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

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01951

Quality Score

Status

Chromosome

Chromosomal Location

15924086-15962946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15929158 bp (GRCm39)

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: 103,092,865 (GRCm39)	I152T	probably damaging	Het
A2m	C	T	6: 121,644,149 (GRCm39)	T949I	possibly damaging	Het
Begain	T	A	12: 108,999,571 (GRCm39)	Y605F	probably benign	Het
Cavin2	A	G	1: 51,328,570 (GRCm39)	E9G	possibly damaging	Het
Cdh16	A	G	8: 105,344,323 (GRCm39)	V72A	probably damaging	Het
Dgkd	T	C	1: 87,844,638 (GRCm39)	L268P	probably damaging	Het
Eps8	T	A	6: 137,514,669 (GRCm39)	Y28F	possibly damaging	Het
Erap1	T	C	13: 74,823,414 (GRCm39)	I816T	probably damaging	Het
Fli1	A	T	9: 32,372,660 (GRCm39)	F126Y	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21957	A	T	7: 124,819,004 (GRCm39)		noncoding transcript	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Hectd1	T	A	12: 51,841,280 (GRCm39)	R618*	probably null	Het
Homez	T	C	14: 55,095,633 (GRCm39)	E25G	probably damaging	Het
Ifngr1	C	A	10: 19,485,202 (GRCm39)	N400K	possibly damaging	Het
Lin7a	G	A	10: 107,247,886 (GRCm39)	V186I	possibly damaging	Het
Lpcat2	G	T	8: 93,644,675 (GRCm39)	S448I	probably damaging	Het
Lrp10	C	A	14: 54,706,119 (GRCm39)	Y436*	probably null	Het
Myef2l	G	A	3: 10,154,118 (GRCm39)	V296M	probably damaging	Het
Myo1f	A	G	17: 33,816,991 (GRCm39)	H707R	possibly damaging	Het
Neurl4	A	G	11: 69,800,449 (GRCm39)	N1147D	probably damaging	Het
Or4b1b	G	T	2: 90,112,351 (GRCm39)	D189E	probably damaging	Het
Or6b3	T	C	1: 92,438,853 (GRCm39)	D299G	probably null	Het
Pak6	T	C	2: 118,523,741 (GRCm39)	S299P	probably benign	Het
Panx2	A	G	15: 88,952,970 (GRCm39)	D487G	probably damaging	Het
Sgsm1	T	A	5: 113,434,633 (GRCm39)		probably benign	Het
Slc38a4	T	C	15: 96,917,644 (GRCm39)	Y27C	probably benign	Het
Sorbs1	A	G	19: 40,306,460 (GRCm39)		probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Ssh1	A	T	5: 114,104,308 (GRCm39)	Y35N	possibly damaging	Het
Stx2	A	T	5: 129,069,329 (GRCm39)	F127L	probably damaging	Het
Synm	A	T	7: 67,388,885 (GRCm39)	I325N	probably damaging	Het
Szt2	A	G	4: 118,233,690 (GRCm39)		probably benign	Het
Tbc1d23	A	G	16: 57,007,048 (GRCm39)		probably benign	Het
Tmem50a	T	C	4: 134,625,739 (GRCm39)		probably benign	Het
Tpx2	T	G	2: 152,726,096 (GRCm39)	L354V	probably benign	Het
Trafd1	G	A	5: 121,512,094 (GRCm39)	R399C	possibly damaging	Het
Trem3	C	T	17: 48,556,903 (GRCm39)	R125W	probably damaging	Het
Ubp1	T	A	9: 113,780,686 (GRCm39)	Y92*	probably null	Het
Wnk1	T	A	6: 119,940,446 (GRCm39)	T62S	probably damaging	Het
Zbtb6	T	C	2: 37,319,343 (GRCm39)	E195G	probably benign	Het
Zc3h15	A	G	2: 83,491,829 (GRCm39)	D306G	probably damaging	Het

Other mutations in Sbspon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02213:Sbspon	APN	1	15,929,150 (GRCm39)	missense	probably benign	0.02
IGL02929:Sbspon	APN	1	15,954,069 (GRCm39)	splice site	probably benign
R1580:Sbspon	UTSW	1	15,962,692 (GRCm39)	missense	probably damaging	1.00
R1647:Sbspon	UTSW	1	15,953,983 (GRCm39)	missense	probably damaging	1.00
R1648:Sbspon	UTSW	1	15,953,983 (GRCm39)	missense	probably damaging	1.00
R1952:Sbspon	UTSW	1	15,930,519 (GRCm39)	missense	probably damaging	1.00
R3105:Sbspon	UTSW	1	15,962,806 (GRCm39)	missense	probably benign	0.06
R3106:Sbspon	UTSW	1	15,962,806 (GRCm39)	missense	probably benign	0.06
R3712:Sbspon	UTSW	1	15,962,669 (GRCm39)	missense	probably damaging	0.97
R4850:Sbspon	UTSW	1	15,929,192 (GRCm39)	missense	probably damaging	0.98
R4855:Sbspon	UTSW	1	15,929,264 (GRCm39)	missense	possibly damaging	0.94
R6374:Sbspon	UTSW	1	15,953,887 (GRCm39)	missense	probably benign
R6953:Sbspon	UTSW	1	15,930,519 (GRCm39)	missense	probably damaging	0.97
R7255:Sbspon	UTSW	1	15,954,021 (GRCm39)	nonsense	probably null
R7678:Sbspon	UTSW	1	15,929,282 (GRCm39)	missense	probably benign
R7828:Sbspon	UTSW	1	15,930,543 (GRCm39)	missense	probably damaging	1.00
R9471:Sbspon	UTSW	1	15,962,677 (GRCm39)	missense	probably benign

Posted On

2014-05-07