Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01800:Sbno1'

155500

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 #

IGL01800

Quality Score

Status

Chromosome

Chromosomal Location

124506765-124564059 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 124519568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000065263

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095

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

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095

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 benign
Transcript: ENSMUST00000199808

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,772,734 (GRCm39)	Y48C	possibly damaging	Het
Acsm3	T	C	7: 119,373,866 (GRCm39)	S251P	possibly damaging	Het
Ano5	G	A	7: 51,222,823 (GRCm39)		probably null	Het
Ccdc65	C	T	15: 98,606,946 (GRCm39)	A51V	probably benign	Het
Cspg5	A	G	9: 110,080,218 (GRCm39)		probably benign	Het
Dhx30	A	G	9: 109,914,581 (GRCm39)	V935A	possibly damaging	Het
Disp3	T	A	4: 148,334,258 (GRCm39)	K1012*	probably null	Het
Dock2	T	C	11: 34,647,100 (GRCm39)	N18S	probably damaging	Het
Dst	A	T	1: 34,301,173 (GRCm39)	I1180F	probably damaging	Het
Elp2	A	G	18: 24,750,548 (GRCm39)	Y295C	probably benign	Het
Eml2	A	G	7: 18,935,122 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,035,878 (GRCm39)	T3177A	probably damaging	Het
Flrt2	A	T	12: 95,746,462 (GRCm39)	I267F	probably damaging	Het
Gm5611	T	G	9: 16,941,767 (GRCm39)		noncoding transcript	Het
Gstcd	A	G	3: 132,790,335 (GRCm39)		probably null	Het
Gucy1b2	T	C	14: 62,649,104 (GRCm39)	M476V	probably benign	Het
Jak2	A	G	19: 29,263,693 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,778,137 (GRCm39)	F85S	probably damaging	Het
Kcnu1	G	A	8: 26,427,528 (GRCm39)	V282M	probably damaging	Het
Lancl1	T	G	1: 67,060,029 (GRCm39)	E132A	probably benign	Het
Or4g7	T	C	2: 111,309,209 (GRCm39)	F27L	probably benign	Het
Or5b106	A	G	19: 13,123,993 (GRCm39)	F10S	probably damaging	Het
Pigm	G	A	1: 172,204,770 (GRCm39)	A169T	probably damaging	Het
Ppargc1a	A	G	5: 51,652,063 (GRCm39)	Y212H	probably damaging	Het
Ppp1r13l	A	T	7: 19,111,936 (GRCm39)		probably benign	Het
Pramel12	T	C	4: 143,145,650 (GRCm39)	L373P	probably damaging	Het
Rictor	T	C	15: 6,804,182 (GRCm39)	I554T	probably damaging	Het
Sesn2	G	T	4: 132,226,418 (GRCm39)	L194I	probably damaging	Het
Slc26a2	A	T	18: 61,334,801 (GRCm39)	Y217*	probably null	Het
Sptbn5	G	T	2: 119,886,908 (GRCm39)		probably benign	Het
Tmem184a	A	T	5: 139,798,899 (GRCm39)	S17T	possibly damaging	Het
Trhr	T	C	15: 44,092,603 (GRCm39)	M280T	possibly damaging	Het
Ube2j1	A	T	4: 33,045,115 (GRCm39)	E129D	probably benign	Het
Ube4b	A	T	4: 149,415,951 (GRCm39)	S3T	probably damaging	Het
Vmn2r49	A	T	7: 9,710,601 (GRCm39)	C710*	probably null	Het
Vmn2r82	C	T	10: 79,192,581 (GRCm39)	R53C	probably benign	Het
Zdhhc2	T	C	8: 40,917,284 (GRCm39)	L227P	probably damaging	Het
Zfp995	A	C	17: 22,099,972 (GRCm39)	H87Q	possibly damaging	Het

Other mutations in Sbno1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Sbno1	APN	5	124,540,268 (GRCm39)	missense	probably damaging	1.00
IGL01154:Sbno1	APN	5	124,548,312 (GRCm39)	missense	probably damaging	1.00
IGL01309:Sbno1	APN	5	124,519,769 (GRCm39)	missense	probably benign	0.41
IGL01330:Sbno1	APN	5	124,530,042 (GRCm39)	missense	probably damaging	1.00
IGL01541:Sbno1	APN	5	124,516,618 (GRCm39)	splice site	probably benign
IGL01987:Sbno1	APN	5	124,542,282 (GRCm39)	missense	probably damaging	1.00
IGL02178:Sbno1	APN	5	124,538,258 (GRCm39)	splice site	probably null
IGL02544:Sbno1	APN	5	124,542,046 (GRCm39)	missense	probably damaging	0.99
IGL02572:Sbno1	APN	5	124,519,740 (GRCm39)	splice site	probably benign
IGL02592:Sbno1	APN	5	124,538,872 (GRCm39)	missense	probably damaging	1.00
IGL03033:Sbno1	APN	5	124,514,213 (GRCm39)	missense	probably damaging	0.97
IGL03089:Sbno1	APN	5	124,525,374 (GRCm39)	splice site	probably benign
IGL03131:Sbno1	APN	5	124,526,668 (GRCm39)	missense	probably damaging	1.00
Decrement	UTSW	5	124,538,910 (GRCm39)	missense	probably damaging	1.00
R0200:Sbno1	UTSW	5	124,522,604 (GRCm39)	missense	probably damaging	1.00
R0217:Sbno1	UTSW	5	124,542,387 (GRCm39)	critical splice acceptor site	probably null
R0233:Sbno1	UTSW	5	124,514,289 (GRCm39)	missense	probably damaging	1.00
R0233:Sbno1	UTSW	5	124,514,289 (GRCm39)	missense	probably damaging	1.00
R0334:Sbno1	UTSW	5	124,524,931 (GRCm39)	missense	possibly damaging	0.79
R0401:Sbno1	UTSW	5	124,548,348 (GRCm39)	missense	probably damaging	0.96
R0608:Sbno1	UTSW	5	124,522,604 (GRCm39)	missense	probably damaging	1.00
R0615:Sbno1	UTSW	5	124,548,202 (GRCm39)	missense	probably damaging	1.00
R0653:Sbno1	UTSW	5	124,524,955 (GRCm39)	missense	possibly damaging	0.79
R0655:Sbno1	UTSW	5	124,514,212 (GRCm39)	missense	possibly damaging	0.95
R1037:Sbno1	UTSW	5	124,531,975 (GRCm39)	missense	possibly damaging	0.92
R1439:Sbno1	UTSW	5	124,522,523 (GRCm39)	splice site	probably benign
R1522:Sbno1	UTSW	5	124,530,675 (GRCm39)	missense	probably damaging	1.00
R1590:Sbno1	UTSW	5	124,522,567 (GRCm39)	missense	possibly damaging	0.55
R1618:Sbno1	UTSW	5	124,542,279 (GRCm39)	missense	probably damaging	1.00
R1671:Sbno1	UTSW	5	124,530,130 (GRCm39)	splice site	probably null
R1779:Sbno1	UTSW	5	124,526,580 (GRCm39)	unclassified	probably benign
R2103:Sbno1	UTSW	5	124,532,000 (GRCm39)	missense	probably damaging	0.98
R2136:Sbno1	UTSW	5	124,525,597 (GRCm39)	splice site	probably null
R2149:Sbno1	UTSW	5	124,540,182 (GRCm39)	splice site	probably null
R2153:Sbno1	UTSW	5	124,516,606 (GRCm39)	missense	probably benign
R2154:Sbno1	UTSW	5	124,516,574 (GRCm39)	missense	probably benign
R2231:Sbno1	UTSW	5	124,543,767 (GRCm39)	missense	probably damaging	1.00
R2879:Sbno1	UTSW	5	124,526,635 (GRCm39)	missense	probably damaging	1.00
R3004:Sbno1	UTSW	5	124,519,771 (GRCm39)	missense	probably damaging	0.96
R3922:Sbno1	UTSW	5	124,519,993 (GRCm39)	missense	probably damaging	1.00
R4061:Sbno1	UTSW	5	124,526,635 (GRCm39)	missense	probably damaging	1.00
R4096:Sbno1	UTSW	5	124,529,983 (GRCm39)	critical splice donor site	probably null
R4612:Sbno1	UTSW	5	124,542,087 (GRCm39)	missense	probably damaging	1.00
R4879:Sbno1	UTSW	5	124,542,087 (GRCm39)	missense	probably damaging	1.00
R4937:Sbno1	UTSW	5	124,512,672 (GRCm39)	missense	possibly damaging	0.93
R4990:Sbno1	UTSW	5	124,538,228 (GRCm39)	missense	probably damaging	1.00
R5341:Sbno1	UTSW	5	124,546,538 (GRCm39)	critical splice donor site	probably null
R5365:Sbno1	UTSW	5	124,519,929 (GRCm39)	frame shift	probably null
R5399:Sbno1	UTSW	5	124,530,804 (GRCm39)	missense	probably benign	0.09
R5704:Sbno1	UTSW	5	124,533,956 (GRCm39)	critical splice donor site	probably null
R5898:Sbno1	UTSW	5	124,524,854 (GRCm39)	intron	probably benign
R6136:Sbno1	UTSW	5	124,516,554 (GRCm39)	missense	probably benign	0.41
R6154:Sbno1	UTSW	5	124,516,542 (GRCm39)	missense	possibly damaging	0.94
R6412:Sbno1	UTSW	5	124,530,777 (GRCm39)	missense	probably damaging	0.99
R6414:Sbno1	UTSW	5	124,533,994 (GRCm39)	missense	probably benign	0.28
R6454:Sbno1	UTSW	5	124,538,910 (GRCm39)	missense	probably damaging	1.00
R7085:Sbno1	UTSW	5	124,519,783 (GRCm39)	missense	possibly damaging	0.83
R7176:Sbno1	UTSW	5	124,530,944 (GRCm39)	missense	probably benign	0.21
R7219:Sbno1	UTSW	5	124,543,722 (GRCm39)	missense	probably benign	0.00
R7535:Sbno1	UTSW	5	124,551,342 (GRCm39)	missense	possibly damaging	0.48
R7673:Sbno1	UTSW	5	124,551,279 (GRCm39)	missense	probably benign
R7692:Sbno1	UTSW	5	124,543,709 (GRCm39)	missense	probably benign	0.35
R7745:Sbno1	UTSW	5	124,530,962 (GRCm39)	missense	probably benign	0.00
R7762:Sbno1	UTSW	5	124,512,729 (GRCm39)	missense	probably benign	0.19
R8012:Sbno1	UTSW	5	124,522,565 (GRCm39)	missense	probably benign	0.43
R8142:Sbno1	UTSW	5	124,546,608 (GRCm39)	missense	probably benign
R8164:Sbno1	UTSW	5	124,512,684 (GRCm39)	missense	probably benign	0.13
R8259:Sbno1	UTSW	5	124,519,759 (GRCm39)	missense	probably damaging	0.99
R8289:Sbno1	UTSW	5	124,542,068 (GRCm39)	missense	probably damaging	1.00
R8717:Sbno1	UTSW	5	124,512,618 (GRCm39)	missense	possibly damaging	0.85
R9045:Sbno1	UTSW	5	124,543,720 (GRCm39)	missense	probably benign	0.14
R9149:Sbno1	UTSW	5	124,519,762 (GRCm39)	missense	probably benign	0.01
R9529:Sbno1	UTSW	5	124,517,413 (GRCm39)	nonsense	probably null
Z1088:Sbno1	UTSW	5	124,542,367 (GRCm39)	missense	probably damaging	0.98
Z1088:Sbno1	UTSW	5	124,532,021 (GRCm39)	missense	possibly damaging	0.91

Posted On

2014-02-04