Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Sbspon'

373437

Institutional Source

Beutler Lab

Gene Symbol

Sbspon

Ensembl Gene

ENSMUSG00000032719

Gene Name

somatomedin B and thrombospondin, type 1 domain containing

Synonyms

Gm106, LOC226866

MMRRC Submission

042462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15853862-15892722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15858968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 200 (T200S)

Ref Sequence

ENSEMBL: ENSMUSP00000047730 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040695]

AlphaFold

Q3UPR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040695
AA Change: T200S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: T200S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Blast:SO	25	74	2e-13	BLAST
TSP1	77	133	4.82e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194867

Meta Mutation Damage Score

0.1323

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,262,938	S3012P	unknown	Het
Abcb10	C	T	8: 123,982,690	A42T	probably benign	Het
Acsf3	T	C	8: 122,817,436	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,859,020	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,554,587		probably null	Het
Ankrd17	A	T	5: 90,264,786	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,398,791	I847T	probably damaging	Het
Atad2b	G	A	12: 4,943,251	G257S	probably benign	Het
Cand2	A	T	6: 115,801,948	T1158S	probably benign	Het
Cic	G	A	7: 25,272,902	R686H	probably damaging	Het
Cldn1	T	A	16: 26,363,163	T99S	probably benign	Het
Cnga3	G	T	1: 37,258,006	E173*	probably null	Het
Cryge	G	T	1: 65,051,052		probably benign	Het
Dsp	T	A	13: 38,192,469	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364	T1548A	probably benign	Het
Dysf	C	A	6: 84,097,715	D499E	probably damaging	Het
Eml5	T	C	12: 98,790,619	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam71d	A	G	12: 78,715,153	D197G	probably damaging	Het
Fn3krp	A	T	11: 121,425,053	H90L	possibly damaging	Het
Gm10718	A	T	9: 3,023,716	T56S	probably benign	Het
Gm4847	A	T	1: 166,642,339	I55K	probably damaging	Het
Gsn	T	A	2: 35,283,900		probably null	Het
Haghl	T	C	17: 25,783,006		probably benign	Het
Hist1h2bj	G	T	13: 22,043,251		probably benign	Het
Hmg20b	T	A	10: 81,346,927	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,807,905	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,726,796	S42P	probably damaging	Het
Igsf23	T	C	7: 19,953,934		probably benign	Het
Kcnt1	T	C	2: 25,908,100	F874L	probably damaging	Het
Maf1	T	C	15: 76,352,962	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044	R365W	probably damaging	Het
Mtus1	A	C	8: 41,084,470	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,697,865	T307S	probably benign	Het
Nphs1	T	G	7: 30,463,232	S379A	possibly damaging	Het
Nup205	A	G	6: 35,230,530	T1506A	probably benign	Het
Olfr1044	T	A	2: 86,171,671	I49F	probably damaging	Het
Olfr275	T	C	4: 52,825,450	S18P	possibly damaging	Het
Pcdhga8	A	T	18: 37,727,709	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,243,117	V123A	probably benign	Het
Pex1	C	T	5: 3,624,426	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,599,743	L498P	probably damaging	Het
Pros1	A	T	16: 62,885,524	E67V	probably damaging	Het
Rab44	A	G	17: 29,140,089	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,973,640		probably null	Het
Rp1	T	A	1: 4,348,675	K738M	probably damaging	Het
Ryr2	A	T	13: 11,668,820	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,745,752	R1482C	probably damaging	Het
Sfxn5	T	C	6: 85,332,376		probably benign	Het
Slc26a8	T	A	17: 28,654,883	I377F	probably benign	Het
Slc30a7	A	G	3: 115,993,008	F72L	probably damaging	Het
Slc32a1	T	C	2: 158,614,192	F256L	possibly damaging	Het
Slco6b1	T	C	1: 96,911,833		noncoding transcript	Het
Smpd1	A	G	7: 105,555,985	H357R	probably benign	Het
Sncaip	A	T	18: 52,871,384	H361L	probably damaging	Het
Tenm2	A	C	11: 36,023,488	Y2406*	probably null	Het
Terb1	T	A	8: 104,485,425	H308L	probably benign	Het
Trim61	A	T	8: 65,013,418	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,205,113		probably null	Het
Ttn	T	G	2: 76,781,555	E9007D	possibly damaging	Het
Urb1	A	T	16: 90,795,414	C319*	probably null	Het
Vmn2r95	T	C	17: 18,451,653	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,048	V326D	possibly damaging	Het
Xdh	A	G	17: 73,898,335	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,979,475	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,655,956		probably benign	Het

Other mutations in Sbspon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Sbspon	APN	1	15858934	missense	probably benign	0.24
IGL02213:Sbspon	APN	1	15858926	missense	probably benign	0.02
IGL02929:Sbspon	APN	1	15883845	splice site	probably benign
R1580:Sbspon	UTSW	1	15892468	missense	probably damaging	1.00
R1647:Sbspon	UTSW	1	15883759	missense	probably damaging	1.00
R1648:Sbspon	UTSW	1	15883759	missense	probably damaging	1.00
R1952:Sbspon	UTSW	1	15860295	missense	probably damaging	1.00
R3105:Sbspon	UTSW	1	15892582	missense	probably benign	0.06
R3106:Sbspon	UTSW	1	15892582	missense	probably benign	0.06
R3712:Sbspon	UTSW	1	15892445	missense	probably damaging	0.97
R4855:Sbspon	UTSW	1	15859040	missense	possibly damaging	0.94
R6374:Sbspon	UTSW	1	15883663	missense	probably benign
R6953:Sbspon	UTSW	1	15860295	missense	probably damaging	0.97
R7255:Sbspon	UTSW	1	15883797	nonsense	probably null
R7678:Sbspon	UTSW	1	15859058	missense	probably benign
R7828:Sbspon	UTSW	1	15860319	missense	probably damaging	1.00
R9471:Sbspon	UTSW	1	15892453	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGCCCTGGATCTGAGTCC -3'
(R):5'- TGACATGGCTCCTCCTTAAGAC -3'

Sequencing Primer
(F):5'- TGGATCTGAGTCCCTGGACAG -3'
(R):5'- AAGACTTCCTACAGTATTGGGCC -3'

Posted On

2016-03-01