Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Spsb4'

250981

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

040409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96825535-96900408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96877840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 161 (Y161C)

Ref Sequence

ENSEMBL: ENSMUSP00000057849 (fasta)

Gene Model

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

AlphaFold

Q8R5B6

Predicted Effect

probably damaging
Transcript: ENSMUST00000055433
AA Change: Y161C

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

SMART Domains

Protein: ENSMUSP00000057849
Gene: ENSMUSG00000046997
AA Change: Y161C

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

0.9219

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,536,109 (GRCm39)	F125S	unknown	Het
Abhd17c	C	T	7: 83,759,884 (GRCm39)	W290*	probably null	Het
Acsl5	A	T	19: 55,282,031 (GRCm39)	K536*	probably null	Het
Adamts14	A	T	10: 61,034,749 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,823,699 (GRCm39)	H788R	probably damaging	Het
Agrp	T	C	8: 106,293,408 (GRCm39)	N126D	possibly damaging	Het
Ambn	T	C	5: 88,615,663 (GRCm39)	I349T	probably benign	Het
Ank1	T	C	8: 23,622,280 (GRCm39)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,227,567 (GRCm39)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Bcl11b	G	A	12: 107,881,706 (GRCm39)	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,949,689 (GRCm39)	M426L	probably damaging	Het
Cep95	A	G	11: 106,700,108 (GRCm39)	K290E	possibly damaging	Het
Cic	A	G	7: 24,991,201 (GRCm39)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm39)	M389K	probably damaging	Het
Cnksr1	A	T	4: 133,959,473 (GRCm39)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,213,749 (GRCm39)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,403,441 (GRCm39)		probably null	Het
Dido1	A	G	2: 180,331,181 (GRCm39)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,645,040 (GRCm39)	I999F	probably damaging	Het
Dsp	T	A	13: 38,377,453 (GRCm39)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,238,454 (GRCm39)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm39)	F887L	probably benign	Het
Gm21961	T	A	15: 64,886,722 (GRCm39)	H11L	unknown	Het
Gm4559	A	T	7: 141,827,557 (GRCm39)	C182S	unknown	Het
Golga3	T	A	5: 110,355,462 (GRCm39)	S939T	probably damaging	Het
Got2	A	G	8: 96,614,918 (GRCm39)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,369,307 (GRCm39)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,475,610 (GRCm39)	T39S	probably benign	Het
Grin2b	T	C	6: 135,710,180 (GRCm39)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,193,205 (GRCm39)	N538T	probably damaging	Het
Helz2	A	G	2: 180,874,705 (GRCm39)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,586,757 (GRCm39)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,038,242 (GRCm39)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,507,776 (GRCm39)		probably benign	Het
Mmp19	A	G	10: 128,626,819 (GRCm39)		probably benign	Het
Msc	T	G	1: 14,825,473 (GRCm39)	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,437,554 (GRCm39)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,023,421 (GRCm39)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm39)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,746,616 (GRCm39)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,247,105 (GRCm39)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,351,074 (GRCm39)		probably benign	Het
Ralgapa2	G	T	2: 146,203,320 (GRCm39)	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 179,920,895 (GRCm39)	K496N	probably null	Het
Rbm26	T	C	14: 105,388,748 (GRCm39)		probably benign	Het
Rfx6	A	C	10: 51,602,771 (GRCm39)		probably benign	Het
Rras	G	A	7: 44,667,488 (GRCm39)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,108,459 (GRCm39)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,306,822 (GRCm39)	K316E	probably damaging	Het
Slco1a7	C	A	6: 141,711,503 (GRCm39)	M69I	probably benign	Het
Spata31d1a	A	G	13: 59,849,807 (GRCm39)	S774P	possibly damaging	Het
Taf3	G	T	2: 9,957,644 (GRCm39)	N174K	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trnt1	T	A	6: 106,750,330 (GRCm39)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,441,441 (GRCm39)	C415*	probably null	Het
Ucn2	C	T	9: 108,815,477 (GRCm39)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 109,143,961 (GRCm39)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,685,222 (GRCm39)	F337L	probably null	Het
Zfp287	A	T	11: 62,605,459 (GRCm39)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,101,921 (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
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
R8495:Spsb4	UTSW	9	96,877,622 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGTGACTTCGCAGTGAC -3'
(R):5'- TCCCTCAATGTCTTTGTCAAGG -3'

Sequencing Primer
(F):5'- TGACTTCGCAGTGACCCCAC -3'
(R):5'- AGCACAGATGGCATCCGTG -3'

Posted On

2014-12-04