Mutagenetix > Incidental Mutation

Incidental Mutation 'R2136:Sbno2'

235826

Institutional Source

Beutler Lab

Gene Symbol

Sbno2

Ensembl Gene

ENSMUSG00000035673

Gene Name

strawberry notch 2

Synonyms

Stno

MMRRC Submission

040139-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79892826-79941405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79898527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 645 (I645N)

Ref Sequence

ENSEMBL: ENSMUSP00000151854 (fasta)

Gene Model

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

AlphaFold

Q7TNB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042771
AA Change: I645N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: I645N

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

noncoding transcript
Transcript: ENSMUST00000217876

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217972
AA Change: I629N

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218462

Predicted Effect

probably damaging
Transcript: ENSMUST00000218630
AA Change: I645N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219260
AA Change: I645N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	G	16: 19,702,530 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Abcg3	G	A	5: 105,114,680 (GRCm39)	S279L	probably benign	Het
Acap3	T	C	4: 155,981,369 (GRCm39)	L85P	probably damaging	Het
Adgrl3	A	G	5: 81,660,101 (GRCm39)	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,780,674 (GRCm39)	T1909A	probably benign	Het
Asap1	T	C	15: 63,982,808 (GRCm39)	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,795,552 (GRCm39)	L702Q	possibly damaging	Het
Bsn	A	G	9: 107,990,430 (GRCm39)	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,903,248 (GRCm39)	E48G	probably benign	Het
Cdadc1	T	C	14: 59,805,493 (GRCm39)		probably null	Het
Cfap65	C	CA	1: 74,956,432 (GRCm39)		probably null	Het
Cln3	A	C	7: 126,181,971 (GRCm39)	S30R	probably benign	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Crb1	A	T	1: 139,265,163 (GRCm39)	V85E	probably benign	Het
Crocc	G	A	4: 140,760,265 (GRCm39)	R789W	probably damaging	Het
Cwh43	A	G	5: 73,572,397 (GRCm39)	I212V	probably benign	Het
Cyp2t4	C	A	7: 26,857,585 (GRCm39)	F391L	probably benign	Het
Dhx35	G	T	2: 158,673,781 (GRCm39)	R404L	probably damaging	Het
Disp1	A	G	1: 182,869,942 (GRCm39)	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Ep300	T	A	15: 81,524,648 (GRCm39)	Y1393N	unknown	Het
Fap	C	T	2: 62,354,551 (GRCm39)	G446D	possibly damaging	Het
Fat3	A	G	9: 16,288,347 (GRCm39)	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glipr1l1	T	C	10: 111,896,381 (GRCm39)	V56A	probably damaging	Het
Grsf1	A	G	5: 88,820,517 (GRCm39)	V7A	probably benign	Het
Hmcn1	G	A	1: 150,509,410 (GRCm39)	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,322,023 (GRCm39)	I569N	probably damaging	Het
Irs1	G	T	1: 82,267,763 (GRCm39)	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,128,094 (GRCm39)	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,181,207 (GRCm39)	L210P	probably damaging	Het
Lifr	C	A	15: 7,211,338 (GRCm39)	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,020,454 (GRCm39)	V201A	probably benign	Het
Mark1	A	G	1: 184,651,770 (GRCm39)	V135A	probably damaging	Het
Mical2	T	A	7: 111,870,722 (GRCm39)	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,275,000 (GRCm39)	Y434H	probably damaging	Het
Myh10	C	A	11: 68,695,540 (GRCm39)	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,382,174 (GRCm39)	T1400I	probably null	Het
Or1j11	A	G	2: 36,311,950 (GRCm39)	D180G	probably damaging	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or4b13	A	C	2: 90,082,597 (GRCm39)	V245G	probably damaging	Het
Or4f4b	T	C	2: 111,313,961 (GRCm39)	V62A	probably damaging	Het
Or4p7	T	A	2: 88,221,663 (GRCm39)	I24N	probably benign	Het
Or5d43	T	C	2: 88,104,584 (GRCm39)	K270E	probably damaging	Het
Or5e1	G	A	7: 108,354,430 (GRCm39)	M122I	possibly damaging	Het
Osmr	T	A	15: 6,881,943 (GRCm39)	Q67L	probably damaging	Het
Pan2	T	G	10: 128,149,506 (GRCm39)	V522G	possibly damaging	Het
Pard3	T	G	8: 128,103,366 (GRCm39)		probably null	Het
Pcdhgc5	G	T	18: 37,953,166 (GRCm39)	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,303,967 (GRCm39)	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,680,487 (GRCm39)		probably null	Het
Prdm4	G	A	10: 85,729,215 (GRCm39)	R731*	probably null	Het
Prdx6b	T	A	2: 80,123,507 (GRCm39)	D105E	probably damaging	Het
Prss3b	A	G	6: 41,012,396 (GRCm39)	F6S	probably benign	Het
Rab42	A	G	4: 132,029,790 (GRCm39)	L144P	probably damaging	Het
Ralbp1	T	A	17: 66,171,661 (GRCm39)	K104M	probably damaging	Het
Resf1	T	A	6: 149,230,320 (GRCm39)	I1122K	probably benign	Het
Rrp12	A	G	19: 41,881,038 (GRCm39)	V131A	probably damaging	Het
Sbno1	C	T	5: 124,525,597 (GRCm39)		probably null	Het
Scfd2	T	C	5: 74,367,028 (GRCm39)	K624R	probably benign	Het
Sgk2	C	A	2: 162,841,099 (GRCm39)		probably null	Het
Sirt4	A	G	5: 115,617,760 (GRCm39)	S299P	probably benign	Het
Skic3	T	C	13: 76,321,473 (GRCm39)	S1322P	possibly damaging	Het
Slit2	C	T	5: 48,461,567 (GRCm39)	A1521V	probably benign	Het
Socs7	T	G	11: 97,263,933 (GRCm39)	V275G	possibly damaging	Het
Spink11	G	A	18: 44,323,554 (GRCm39)	P102S	probably benign	Het
Tacc3	A	G	5: 33,828,748 (GRCm39)	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,714,309 (GRCm39)	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,650,454 (GRCm39)	M875K	probably benign	Het
Ttc22	T	A	4: 106,479,869 (GRCm39)	L41Q	possibly damaging	Het
Vasn	T	A	16: 4,467,659 (GRCm39)	C535*	probably null	Het
Vcan	T	A	13: 89,837,856 (GRCm39)	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,576,297 (GRCm39)	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,592,781 (GRCm39)	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,344,532 (GRCm39)	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266 (GRCm39)	V931A	probably benign	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
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
R7082:Sbno2	UTSW	10	79,895,924 (GRCm39)	splice site	probably null
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'- GATAGCATAGCCCTGACCTTG -3'
(R):5'- AGTTAAGCCTCAGCACCTCC -3'

Sequencing Primer
(F):5'- AGTTTCCCCATCTGTAACAAGGGTG -3'
(R):5'- CTGCTCTCTACCCTGCCAC -3'

Posted On

2014-10-01