Mutagenetix > Incidental Mutation

Incidental Mutation 'R0652:Sbno2'

62316

Institutional Source

Beutler Lab

Gene Symbol

Sbno2

Ensembl Gene

ENSMUSG00000035673

Gene Name

strawberry notch 2

Synonyms

Stno

MMRRC Submission

038837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0652 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

79892826-79941405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79903128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 396 (V396E)

Ref Sequence

ENSEMBL: ENSMUSP00000151449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042771] [ENSMUST00000217972] [ENSMUST00000218630] [ENSMUST00000219258] [ENSMUST00000219260]

AlphaFold

Q7TNB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042771
AA Change: V412E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: V412E

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

probably damaging
Transcript: ENSMUST00000217972
AA Change: V396E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218462

Predicted Effect

probably damaging
Transcript: ENSMUST00000218630
AA Change: V412E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000219258

Predicted Effect

probably damaging
Transcript: ENSMUST00000219260
AA Change: V412E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.3%
20x: 90.1%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,889 (GRCm39)	N387D	probably benign	Het
Adgrg5	T	A	8: 95,660,785 (GRCm39)		probably null	Het
Ahi1	C	A	10: 20,855,360 (GRCm39)	H556Q	probably damaging	Het
Amph	A	G	13: 19,270,791 (GRCm39)		probably null	Het
Apol7a	T	C	15: 77,274,055 (GRCm39)		probably benign	Het
Apoo-ps	A	T	13: 107,550,910 (GRCm39)		noncoding transcript	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Atm	A	G	9: 53,397,314 (GRCm39)	V1673A	probably damaging	Het
B3gnt3	A	T	8: 72,146,466 (GRCm39)	V21E	probably benign	Het
Bco1	A	G	8: 117,832,435 (GRCm39)	D77G	probably damaging	Het
Brinp2	A	T	1: 158,074,191 (GRCm39)	H643Q	probably damaging	Het
Bsn	A	G	9: 107,982,941 (GRCm39)	F3604S	unknown	Het
Cacna1c	A	G	6: 118,579,190 (GRCm39)	F1753L	probably damaging	Het
Cd74	T	C	18: 60,944,957 (GRCm39)	S201P	probably damaging	Het
Cep192	T	A	18: 67,940,336 (GRCm39)	L101Q	probably benign	Het
Cfap161	T	C	7: 83,442,484 (GRCm39)	I110V	probably null	Het
Cnksr3	T	C	10: 7,070,463 (GRCm39)	D257G	probably damaging	Het
Col14a1	A	C	15: 55,208,278 (GRCm39)	E121A	unknown	Het
Cpne3	T	C	4: 19,532,486 (GRCm39)	D309G	probably benign	Het
Ctnnd1	A	G	2: 84,433,240 (GRCm39)	I609T	probably benign	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
Dpyd	A	G	3: 119,220,924 (GRCm39)	D965G	probably damaging	Het
Efcab2	T	A	1: 178,308,911 (GRCm39)	M138K	probably damaging	Het
Eml3	T	C	19: 8,910,649 (GRCm39)	S204P	probably damaging	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fbxw20	T	G	9: 109,061,400 (GRCm39)	Q116H	probably damaging	Het
Fech	A	G	18: 64,591,240 (GRCm39)	S395P	probably damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Fras1	T	A	5: 96,929,199 (GRCm39)	Y3868N	possibly damaging	Het
Ganab	A	T	19: 8,892,766 (GRCm39)		probably null	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Gja4	T	A	4: 127,205,920 (GRCm39)	Y281F	probably benign	Het
Gm5141	T	C	13: 62,921,946 (GRCm39)	T407A	probably damaging	Het
Gm5422	T	C	10: 31,125,277 (GRCm39)		noncoding transcript	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Hp1bp3	C	A	4: 137,956,080 (GRCm39)	N50K	possibly damaging	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Ido1	A	G	8: 25,075,260 (GRCm39)	F183S	probably damaging	Het
Iqgap1	T	A	7: 80,386,143 (GRCm39)	K936I	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
L3mbtl4	G	A	17: 69,081,286 (GRCm39)	C558Y	probably damaging	Het
Lrrc28	T	C	7: 67,267,833 (GRCm39)	N98S	probably damaging	Het
Lypd11	T	A	7: 24,423,622 (GRCm39)	N14I	possibly damaging	Het
Map1a	A	G	2: 121,133,264 (GRCm39)	D1360G	probably benign	Het
Megf10	C	T	18: 57,410,796 (GRCm39)	P702S	probably benign	Het
Met	A	G	6: 17,491,709 (GRCm39)	E157G	probably benign	Het
Mff	A	G	1: 82,728,285 (GRCm39)	D187G	possibly damaging	Het
Mlph	A	T	1: 90,870,630 (GRCm39)	I514F	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Myo15b	T	C	11: 115,755,468 (GRCm39)	V976A	probably benign	Het
Myo9a	A	G	9: 59,779,209 (GRCm39)	D1655G	probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Ndst4	A	T	3: 125,405,188 (GRCm39)	H481L	possibly damaging	Het
Nipbl	A	G	15: 8,332,964 (GRCm39)	S2220P	probably benign	Het
Nom1	C	A	5: 29,640,309 (GRCm39)	P212T	probably damaging	Het
Nsd1	A	G	13: 55,395,399 (GRCm39)	D1000G	possibly damaging	Het
Nudt9	T	C	5: 104,198,467 (GRCm39)	F44S	possibly damaging	Het
Numb	C	T	12: 83,842,566 (GRCm39)	V537I	probably damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or13a27	A	T	7: 139,925,545 (GRCm39)	M119K	probably damaging	Het
Or51q1c	A	G	7: 103,652,446 (GRCm39)		probably null	Het
Or5b109	A	T	19: 13,211,899 (GRCm39)	Y95F	possibly damaging	Het
Or5h17	A	G	16: 58,820,063 (GRCm39)	N5S	probably damaging	Het
Or6c211	T	A	10: 129,506,248 (GRCm39)	T47S	probably benign	Het
Osgin1	A	T	8: 120,172,211 (GRCm39)	Y335F	probably damaging	Het
Pcdh10	T	A	3: 45,334,199 (GRCm39)	V171E	probably damaging	Het
Pira13	T	A	7: 3,825,762 (GRCm39)	Y369F	probably benign	Het
Plxna4	T	C	6: 32,162,436 (GRCm39)	N1359S	probably damaging	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Prr5l	T	C	2: 101,602,635 (GRCm39)	T2A	possibly damaging	Het
Rbp3	T	A	14: 33,680,605 (GRCm39)	I1069N	possibly damaging	Het
Rnf144b	A	G	13: 47,373,983 (GRCm39)	Y60C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sgk1	A	G	10: 21,758,556 (GRCm39)	N7D	probably damaging	Het
Sigirr	A	T	7: 140,672,980 (GRCm39)	V69D	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
St6gal2	T	C	17: 55,805,290 (GRCm39)	Y396H	probably benign	Het
Ttn	A	T	2: 76,598,956 (GRCm39)	F19319Y	probably damaging	Het
Ubr4	T	A	4: 139,128,637 (GRCm39)	I599N	probably damaging	Het
Vmn1r213	A	G	13: 23,195,564 (GRCm39)		probably benign	Het
Vmn2r96	T	A	17: 18,817,830 (GRCm39)	M469K	probably benign	Het
Wasf1	T	A	10: 40,807,902 (GRCm39)		probably null	Het
Wdr20rt	T	C	12: 65,272,689 (GRCm39)	S51P	probably 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
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
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'- ATGCAGGAACTCCTCAAAGGTCCG -3'
(R):5'- AGTGGTCCTCAAACTCCCAAGTCC -3'

Sequencing Primer
(F):5'- CGGCTCATGTATATCATGTTGC -3'
(R):5'- AGTTCCCTCTGCTGCATTG -3'

Posted On

2013-07-30