Mutagenetix > Incidental Mutation

Incidental Mutation 'R4096:Sbno1'

317129

Institutional Source

Beutler Lab

Gene Symbol

Sbno1

Ensembl Gene

ENSMUSG00000038095

Gene Name

strawberry notch 1

Synonyms

9330180L10Rik, sno

MMRRC Submission

041629-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4096 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124506765-124564059 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 124529983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142481 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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

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

SMART Domains

Protein: ENSMUSP00000142827
Gene: ENSMUSG00000038095

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

probably null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198285

Predicted Effect

probably benign
Transcript: ENSMUST00000200474

SMART Domains

Protein: ENSMUSP00000143516
Gene: ENSMUSG00000038095

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

Meta Mutation Damage Score

0.9596

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,008 (GRCm39)	D255G	possibly damaging	Het
4930407I10Rik	G	A	15: 81,946,406 (GRCm39)	G101D	probably benign	Het
Angpt2	G	A	8: 18,748,111 (GRCm39)	A383V	probably damaging	Het
Cemip2	G	T	19: 21,770,016 (GRCm39)	M1I	probably null	Het
Ctns	A	G	11: 73,077,212 (GRCm39)	M252T	probably benign	Het
Dmxl1	T	A	18: 50,094,264 (GRCm39)	H2913Q	probably damaging	Het
Enox1	C	T	14: 77,815,160 (GRCm39)	T106M	probably damaging	Het
Ext1	A	T	15: 52,936,753 (GRCm39)	V664E	probably damaging	Het
Fat4	A	T	3: 38,942,024 (GRCm39)	T306S	possibly damaging	Het
Fbxl5	T	C	5: 43,915,583 (GRCm39)	I610V	probably benign	Het
Glb1l	T	A	1: 75,186,084 (GRCm39)	M1L	probably benign	Het
Hmcn1	T	C	1: 150,534,259 (GRCm39)	K3005R	probably benign	Het
Homer2	A	G	7: 81,261,052 (GRCm39)		probably null	Het
Il36b	C	T	2: 24,048,826 (GRCm39)	T77M	possibly damaging	Het
Kcnq3	C	A	15: 66,157,664 (GRCm39)		probably null	Het
Mad1l1	C	T	5: 140,293,428 (GRCm39)	R130H	probably benign	Het
Man2b1	A	G	8: 85,811,366 (GRCm39)	E120G	probably damaging	Het
Mtus1	T	C	8: 41,537,284 (GRCm39)	D144G	probably damaging	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or5m10	T	C	2: 85,717,767 (GRCm39)	S208P	probably damaging	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Rrp12	A	G	19: 41,875,587 (GRCm39)	I252T	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc10a4-ps	A	G	5: 72,743,709 (GRCm39)	L3P	probably damaging	Het
Slc28a2b	A	G	2: 122,353,209 (GRCm39)	Y463C	probably damaging	Het
Srpk2	A	T	5: 23,745,500 (GRCm39)		probably benign	Het
Ube3b	A	G	5: 114,531,147 (GRCm39)	T214A	possibly damaging	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zpld1	C	G	16: 55,053,881 (GRCm39)	D304H	probably 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
IGL01800:Sbno1	APN	5	124,519,568 (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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCAAAGGTTCTCACGCAC -3'
(R):5'- GTCACATCCGTGTTTCATGC -3'

Sequencing Primer
(F):5'- GTTCAAAGGTTCTCACGCACAATAC -3'
(R):5'- ATGCTCCCAGCCAATTTTCTTAAAAC -3'

Posted On

2015-05-15