Mutagenetix > Incidental Mutation

Incidental Mutation 'R2103:Sbno1'

230673

Institutional Source

Beutler Lab

Gene Symbol

Sbno1

Ensembl Gene

ENSMUSG00000038095

Gene Name

strawberry notch 1

Synonyms

9330180L10Rik, sno

MMRRC Submission

040107-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124368702-124426001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124393937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 727 (S727R)

Ref Sequence

ENSEMBL: ENSMUSP00000142481 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065263
AA Change: S727R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: S727R

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

possibly damaging
Transcript: ENSMUST00000168651
AA Change: S726R

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: S726R

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

SMART Domains

Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095

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: S727R

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: S727R

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: ENSMUST00000197228

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 damaging
Transcript: ENSMUST00000199808
AA Change: S727R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: S727R

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: S691R

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: S691R

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 60,039,814	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,972,606	M314K	probably damaging	Het
Agmat	A	T	4: 141,755,903	D216V	probably damaging	Het
Aida	A	T	1: 183,313,692	E107D	probably benign	Het
Ano5	A	G	7: 51,537,813	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816	D95V	probably damaging	Het
Aspm	G	A	1: 139,491,665	V3023M	probably damaging	Het
Atg16l2	A	G	7: 101,290,361		probably null	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
B3galt5	A	T	16: 96,316,025	K286M	probably damaging	Het
Best3	A	C	10: 117,002,594	I186L	probably benign	Het
Blm	G	T	7: 80,505,949		probably null	Het
Cat	A	T	2: 103,463,315	D389E	probably damaging	Het
Cluh	C	A	11: 74,659,529	C222*	probably null	Het
Cntnap2	G	A	6: 47,298,588	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,449,940	D1320V	unknown	Het
Col4a3bp	T	A	13: 96,634,886	N550K	probably damaging	Het
Cpne7	A	G	8: 123,127,437	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,575,050	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,571,964	K434M	probably damaging	Het
Dpyd	G	C	3: 119,064,952	S605T	probably benign	Het
Dst	A	G	1: 34,190,258	T1986A	probably benign	Het
Ebf2	T	A	14: 67,387,942	V233D	probably damaging	Het
Ecm2	A	G	13: 49,530,256	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560	C611*	probably null	Het
Epop	T	C	11: 97,628,654	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,771,646	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,332	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,583,656	D262G	probably damaging	Het
Gm9507	T	A	10: 77,811,666		probably benign	Het
Grin2b	A	T	6: 135,780,140	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,334,304	I155V	probably benign	Het
Hectd4	C	A	5: 121,355,629	D3811E	probably benign	Het
Herc4	T	C	10: 63,246,110	S71P	probably benign	Het
Hhipl1	A	G	12: 108,327,718	T628A	probably benign	Het
Hoga1	A	C	19: 42,060,020		probably null	Het
Igf2bp1	A	G	11: 95,975,296	V122A	probably damaging	Het
Il10ra	C	A	9: 45,255,811	A481S	probably benign	Het
Klk1b26	A	T	7: 44,016,900	T256S	probably damaging	Het
Kndc1	C	T	7: 139,921,234	T813I	probably benign	Het
Limch1	A	G	5: 66,998,729	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,500,261	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,015,893	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712	L3555Q	possibly damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Mei1	G	T	15: 82,107,036	V472F	probably damaging	Het
Mrps34	T	A	17: 24,895,490		probably null	Het
Myom3	A	G	4: 135,776,412	T391A	probably benign	Het
Nfib	G	A	4: 82,330,408	T314I	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502	V172A	possibly damaging	Het
Olfr459	A	G	6: 41,772,005	I98T	probably benign	Het
Olfr498	A	G	7: 108,465,603	N93S	probably benign	Het
Olfr774	T	C	10: 129,238,499	S117P	probably damaging	Het
Pdia3	G	C	2: 121,433,993	G346A	probably damaging	Het
Plce1	T	C	19: 38,777,924	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,321,653		probably null	Het
Psma6	T	C	12: 55,408,057	I57T	probably benign	Het
Psme2	A	T	14: 55,590,840		probably null	Het
Reln	A	T	5: 21,969,360	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Serpina3m	C	A	12: 104,389,699	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339	F304L	probably benign	Het
Slc4a5	A	C	6: 83,224,681	D4A	probably benign	Het
Slc4a5	G	A	6: 83,297,378	A1076T	probably benign	Het
Slpi	C	T	2: 164,355,543	C28Y	probably damaging	Het
Sptan1	T	C	2: 30,030,471	S2320P	probably damaging	Het
Stim2	A	G	5: 54,105,249	T278A	possibly damaging	Het
Sympk	T	A	7: 19,054,116	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,649,419	D387G	probably benign	Het
Tns2	A	T	15: 102,112,665		probably null	Het
Tnxb	A	G	17: 34,682,251	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,373,293	S41P	possibly damaging	Het
Trim36	T	C	18: 46,196,082	N85S	probably benign	Het
Trpm6	A	T	19: 18,796,284	H380L	probably benign	Het
Tssk4	A	G	14: 55,651,540	I174M	probably damaging	Het
Ttn	C	T	2: 76,946,391		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r4	T	A	3: 64,415,283	N5I	possibly damaging	Het
Vps11	G	A	9: 44,359,227	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468	T476A	possibly damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Vwf	G	A	6: 125,646,330	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,378	S447T	unknown	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Zfp874a	T	A	13: 67,442,504	I354F	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
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
R6414:Sbno1	UTSW	5	124395931	missense	probably benign	0.28
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
R8717:Sbno1	UTSW	5	124374555	missense	possibly damaging	0.85
R9045:Sbno1	UTSW	5	124405657	missense	probably benign	0.14
R9149:Sbno1	UTSW	5	124381699	missense	probably benign	0.01
R9529:Sbno1	UTSW	5	124379350	nonsense	probably null
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'- CTAACATGGCAAGGCGTCAG -3'
(R):5'- GACACAGTAGGTCTTTAGAAACAC -3'

Sequencing Primer
(F):5'- GGCGTCAGTGAAATAACTCAC -3'
(R):5'- GAGACCCTCTTGCTCTACAGAG -3'

Posted On

2014-09-18