Mutagenetix > Incidental Mutation

Incidental Mutation 'R7082:Sbno2'

568509

Institutional Source

Beutler Lab

Gene Symbol

Sbno2

Ensembl Gene

ENSMUSG00000035673

Gene Name

strawberry notch 2

Synonyms

Stno

MMRRC Submission

045176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79892826-79941405 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 79895924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000097227] [ENSMUST00000105372] [ENSMUST00000183037] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219260]

AlphaFold

Q7TNB8

Predicted Effect

probably null
Transcript: ENSMUST00000042771

SMART Domains

Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673

Domain	Start	End	E-Value	Type
low complexity region	96	112	N/A	INTRINSIC
low complexity region	177	189	N/A	INTRINSIC
Pfam:AAA_34	209	500	8.2e-135	PFAM
Pfam:ResIII	239	419	7.7e-8	PFAM
low complexity region	611	631	N/A	INTRINSIC
Pfam:Helicase_C_4	726	1004	7.5e-120	PFAM
low complexity region	1263	1283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097227

SMART Domains

Protein: ENSMUSP00000094863
Gene: ENSMUSG00000075706

Domain	Start	End	E-Value	Type
low complexity region	2	55	N/A	INTRINSIC
Pfam:GSHPx	97	204	6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105372

SMART Domains

Protein: ENSMUSP00000101011
Gene: ENSMUSG00000075706

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:GSHPx	41	148	1.3e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183037

SMART Domains

Protein: ENSMUSP00000138186
Gene: ENSMUSG00000075706

Domain	Start	End	E-Value	Type
Pfam:GSHPx	1	108	3.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217972

Predicted Effect

probably null
Transcript: ENSMUST00000218630

Predicted Effect

probably null
Transcript: ENSMUST00000219260

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (88/88)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired osteoclast fusion, impaired osteoblastogenesis, osteopetrosis, increased bone mass, and decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,156,260 (GRCm39)	N109Y	unknown	Het
A430005L14Rik	C	T	4: 154,044,221 (GRCm39)	R11W	probably damaging	Het
Aadacl2	T	A	3: 59,932,306 (GRCm39)	S274T	probably damaging	Het
Ahctf1	T	C	1: 179,602,898 (GRCm39)	R887G	probably benign	Het
Aox4	G	T	1: 58,263,352 (GRCm39)	R158L	possibly damaging	Het
Atp10a	T	C	7: 58,308,567 (GRCm39)	I122T	probably damaging	Het
Batf2	G	T	19: 6,221,405 (GRCm39)	A72S	possibly damaging	Het
Bltp3a	G	T	17: 28,109,039 (GRCm39)	R1086L	probably damaging	Het
Bptf	T	C	11: 106,977,573 (GRCm39)	D749G	probably benign	Het
Cacybp	A	G	1: 160,031,229 (GRCm39)	Y200H	probably damaging	Het
Cdc40	A	T	10: 40,743,869 (GRCm39)	V76D	probably benign	Het
Cdc42ep4	T	C	11: 113,619,944 (GRCm39)	D149G	probably benign	Het
Chtop	A	G	3: 90,414,891 (GRCm39)	V9A	probably benign	Het
Cnot9	A	G	1: 74,566,165 (GRCm39)	I185M	probably damaging	Het
Col6a5	A	G	9: 105,808,438 (GRCm39)	I870T	unknown	Het
Cr1l	A	G	1: 194,806,006 (GRCm39)	I159T	probably benign	Het
Cthrc1	T	C	15: 38,940,495 (GRCm39)	S33P	probably benign	Het
Dlg2	T	A	7: 90,381,192 (GRCm39)	W44R	probably benign	Het
Dlgap4	T	C	2: 156,590,342 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,790,096 (GRCm39)	H193R	possibly damaging	Het
Espnl	T	A	1: 91,262,521 (GRCm39)	F322Y	probably benign	Het
Fam171a1	G	A	2: 3,224,512 (GRCm39)	V293I	probably benign	Het
Fam76b	A	G	9: 13,744,308 (GRCm39)	Y135C	probably damaging	Het
Flvcr2	A	T	12: 85,793,728 (GRCm39)	I35F	probably benign	Het
Gm9195	T	A	14: 72,680,152 (GRCm39)	Q2219L	probably benign	Het
Gnptg	T	C	17: 25,453,694 (GRCm39)	T283A	probably benign	Het
Grap2	G	A	15: 80,532,699 (GRCm39)	V289M	probably benign	Het
Hk3	T	C	13: 55,154,710 (GRCm39)	T767A	probably benign	Het
Hs3st5	A	G	10: 36,708,833 (GRCm39)	I123V	probably benign	Het
Il6st	A	G	13: 112,640,566 (GRCm39)	T781A	probably damaging	Het
Inpp5d	T	A	1: 87,623,102 (GRCm39)	H398Q	probably damaging	Het
Kcnk1	A	G	8: 126,722,287 (GRCm39)	Y30C	probably damaging	Het
Klhl6	T	C	16: 19,801,633 (GRCm39)	T41A	probably benign	Het
Krt14	G	A	11: 100,094,167 (GRCm39)	H476Y	possibly damaging	Het
Lingo3	G	C	10: 80,671,625 (GRCm39)	R102G	probably benign	Het
Map3k9	G	A	12: 81,771,476 (GRCm39)	T704M	probably damaging	Het
Mdn1	C	A	4: 32,762,341 (GRCm39)	N5088K	probably benign	Het
Mmp9	T	A	2: 164,790,812 (GRCm39)	S67T	probably benign	Het
Mrps18c	A	G	5: 100,952,270 (GRCm39)	E143G	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Muc21	A	T	17: 35,932,093 (GRCm39)	S698T	unknown	Het
Nags	C	A	11: 102,038,298 (GRCm39)	R335S	possibly damaging	Het
Nars1	A	G	18: 64,637,425 (GRCm39)	V385A	possibly damaging	Het
Nipal2	A	C	15: 34,584,809 (GRCm39)	V253G	possibly damaging	Het
Nos2	C	A	11: 78,819,405 (GRCm39)	T39K	probably benign	Het
Or10p1	T	A	10: 129,443,416 (GRCm39)	*311Y	probably null	Het
Or10p1	T	A	10: 129,443,417 (GRCm39)	*311L	probably null	Het
Or51t4	T	C	7: 102,598,455 (GRCm39)	V261A	probably damaging	Het
Or52s19	C	A	7: 103,007,495 (GRCm39)	R302L	possibly damaging	Het
Or6c66	C	T	10: 129,461,634 (GRCm39)	V99M	probably benign	Het
Or9s15	G	A	1: 92,524,140 (GRCm39)		probably benign	Het
Panx3	G	A	9: 37,577,913 (GRCm39)	P106S	probably benign	Het
Pappa2	G	A	1: 158,590,689 (GRCm39)	T1655I	possibly damaging	Het
Pcdhb1	A	G	18: 37,400,044 (GRCm39)	D665G	probably damaging	Het
Pde2a	T	C	7: 101,157,303 (GRCm39)	L676P	probably damaging	Het
Pf4	A	G	5: 90,920,851 (GRCm39)	T60A	possibly damaging	Het
Pira12	C	T	7: 3,898,510 (GRCm39)	V313M	probably damaging	Het
Pld5	A	T	1: 175,917,442 (GRCm39)	C164S	probably benign	Het
Psd3	A	T	8: 68,356,800 (GRCm39)	M640K	probably benign	Het
Ptf1a	A	G	2: 19,450,676 (GRCm39)	D2G	possibly damaging	Het
Ptprq	C	T	10: 107,544,591 (GRCm39)	C313Y	probably benign	Het
Ranbp10	A	G	8: 106,500,578 (GRCm39)	S467P	probably damaging	Het
Rap1gap	C	T	4: 137,446,247 (GRCm39)	T333M	probably damaging	Het
Rfpl4	A	G	7: 5,118,558 (GRCm39)	L4P	probably benign	Het
Rgs12	A	G	5: 35,124,050 (GRCm39)	N611S	probably benign	Het
Sacs	C	A	14: 61,447,966 (GRCm39)	N3337K	possibly damaging	Het
Scrn2	T	A	11: 96,923,908 (GRCm39)	V264E	possibly damaging	Het
Serpinb9c	T	A	13: 33,338,390 (GRCm39)	I198L	probably benign	Het
Shank2	T	C	7: 143,964,096 (GRCm39)	F568S	probably damaging	Het
Slc47a1	C	T	11: 61,268,767 (GRCm39)	R36Q	probably benign	Het
Slc4a8	A	C	15: 100,688,908 (GRCm39)	E406A	probably damaging	Het
Speg	C	T	1: 75,388,091 (GRCm39)	T1483I	probably damaging	Het
Srbd1	A	G	17: 86,365,160 (GRCm39)	V632A	probably damaging	Het
Srd5a2	A	T	17: 74,328,515 (GRCm39)	Y188N	probably damaging	Het
Sspo	A	T	6: 48,455,543 (GRCm39)		probably null	Het
Ssx2ip	A	T	3: 146,136,703 (GRCm39)	D317V	probably benign	Het
Tmco3	G	T	8: 13,370,847 (GRCm39)	E172*	probably null	Het
Trpc4	G	A	3: 54,206,519 (GRCm39)	W573*	probably null	Het
Ttn	T	C	2: 76,580,340 (GRCm39)	I23518V	probably benign	Het
Tubal3	A	G	13: 3,983,050 (GRCm39)	T277A	possibly damaging	Het
Unc5b	A	T	10: 60,610,867 (GRCm39)	L391H	probably damaging	Het
Vmn2r76	A	G	7: 85,874,440 (GRCm39)	F846L	probably benign	Het
Vps13c	T	A	9: 67,790,735 (GRCm39)	Y338N	probably damaging	Het
Zc3hav1	G	T	6: 38,309,328 (GRCm39)	S498*	probably null	Het
Zfand4	T	A	6: 116,305,337 (GRCm39)		probably null	Het
Zfp451	A	T	1: 33,811,972 (GRCm39)		probably null	Het
Zfp607a	A	T	7: 27,578,183 (GRCm39)	I418F	probably damaging	Het
Zfp612	A	G	8: 110,816,337 (GRCm39)	T515A	probably damaging	Het
Zfp708	G	T	13: 67,219,200 (GRCm39)	L208I	possibly damaging	Het

Other mutations in Sbno2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Sbno2	APN	10	79,900,340 (GRCm39)	splice site	probably benign
IGL01773:Sbno2	APN	10	79,893,665 (GRCm39)	missense	probably damaging	1.00
IGL01869:Sbno2	APN	10	79,896,226 (GRCm39)	critical splice donor site	probably null
IGL01911:Sbno2	APN	10	79,905,458 (GRCm39)	nonsense	probably null
IGL02071:Sbno2	APN	10	79,896,475 (GRCm39)	missense	probably damaging	1.00
IGL02094:Sbno2	APN	10	79,893,479 (GRCm39)	missense	probably benign
IGL02220:Sbno2	APN	10	79,908,202 (GRCm39)	missense	probably benign	0.04
IGL02366:Sbno2	APN	10	79,900,036 (GRCm39)	missense	probably damaging	1.00
IGL02608:Sbno2	APN	10	79,903,236 (GRCm39)	splice site	probably null
IGL03007:Sbno2	APN	10	79,894,384 (GRCm39)	splice site	probably benign
IGL03083:Sbno2	APN	10	79,893,368 (GRCm39)	missense	probably damaging	0.98
IGL03393:Sbno2	APN	10	79,902,735 (GRCm39)	missense	probably damaging	1.00
Narcissus	UTSW	10	79,898,042 (GRCm39)	missense	probably damaging	1.00
psychopomp	UTSW	10	79,895,850 (GRCm39)	missense	probably damaging	0.99
Unsafe	UTSW	10	79,896,049 (GRCm39)	missense	probably damaging	1.00
R0034:Sbno2	UTSW	10	79,894,174 (GRCm39)	splice site	probably benign
R0126:Sbno2	UTSW	10	79,904,687 (GRCm39)	splice site	probably null
R0652:Sbno2	UTSW	10	79,903,128 (GRCm39)	missense	probably damaging	1.00
R0964:Sbno2	UTSW	10	79,920,093 (GRCm39)	missense	possibly damaging	0.75
R1571:Sbno2	UTSW	10	79,896,226 (GRCm39)	critical splice donor site	probably null
R1601:Sbno2	UTSW	10	79,896,326 (GRCm39)	missense	probably damaging	0.98
R1634:Sbno2	UTSW	10	79,896,468 (GRCm39)	missense	possibly damaging	0.73
R1733:Sbno2	UTSW	10	79,894,342 (GRCm39)	missense	possibly damaging	0.92
R1762:Sbno2	UTSW	10	79,902,440 (GRCm39)	missense	probably damaging	1.00
R1832:Sbno2	UTSW	10	79,896,439 (GRCm39)	nonsense	probably null
R1859:Sbno2	UTSW	10	79,894,473 (GRCm39)	nonsense	probably null
R2086:Sbno2	UTSW	10	79,893,690 (GRCm39)	missense	possibly damaging	0.89
R2136:Sbno2	UTSW	10	79,898,527 (GRCm39)	missense	probably damaging	1.00
R2360:Sbno2	UTSW	10	79,893,855 (GRCm39)	missense	possibly damaging	0.81
R4426:Sbno2	UTSW	10	79,908,192 (GRCm39)	missense	probably null	0.02
R4504:Sbno2	UTSW	10	79,896,326 (GRCm39)	missense	possibly damaging	0.46
R4692:Sbno2	UTSW	10	79,922,161 (GRCm39)	missense	possibly damaging	0.90
R5044:Sbno2	UTSW	10	79,898,022 (GRCm39)	missense	probably benign	0.11
R5166:Sbno2	UTSW	10	79,902,762 (GRCm39)	nonsense	probably null
R5576:Sbno2	UTSW	10	79,903,171 (GRCm39)	missense	probably damaging	0.99
R5665:Sbno2	UTSW	10	79,894,287 (GRCm39)	missense	probably benign	0.00
R5709:Sbno2	UTSW	10	79,922,171 (GRCm39)	start codon destroyed	probably null	0.89
R5828:Sbno2	UTSW	10	79,902,424 (GRCm39)	missense	possibly damaging	0.84
R6192:Sbno2	UTSW	10	79,895,850 (GRCm39)	missense	probably damaging	0.99
R6971:Sbno2	UTSW	10	79,895,868 (GRCm39)	missense	possibly damaging	0.95
R7012:Sbno2	UTSW	10	79,905,352 (GRCm39)	intron	probably benign
R7133:Sbno2	UTSW	10	79,922,146 (GRCm39)	missense	probably damaging	1.00
R7438:Sbno2	UTSW	10	79,905,409 (GRCm39)	missense	unknown
R7481:Sbno2	UTSW	10	79,893,333 (GRCm39)	missense	probably benign	0.11
R7746:Sbno2	UTSW	10	79,894,708 (GRCm39)	missense	probably damaging	0.99
R7964:Sbno2	UTSW	10	79,904,185 (GRCm39)	missense	probably damaging	1.00
R8055:Sbno2	UTSW	10	79,905,265 (GRCm39)	missense	possibly damaging	0.81
R8221:Sbno2	UTSW	10	79,905,845 (GRCm39)	missense	probably benign
R8329:Sbno2	UTSW	10	79,900,221 (GRCm39)	missense	probably damaging	1.00
R8725:Sbno2	UTSW	10	79,911,090 (GRCm39)	missense	probably benign	0.09
R8727:Sbno2	UTSW	10	79,911,090 (GRCm39)	missense	probably benign	0.09
R8840:Sbno2	UTSW	10	79,893,360 (GRCm39)	missense	probably damaging	0.97
R8932:Sbno2	UTSW	10	79,898,042 (GRCm39)	missense	probably damaging	1.00
R8954:Sbno2	UTSW	10	79,893,796 (GRCm39)	missense	probably damaging	1.00
R9003:Sbno2	UTSW	10	79,896,049 (GRCm39)	missense	probably damaging	1.00
R9034:Sbno2	UTSW	10	79,898,591 (GRCm39)	missense	probably damaging	1.00
X0026:Sbno2	UTSW	10	79,893,293 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TAACAGACACAGTGGGCCTC -3'
(R):5'- AGCATAAGGTTTTCCCTCGCAG -3'

Sequencing Primer
(F):5'- ACACAGTGGGCCTCAGATG -3'
(R):5'- GGTTTTCCCTCGCAGACATGAAG -3'

Posted On

2019-08-09