Mutagenetix > Incidental Mutation

Incidental Mutation 'R3758:Spsb4'

271527

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

040739-MU

Accession Numbers

Essential gene?

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

Stock #

R3758 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

96825535-96900408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96877924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 133 (V133A)

Ref Sequence

ENSEMBL: ENSMUSP00000057849 (fasta)

Gene Model

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

AlphaFold

Q8R5B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000055433
AA Change: V133A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057849
Gene: ENSMUSG00000046997
AA Change: V133A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000064445

Meta Mutation Damage Score

0.4474

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

93% (28/30)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,146,354 (GRCm39)		probably benign	Het
Bcat1	T	A	6: 144,978,598 (GRCm39)	I208F	probably damaging	Het
Cage1	A	C	13: 38,209,705 (GRCm39)	F91V	possibly damaging	Het
Cd200r3	T	G	16: 44,784,991 (GRCm39)		probably null	Het
Coq8b	C	T	7: 26,941,652 (GRCm39)	Q246*	probably null	Het
Dmxl1	G	A	18: 50,068,384 (GRCm39)	G2719D	probably damaging	Het
Fbln2	T	C	6: 91,233,363 (GRCm39)	S616P	probably damaging	Het
Fkbp10	G	A	11: 100,313,451 (GRCm39)		probably null	Het
Gabra1	G	T	11: 42,066,763 (GRCm39)	D50E	probably benign	Het
H1f4	T	A	13: 23,806,240 (GRCm39)	K81*	probably null	Het
Hmgcs2	A	G	3: 98,198,406 (GRCm39)	N103S	probably damaging	Het
Htt	A	G	5: 35,053,314 (GRCm39)	H2549R	probably damaging	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrrc7	T	C	3: 157,869,602 (GRCm39)	N706D	probably damaging	Het
Mill1	G	A	7: 17,996,628 (GRCm39)		probably null	Het
Mtcl2	T	C	2: 156,862,558 (GRCm39)	N1457S	possibly damaging	Het
Nipa2	T	C	7: 55,585,689 (GRCm39)	Y102C	probably damaging	Het
Nmd3	T	A	3: 69,631,641 (GRCm39)	C32*	probably null	Het
Or11h6	A	G	14: 50,880,493 (GRCm39)	K252E	possibly damaging	Het
Or4a78	A	G	2: 89,497,916 (GRCm39)	F105L	probably benign	Het
Or52r1b	A	G	7: 102,691,177 (GRCm39)	S159G	probably benign	Het
Or6c207	T	C	10: 129,104,934 (GRCm39)	D86G	probably damaging	Het
Pcdhb7	A	G	18: 37,476,079 (GRCm39)	D405G	possibly damaging	Het
Ptprt	A	T	2: 161,653,950 (GRCm39)	L560Q	probably damaging	Het
Serpinb9b	A	G	13: 33,219,571 (GRCm39)	Y166C	probably damaging	Het
Sprr1a	T	G	3: 92,391,704 (GRCm39)	K99T	probably damaging	Het
Suz12	A	G	11: 79,915,768 (GRCm39)	T391A	probably benign	Het
Tor1aip2	A	G	1: 155,941,035 (GRCm39)	E447G	probably damaging	Het
Ube4a	G	A	9: 44,861,198 (GRCm39)		probably benign	Het
Wdfy4	A	C	14: 32,745,331 (GRCm39)	H2296Q	probably benign	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
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
R8495:Spsb4	UTSW	9	96,877,622 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATCCACGATGAAGCTGAG -3'
(R):5'- GCTCCCTCAATGTCTTTGTCAAGG -3'

Sequencing Primer
(F):5'- ATGAAGCTGAGCGTGCC -3'
(R):5'- TCAAGGATGACGACCGCCTC -3'

Posted On

2015-03-18