	A	C	1: 151,297,859 (GRCm39)	S23A	possibly damaging	Het
Synm	A	C	7: 67,408,797 (GRCm39)	S194A	probably benign	Het
Sytl2	G	A	7: 90,024,725 (GRCm39)	A238T	probably benign	Het
Tax1bp1	G	A	6: 52,721,340 (GRCm39)		probably null	Het
Tfr2	G	A	5: 137,569,725 (GRCm39)	A74T	possibly damaging	Het
Tns1	G	A	1: 74,025,046 (GRCm39)	T389I	probably damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Trpm4	A	G	7: 44,954,758 (GRCm39)	C1094R	probably benign	Het
Ube2q2l	A	T	6: 136,378,110 (GRCm39)	L240Q	probably damaging	Het
Uty	T	C	Y: 1,158,634 (GRCm39)	S471G	probably benign	Het
Vipr1	A	T	9: 121,471,915 (GRCm39)	M1L	possibly damaging	Het
Vps13b	A	G	15: 35,794,528 (GRCm39)	R2313G	probably damaging	Het
Xrn1	T	A	9: 95,917,720 (GRCm39)	C1301S	probably benign	Het
Ythdc1	A	T	5: 86,964,796 (GRCm39)	S164C	possibly damaging	Het
Ythdc1	G	T	5: 86,964,797 (GRCm39)	S164I	possibly damaging	Het
Zbtb9	T	A	17: 27,193,759 (GRCm39)	I388N	probably damaging	Het
Zfp521	T	C	18: 13,978,359 (GRCm39)	I685V	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
R5485:Sbsn	UTSW	7	30,452,542 (GRCm39)	missense	possibly damaging	0.46
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	30,451,419 (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'- GTGGCAGACAAGTTAGGTCATG -3'
(R):5'- CCCCTGACCAAACTTGTCTG -3'

Sequencing Primer
(F):5'- GGAACCCACCATGCTTTTGG -3'
(R):5'- AAAAGCATGGTGGGCCCC -3'

Posted On

2020-07-13