Mutagenetix > Incidental Mutation

Incidental Mutation 'R8495:Spsb4'

668190

Institutional Source

Beutler Lab

Gene Symbol

Spsb4

Ensembl Gene

ENSMUSG00000046997

Gene Name

splA/ryanodine receptor domain and SOCS box containing 4

Synonyms

D030068E18Rik, Ssb4

MMRRC Submission

067937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R8495 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96825535-96900408 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 96877622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057849 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055433]

AlphaFold

Q8R5B6

Predicted Effect

probably null
Transcript: ENSMUST00000055433

SMART Domains

Protein: ENSMUSP00000057849
Gene: ENSMUSG00000046997

Domain	Start	End	E-Value	Type
SPRY	95	230	5.67e-19	SMART
SOCS_box	234	273	3.41e-13	SMART

Coding Region Coverage

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

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	A	G	5: 48,536,699 (GRCm39)	T132A	possibly damaging	Het
Abcb1b	T	G	5: 8,915,865 (GRCm39)	V1249G	probably damaging	Het
Cdc5l	A	G	17: 45,737,449 (GRCm39)	L103P	probably damaging	Het
Clrn2	G	T	5: 45,617,485 (GRCm39)	A119S	possibly damaging	Het
Cop1	A	T	1: 159,077,600 (GRCm39)	H145L	probably benign	Het
Cyp4f13	G	C	17: 33,143,833 (GRCm39)	P497R	probably damaging	Het
Dennd4a	A	G	9: 64,794,161 (GRCm39)	E660G	probably damaging	Het
Dhx34	T	C	7: 15,952,472 (GRCm39)	Y51C	probably benign	Het
Dnah5	A	G	15: 28,409,414 (GRCm39)	I3611V	probably damaging	Het
Dock2	A	T	11: 34,181,622 (GRCm39)	L1647Q	probably benign	Het
Dpy19l4	G	A	4: 11,267,659 (GRCm39)	T427M	probably benign	Het
Eef2k	T	C	7: 120,487,103 (GRCm39)	L417P	probably benign	Het
Eng	A	G	2: 32,568,906 (GRCm39)	S477G	probably benign	Het
Enox1	T	C	14: 77,870,012 (GRCm39)	I424T	probably benign	Het
Faim2	A	G	15: 99,408,473 (GRCm39)	V253A	probably benign	Het
Farp2	A	G	1: 93,531,139 (GRCm39)	I546V	possibly damaging	Het
Fcgbp	T	G	7: 27,785,978 (GRCm39)	Y472D	probably damaging	Het
Gm43302	A	T	5: 105,424,570 (GRCm39)	C357S	possibly damaging	Het
Gm47189	T	C	14: 41,492,053 (GRCm39)	T75A	probably damaging	Het
Mms22l	A	G	4: 24,496,908 (GRCm39)	M1V	probably null	Het
Myo3a	A	T	2: 22,401,084 (GRCm39)	I618F	probably damaging	Het
Nqo2	T	C	13: 34,165,477 (GRCm39)	F125L	probably damaging	Het
Or10q1	T	A	19: 13,726,593 (GRCm39)	M41K	possibly damaging	Het
Pdcd6ip	G	A	9: 113,518,775 (GRCm39)	H162Y	probably benign	Het
Potefam1	C	T	2: 111,059,755 (GRCm39)	M1I	probably null	Het
Potegl	A	G	2: 23,097,852 (GRCm39)	E10G	probably benign	Het
Rad9b	T	C	5: 122,471,096 (GRCm39)		probably null	Het
Robo3	A	G	9: 37,336,664 (GRCm39)	F368S	probably damaging	Het
Rsph4a	G	A	10: 33,781,488 (GRCm39)	A113T	probably benign	Het
Smc2	A	T	4: 52,450,992 (GRCm39)	N270I	probably benign	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,043,051 (GRCm39)	R1399Q	probably benign	Het
Stab1	T	C	14: 30,877,790 (GRCm39)	D749G	probably damaging	Het
Tas2r115	A	T	6: 132,714,887 (GRCm39)	N21K	probably damaging	Het
Tbkbp1	A	G	11: 97,037,429 (GRCm39)	V221A	probably benign	Het
Tln2	G	T	9: 67,261,749 (GRCm39)	N663K	probably benign	Het
Tmprss11g	A	T	5: 86,640,119 (GRCm39)	I170K	probably benign	Het
Tnfrsf21	G	A	17: 43,349,128 (GRCm39)	E247K	probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Vmn1r204	G	A	13: 22,740,879 (GRCm39)	C170Y	probably damaging	Het
Vwa8	G	T	14: 79,174,617 (GRCm39)	E349*	probably null	Het
Xpo7	A	G	14: 70,907,989 (GRCm39)		probably null	Het

Other mutations in Spsb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:Spsb4	APN	9	96,826,646 (GRCm39)	missense	probably benign	0.01
IGL01582:Spsb4	APN	9	96,878,143 (GRCm39)	missense	probably damaging	1.00
R0320:Spsb4	UTSW	9	96,878,161 (GRCm39)	missense	probably damaging	1.00
R1664:Spsb4	UTSW	9	96,878,266 (GRCm39)	missense	possibly damaging	0.88
R2495:Spsb4	UTSW	9	96,877,840 (GRCm39)	missense	probably damaging	1.00
R2872:Spsb4	UTSW	9	96,878,071 (GRCm39)	missense	probably damaging	1.00
R2872:Spsb4	UTSW	9	96,878,071 (GRCm39)	missense	probably damaging	1.00
R2874:Spsb4	UTSW	9	96,878,071 (GRCm39)	missense	probably damaging	1.00
R3758:Spsb4	UTSW	9	96,877,924 (GRCm39)	missense	probably damaging	1.00
R4604:Spsb4	UTSW	9	96,877,931 (GRCm39)	missense	probably benign	0.00
R4678:Spsb4	UTSW	9	96,877,744 (GRCm39)	missense	probably damaging	0.98
R5532:Spsb4	UTSW	9	96,877,627 (GRCm39)	critical splice donor site	probably null
R6157:Spsb4	UTSW	9	96,878,160 (GRCm39)	missense	probably damaging	1.00
R6368:Spsb4	UTSW	9	96,826,698 (GRCm39)	missense	probably benign	0.01
R7787:Spsb4	UTSW	9	96,877,643 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGAGCCGTTATCAAAGTGCC -3'
(R):5'- TTGGTCGTACTGGACATGGAC -3'

Sequencing Primer
(F):5'- GGTTATGACCATCATGCCACTTGTAG -3'
(R):5'- TACTGGACATGGACGAGGGC -3'

Posted On

2021-04-05