Mutagenetix > Incidental Mutation

Incidental Mutation 'R1648:Sbspon'

173993

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

039684-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1648 (G1)

Quality Score

138

Status

Validated

Chromosome

Chromosomal Location

15853862-15892722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15883759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 99 (R99L)

Ref Sequence

ENSEMBL: ENSMUSP00000047730 (fasta)

Gene Model

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

AlphaFold

Q3UPR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040695
AA Change: R99L

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

SMART Domains

Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: R99L

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: ENSMUST00000158318

Meta Mutation Damage Score

0.5845

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.4%

Validation Efficiency

95% (73/77)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,420	N1457D	probably benign	Het
Adgb	A	G	10: 10,395,371	F817L	probably damaging	Het
Akap6	A	T	12: 53,142,006	K2068*	probably null	Het
Alms1	T	C	6: 85,678,402	L3310P	probably damaging	Het
Ankrd27	T	A	7: 35,603,853	D219E	probably benign	Het
Atp10a	T	C	7: 58,784,827	V283A	probably damaging	Het
Atp11a	C	T	8: 12,847,495	S270L	probably damaging	Het
Casp3	T	C	8: 46,638,074	S254P	probably benign	Het
Cep104	G	A	4: 153,979,096		probably null	Het
Cep170b	C	T	12: 112,736,372	T423I	probably damaging	Het
Cfap58	A	G	19: 47,955,405	E348G	probably benign	Het
Chd6	A	G	2: 161,042,058	L89S	probably damaging	Het
Cyp2a22	T	C	7: 26,932,368	S488G	probably damaging	Het
D130040H23Rik	C	A	8: 69,302,981	H363Q	probably benign	Het
Dcaf7	T	A	11: 106,051,802	F192I	probably damaging	Het
Ddx20	T	C	3: 105,679,188	I614V	probably benign	Het
Ehbp1	G	A	11: 22,096,000	T558I	probably damaging	Het
Eif2ak3	T	A	6: 70,883,631	V397D	possibly damaging	Het
Eif2b5	T	C	16: 20,502,585	V296A	possibly damaging	Het
Esr1	A	G	10: 5,001,260	E546G	possibly damaging	Het
Fras1	T	A	5: 96,726,613		probably null	Het
G930045G22Rik	T	C	6: 50,846,718		noncoding transcript	Het
Gemin5	A	T	11: 58,147,979	L568*	probably null	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,301,883		probably benign	Het
Gpr155	T	C	2: 73,364,164		probably null	Het
Has1	A	G	17: 17,849,985	Y225H	probably damaging	Het
Hk3	A	G	13: 55,014,461	F110S	probably damaging	Het
Iars	A	G	13: 49,723,002	K848E	possibly damaging	Het
Kif17	A	G	4: 138,269,895	Y43C	probably damaging	Het
Kif20b	A	T	19: 34,936,790	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,994,367	T237A	probably damaging	Het
Klc1	T	C	12: 111,776,887	L216P	probably damaging	Het
Krt7	A	C	15: 101,412,567	S32R	probably damaging	Het
Lama3	A	G	18: 12,532,199	D2330G	possibly damaging	Het
Limch1	T	A	5: 66,999,256	S511R	probably damaging	Het
Luzp2	T	A	7: 55,264,270		probably null	Het
Macc1	T	C	12: 119,446,421	M308T	probably benign	Het
Mroh9	T	G	1: 163,046,056	E510A	probably damaging	Het
Myo1h	G	T	5: 114,336,275	L458F	probably damaging	Het
Neto1	A	T	18: 86,500,054	Y528F	probably damaging	Het
Nlrp9b	T	A	7: 20,026,544	C187S	possibly damaging	Het
Nup160	T	C	2: 90,710,088	Y854H	probably damaging	Het
Odc1	T	C	12: 17,548,537		probably benign	Het
Olfr1436	T	A	19: 12,298,659	I158L	probably benign	Het
Olfr519	A	G	7: 108,893,765	I214T	probably damaging	Het
Olfr642	A	G	7: 104,050,169	Y62H	probably damaging	Het
Plcb2	A	T	2: 118,723,780	M64K	possibly damaging	Het
Plcxd3	A	T	15: 4,375,809	I33F	probably benign	Het
Postn	A	G	3: 54,376,101	T534A	probably damaging	Het
Prkd2	T	A	7: 16,857,807	F588I	possibly damaging	Het
Prrg4	C	A	2: 104,832,743	A173S	probably benign	Het
Rinl	C	T	7: 28,797,632	A519V	probably damaging	Het
Rpgrip1l	A	C	8: 91,252,889	V975G	probably damaging	Het
Rps6ka4	C	A	19: 6,839,362	V118L	probably benign	Het
Rtkn	T	C	6: 83,135,994	S16P	probably damaging	Het
Sdf4	G	A	4: 155,999,429	A119T	probably damaging	Het
Sgpp1	T	A	12: 75,716,216	H397L	possibly damaging	Het
Shc2	T	A	10: 79,626,111	M367L	probably benign	Het
Slc26a5	T	A	5: 21,813,976	K590*	probably null	Het
Slc39a12	T	C	2: 14,451,992	V597A	probably benign	Het
Smcp	A	T	3: 92,584,481	C20S	unknown	Het
Tdrd6	A	C	17: 43,627,109	V1016G	possibly damaging	Het
Tmem132c	T	A	5: 127,463,056		probably benign	Het
Tmem170b	A	T	13: 41,606,262	Q16L	probably null	Het
Tmem30a	A	G	9: 79,793,029	F61S	probably damaging	Het
Tnfsf13b	T	C	8: 10,031,534	M232T	probably damaging	Het
Trip11	T	A	12: 101,884,392	K853*	probably null	Het
Tusc3	C	A	8: 39,046,567	S64*	probably null	Het
Vmn2r111	A	T	17: 22,569,061	D436E	probably benign	Het
Zfp607a	T	C	7: 27,879,068	V521A	probably benign	Het
Zfp704	A	T	3: 9,471,039	S140R	probably damaging	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
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
R4850:Sbspon	UTSW	1	15858968	missense	probably damaging	0.98
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'- CTGAAGCTCGTGGAACTTTCCCTG -3'
(R):5'- AGAAATTTACCTGTGTGTCCCTGGC -3'

Sequencing Primer
(F):5'- CTGAGCACCATATGATCTTTCAGG -3'
(R):5'- TATCAGTTAACCATCAGGCTGGG -3'

Posted On

2014-04-24