Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Spsb1'

60960

Institutional Source

Beutler Lab

Gene Symbol

Spsb1

Ensembl Gene

ENSMUSG00000039911

Gene Name

splA/ryanodine receptor domain and SOCS box containing 1

Synonyms

SSB1, 1110014L01Rik, 4930422J18Rik

MMRRC Submission

038866-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0681 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

149980740-150039494 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149991374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 65 (V65I)

Ref Sequence

ENSEMBL: ENSMUSP00000119558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038562] [ENSMUST00000105684] [ENSMUST00000105685] [ENSMUST00000125135] [ENSMUST00000149360] [ENSMUST00000156897] [ENSMUST00000167342] [ENSMUST00000149743]

AlphaFold

Q9D5L7

Predicted Effect

probably benign
Transcript: ENSMUST00000038562
AA Change: V65I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048969
Gene: ENSMUSG00000039911
AA Change: V65I

Domain	Start	End	E-Value	Type
SPRY	95	230	4.93e-19	SMART
SOCS_box	234	273	2.04e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105684
AA Change: V65I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101309
Gene: ENSMUSG00000039911
AA Change: V65I

Domain	Start	End	E-Value	Type
SPRY	95	230	4.93e-19	SMART
SOCS_box	234	273	2.04e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105685
AA Change: V65I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101310
Gene: ENSMUSG00000039911
AA Change: V65I

Domain	Start	End	E-Value	Type
SPRY	95	230	4.93e-19	SMART
SOCS_box	234	273	2.04e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146532

Predicted Effect

probably benign
Transcript: ENSMUST00000149360

Predicted Effect

probably benign
Transcript: ENSMUST00000156897
AA Change: V65I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119558
Gene: ENSMUSG00000039911
AA Change: V65I

Domain	Start	End	E-Value	Type
Pfam:SPRY	95	201	5.8e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156451

Predicted Effect

probably benign
Transcript: ENSMUST00000167342

Predicted Effect

probably benign
Transcript: ENSMUST00000149743

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cldn6	C	A	17: 23,900,167 (GRCm39)	Q44K	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyb561d1	A	G	3: 108,106,583 (GRCm39)	V212A	probably benign	Het
Cyp1b1	A	G	17: 80,021,275 (GRCm39)	S156P	probably damaging	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Fastkd3	C	T	13: 68,740,047 (GRCm39)		probably benign	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Mapk9	T	A	11: 49,760,072 (GRCm39)	S129T	probably damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Palm	A	C	10: 79,655,327 (GRCm39)	T362P	probably benign	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	probably damaging	Het

Other mutations in Spsb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Spsb1	APN	4	149,991,564 (GRCm39)	start codon destroyed	probably null	1.00
LCD18:Spsb1	UTSW	4	150,036,943 (GRCm39)	intron	probably benign
R0200:Spsb1	UTSW	4	149,982,673 (GRCm39)	makesense	probably null
R0733:Spsb1	UTSW	4	149,991,374 (GRCm39)	missense	probably benign
R0894:Spsb1	UTSW	4	149,990,872 (GRCm39)	critical splice donor site	probably null
R0947:Spsb1	UTSW	4	149,991,536 (GRCm39)	missense	probably benign	0.00
R1840:Spsb1	UTSW	4	149,991,088 (GRCm39)	missense	probably damaging	0.99
R1845:Spsb1	UTSW	4	149,991,367 (GRCm39)	missense	probably damaging	1.00
R4356:Spsb1	UTSW	4	149,991,232 (GRCm39)	missense	probably damaging	1.00
R4357:Spsb1	UTSW	4	149,991,232 (GRCm39)	missense	probably damaging	1.00
R4358:Spsb1	UTSW	4	149,991,232 (GRCm39)	missense	probably damaging	1.00
R4359:Spsb1	UTSW	4	149,991,232 (GRCm39)	missense	probably damaging	1.00
R4656:Spsb1	UTSW	4	149,990,867 (GRCm39)	splice site	probably null
R4970:Spsb1	UTSW	4	149,991,612 (GRCm39)	start gained	probably benign
R6304:Spsb1	UTSW	4	149,991,188 (GRCm39)	missense	probably benign	0.30
R6767:Spsb1	UTSW	4	149,991,301 (GRCm39)	missense	probably damaging	1.00
R7502:Spsb1	UTSW	4	149,991,385 (GRCm39)	missense	possibly damaging	0.88
R7615:Spsb1	UTSW	4	149,991,357 (GRCm39)	missense	probably benign
R7944:Spsb1	UTSW	4	149,990,903 (GRCm39)	missense	probably benign	0.00
R7974:Spsb1	UTSW	4	149,991,566 (GRCm39)	start codon destroyed	probably damaging	1.00
R8945:Spsb1	UTSW	4	149,991,475 (GRCm39)	missense	possibly damaging	0.90
R9461:Spsb1	UTSW	4	149,990,907 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTACCCAACGGAGTGCAAAG -3'
(R):5'- TGGAGTCAACGACCCAAGATTGATG -3'

Sequencing Primer
(F):5'- CAAAGGGGCATCTGCTGTG -3'
(R):5'- GACCCAAGATTGATGAGTTTGCC -3'

Posted On

2013-07-30