Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02071:Sbno2'

185820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sbno2

Ensembl Gene

ENSMUSG00000035673

Gene Name

strawberry notch 2

Synonyms

Stno

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.507) question?

Stock #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

80056992-80105571 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80060641 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 877 (D877E)

Ref Sequence

ENSEMBL: ENSMUSP00000151854 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000097227] [ENSMUST00000105372] [ENSMUST00000183037] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219260]

Predicted Effect

probably damaging
Transcript: ENSMUST00000042771
AA Change: D877E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: D877E

Domain	Start	End	E-Value	Type
low complexity region	96	112	N/A	INTRINSIC
low complexity region	177	189	N/A	INTRINSIC
Pfam:AAA_34	209	500	8.2e-135	PFAM
Pfam:ResIII	239	419	7.7e-8	PFAM
low complexity region	611	631	N/A	INTRINSIC
Pfam:Helicase_C_4	726	1004	7.5e-120	PFAM
low complexity region	1263	1283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097227

SMART Domains

Protein: ENSMUSP00000094863
Gene: ENSMUSG00000075706

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
Pfam:GSHPx	97	204	6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105372

SMART Domains

Protein: ENSMUSP00000101011
Gene: ENSMUSG00000075706

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:GSHPx	41	148	1.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154095

Predicted Effect

probably benign
Transcript: ENSMUST00000183037

SMART Domains

Protein: ENSMUSP00000138186
Gene: ENSMUSG00000075706

Domain	Start	End	E-Value	Type
Pfam:GSHPx	1	108	3.6e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217876

Predicted Effect

probably benign
Transcript: ENSMUST00000217972

Predicted Effect

probably damaging
Transcript: ENSMUST00000218630
AA Change: D877E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219260
AA Change: D877E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired osteoclast fusion, impaired osteoblastogenesis, osteopetrosis, increased bone mass, and decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,582,812	R92C	probably damaging	Het
Adam29	C	A	8: 55,871,554	V622L	possibly damaging	Het
Bzw2	T	C	12: 36,107,503	H321R	probably benign	Het
C2cd2	C	T	16: 97,870,232	R489Q	probably damaging	Het
Ccdc129	C	A	6: 55,967,725	S477*	probably null	Het
Cdh23	G	A	10: 60,523,560	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,660,887		probably null	Het
D630039A03Rik	T	C	4: 57,910,309	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,078,765	L97P	possibly damaging	Het
Dpep2	A	T	8: 105,985,144	H550Q	probably benign	Het
Dvl2	C	A	11: 70,004,800		probably null	Het
Fam234b	A	G	6: 135,227,151		probably null	Het
Fxyd5	A	G	7: 31,040,188	V32A	possibly damaging	Het
Mak16	A	T	8: 31,160,529	S251T	probably benign	Het
Med10	T	C	13: 69,815,628	V116A	probably benign	Het
Mycbp2	G	A	14: 103,154,907	R50*	probably null	Het
Nckap5	G	A	1: 125,981,568	P272L	probably damaging	Het
Nf1	T	A	11: 79,444,121	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,481,753	V749E	probably damaging	Het
Olfr1042	C	A	2: 86,159,875	R165L	probably benign	Het
Olfr78	A	C	7: 102,742,148	V285G	probably damaging	Het
Osbpl9	T	C	4: 109,071,979	Y417C	probably damaging	Het
Otop1	G	A	5: 38,287,983	A162T	probably damaging	Het
Patl1	C	A	19: 11,939,690	P634T	probably damaging	Het
Ppl	A	T	16: 5,113,072	S28T	probably benign	Het
Prkar2b	C	T	12: 31,963,017	G367R	probably damaging	Het
Rbl2	G	A	8: 91,102,198	V576I	probably damaging	Het
Rgl3	C	T	9: 21,988,263	A53T	probably benign	Het
Rp1	T	A	1: 4,345,310	I1860F	possibly damaging	Het
Sectm1b	C	T	11: 121,055,935	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,577,952	V741I	probably benign	Het
Sugt1	T	A	14: 79,610,283	L191*	probably null	Het
Tcf21	A	T	10: 22,817,810	V156E	possibly damaging	Het
Tep1	T	A	14: 50,834,049	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,297,256	F241S	probably damaging	Het
Traf6	G	A	2: 101,696,793	C296Y	probably benign	Het
Trim40	A	G	17: 36,889,178	S3P	probably benign	Het
Ttll2	A	T	17: 7,351,731	Y266N	probably damaging	Het
Vps54	A	G	11: 21,275,071	N177S	probably null	Het

Other mutations in Sbno2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Sbno2	APN	10	80064506	splice site	probably benign
IGL01773:Sbno2	APN	10	80057831	missense	probably damaging	1.00
IGL01869:Sbno2	APN	10	80060392	critical splice donor site	probably null
IGL01911:Sbno2	APN	10	80069624	nonsense	probably null
IGL02094:Sbno2	APN	10	80057645	missense	probably benign
IGL02220:Sbno2	APN	10	80072368	missense	probably benign	0.04
IGL02366:Sbno2	APN	10	80064202	missense	probably damaging	1.00
IGL02608:Sbno2	APN	10	80067402	splice site	probably null
IGL03007:Sbno2	APN	10	80058550	splice site	probably benign
IGL03083:Sbno2	APN	10	80057534	missense	probably damaging	0.98
IGL03393:Sbno2	APN	10	80066901	missense	probably damaging	1.00
R0034:Sbno2	UTSW	10	80058340	splice site	probably benign
R0126:Sbno2	UTSW	10	80068853	splice site	probably null
R0652:Sbno2	UTSW	10	80067294	missense	probably damaging	1.00
R0964:Sbno2	UTSW	10	80084259	missense	possibly damaging	0.75
R1571:Sbno2	UTSW	10	80060392	critical splice donor site	probably null
R1601:Sbno2	UTSW	10	80060492	missense	probably damaging	0.98
R1634:Sbno2	UTSW	10	80060634	missense	possibly damaging	0.73
R1733:Sbno2	UTSW	10	80058508	missense	possibly damaging	0.92
R1762:Sbno2	UTSW	10	80066606	missense	probably damaging	1.00
R1832:Sbno2	UTSW	10	80060605	nonsense	probably null
R1859:Sbno2	UTSW	10	80058639	nonsense	probably null
R2086:Sbno2	UTSW	10	80057856	missense	possibly damaging	0.89
R2136:Sbno2	UTSW	10	80062693	missense	probably damaging	1.00
R2360:Sbno2	UTSW	10	80058021	missense	possibly damaging	0.81
R4426:Sbno2	UTSW	10	80072358	missense	probably null	0.02
R4504:Sbno2	UTSW	10	80060492	missense	possibly damaging	0.46
R4692:Sbno2	UTSW	10	80086327	missense	possibly damaging	0.90
R5044:Sbno2	UTSW	10	80062188	missense	probably benign	0.11
R5166:Sbno2	UTSW	10	80066928	nonsense	probably null
R5576:Sbno2	UTSW	10	80067337	missense	probably damaging	0.99
R5665:Sbno2	UTSW	10	80058453	missense	probably benign	0.00
R5709:Sbno2	UTSW	10	80086337	start codon destroyed	probably null	0.89
R5828:Sbno2	UTSW	10	80066590	missense	possibly damaging	0.84
R6192:Sbno2	UTSW	10	80060016	missense	probably damaging	0.99
R6971:Sbno2	UTSW	10	80060034	missense	possibly damaging	0.95
R7012:Sbno2	UTSW	10	80069518	intron	probably benign
R7082:Sbno2	UTSW	10	80060090	splice site	probably null
R7133:Sbno2	UTSW	10	80086312	missense	probably damaging	1.00
R7438:Sbno2	UTSW	10	80069575	missense	unknown
R7481:Sbno2	UTSW	10	80057499	missense	probably benign	0.11
R7746:Sbno2	UTSW	10	80058874	missense	probably damaging	0.99
X0026:Sbno2	UTSW	10	80057459	missense	possibly damaging	0.74

Posted On

2014-05-07