Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Spsb2'

45625

Institutional Source

Beutler Lab

Gene Symbol

Spsb2

Ensembl Gene

ENSMUSG00000038451

Gene Name

splA/ryanodine receptor domain and SOCS box containing 2

Synonyms

Grcc9, SSB2

MMRRC Submission

038749-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R0557 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

124785640-124787582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 124787355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 263 (Y263S)

Ref Sequence

ENSEMBL: ENSMUSP00000060124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047510] [ENSMUST00000047760] [ENSMUST00000052727] [ENSMUST00000112473] [ENSMUST00000122110] [ENSMUST00000130160] [ENSMUST00000143040] [ENSMUST00000172132] [ENSMUST00000149610]

AlphaFold

O88838

Predicted Effect

probably benign
Transcript: ENSMUST00000047510

SMART Domains

Protein: ENSMUSP00000041299
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-19	BLAST
ZnF_UBP	198	253	6.47e-27	SMART
low complexity region	497	516	N/A	INTRINSIC
UBA	656	694	3.12e-7	SMART
UBA	724	761	8.63e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000047760
AA Change: Y263S

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

SMART Domains

Protein: ENSMUSP00000041585
Gene: ENSMUSG00000038451
AA Change: Y263S

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART
SOCS	219	264	7.93e-13	SMART
SOCS_box	225	264	8.27e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000052727
AA Change: Y263S

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

SMART Domains

Protein: ENSMUSP00000060124
Gene: ENSMUSG00000038451
AA Change: Y263S

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART
SOCS	219	264	7.93e-13	SMART
SOCS_box	225	264	8.27e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112473

SMART Domains

Protein: ENSMUSP00000108092
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122110

SMART Domains

Protein: ENSMUSP00000114000
Gene: ENSMUSG00000038429

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Blast:ZnF_UBP	29	78	4e-19	BLAST
ZnF_UBP	198	253	6.47e-27	SMART
low complexity region	497	516	N/A	INTRINSIC
UBA	633	671	3.12e-7	SMART
UBA	701	738	8.63e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130160

SMART Domains

Protein: ENSMUSP00000122149
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	208	1.1e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139716

Predicted Effect

probably benign
Transcript: ENSMUST00000143040

SMART Domains

Protein: ENSMUSP00000118347
Gene: ENSMUSG00000038451

Domain	Start	End	E-Value	Type
SPRY	86	220	9.85e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172132

SMART Domains

Protein: ENSMUSP00000130858
Gene: ENSMUSG00000023456

Domain	Start	End	E-Value	Type
Pfam:TIM	57	295	9.2e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149610

SMART Domains

Protein: ENSMUSP00000125292
Gene: ENSMUSG00000023456

Domain	Start	End	E-Value	Type
Pfam:TIM	1	163	1.1e-65	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the SSB family of proteins that contain a central SPRY (repeats in splA and ryanodine receptors) domain and a C-terminal SOCS (suppressor of cytokine signaling) box. The encoded protein is an adaptor protein in the E3 ubiquitin ligase complex that ubiquitinates inducible nitric oxide synthase and targets it for proteasomal degradation. Mice lacking the encoded protein exhibit lower blood urea nitrogen levels and mild thrombocytopenia due to reduced platelet production. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice exhibit mild thrombocytopenia and decreased blood urea nitrogen levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 48,165,977 (GRCm39)	T110A	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mak	A	G	13: 41,193,135 (GRCm39)	Y446H	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Slc27a3	A	G	3: 90,294,163 (GRCm39)	L462P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata18	A	T	5: 73,809,013 (GRCm39)	N29Y	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,410,779 (GRCm39)	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	probably damaging	Het

Other mutations in Spsb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Spsb2	APN	6	124,786,450 (GRCm39)	missense	probably damaging	1.00
BB004:Spsb2	UTSW	6	124,786,336 (GRCm39)	missense	probably benign	0.07
BB014:Spsb2	UTSW	6	124,786,336 (GRCm39)	missense	probably benign	0.07
R1752:Spsb2	UTSW	6	124,787,292 (GRCm39)	missense	probably benign	0.01
R1993:Spsb2	UTSW	6	124,786,329 (GRCm39)	splice site	probably null
R1994:Spsb2	UTSW	6	124,786,329 (GRCm39)	splice site	probably null
R2010:Spsb2	UTSW	6	124,787,339 (GRCm39)	missense	probably damaging	0.98
R3764:Spsb2	UTSW	6	124,786,518 (GRCm39)	missense	probably damaging	1.00
R4914:Spsb2	UTSW	6	124,786,711 (GRCm39)	missense	probably benign	0.00
R4918:Spsb2	UTSW	6	124,786,711 (GRCm39)	missense	probably benign	0.00
R5983:Spsb2	UTSW	6	124,786,711 (GRCm39)	missense	probably benign	0.00
R7107:Spsb2	UTSW	6	124,787,244 (GRCm39)	missense	probably benign
R7732:Spsb2	UTSW	6	124,786,656 (GRCm39)	missense	probably damaging	1.00
R7927:Spsb2	UTSW	6	124,786,336 (GRCm39)	missense	probably benign	0.07
R9047:Spsb2	UTSW	6	124,786,976 (GRCm39)	missense	probably benign
R9418:Spsb2	UTSW	6	124,786,282 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATGCCTGGAGTTGCTTACTTACC -3'
(R):5'- CCAAAGCCCCTGTATTGTGTTTGTG -3'

Sequencing Primer
(F):5'- TGGAGTTGCTTACTTACCTTGTC -3'
(R):5'- TTAAAGTTGTCTAGGCCAGCGG -3'

Posted On

2013-06-11