Mutagenetix > Incidental Mutation

Incidental Mutation 'R1291:Spsb3'

150798

Institutional Source

Beutler Lab

Gene Symbol

Spsb3

Ensembl Gene

ENSMUSG00000024160

Gene Name

splA/ryanodine receptor domain and SOCS box containing 3

Synonyms

3300001M01Rik, SSB3, 2310012N15Rik, Tce1

MMRRC Submission

039357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25105617-25111126 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 25106782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000049319 (fasta)

Gene Model

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

AlphaFold

Q571F5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024976
AA Change: R41L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160
AA Change: R41L

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: 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 damaging
Transcript: ENSMUST00000068508
AA Change: R6L

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

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160
AA Change: R6L

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 damaging
Transcript: ENSMUST00000117890
AA Change: R6L

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

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160
AA Change: R6L

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 damaging
Transcript: ENSMUST00000119829
AA Change: R6L

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

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160
AA Change: R6L

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 damaging
Transcript: ENSMUST00000120943
AA Change: R6L

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

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160
AA Change: R6L

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

possibly damaging
Transcript: ENSMUST00000168265
AA Change: R152L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160
AA Change: R152L

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

probably damaging
Transcript: ENSMUST00000130194
AA Change: R6L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160
AA Change: R6L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156659

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

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: 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: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	C	A	5: 30,404,532 (GRCm39)	L301F	probably damaging	Het
Apba1	G	T	19: 23,895,036 (GRCm39)	A491S	probably damaging	Het
Bmp5	A	T	9: 75,793,955 (GRCm39)	K355*	probably null	Het
Chdh	C	T	14: 29,753,519 (GRCm39)	R143*	probably null	Het
Evc2	A	G	5: 37,544,159 (GRCm39)	E636G	probably damaging	Het
Hmcn1	T	A	1: 150,623,942 (GRCm39)	I1120F	probably damaging	Het
Lama4	A	T	10: 38,924,065 (GRCm39)	H491L	probably benign	Het
Lrp1b	A	T	2: 41,231,907 (GRCm39)	S1074T	probably benign	Het
Nell1	T	C	7: 49,879,998 (GRCm39)	V330A	probably benign	Het
Psg20	T	C	7: 18,418,599 (GRCm39)	D56G	possibly damaging	Het
Ptk2	C	T	15: 73,082,605 (GRCm39)	V951I	probably damaging	Het
Qrfprl	T	A	6: 65,429,884 (GRCm39)	Y193*	probably null	Het
Rps23rg1	T	C	8: 3,633,938 (GRCm39)	I13T	probably damaging	Het
Rtel1	A	G	2: 180,992,836 (GRCm39)	D632G	probably damaging	Het
Smoc1	T	C	12: 81,226,365 (GRCm39)	F397L	probably damaging	Het
Srp68	A	T	11: 116,154,107 (GRCm39)	L154H	probably damaging	Het
Timp3	A	G	10: 86,181,702 (GRCm39)	Y191C	probably damaging	Het
Vmn2r50	T	C	7: 9,771,404 (GRCm39)	T766A	probably damaging	Het
Ythdc2	C	T	18: 44,988,276 (GRCm39)	S28F	probably benign	Het
Ywhaz	T	C	15: 36,772,978 (GRCm39)		probably benign	Het

Other mutations in Spsb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Spsb3	APN	17	25,109,539 (GRCm39)	splice site	probably benign
IGL03225:Spsb3	APN	17	25,110,045 (GRCm39)	missense	possibly damaging	0.90
R0071:Spsb3	UTSW	17	25,106,878 (GRCm39)	missense	probably damaging	1.00
R0071:Spsb3	UTSW	17	25,106,878 (GRCm39)	missense	probably damaging	1.00
R0924:Spsb3	UTSW	17	25,110,358 (GRCm39)	missense	probably damaging	0.98
R2211:Spsb3	UTSW	17	25,109,911 (GRCm39)	critical splice donor site	probably null
R2378:Spsb3	UTSW	17	25,105,924 (GRCm39)	unclassified	probably benign
R4512:Spsb3	UTSW	17	25,109,270 (GRCm39)	missense	probably damaging	0.97
R4950:Spsb3	UTSW	17	25,106,485 (GRCm39)	intron	probably benign
R5020:Spsb3	UTSW	17	25,106,036 (GRCm39)	unclassified	probably benign
R5155:Spsb3	UTSW	17	25,105,969 (GRCm39)	unclassified	probably benign
R6444:Spsb3	UTSW	17	25,110,550 (GRCm39)	missense	probably damaging	1.00
R8954:Spsb3	UTSW	17	25,110,493 (GRCm39)	missense	probably damaging	0.99
R9029:Spsb3	UTSW	17	25,110,506 (GRCm39)	missense	unknown
R9667:Spsb3	UTSW	17	25,105,784 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGATGCCATTTGCCAAAGTGGAC -3'
(R):5'- AGACACTGGTTATCCCCACCTTGC -3'

Sequencing Primer
(F):5'- cgcggaggaggagcaag -3'
(R):5'- GCCACTTCGACCTACCTG -3'

Posted On

2014-01-29