Mutagenetix > Incidental Mutations

Incidental Mutation 'R6414:Sbno1'

514853

Institutional Source

Beutler Lab

Gene Symbol

Sbno1

Ensembl Gene

ENSMUSG00000038095

Gene Name

strawberry notch 1

Synonyms

9330180L10Rik, sno

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124368702-124426001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124395931 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 661 (S661G)

Ref Sequence

ENSEMBL: ENSMUSP00000143084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000196329] [ENSMUST00000196644] [ENSMUST00000199004] [ENSMUST00000199808] [ENSMUST00000200474]

Predicted Effect

probably benign
Transcript: ENSMUST00000065263
AA Change: S696G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: S696G

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	254	559	3.6e-144	PFAM
Pfam:ResIII	287	478	2.7e-8	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	815	838	N/A	INTRINSIC
coiled coil region	839	868	N/A	INTRINSIC
Pfam:Helicase_C_4	870	1146	3.6e-126	PFAM
low complexity region	1365	1384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168651
AA Change: S695G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: S695G

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	254	559	3.6e-144	PFAM
Pfam:ResIII	287	478	2.7e-8	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	815	838	N/A	INTRINSIC
coiled coil region	839	868	N/A	INTRINSIC
Pfam:Helicase_C_4	870	1146	3.6e-126	PFAM
low complexity region	1365	1384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196329
AA Change: S661G

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095
AA Change: S661G

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
low complexity region	182	199	N/A	INTRINSIC
Pfam:AAA_34	217	525	1.4e-139	PFAM
Pfam:ResIII	254	441	2.4e-8	PFAM
low complexity region	598	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196644
AA Change: S696G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: S696G

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	252	560	4.3e-136	PFAM
Pfam:ResIII	289	476	1.8e-6	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196647

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198285

Predicted Effect

probably benign
Transcript: ENSMUST00000199004

SMART Domains

Protein: ENSMUSP00000143314
Gene: ENSMUSG00000038095

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199808
AA Change: S696G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: S696G

Domain	Start	End	E-Value	Type
low complexity region	217	234	N/A	INTRINSIC
Pfam:AAA_34	252	560	6e-139	PFAM
Pfam:ResIII	289	476	1.3e-7	PFAM
low complexity region	633	649	N/A	INTRINSIC
low complexity region	727	748	N/A	INTRINSIC
low complexity region	779	797	N/A	INTRINSIC
low complexity region	815	838	N/A	INTRINSIC
coiled coil region	839	868	N/A	INTRINSIC
Pfam:Helicase_C_4	870	1146	4.6e-120	PFAM
low complexity region	1365	1384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200474
AA Change: S660G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: S660G

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	181	198	N/A	INTRINSIC
Pfam:AAA_34	218	523	2.3e-141	PFAM
Pfam:ResIII	251	442	3.3e-7	PFAM
low complexity region	597	613	N/A	INTRINSIC
low complexity region	691	712	N/A	INTRINSIC
low complexity region	743	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200674

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,884,336	V367A	probably benign	Het
Alpk1	T	C	3: 127,680,209	D715G	probably benign	Het
Atg101	T	A	15: 101,290,460	C149S	probably benign	Het
Atp2c1	A	T	9: 105,466,656	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,976,131	A360E	probably damaging	Het
Chd3	A	T	11: 69,352,545		probably null	Het
Clcc1	G	A	3: 108,676,851	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,892,266		probably null	Het
Ctnna3	T	C	10: 64,260,865	V394A	probably benign	Het
Ctsll3	A	G	13: 60,800,299	F188S	probably damaging	Het
Cyth4	T	C	15: 78,608,146	V125A	probably damaging	Het
Ddx43	G	A	9: 78,400,936	V131I	probably benign	Het
Elp4	A	G	2: 105,904,443	S16P	possibly damaging	Het
Espl1	T	A	15: 102,315,560	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,090,878	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,920,445	V350D	probably damaging	Het
Frem1	A	G	4: 82,940,536	F1545S	probably damaging	Het
Gata3	T	A	2: 9,858,434	H423L	possibly damaging	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Golt1a	A	T	1: 133,320,294	M87L	probably damaging	Het
Gpr171	A	T	3: 59,098,123	V77E	probably damaging	Het
Hectd2	A	G	19: 36,618,786	D757G	probably benign	Het
Hmmr	A	G	11: 40,715,867		probably null	Het
Il31ra	A	G	13: 112,523,907	V635A	possibly damaging	Het
Lama1	T	C	17: 67,746,910		probably null	Het
Ltbp4	G	A	7: 27,310,715	P1140L	probably damaging	Het
Macf1	A	G	4: 123,493,195	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,108,831	M1L	probably benign	Het
Mex3d	A	G	10: 80,381,371	S671P	unknown	Het
Mrgprb2	C	T	7: 48,552,381	V199I	probably benign	Het
Mroh9	A	T	1: 163,074,702	V114E	probably damaging	Het
Muc5b	A	G	7: 141,859,097	K1927E	unknown	Het
Olfr1275	A	C	2: 111,231,152		probably null	Het
Olfr781	T	A	10: 129,333,709	I276K	probably benign	Het
Otogl	C	T	10: 107,782,050	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,627,381		probably null	Het
Pcdh15	T	A	10: 74,185,426	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,413,845	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 100,255,540	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,100,180		probably benign	Het
Rap1gap2	A	G	11: 74,405,790	L457P	probably damaging	Het
Rasef	C	T	4: 73,740,581	V463M	probably benign	Het
Rb1	T	C	14: 73,282,974	S42G	unknown	Het
Reep3	C	A	10: 67,039,577	V36F	probably damaging	Het
Rhcg	A	G	7: 79,598,968		probably null	Het
Slc25a3	T	G	10: 91,122,328	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,343,805	I395F	probably benign	Het
Slc6a5	C	T	7: 49,910,243		probably benign	Het
Snta1	G	C	2: 154,378,067	T391S	possibly damaging	Het
Spata7	T	C	12: 98,663,220		probably null	Het
Stx17	A	G	4: 48,158,809		probably null	Het
Terf2	A	T	8: 107,076,854	S365T	probably benign	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Trim8	A	T	19: 46,502,907	H155L	probably benign	Het
Wipi2	T	A	5: 142,655,938	V83D	probably damaging	Het
Zfp316	C	A	5: 143,254,884	R460L	possibly damaging	Het
Zfp651	T	G	9: 121,763,659	D348E	probably benign	Het
Zfp799	C	T	17: 32,820,285	V336M	probably damaging	Het
Zfp947	A	T	17: 22,146,414	I93N	probably damaging	Het
Zranb3	A	G	1: 128,040,957	Y74H	probably benign	Het

Other mutations in Sbno1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Sbno1	APN	5	124402205	missense	probably damaging	1.00
IGL01154:Sbno1	APN	5	124410249	missense	probably damaging	1.00
IGL01309:Sbno1	APN	5	124381706	missense	probably benign	0.41
IGL01330:Sbno1	APN	5	124391979	missense	probably damaging	1.00
IGL01541:Sbno1	APN	5	124378555	splice site	probably benign
IGL01800:Sbno1	APN	5	124381505	splice site	probably benign
IGL01987:Sbno1	APN	5	124404219	missense	probably damaging	1.00
IGL02178:Sbno1	APN	5	124400195	splice site	probably null
IGL02544:Sbno1	APN	5	124403983	missense	probably damaging	0.99
IGL02572:Sbno1	APN	5	124381677	splice site	probably benign
IGL02592:Sbno1	APN	5	124400809	missense	probably damaging	1.00
IGL03033:Sbno1	APN	5	124376150	missense	probably damaging	0.97
IGL03089:Sbno1	APN	5	124387311	splice site	probably benign
IGL03131:Sbno1	APN	5	124388605	missense	probably damaging	1.00
Decrement	UTSW	5	124400847	missense	probably damaging	1.00
R0200:Sbno1	UTSW	5	124384541	missense	probably damaging	1.00
R0217:Sbno1	UTSW	5	124404324	critical splice acceptor site	probably null
R0233:Sbno1	UTSW	5	124376226	missense	probably damaging	1.00
R0233:Sbno1	UTSW	5	124376226	missense	probably damaging	1.00
R0334:Sbno1	UTSW	5	124386868	missense	possibly damaging	0.79
R0401:Sbno1	UTSW	5	124410285	missense	probably damaging	0.96
R0608:Sbno1	UTSW	5	124384541	missense	probably damaging	1.00
R0615:Sbno1	UTSW	5	124410139	missense	probably damaging	1.00
R0653:Sbno1	UTSW	5	124386892	missense	possibly damaging	0.79
R0655:Sbno1	UTSW	5	124376149	missense	possibly damaging	0.95
R1037:Sbno1	UTSW	5	124393912	missense	possibly damaging	0.92
R1439:Sbno1	UTSW	5	124384460	splice site	probably benign
R1522:Sbno1	UTSW	5	124392612	missense	probably damaging	1.00
R1590:Sbno1	UTSW	5	124384504	missense	possibly damaging	0.55
R1618:Sbno1	UTSW	5	124404216	missense	probably damaging	1.00
R1671:Sbno1	UTSW	5	124392067	splice site	probably null
R1779:Sbno1	UTSW	5	124388517	unclassified	probably benign
R2103:Sbno1	UTSW	5	124393937	missense	probably damaging	0.98
R2136:Sbno1	UTSW	5	124387534	splice site	probably null
R2149:Sbno1	UTSW	5	124402119	splice site	probably null
R2153:Sbno1	UTSW	5	124378543	missense	probably benign
R2154:Sbno1	UTSW	5	124378511	missense	probably benign
R2231:Sbno1	UTSW	5	124405704	missense	probably damaging	1.00
R2879:Sbno1	UTSW	5	124388572	missense	probably damaging	1.00
R3004:Sbno1	UTSW	5	124381708	missense	probably damaging	0.96
R3922:Sbno1	UTSW	5	124381930	missense	probably damaging	1.00
R4061:Sbno1	UTSW	5	124388572	missense	probably damaging	1.00
R4096:Sbno1	UTSW	5	124391920	critical splice donor site	probably null
R4612:Sbno1	UTSW	5	124404024	missense	probably damaging	1.00
R4879:Sbno1	UTSW	5	124404024	missense	probably damaging	1.00
R4937:Sbno1	UTSW	5	124374609	missense	possibly damaging	0.93
R4990:Sbno1	UTSW	5	124400165	missense	probably damaging	1.00
R5341:Sbno1	UTSW	5	124408475	critical splice donor site	probably null
R5365:Sbno1	UTSW	5	124381866	frame shift	probably null
R5399:Sbno1	UTSW	5	124392741	missense	probably benign	0.09
R5704:Sbno1	UTSW	5	124395893	critical splice donor site	probably null
R5898:Sbno1	UTSW	5	124386791	intron	probably benign
R6136:Sbno1	UTSW	5	124378491	missense	probably benign	0.41
R6154:Sbno1	UTSW	5	124378479	missense	possibly damaging	0.94
R6412:Sbno1	UTSW	5	124392714	missense	probably damaging	0.99
R6454:Sbno1	UTSW	5	124400847	missense	probably damaging	1.00
R7085:Sbno1	UTSW	5	124381720	missense	possibly damaging	0.83
R7176:Sbno1	UTSW	5	124392881	missense	probably benign	0.21
R7219:Sbno1	UTSW	5	124405659	missense	probably benign	0.00
R7535:Sbno1	UTSW	5	124413279	missense	possibly damaging	0.48
R7673:Sbno1	UTSW	5	124413216	missense	probably benign
R7692:Sbno1	UTSW	5	124405646	missense	probably benign	0.35
R7745:Sbno1	UTSW	5	124392899	missense	probably benign	0.00
R7762:Sbno1	UTSW	5	124374666	missense	probably benign	0.19
R8012:Sbno1	UTSW	5	124384502	missense	probably benign	0.43
R8142:Sbno1	UTSW	5	124408545	missense	probably benign
R8164:Sbno1	UTSW	5	124374621	missense	probably benign	0.13
R8259:Sbno1	UTSW	5	124381696	missense	probably damaging	0.99
R8289:Sbno1	UTSW	5	124404005	missense	probably damaging	1.00
Z1088:Sbno1	UTSW	5	124393958	missense	possibly damaging	0.91
Z1088:Sbno1	UTSW	5	124404304	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTCCTAATCAGAGAAGGCAGGG -3'
(R):5'- TTCCACAGGTGCCACATGAAG -3'

Sequencing Primer
(F):5'- ACTCACTATGTAGACCAGGCTGG -3'
(R):5'- TGCTCCAGACAGGAAGAA -3'

Posted On

2018-05-04