Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Sbno1'

51213

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sbno1

Ensembl Gene

ENSMUSG00000038095

Gene Name

strawberry notch 1

Synonyms

9330180L10Rik, sno

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

124368702-124426001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124410249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 87 (I87N)

Ref Sequence

ENSEMBL: ENSMUSP00000142416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065263] [ENSMUST00000168651] [ENSMUST00000196329] [ENSMUST00000196644] [ENSMUST00000196711] [ENSMUST00000197777] [ENSMUST00000198420] [ENSMUST00000199004] [ENSMUST00000199808] [ENSMUST00000200474]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065263
AA Change: I123N

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: I123N

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: I122N

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: I122N

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: ENSMUST00000196329
AA Change: I88N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143084
Gene: ENSMUSG00000038095
AA Change: I88N

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

possibly damaging
Transcript: ENSMUST00000196644
AA Change: I123N

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095
AA Change: I123N

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

probably damaging
Transcript: ENSMUST00000196711
AA Change: I88N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142980
Gene: ENSMUSG00000038095
AA Change: I88N

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
low complexity region	182	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197777

Predicted Effect

probably damaging
Transcript: ENSMUST00000198420
AA Change: I87N

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

SMART Domains

Protein: ENSMUSP00000142416
Gene: ENSMUSG00000038095
AA Change: I87N

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000199004
AA Change: I123N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143314
Gene: ENSMUSG00000038095
AA Change: I123N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199808
AA Change: I123N

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: I123N

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

possibly damaging
Transcript: ENSMUST00000200474
AA Change: I87N

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095
AA Change: I87N

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Sbno1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Sbno1	APN	5	124402205	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
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

Posted On

2013-06-21