Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01951:Sbspon'

181029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sbspon

Ensembl Gene

ENSMUSG00000032719

Gene Name

somatomedin B and thrombospondin, type 1 domain containing

Synonyms

Gm106, LOC226866

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01951

Quality Score

Status

Chromosome

Chromosomal Location

15853862-15892722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15858934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 211 (N211S)

Ref Sequence

ENSEMBL: ENSMUSP00000047730 (fasta)

Gene Model

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

AlphaFold

Q3UPR9

Predicted Effect

probably benign
Transcript: ENSMUST00000040695
AA Change: N211S

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: N211S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,235,668	I152T	probably damaging	Het
A2m	C	T	6: 121,667,190	T949I	possibly damaging	Het
Begain	T	A	12: 109,033,645	Y605F	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cavin2	A	G	1: 51,289,411	E9G	possibly damaging	Het
Cdh16	A	G	8: 104,617,691	V72A	probably damaging	Het
Dgkd	T	C	1: 87,916,916	L268P	probably damaging	Het
Eps8	T	A	6: 137,537,671	Y28F	possibly damaging	Het
Erap1	T	C	13: 74,675,295	I816T	probably damaging	Het
Fli1	A	T	9: 32,461,364	F126Y	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21957	A	T	7: 125,219,832		noncoding transcript	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gm9833	G	A	3: 10,089,058	V296M	probably damaging	Het
Hectd1	T	A	12: 51,794,497	R618*	probably null	Het
Homez	T	C	14: 54,858,176	E25G	probably damaging	Het
Ifngr1	C	A	10: 19,609,454	N400K	possibly damaging	Het
Lin7a	G	A	10: 107,412,025	V186I	possibly damaging	Het
Lpcat2	G	T	8: 92,918,047	S448I	probably damaging	Het
Lrp10	C	A	14: 54,468,662	Y436*	probably null	Het
Myo1f	A	G	17: 33,598,017	H707R	possibly damaging	Het
Neurl4	A	G	11: 69,909,623	N1147D	probably damaging	Het
Olfr1272	G	T	2: 90,282,007	D189E	probably damaging	Het
Olfr1414	T	C	1: 92,511,131	D299G	probably null	Het
Pak6	T	C	2: 118,693,260	S299P	probably benign	Het
Panx2	A	G	15: 89,068,767	D487G	probably damaging	Het
Sgsm1	T	A	5: 113,286,767		probably benign	Het
Slc38a4	T	C	15: 97,019,763	Y27C	probably benign	Het
Sorbs1	A	G	19: 40,318,016		probably benign	Het
Ssh1	A	T	5: 113,966,247	Y35N	possibly damaging	Het
Stx2	A	T	5: 128,992,265	F127L	probably damaging	Het
Synm	A	T	7: 67,739,137	I325N	probably damaging	Het
Szt2	A	G	4: 118,376,493		probably benign	Het
Tbc1d23	A	G	16: 57,186,685		probably benign	Het
Tmem50a	T	C	4: 134,898,428		probably benign	Het
Tpx2	T	G	2: 152,884,176	L354V	probably benign	Het
Trafd1	G	A	5: 121,374,031	R399C	possibly damaging	Het
Trem3	C	T	17: 48,249,875	R125W	probably damaging	Het
Ubp1	T	A	9: 113,951,618	Y92*	probably null	Het
Wnk1	T	A	6: 119,963,485	T62S	probably damaging	Het
Zbtb6	T	C	2: 37,429,331	E195G	probably benign	Het
Zc3h15	A	G	2: 83,661,485	D306G	probably damaging	Het

Other mutations in Sbspon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07