Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02929:Sbspon'

364040

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 #

IGL02929

Quality Score

Status

Chromosome

Chromosomal Location

15924086-15962946 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 15954069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047730 (fasta)

Gene Model

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

AlphaFold

Q3UPR9

Predicted Effect

probably benign
Transcript: ENSMUST00000040695

SMART Domains

Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	A	G	5: 130,413,252 (GRCm39)		probably null	Het
Abcb5	T	C	12: 118,908,674 (GRCm39)	Y90C	probably damaging	Het
Accs	T	C	2: 93,674,566 (GRCm39)	D112G	probably damaging	Het
Adam32	C	A	8: 25,362,659 (GRCm39)	V13L	possibly damaging	Het
Adgrb3	A	G	1: 25,592,905 (GRCm39)	V294A	probably benign	Het
Agt	G	T	8: 125,283,829 (GRCm39)	A430E	probably benign	Het
Agxt2	T	C	15: 10,388,379 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,056,116 (GRCm39)	I235N	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Atrx	T	C	X: 104,923,512 (GRCm39)		probably null	Het
Brcc3	T	C	X: 74,479,105 (GRCm39)	V117A	possibly damaging	Het
Casp8ap2	T	C	4: 32,624,105 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,892,115 (GRCm39)	V286D	probably damaging	Het
Cpb1	T	C	3: 20,329,630 (GRCm39)	D32G	probably benign	Het
Cpsf1	C	A	15: 76,486,327 (GRCm39)		probably null	Het
Dnai4	C	T	4: 102,917,188 (GRCm39)	W552*	probably null	Het
Dock2	A	T	11: 34,218,048 (GRCm39)	V1174E	probably damaging	Het
Dqx1	A	G	6: 83,037,465 (GRCm39)		probably benign	Het
Ercc1	T	C	7: 19,089,288 (GRCm39)		probably null	Het
Fn1	A	G	1: 71,634,821 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,944,507 (GRCm39)	M75K	possibly damaging	Het
Ice1	A	G	13: 70,744,322 (GRCm39)	L2087P	probably damaging	Het
Ift122	A	G	6: 115,879,838 (GRCm39)	D612G	probably damaging	Het
Igkv6-25	A	G	6: 70,192,929 (GRCm39)	Y112C	probably damaging	Het
Kit	C	A	5: 75,801,429 (GRCm39)	P572Q	probably damaging	Het
Kras	A	G	6: 145,177,815 (GRCm39)		probably benign	Het
Ltv1	T	C	10: 13,067,970 (GRCm39)	K6R	possibly damaging	Het
Man1a	C	T	10: 53,801,531 (GRCm39)	V443I	probably benign	Het
Mat2b	A	C	11: 40,575,540 (GRCm39)	D154E	probably benign	Het
Mtrf1	A	G	14: 79,640,273 (GRCm39)	K143E	probably benign	Het
Myh13	A	C	11: 67,257,991 (GRCm39)	I95L	probably damaging	Het
Myo7b	A	T	18: 32,127,978 (GRCm39)	D571E	probably benign	Het
Nek10	T	A	14: 14,821,119 (GRCm38)	D28E	possibly damaging	Het
Npm2	T	A	14: 70,889,678 (GRCm39)		probably null	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Plcb2	G	A	2: 118,543,715 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,719,810 (GRCm39)	M368T	probably benign	Het
Rnf123	G	T	9: 107,946,275 (GRCm39)	T300K	probably benign	Het
Slc52a2	G	A	15: 76,424,776 (GRCm39)	C338Y	probably benign	Het
Tdrd6	T	A	17: 43,940,604 (GRCm39)	Q148L	possibly damaging	Het
Tle5	T	A	10: 81,400,672 (GRCm39)		probably null	Het
Trpc3	T	A	3: 36,692,623 (GRCm39)	K790*	probably null	Het
Ushbp1	C	T	8: 71,847,120 (GRCm39)	A171T	probably damaging	Het
Usp32	T	C	11: 84,879,198 (GRCm39)	T1504A	probably benign	Het

Other mutations in Sbspon

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Sbspon	APN	1	15,929,158 (GRCm39)	missense	probably benign	0.24
IGL02213:Sbspon	APN	1	15,929,150 (GRCm39)	missense	probably benign	0.02
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

2015-12-18