Mutagenetix > Incidental Mutation

Incidental Mutation 'R0924:Spsb3'

83117

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

039071-MU

Accession Numbers

Essential gene?

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

Stock #

R0924 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25105617-25111126 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25110358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 395 (N395I)

Ref Sequence

ENSEMBL: ENSMUSP00000126878 (fasta)

Gene Model

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

AlphaFold

Q571F5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024976
AA Change: N284I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160
AA Change: N284I

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: ENSMUST00000068508
AA Change: K267N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160
AA Change: K267N

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: N249I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160
AA Change: N249I

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: N274I

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160
AA Change: N274I

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: N249I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160
AA Change: N249I

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: ENSMUST00000168265
AA Change: N395I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160
AA Change: N395I

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: ENSMUST00000138648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134932

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: 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: 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: 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: 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

Meta Mutation Damage Score

0.2914

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ajap1	T	A	4: 153,470,929 (GRCm39)	I293F	probably damaging	Het
Akap10	T	C	11: 61,795,689 (GRCm39)		probably benign	Het
Aldh3b2	T	C	19: 4,029,350 (GRCm39)	V241A	probably benign	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Atpaf1	T	A	4: 115,652,635 (GRCm39)	V12D	probably damaging	Het
Aurkb	C	A	11: 68,936,822 (GRCm39)	Y12*	probably null	Het
Bicdl1	A	G	5: 115,799,587 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,628,156 (GRCm39)		probably benign	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Ccrl2	A	G	9: 110,885,036 (GRCm39)	V154A	probably benign	Het
Celsr3	C	A	9: 108,723,224 (GRCm39)	Q2831K	possibly damaging	Het
Cplane1	T	C	15: 8,280,554 (GRCm39)		probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Cwf19l2	T	C	9: 3,441,047 (GRCm39)		probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Dnah2	T	C	11: 69,312,134 (GRCm39)	H4393R	probably damaging	Het
Eif2b3	T	A	4: 116,938,775 (GRCm39)	V408D	possibly damaging	Het
Eml3	T	C	19: 8,910,675 (GRCm39)		probably null	Het
Enpp2	T	C	15: 54,770,355 (GRCm39)		probably benign	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Gm14178	T	A	11: 99,638,326 (GRCm39)	T18S		Het
H2bc12	G	A	13: 22,220,210 (GRCm39)	D52N	probably damaging	Het
H2-M11	A	G	17: 36,860,106 (GRCm39)	M324V	probably benign	Het
H2-T13	A	T	17: 36,394,824 (GRCm39)	V33E	probably damaging	Het
Hdac10	T	C	15: 89,010,065 (GRCm39)	T298A	probably benign	Het
Hepacam	A	C	9: 37,295,224 (GRCm39)		probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Ifi27l2a	A	G	12: 103,408,639 (GRCm39)	V68A	probably damaging	Het
Itga11	A	G	9: 62,683,956 (GRCm39)	E1079G	probably benign	Het
Krt6a	T	C	15: 101,599,235 (GRCm39)		probably benign	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lrrtm2	G	A	18: 35,346,808 (GRCm39)	R165C	probably damaging	Het
Macf1	G	T	4: 123,279,271 (GRCm39)	A3910E	probably damaging	Het
Muc5ac	A	T	7: 141,361,252 (GRCm39)	Y1521F	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Ncam1	A	T	9: 49,473,476 (GRCm39)		probably benign	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nf1	T	G	11: 79,344,692 (GRCm39)	W1260G	probably damaging	Het
Or3a1d	T	C	11: 74,237,624 (GRCm39)	Y262C	probably damaging	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Or6c76b	A	T	10: 129,692,515 (GRCm39)	I43F	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pabpc4	C	T	4: 123,188,458 (GRCm39)	R356C	possibly damaging	Het
Pcbp2	T	A	15: 102,398,197 (GRCm39)	D182E	probably damaging	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Rnf31	T	C	14: 55,830,459 (GRCm39)		probably benign	Het
Robo3	T	A	9: 37,340,778 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Sema6a	A	G	18: 47,381,559 (GRCm39)	L996P	probably damaging	Het
Sh2d4a	T	A	8: 68,787,775 (GRCm39)	F294I	probably damaging	Het
Sorl1	T	A	9: 41,919,470 (GRCm39)		probably benign	Het
Sox1ot	G	T	8: 12,480,455 (GRCm39)		noncoding transcript	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Srd5a2	G	T	17: 74,331,516 (GRCm39)	N160K	probably damaging	Het
Sting1	A	G	18: 35,868,154 (GRCm39)		probably null	Het
Tmem132d	G	A	5: 128,061,503 (GRCm39)		probably benign	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Vmn2r93	A	G	17: 18,524,443 (GRCm39)	T146A	probably benign	Het
Wdr19	A	G	5: 65,413,782 (GRCm39)		probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het
Zfp683	T	C	4: 133,783,138 (GRCm39)	Y201H	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGACTTGAGGCTCCTGACAGATG -3'
(R):5'- AGCCCAGCTTGTTATGCAGCAC -3'

Sequencing Primer
(F):5'- CTCCTGACAGATGAGGGAGG -3'
(R):5'- ATGCAGCACTTGCTTGAGG -3'

Posted On

2013-11-08