Mutagenetix > Incidental Mutation

Incidental Mutation 'R3105:Sbspon'

334575

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

040579-MU

Accession Numbers

Essential gene?

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

Stock #

R3105 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15924086-15962946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15962806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 24 (E24G)

Ref Sequence

ENSEMBL: ENSMUSP00000047730 (fasta)

Gene Model

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

AlphaFold

Q3UPR9

Predicted Effect

probably benign
Transcript: ENSMUST00000040695
AA Change: E24G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047730
Gene: ENSMUSG00000032719
AA Change: E24G

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

Meta Mutation Damage Score

0.1016

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	T	C	1: 75,151,687 (GRCm39)		probably benign	Het
Abhd13	T	C	8: 10,037,931 (GRCm39)	V176A	probably benign	Het
Alpk2	A	T	18: 65,483,281 (GRCm39)	S242R	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc163	C	A	4: 116,566,697 (GRCm39)	Q58K	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Clca4b	A	T	3: 144,622,432 (GRCm39)	N544K	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dip2b	C	A	15: 100,040,018 (GRCm39)	C138*	probably null	Het
Dnaja2	G	A	8: 86,281,857 (GRCm39)	T7M	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
F11	T	A	8: 45,698,754 (GRCm39)	Q463H	probably damaging	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm8730	T	C	8: 103,591,895 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Lrp4	T	C	2: 91,331,394 (GRCm39)	Y1585H	probably benign	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Map2	T	C	1: 66,472,756 (GRCm39)		probably null	Het
Or4a78	T	C	2: 89,497,302 (GRCm39)	I309M	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Otof	A	G	5: 30,539,145 (GRCm39)	Y1090H	probably benign	Het
Pgr	T	A	9: 8,958,397 (GRCm39)	F801L	probably benign	Het
Pomk	A	C	8: 26,472,942 (GRCm39)	L337R	probably damaging	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sec16a	G	A	2: 26,328,433 (GRCm39)	P1194L	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Slc22a29	T	C	19: 8,147,337 (GRCm39)	T342A	probably benign	Het
Spaca1	G	A	4: 34,028,468 (GRCm39)	T283M	probably damaging	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Taf6l	C	T	19: 8,756,219 (GRCm39)	S208N	probably damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn1r205	T	C	13: 22,777,109 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGATTCCTGGCTTCCTAGGGG -3'
(R):5'- GAGGCAGAGTTTGGATCCTG -3'

Sequencing Primer
(F):5'- TGGCTTCCTAGGGGTCCCTC -3'
(R):5'- TGTGAGAGCACCTGGGG -3'

Posted On

2015-09-09