Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03225:Spsb3'

413761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spsb3

Ensembl Gene

ENSMUSG00000024160

Gene Name

splA/ryanodine receptor domain and SOCS box containing 3

Synonyms

3300001M01Rik, SSB3, 2310012N15Rik, Tce1

Accession Numbers

Essential gene?

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

Stock #

IGL03225

Quality Score

Status

Chromosome

Chromosomal Location

25105617-25111126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25110045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 365 (I365T)

Ref Sequence

ENSEMBL: ENSMUSP00000126878 (fasta)

Gene Model

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

AlphaFold

Q571F5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024976
AA Change: I254T

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160
AA Change: I254T

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

possibly damaging
Transcript: ENSMUST00000068508
AA Change: I219T

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160
AA Change: I219T

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

possibly damaging
Transcript: ENSMUST00000117890
AA Change: I219T

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160
AA Change: I219T

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: ENSMUST00000119829
AA Change: I244T

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160
AA Change: I244T

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

possibly damaging
Transcript: ENSMUST00000120943
AA Change: I219T

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160
AA Change: I219T

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

noncoding transcript
Transcript: ENSMUST00000156659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128953

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: 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 benign
Transcript: ENSMUST00000139754

SMART Domains

Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436

Domain	Start	End	E-Value	Type
low complexity region	13	24	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: 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

possibly damaging
Transcript: ENSMUST00000168265
AA Change: I365T

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160
AA Change: I365T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,249,668 (GRCm39)	K234R	probably benign	Het
Adam21	T	C	12: 81,606,043 (GRCm39)	E573G	probably benign	Het
Aox4	A	T	1: 58,286,386 (GRCm39)	I673F	possibly damaging	Het
Arfgef1	A	T	1: 10,224,543 (GRCm39)	I1431N	probably damaging	Het
Cask	A	G	X: 13,531,760 (GRCm39)	M103V	possibly damaging	Het
Clba1	T	C	12: 112,779,211 (GRCm39)	Y283H	probably damaging	Het
Fam83h	T	C	15: 75,875,150 (GRCm39)	E729G	probably damaging	Het
Gnb4	T	C	3: 32,641,881 (GRCm39)	T249A	probably damaging	Het
Gpr12	A	G	5: 146,520,761 (GRCm39)	S54P	probably damaging	Het
Krt20	A	G	11: 99,322,756 (GRCm39)	V293A	probably damaging	Het
Lonrf1	A	G	8: 36,689,855 (GRCm39)	V706A	probably damaging	Het
Lrrc58	T	G	16: 37,701,632 (GRCm39)	C303W	probably damaging	Het
Mbnl2	A	G	14: 120,622,875 (GRCm39)	T138A	probably benign	Het
Mss51	G	A	14: 20,537,205 (GRCm39)	R88*	probably null	Het
Nup214	T	A	2: 31,924,423 (GRCm39)	S146T	probably damaging	Het
Otop2	G	A	11: 115,220,633 (GRCm39)	R491H	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prkcz	A	T	4: 155,352,652 (GRCm39)	F492I	probably damaging	Het
Sgtb	T	C	13: 104,268,453 (GRCm39)	L163P	probably damaging	Het
Tmem273	A	G	14: 32,527,133 (GRCm39)	I33M	probably damaging	Het
Trio	T	C	15: 27,902,781 (GRCm39)	I227V	probably benign	Het
Vdac1	G	A	11: 52,267,482 (GRCm39)	R93H	probably benign	Het
Wasf2	A	G	4: 132,903,857 (GRCm39)	T22A	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
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
R1291:Spsb3	UTSW	17	25,106,782 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02