Mutagenetix > Incidental Mutation

Incidental Mutation 'R7302:Sbsn'

567043

Institutional Source

Beutler Lab

Gene Symbol

Sbsn

Ensembl Gene

ENSMUSG00000046056

Gene Name

suprabasin

Synonyms

1110005D19Rik

MMRRC Submission

045406-MU

Accession Numbers

Essential gene?

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

Stock #

R7302 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30450896-30455559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30451309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 108 (F108S)

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: F108S

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: F108S

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 damaging
Transcript: ENSMUST00000182229
AA Change: F108S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138561
Gene: ENSMUSG00000046056
AA Change: F108S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182721
AA Change: F108S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138654
Gene: ENSMUSG00000046056
AA Change: F108S

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	C	T	14: 35,817,306 (GRCm39)	P69S	probably benign	Het
Adam17	A	G	12: 21,405,694 (GRCm39)		probably benign	Het
Bcl7a	T	A	5: 123,482,757 (GRCm39)	M22K	probably benign	Het
C6	T	A	15: 4,826,432 (GRCm39)	C672S	probably damaging	Het
Capn11	C	T	17: 45,954,738 (GRCm39)	R133H	probably damaging	Het
Ccdc102a	A	G	8: 95,640,066 (GRCm39)	L76P	probably damaging	Het
Cfhr4	T	C	1: 139,667,436 (GRCm39)		probably null	Het
Cotl1	T	G	8: 120,537,040 (GRCm39)	I125L	probably benign	Het
Dennd5a	A	T	7: 109,504,906 (GRCm39)	M868K	probably damaging	Het
Depdc5	T	C	5: 33,136,852 (GRCm39)	I1374T	probably damaging	Het
Dhx36	T	C	3: 62,386,814 (GRCm39)	Y646C	probably benign	Het
Ecpas	T	C	4: 58,834,593 (GRCm39)	K762E	probably benign	Het
Egln2	A	G	7: 26,864,310 (GRCm39)	V205A	probably damaging	Het
Eri2	T	A	7: 119,386,009 (GRCm39)	M229L	probably benign	Het
Fancf	C	A	7: 51,511,452 (GRCm39)	R184L	probably damaging	Het
Fancl	A	T	11: 26,353,363 (GRCm39)	E86D	probably damaging	Het
Fignl2	T	C	15: 100,951,259 (GRCm39)	D341G	unknown	Het
Gm14410	A	T	2: 176,885,648 (GRCm39)	H205Q	probably damaging	Het
Haus1	T	C	18: 77,848,666 (GRCm39)	N181D	probably benign	Het
Hmbox1	T	C	14: 65,066,115 (GRCm39)	Y285C	probably damaging	Het
Igkv3-9	A	G	6: 70,565,739 (GRCm39)	M113V	probably benign	Het
Ivd	T	C	2: 118,701,985 (GRCm39)	V139A	probably benign	Het
Limch1	A	T	5: 67,116,942 (GRCm39)	Y119F	probably benign	Het
Lrp1	C	T	10: 127,374,856 (GRCm39)	R4534Q	probably benign	Het
Mbd3l2	G	A	9: 18,355,738 (GRCm39)	S21N	probably benign	Het
Mob1b	A	G	5: 88,901,036 (GRCm39)	N148D	probably benign	Het
Mylk4	A	T	13: 32,904,548 (GRCm39)	D195E	probably benign	Het
Ndufa7	T	C	17: 34,048,687 (GRCm39)	S50P	probably benign	Het
Nectin4	G	T	1: 171,214,203 (GRCm39)	E453*	probably null	Het
Nell1	T	G	7: 50,506,017 (GRCm39)	F741L	probably benign	Het
Ntng1	T	A	3: 109,739,933 (GRCm39)	H369L	possibly damaging	Het
Plin4	T	A	17: 56,409,330 (GRCm39)	M1297L	probably benign	Het
Pnp	G	A	14: 51,188,404 (GRCm39)	V193M	probably damaging	Het
Ppp1r10	T	G	17: 36,241,773 (GRCm39)	S849R	unknown	Het
Rpgrip1	A	G	14: 52,387,012 (GRCm39)	E981G	unknown	Het
Scn11a	A	G	9: 119,636,017 (GRCm39)	M310T	probably benign	Het
Sf3b1	A	G	1: 55,055,949 (GRCm39)	S97P	probably benign	Het
Sgsh	A	G	11: 119,238,525 (GRCm39)	V313A	probably benign	Het
Slc25a10	G	T	11: 120,382,782 (GRCm39)		probably benign	Het
Slc9a2	T	A	1: 40,806,828 (GRCm39)	V705E	possibly damaging	Het
Surf2	G	T	2: 26,808,894 (GRCm39)	C116F	probably damaging	Het
Tnks1bp1	T	C	2: 84,882,698 (GRCm39)	I175T	probably benign	Het
Tnxb	C	T	17: 34,897,875 (GRCm39)	T841I	probably benign	Het
Ttll3	A	G	6: 113,386,246 (GRCm39)	D693G	probably damaging	Het
Ust	A	G	10: 8,393,973 (GRCm39)	L64P	probably damaging	Het
Vmn1r77	C	T	7: 11,775,983 (GRCm39)	S253F	possibly damaging	Het
Vmn2r66	A	G	7: 84,654,423 (GRCm39)	M512T	probably benign	Het
Zfp13	C	T	17: 23,800,036 (GRCm39)	G89D	probably damaging	Het
Zfp616	T	A	11: 73,976,205 (GRCm39)	Y825N	probably benign	Het
Zfp865	A	G	7: 5,032,252 (GRCm39)	Y79C	possibly damaging	Het
Zfyve26	A	T	12: 79,297,942 (GRCm39)	F1916I	probably damaging	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
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'- TCATAGAAGGGTTCAGCCGAG -3'
(R):5'- TGGTGGGTTTCATGACCTAAC -3'

Sequencing Primer
(F):5'- CGAGGGCTGAGCAATGCTG -3'
(R):5'- GGGTTTCATGACCTAACTTGTCTGC -3'

Posted On

2019-06-26