Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Sbno1'

380464

Institutional Source

Beutler Lab

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 #

R4937 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

124506765-124564059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124512672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1366 (S1366P)

Ref Sequence

ENSEMBL: ENSMUSP00000142481 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065263
AA Change: S1366P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066808
Gene: ENSMUSG00000038095
AA Change: S1366P

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: S1365P

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130860
Gene: ENSMUSG00000038095
AA Change: S1365P

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

possibly damaging
Transcript: ENSMUST00000199808
AA Change: S1366P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142481
Gene: ENSMUSG00000038095
AA Change: S1366P

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,067 (GRCm39)	F597S	probably benign	Het
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abca16	G	T	7: 120,126,309 (GRCm39)	C1155F	probably damaging	Het
Adam26a	T	C	8: 44,021,918 (GRCm39)	D524G	probably damaging	Het
Adamts20	G	C	15: 94,277,656 (GRCm39)	H269D	probably benign	Het
Akap9	T	A	5: 4,100,145 (GRCm39)		probably null	Het
Akt3	T	C	1: 176,877,693 (GRCm39)	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,189,376 (GRCm39)	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974 (GRCm39)	S105P	probably benign	Het
Amph	A	G	13: 19,288,515 (GRCm39)	T335A	probably damaging	Het
Ank2	C	T	3: 126,756,050 (GRCm39)	V1056M	probably damaging	Het
Apoh	A	G	11: 108,298,204 (GRCm39)	D168G	probably benign	Het
Arfgef3	C	T	10: 18,465,454 (GRCm39)	A2130T	probably damaging	Het
Arhgap30	A	G	1: 171,230,897 (GRCm39)	D218G	probably benign	Het
Ascc3	C	T	10: 50,699,894 (GRCm39)	P1906S	probably damaging	Het
Atp11b	T	G	3: 35,861,157 (GRCm39)		probably null	Het
B4galnt2	A	G	11: 95,759,255 (GRCm39)	V343A	probably damaging	Het
Barhl1	T	C	2: 28,799,785 (GRCm39)	Y280C	probably damaging	Het
Bcar1	A	T	8: 112,447,669 (GRCm39)	Y103N	probably damaging	Het
Bid	A	G	6: 120,872,707 (GRCm39)	I150T	probably benign	Het
Ccdc171	T	C	4: 83,467,876 (GRCm39)	S74P	probably damaging	Het
Ccni	A	T	5: 93,336,113 (GRCm39)		probably null	Het
Cct8l1	A	G	5: 25,721,891 (GRCm39)	E202G	probably benign	Het
Cd200r3	A	G	16: 44,774,622 (GRCm39)	K212E	probably benign	Het
Cdh19	A	G	1: 110,817,694 (GRCm39)	S683P	probably damaging	Het
Ces2b	A	T	8: 105,559,413 (GRCm39)	H93L	probably benign	Het
Cimip2b	T	A	4: 43,427,514 (GRCm39)	Q270L	possibly damaging	Het
Clec4a1	G	A	6: 122,907,654 (GRCm39)	C114Y	probably damaging	Het
Dcc	G	T	18: 71,675,320 (GRCm39)	S636*	probably null	Het
Dcdc2c	T	C	12: 28,580,472 (GRCm39)	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,164,657 (GRCm39)	E150*	probably null	Het
Dhx30	A	G	9: 109,915,029 (GRCm39)	L884P	probably damaging	Het
Dmwd	T	G	7: 18,815,228 (GRCm39)		probably null	Het
Dnah17	T	A	11: 117,932,980 (GRCm39)	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,392,633 (GRCm39)	S447N	probably benign	Het
Elk4	G	A	1: 131,945,419 (GRCm39)	G99D	probably damaging	Het
Entpd1	A	T	19: 40,727,965 (GRCm39)		probably benign	Het
Fam114a1	T	A	5: 65,137,070 (GRCm39)	D4E	probably damaging	Het
Fbln2	A	G	6: 91,241,681 (GRCm39)	D754G	probably damaging	Het
Fhip2a	T	C	19: 57,367,069 (GRCm39)	V204A	probably benign	Het
Foxred2	T	C	15: 77,840,035 (GRCm39)	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591 (GRCm39)		probably benign	Het
Gm1818	G	A	12: 48,606,607 (GRCm39)		noncoding transcript	Het
Gm4894	C	A	9: 49,190,000 (GRCm39)	Q92K	unknown	Het
Gpx2	T	C	12: 76,839,574 (GRCm39)	I141M	probably benign	Het
Gusb	T	C	5: 130,024,326 (GRCm39)	T476A	probably damaging	Het
Hmmr	G	A	11: 40,612,667 (GRCm39)	T180I	possibly damaging	Het
Itgbl1	T	C	14: 124,210,780 (GRCm39)	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,187,951 (GRCm39)	C93*	probably null	Het
Ldaf1	T	C	7: 119,715,535 (GRCm39)	S120P	probably damaging	Het
Lpar3	A	G	3: 145,990,506 (GRCm39)	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,692,897 (GRCm39)		probably null	Het
Lrrc63	C	T	14: 75,322,389 (GRCm39)	G572S	probably damaging	Het
Mapk11	A	T	15: 89,030,685 (GRCm39)	D98E	probably benign	Het
Mgat4f	T	A	1: 134,317,714 (GRCm39)	M162K	probably benign	Het
Net1	G	A	13: 3,934,905 (GRCm39)	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005 (GRCm38)		noncoding transcript	Het
Nrap	T	A	19: 56,335,652 (GRCm39)	Y923F	probably damaging	Het
Or13a20	T	A	7: 140,232,534 (GRCm39)	M214K	probably benign	Het
Or4c108	T	A	2: 88,803,834 (GRCm39)	I134F	probably damaging	Het
Or6c215	A	T	10: 129,637,932 (GRCm39)	V154E	probably benign	Het
Plxnc1	A	G	10: 94,677,335 (GRCm39)	V964A	probably damaging	Het
Pmfbp1	A	G	8: 110,262,498 (GRCm39)	I731V	probably benign	Het
Polq	T	A	16: 36,848,274 (GRCm39)	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,811,620 (GRCm39)	D387G	probably benign	Het
Pramel25	T	C	4: 143,520,407 (GRCm39)	V53A	possibly damaging	Het
Prmt2	G	A	10: 76,056,842 (GRCm39)	T227I	probably damaging	Het
Psmd1	T	A	1: 86,010,947 (GRCm39)	F341I	probably damaging	Het
Ptpn23	T	C	9: 110,221,806 (GRCm39)	M127V	probably benign	Het
Ptprc	A	G	1: 138,017,238 (GRCm39)	F483L	probably damaging	Het
Rab35	A	C	5: 115,778,147 (GRCm39)	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,548,143 (GRCm39)	T486A	probably damaging	Het
Rgl3	A	T	9: 21,899,004 (GRCm39)	C68*	probably null	Het
Rilpl1	T	C	5: 124,653,594 (GRCm39)	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,393,520 (GRCm39)	I354V	probably benign	Het
Rspo3	T	C	10: 29,382,524 (GRCm39)	D50G	probably damaging	Het
Sema3c	A	G	5: 17,899,684 (GRCm39)	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,436,935 (GRCm39)	Y85F	probably benign	Het
Shprh	C	T	10: 11,032,863 (GRCm39)	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,388,103 (GRCm39)	S110P	probably benign	Het
Slc16a12	T	A	19: 34,652,643 (GRCm39)	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,109,268 (GRCm39)	S221P	probably damaging	Het
Slc35b3	A	T	13: 39,116,887 (GRCm39)	I366K	possibly damaging	Het
Slc44a5	T	C	3: 153,949,252 (GRCm39)		probably null	Het
Slc5a12	A	T	2: 110,450,753 (GRCm39)	D316V	probably damaging	Het
Ssr3	A	G	3: 65,299,874 (GRCm39)	S29P	probably damaging	Het
Taf2	G	A	15: 54,890,619 (GRCm39)	Q1055*	probably null	Het
Them6	A	T	15: 74,593,367 (GRCm39)	D75V	probably damaging	Het
Tom1l2	A	G	11: 60,149,744 (GRCm39)	S239P	probably damaging	Het
Tspear	A	G	10: 77,710,877 (GRCm39)	T500A	probably damaging	Het
Tubgcp6	G	A	15: 88,985,752 (GRCm39)	A1487V	probably damaging	Het
Uba7	G	A	9: 107,856,190 (GRCm39)	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147 (GRCm39)	C901*	probably null	Het
Vmn1r172	A	T	7: 23,359,312 (GRCm39)	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,215,010 (GRCm39)	Y331F	probably benign	Het
Wdr55	G	A	18: 36,895,451 (GRCm39)	V143I	probably benign	Het
Zbtb49	A	T	5: 38,371,307 (GRCm39)	D191E	possibly damaging	Het
Zfhx4	A	G	3: 5,307,071 (GRCm39)	H99R	probably damaging	Het
Zfp1005	C	T	2: 150,110,680 (GRCm39)	H457Y	unknown	Het
Zfp560	C	T	9: 20,259,263 (GRCm39)	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,478,354 (GRCm39)	A177V	probably benign	Het
Zfp653	C	T	9: 21,967,074 (GRCm39)	E604K	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
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
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'- CCAAGTTAACTAGAGAGCACAACTG -3'
(R):5'- CTTGAGTTCAATGCGGGCTG -3'

Sequencing Primer
(F):5'- ATGCTCTCACAGCACTCA -3'
(R):5'- GTTCAATGCGGGCTGCCTATC -3'

Posted On

2016-04-15