Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03083:Sbno2'

417963

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 non essential (E-score: 0.413) question?

Stock #

IGL03083

Quality Score

Status

Chromosome

Chromosomal Location

80056992-80105571 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80057534 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1311 (M1311K)

Ref Sequence

ENSEMBL: ENSMUSP00000151590 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042771
AA Change: M1311K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: M1311K

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: ENSMUST00000145703

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 benign
Transcript: ENSMUST00000218630

Predicted Effect

probably damaging
Transcript: ENSMUST00000219260
AA Change: M1311K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,138,612		probably null	Het
Acadsb	A	C	7: 131,441,193		probably benign	Het
Ankk1	A	G	9: 49,421,866	L106P	probably benign	Het
Ankrd24	G	A	10: 81,638,649	A72T	probably benign	Het
Ankrd35	A	T	3: 96,684,801	Q801L	probably damaging	Het
Avil	A	G	10: 127,016,324	I659M	probably benign	Het
Ccnc	A	G	4: 21,742,683	D170G	possibly damaging	Het
Cfap57	T	C	4: 118,584,739	K711E	probably damaging	Het
Dctn1	T	C	6: 83,197,484		probably benign	Het
Dpp6	T	C	5: 27,709,550		probably null	Het
Efhb	A	T	17: 53,399,059	W817R	probably damaging	Het
Emilin3	G	A	2: 160,908,729	Q320*	probably null	Het
Fer1l4	A	G	2: 156,039,366		probably benign	Het
Fgf8	T	C	19: 45,737,228	N137S	probably damaging	Het
Fndc3b	T	C	3: 27,467,427	D533G	probably benign	Het
Fshb	A	G	2: 107,057,467	V69A	probably benign	Het
Galnt7	A	T	8: 57,526,189	H633Q	probably damaging	Het
Gm5458	A	G	14: 19,602,383		probably null	Het
Hfe2	T	A	3: 96,528,606	D393E	probably benign	Het
Hpca	A	C	4: 129,118,526	F72L	probably damaging	Het
Inpp5d	A	T	1: 87,711,141	D552V	probably damaging	Het
Lepr	C	T	4: 101,814,679	Q967*	probably null	Het
Lgr5	A	G	10: 115,453,032	V497A	probably benign	Het
Matr3	A	G	18: 35,572,418	K132R	probably damaging	Het
Mib1	T	G	18: 10,752,029		probably null	Het
Mios	T	A	6: 8,215,156	N117K	probably damaging	Het
Nab1	T	C	1: 52,490,270	D156G	probably benign	Het
Nfxl1	C	T	5: 72,540,662		probably benign	Het
Nutm2	G	A	13: 50,467,444	G15E	probably damaging	Het
Oca2	A	G	7: 56,295,484	H280R	probably benign	Het
Olfr118	C	A	17: 37,672,660	C212*	probably null	Het
Olfr464	T	C	11: 87,914,088	I273V	probably benign	Het
P2ry1	A	G	3: 61,004,315	T292A	probably benign	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pidd1	A	G	7: 141,440,456		probably null	Het
Pitpnm2	T	C	5: 124,133,382	E376G	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polr2a	T	C	11: 69,745,046		probably null	Het
Senp7	A	G	16: 56,171,865	N701S	probably benign	Het
Sirpa	T	A	2: 129,629,928	I211N	probably damaging	Het
Slc9a4	A	G	1: 40,629,402	E735G	probably benign	Het
Sorbs1	C	T	19: 40,314,376	M790I	probably damaging	Het
Sult1e1	T	A	5: 87,590,124	M33L	probably benign	Het
Tapbpl	G	A	6: 125,228,228		probably null	Het
Top1	A	G	2: 160,703,578	T289A	probably damaging	Het
Trim58	T	A	11: 58,651,390	M392K	probably benign	Het
Uaca	A	G	9: 60,863,663	I371V	probably benign	Het
Vmn1r54	T	C	6: 90,269,872	I256T	possibly damaging	Het
Wdr19	T	C	5: 65,230,976	I668T	probably benign	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
IGL02071:Sbno2	APN	10	80060641	missense	probably damaging	1.00
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
IGL03393:Sbno2	APN	10	80066901	missense	probably damaging	1.00
psychopomp	UTSW	10	80060016	missense	probably damaging	0.99
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
R7964:Sbno2	UTSW	10	80068351	missense	probably damaging	1.00
R8055:Sbno2	UTSW	10	80069431	missense	possibly damaging	0.81
R8221:Sbno2	UTSW	10	80070011	missense	probably benign
R8329:Sbno2	UTSW	10	80064387	missense	probably damaging	1.00
X0026:Sbno2	UTSW	10	80057459	missense	possibly damaging	0.74

Posted On

2016-08-02