Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01541:Sbno1'

90175

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 #

IGL01541

Quality Score

Status

Chromosome

Chromosomal Location

124506765-124564059 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 124516618 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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,875,169 (GRCm39)	H668Y	probably benign	Het
Adamts10	A	G	17: 33,762,205 (GRCm39)	S505G	probably benign	Het
Ahnak	C	T	19: 8,985,243 (GRCm39)	H2176Y	possibly damaging	Het
Ash1l	G	T	3: 88,973,572 (GRCm39)	D2544Y	probably damaging	Het
Ccdc88a	T	A	11: 29,350,283 (GRCm39)	F88L	probably benign	Het
Cdc42bpa	A	T	1: 179,978,723 (GRCm39)		probably null	Het
Celsr3	T	C	9: 108,708,907 (GRCm39)	V1251A	probably damaging	Het
CN725425	T	A	15: 91,129,955 (GRCm39)	F273I	possibly damaging	Het
Eif2b1	A	G	5: 124,714,965 (GRCm39)	C104R	probably damaging	Het
Ercc3	A	T	18: 32,381,372 (GRCm39)	D396V	possibly damaging	Het
Fga	A	T	3: 82,940,014 (GRCm39)	D556V	probably damaging	Het
Frg1	C	T	8: 41,863,362 (GRCm39)		probably benign	Het
Fto	T	C	8: 92,136,376 (GRCm39)	Y217H	probably damaging	Het
Garin4	A	T	1: 190,896,606 (GRCm39)	Y12*	probably null	Het
Grin3a	A	T	4: 49,792,533 (GRCm39)	V400E	probably damaging	Het
Gtse1	T	A	15: 85,759,855 (GRCm39)	L682*	probably null	Het
Igkv6-32	A	G	6: 70,051,290 (GRCm39)	I22T	probably benign	Het
Lama1	G	A	17: 68,092,065 (GRCm39)	R1646H	probably benign	Het
Lamp1	T	C	8: 13,215,905 (GRCm39)	C35R	probably damaging	Het
Lzts3	A	T	2: 130,478,126 (GRCm39)	L324Q	probably damaging	Het
Muc6	T	A	7: 141,236,069 (GRCm39)	R453*	probably null	Het
Naa35	T	A	13: 59,748,777 (GRCm39)	H132Q	probably damaging	Het
Pgm5	C	A	19: 24,793,777 (GRCm39)	G296W	probably damaging	Het
Pkd1	T	A	17: 24,805,272 (GRCm39)	C3275S	probably damaging	Het
Podxl2	A	G	6: 88,826,331 (GRCm39)	L325P	probably benign	Het
Prom2	A	G	2: 127,371,050 (GRCm39)		probably null	Het
Rab12	T	C	17: 66,804,404 (GRCm39)	S185G	probably damaging	Het
Rnf43	T	G	11: 87,621,046 (GRCm39)	M313R	probably null	Het
Rusc2	T	C	4: 43,415,840 (GRCm39)	V382A	probably benign	Het
Smg6	T	C	11: 74,816,770 (GRCm39)	I10T	probably benign	Het
Smpd1	T	C	7: 105,205,033 (GRCm39)	F304S	possibly damaging	Het
Spta1	G	A	1: 174,044,725 (GRCm39)	V1454I	probably benign	Het
Tdrd7	A	T	4: 46,018,551 (GRCm39)	I722F	possibly damaging	Het
Topors	T	C	4: 40,262,364 (GRCm39)	T307A	possibly damaging	Het
Ttn	C	T	2: 76,807,502 (GRCm39)	R77Q	probably damaging	Het
Vmn1r210	C	T	13: 23,011,778 (GRCm39)	M169I	probably benign	Het
Zc3h4	A	G	7: 16,168,257 (GRCm39)	S789G	unknown	Het
Zfp629	G	T	7: 127,211,917 (GRCm39)		probably benign	Het
Zfp977	C	A	7: 42,230,156 (GRCm39)	R123I	probably benign	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
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
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

2013-12-03