Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Sbno1'

54395

Institutional Source

Beutler Lab

Gene Symbol

Sbno1

Ensembl Gene

ENSMUSG00000038095

Gene Name

strawberry notch 1

Synonyms

9330180L10Rik, sno

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124368702-124426001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124384541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1072 (D1072G)

Ref Sequence

ENSEMBL: ENSMUSP00000142481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000199808]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065263
AA Change: D1072G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: D1072G

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 damaging
Transcript: ENSMUST00000168651
AA Change: D1071G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: D1071G

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

noncoding transcript
Transcript: ENSMUST00000196842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199245

Predicted Effect

probably damaging
Transcript: ENSMUST00000199808
AA Change: D1072G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: D1072G

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

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	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
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
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'- TCCAAAGTCATCCACGCGAGTTG -3'
(R):5'- CCATCAAGCCTGTCATTGCTGGAAC -3'

Sequencing Primer
(F):5'- GGGGTTTCTTTAGTGTACAAAAGC -3'
(R):5'- cagatcctcggttatgagtgg -3'

Posted On

2013-07-11