Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Spsb3'

239413

Institutional Source

Beutler Lab

Gene Symbol

Spsb3

Ensembl Gene

ENSMUSG00000024160

Gene Name

splA/ryanodine receptor domain and SOCS box containing 3

Synonyms

SSB3, Tce1, 3300001M01Rik, 2310012N15Rik

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24886643-24892152 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 24890937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024976] [ENSMUST00000024976] [ENSMUST00000043907] [ENSMUST00000044252] [ENSMUST00000068508] [ENSMUST00000117890] [ENSMUST00000119829] [ENSMUST00000119848] [ENSMUST00000120943] [ENSMUST00000121542] [ENSMUST00000130194] [ENSMUST00000168265] [ENSMUST00000146923] [ENSMUST00000154236] [ENSMUST00000144430] [ENSMUST00000139754]

AlphaFold

Q571F5

Predicted Effect

probably null
Transcript: ENSMUST00000024976

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
Pfam:SPRY	181	304	5.7e-18	PFAM
SOCS_box	309	347	2.8e0	SMART
low complexity region	364	373	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000024976

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
Pfam:SPRY	181	304	5.7e-18	PFAM
SOCS_box	309	347	2.8e0	SMART
low complexity region	364	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043907

SMART Domains

Protein: ENSMUSP00000045111
Gene: ENSMUSG00000038880

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
Pfam:MRP-S34	61	187	5.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044252

SMART Domains

Protein: ENSMUSP00000049319
Gene: ENSMUSG00000039183

Domain	Start	End	E-Value	Type
Pfam:ParA	16	267	3.2e-99	PFAM
Pfam:ArsA_ATPase	19	66	1.7e-8	PFAM
Pfam:AAA_31	19	79	1.5e-8	PFAM
Pfam:MipZ	19	155	2.1e-10	PFAM
Pfam:CbiA	21	199	2.2e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000068508

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	252	1.3e-13	PFAM
low complexity region	295	308	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117890

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000119829

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	294	6.9e-16	PFAM
SOCS_box	299	337	2.8e0	SMART
low complexity region	354	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119848

SMART Domains

Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	8.51e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000120943

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121542

SMART Domains

Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	1.4e-23	SMART
low complexity region	366	373	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128953

Predicted Effect

probably benign
Transcript: ENSMUST00000130194

SMART Domains

Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000168265

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
low complexity region	184	195	N/A	INTRINSIC
low complexity region	244	255	N/A	INTRINSIC
Pfam:SPRY	294	416	5.8e-20	PFAM
SOCS_box	420	458	2.8e0	SMART
low complexity region	475	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138648

Predicted Effect

probably benign
Transcript: ENSMUST00000146923

SMART Domains

Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154236

SMART Domains

Protein: ENSMUSP00000120985
Gene: ENSMUSG00000038880

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
low complexity region	59	79	N/A	INTRINSIC
Blast:NDK	172	208	3e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000144430

SMART Domains

Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139754

SMART Domains

Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	T	C	8: 3,387,680	S268P	possibly damaging	Het
Adam18	A	G	8: 24,628,155	S34P	probably damaging	Het
Adam23	T	A	1: 63,573,129		probably benign	Het
Adcy10	A	T	1: 165,518,212	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,592,245	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,881,640	M242K	possibly damaging	Het
Astn1	A	G	1: 158,657,306	R4G	probably benign	Het
AU041133	G	A	10: 82,150,921	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,301,854	V53A	probably benign	Het
Cdh23	T	C	10: 60,466,004	D428G	possibly damaging	Het
Cebpa	T	C	7: 35,120,466	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,280	M152V	probably null	Het
Cpa4	A	G	6: 30,583,650	N255S	possibly damaging	Het
Ddx51	T	A	5: 110,655,768	D343E	probably damaging	Het
Dnah7a	T	C	1: 53,479,773	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,392,475	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Edem3	A	G	1: 151,804,702	D526G	possibly damaging	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Etaa1	G	A	11: 17,952,686	Q84*	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam149a	G	A	8: 45,341,009	T674I	probably damaging	Het
Fam98a	A	G	17: 75,538,945		probably null	Het
Fat4	A	G	3: 38,891,527	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,867,535	T529A	probably damaging	Het
Gzf1	C	T	2: 148,684,950	A447V	probably damaging	Het
Hap1	G	A	11: 100,354,724	T138M	probably benign	Het
Hic1	T	A	11: 75,169,384	R46W	possibly damaging	Het
Id4	T	A	13: 48,261,802	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029	C271R	probably benign	Het
Ints4	T	C	7: 97,509,750	I443T	possibly damaging	Het
Lmln	A	G	16: 33,109,778	E535G	probably benign	Het
Lrrtm4	A	G	6: 80,022,640	H345R	probably benign	Het
Ltbp3	T	C	19: 5,753,962	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mpp5	A	T	12: 78,797,248	K75N	possibly damaging	Het
Ms4a18	C	A	19: 10,997,305	V341L	probably benign	Het
Nbr1	T	C	11: 101,567,264		probably null	Het
Nf1	T	C	11: 79,444,064	M914T	probably benign	Het
Notch3	T	A	17: 32,147,978	H861L	probably benign	Het
Nupl1	A	G	14: 60,232,640	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,112,780		probably null	Het
Oit3	T	C	10: 59,428,070	D414G	probably damaging	Het
Olfr1079	T	C	2: 86,538,513	Y132C	probably damaging	Het
Olfr1497	T	A	19: 13,795,369	M81L	probably benign	Het
Olfr787	A	T	10: 129,462,940	K88M	probably damaging	Het
Olfr804	A	G	10: 129,705,451	H191R	probably benign	Het
Pcbp4	C	A	9: 106,460,734	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,378,850	D241E	probably damaging	Het
Plcb2	T	C	2: 118,723,534	D102G	probably benign	Het
Plekha5	G	A	6: 140,525,861	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,474,259	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,207,142	S585L	probably benign	Het
Rarg	T	C	15: 102,239,524	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,916,380	L278F	probably damaging	Het
Rp1	A	C	1: 4,348,139	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,579,904		probably benign	Het
Rsph3b	T	C	17: 6,941,740	S189G	probably benign	Het
Sec31b	A	T	19: 44,523,150	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,124,741	I641F	probably benign	Het
Slc35f5	A	T	1: 125,579,264	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,686,029	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,035,939	S432P	probably benign	Het
Sptbn4	T	C	7: 27,367,609	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,853,740	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,414,918	C307*	probably null	Het
Trim43b	T	A	9: 89,085,249	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,594,754	I11T	probably benign	Het
Ylpm1	A	T	12: 85,044,378	R1073*	probably null	Het
Zfp524	T	C	7: 5,017,919	S149P	probably damaging	Het
Zfp777	T	C	6: 48,043,885	I312V	possibly damaging	Het

Other mutations in Spsb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Spsb3	APN	17	24890565	splice site	probably benign
IGL03225:Spsb3	APN	17	24891071	missense	possibly damaging	0.90
R0071:Spsb3	UTSW	17	24887904	missense	probably damaging	1.00
R0071:Spsb3	UTSW	17	24887904	missense	probably damaging	1.00
R0924:Spsb3	UTSW	17	24891384	missense	probably damaging	0.98
R1291:Spsb3	UTSW	17	24887808	splice site	probably null
R2378:Spsb3	UTSW	17	24886950	unclassified	probably benign
R4512:Spsb3	UTSW	17	24890296	missense	probably damaging	0.97
R4950:Spsb3	UTSW	17	24887511	intron	probably benign
R5020:Spsb3	UTSW	17	24887062	unclassified	probably benign
R5155:Spsb3	UTSW	17	24886995	unclassified	probably benign
R6444:Spsb3	UTSW	17	24891576	missense	probably damaging	1.00
R8954:Spsb3	UTSW	17	24891519	missense	probably damaging	0.99
R9029:Spsb3	UTSW	17	24891532	missense	unknown
R9667:Spsb3	UTSW	17	24886810	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAAATCAAGATGACCTCTCCAG -3'
(R):5'- AGAATGTCAGTGTCCCATGCC -3'

Sequencing Primer
(F):5'- CAAGATGACCTCTCCAGTGTATG -3'
(R):5'- ATGCCAGGTGTCCAAGTG -3'

Posted On

2014-10-15