Mutagenetix > Incidental Mutation

Incidental Mutation 'R9212:Sbsn'

698942

Institutional Source

Beutler Lab

Gene Symbol

Sbsn

Ensembl Gene

ENSMUSG00000046056

Gene Name

suprabasin

Synonyms

1110005D19Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30450896-30455559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30452427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 481 (N481D)

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: N481D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: N481D

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

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Actn3	T	C	19: 4,914,565 (GRCm39)	D521G	probably benign	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Asb18	T	C	1: 89,880,447 (GRCm39)	T453A	probably benign	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cdh24	T	A	14: 54,878,679 (GRCm39)		probably benign	Het
Cfap57	T	A	4: 118,436,649 (GRCm39)	I916F	possibly damaging	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cit	A	T	5: 116,013,952 (GRCm39)	I222F	possibly damaging	Het
Clip1	T	A	5: 123,721,399 (GRCm39)	K1165N	probably damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnah14	G	A	1: 181,628,852 (GRCm39)	V4123M	possibly damaging	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fzd6	A	G	15: 38,898,289 (GRCm39)	H543R	probably damaging	Het
Gad2	T	A	2: 22,571,399 (GRCm39)	C446S	probably damaging	Het
Gm29106	A	G	1: 118,127,270 (GRCm39)	R321G	probably damaging	Het
Gon4l	T	C	3: 88,803,730 (GRCm39)	V1447A	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Kifap3	C	T	1: 163,610,600 (GRCm39)	L27F	probably damaging	Het
Lancl2	A	C	6: 57,714,673 (GRCm39)	I431L	probably benign	Het
Ltbp2	G	A	12: 84,839,824 (GRCm39)	P1069S	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Nppc	G	T	1: 86,597,619 (GRCm39)	Q50K	possibly damaging	Het
Or2a51	T	A	6: 43,178,756 (GRCm39)	Y59*	probably null	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Papolg	T	C	11: 23,823,817 (GRCm39)	T334A	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rnf17	T	C	14: 56,761,785 (GRCm39)	V1616A	probably damaging	Het
Rph3a	T	A	5: 121,086,005 (GRCm39)	H477L	possibly damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Sf3a3	G	A	4: 124,621,921 (GRCm39)	E354K	possibly damaging	Het
Slc15a2	A	C	16: 36,602,053 (GRCm39)	Y81*	probably null	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Spata31h1	T	C	10: 82,118,979 (GRCm39)	N4677S	possibly damaging	Het
Stxbp2	G	C	8: 3,686,220 (GRCm39)	K313N		Het
Tbc1d2b	A	T	9: 90,087,183 (GRCm39)	L932Q	possibly damaging	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Tubgcp3	A	G	8: 12,691,200 (GRCm39)	V446A	possibly damaging	Het
Unc93b1	G	A	19: 3,993,557 (GRCm39)	R333Q	probably damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Wdr62	G	A	7: 29,942,563 (GRCm39)	S1015L	probably damaging	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp974	A	G	7: 27,610,052 (GRCm39)	S558P	possibly damaging	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	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	30,451,869 (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
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'- CAGTTTGGTCATGGTCACGG -3'
(R):5'- GTTGAACCCAGTTTGGACCC -3'

Sequencing Primer
(F):5'- TCATGGTCACGGGCATGG -3'
(R):5'- AACCCAGTTTGGACCCCTTGG -3'

Posted On

2022-02-07