Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Sbspon'

541290

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6953 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15853862-15892722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15860295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 156 (S156T)

Ref Sequence

ENSEMBL: ENSMUSP00000047730 (fasta)

Gene Model

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

AlphaFold

Q3UPR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040695
AA Change: S156T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: S156T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 58,028,827	S128I	probably damaging	Het
Aadacl2	A	C	3: 60,024,760	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,374,835	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,826,511	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,115,078	K71*	probably null	Het
Ap2m1	T	A	16: 20,542,718	W381R	probably damaging	Het
Ascc3	A	G	10: 50,645,666	I426V	probably benign	Het
BC024063	T	A	10: 82,107,899	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,850,632	H209Y	possibly damaging	Het
Ccp110	T	C	7: 118,722,421	V433A	possibly damaging	Het
Cfap54	A	G	10: 92,994,678	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,487,946	D362A	probably benign	Het
Dapk2	C	G	9: 66,254,622	R271G	probably benign	Het
Dnmt1	G	T	9: 20,918,526	Q633K	probably benign	Het
Ercc4	T	A	16: 13,130,686	V499D	probably damaging	Het
Ier3ip1	C	G	18: 76,939,613	P46R	probably damaging	Het
Ifi211	T	C	1: 173,906,266	T110A	probably damaging	Het
Isoc1	A	G	18: 58,671,302	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,874,072	D672G	possibly damaging	Het
Klhl33	T	A	14: 50,891,516	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,669,355	Y133H	probably benign	Het
Mrs2	C	A	13: 25,001,788	V134L	probably benign	Het
Muc16	T	C	9: 18,640,529	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,202,998	I62T	probably benign	Het
Olfr1380	A	G	11: 49,564,290	Y123C	probably damaging	Het
Olfr165	C	T	16: 19,407,528	V164I	probably benign	Het
Olfr773	A	T	10: 129,186,605	M272K	probably benign	Het
Olfr869	A	T	9: 20,138,003	I296L	probably benign	Het
Papln	G	A	12: 83,781,885	W788*	probably null	Het
Pcdhac2	A	G	18: 37,144,426	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,690,754	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,820,461	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,377,351	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,980,519	D114G	probably damaging	Het
Polr2a	A	T	11: 69,741,711	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,161,046	M134V	probably benign	Het
Pum2	T	A	12: 8,728,779		probably null	Het
Racgap1	T	C	15: 99,626,329	E399G	probably damaging	Het
Scn1a	T	C	2: 66,319,469	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,752,796	S78*	probably null	Het
Serpina1d	G	A	12: 103,767,730	T105I	probably benign	Het
Slc25a21	T	A	12: 57,159,169	N26Y	probably benign	Het
Smim20	T	A	5: 53,277,916	D64E	probably damaging	Het
Spag17	T	G	3: 100,034,975	I772S	possibly damaging	Het
Tars2	T	C	3: 95,753,114	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,831,371	T101I	probably damaging	Het
Tldc2	T	G	2: 157,089,278		probably null	Het
Ttn	A	G	2: 76,771,585	Y10251H	probably damaging	Het
Ush2a	A	G	1: 188,263,145	R38G	possibly damaging	Het
Usp19	T	C	9: 108,498,931	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,540,711	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,039,782	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 18,824,833	I504R	probably benign	Het
Zfp551	A	T	7: 12,416,788	C231*	probably null	Het
Zfp607a	T	A	7: 27,878,365	C287S	possibly damaging	Het
Zim1	T	A	7: 6,687,707	T40S	unknown	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
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
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'- CATTCACTCTTTCTGAAAGACTGGG -3'
(R):5'- TGCCACTAAGATCTTTGGCTATGG -3'

Sequencing Primer
(F):5'- CTCTTTCTGAAAGACTGGGAAAGCC -3'
(R):5'- TTGGCTATGGAATCAGAGATCTCAG -3'

Posted On

2018-11-28