Mutagenetix > Incidental Mutation

Incidental Mutation 'R7133:Sbno2'

552837

Institutional Source

Beutler Lab

Gene Symbol

Sbno2

Ensembl Gene

ENSMUSG00000035673

Gene Name

strawberry notch 2

Synonyms

Stno

MMRRC Submission

045218-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79892826-79941405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79922146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 9 (D9G)

Ref Sequence

ENSEMBL: ENSMUSP00000151854 (fasta)

Gene Model

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

AlphaFold

Q7TNB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000042771
AA Change: D9G

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

SMART Domains

Protein: ENSMUSP00000041635
Gene: ENSMUSG00000035673
AA Change: D9G

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 damaging
Transcript: ENSMUST00000218630
AA Change: D9G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000219258
AA Change: D9G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219260
AA Change: D9G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (91/93)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	A	10: 78,902,473 (GRCm39)	K614N	probably benign	Het
2610008E11Rik	T	G	10: 78,902,474 (GRCm39)	K614T	probably benign	Het
Ahsa1	T	A	12: 87,317,116 (GRCm39)	S120R	probably benign	Het
Anapc16	G	A	10: 59,832,302 (GRCm39)	T37I	possibly damaging	Het
Arid2	C	A	15: 96,276,756 (GRCm39)	P1606H	probably damaging	Het
Ash1l	TATCTCCTTTTCCAAAAA	TA	3: 88,890,764 (GRCm39)		probably null	Het
Asic1	T	A	15: 99,569,968 (GRCm39)	N96K	probably damaging	Het
Asph	A	T	4: 9,484,575 (GRCm39)	D582E	probably benign	Het
Astn1	A	G	1: 158,400,557 (GRCm39)	D528G	probably damaging	Het
Atp9b	A	G	18: 80,952,871 (GRCm39)	V164A		Het
Cbx6	C	T	15: 79,712,866 (GRCm39)	G187D	possibly damaging	Het
Cct7	A	G	6: 85,443,627 (GRCm39)	T332A	probably benign	Het
Clca4a	A	T	3: 144,667,651 (GRCm39)	L440*	probably null	Het
Crybg2	A	T	4: 133,792,754 (GRCm39)	I130F	probably benign	Het
Crybg3	T	C	16: 59,357,167 (GRCm39)	E798G	probably damaging	Het
Ctnnd2	A	G	15: 30,480,995 (GRCm39)	E81G	possibly damaging	Het
Cwc22	C	T	2: 77,759,822 (GRCm39)	R75H	possibly damaging	Het
Cym	T	G	3: 107,121,530 (GRCm39)	D254A	probably damaging	Het
Dcaf11	T	A	14: 55,806,383 (GRCm39)		probably null	Het
Dctn1	A	T	6: 83,157,026 (GRCm39)		probably null	Het
Dennd5a	C	T	7: 109,495,449 (GRCm39)		probably null	Het
Dmpk	T	A	7: 18,821,232 (GRCm39)	C217S	probably damaging	Het
Dnah1	C	A	14: 31,008,033 (GRCm39)	V2125L	probably benign	Het
Exoc4	G	A	6: 33,415,408 (GRCm39)	A427T	probably benign	Het
Farp2	G	T	1: 93,548,956 (GRCm39)	V1021F	probably damaging	Het
Flg2	T	C	3: 93,127,069 (GRCm39)	S1994P	unknown	Het
Fmnl1	T	C	11: 103,072,610 (GRCm39)		probably null	Het
Frem2	T	A	3: 53,479,760 (GRCm39)	I1978F	possibly damaging	Het
Gan	T	A	8: 117,913,969 (GRCm39)	C122*	probably null	Het
Gpr25	T	A	1: 136,188,559 (GRCm39)	Y18F	probably damaging	Het
Hoxa7	C	T	6: 52,192,720 (GRCm39)	E223K	probably benign	Het
Hypk	A	G	2: 121,283,961 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,450,172 (GRCm39)	K27*	probably null	Het
Ighv6-5	T	A	12: 114,380,395 (GRCm39)	T41S	probably benign	Het
Ighv9-4	T	C	12: 114,263,757 (GRCm39)	M59V	probably benign	Het
Il17rb	T	C	14: 29,718,828 (GRCm39)	D418G	probably damaging	Het
Ints5	T	A	19: 8,872,923 (GRCm39)	V294E	probably damaging	Het
Irx6	G	A	8: 93,405,041 (GRCm39)	C303Y	probably damaging	Het
Itih3	T	A	14: 30,639,655 (GRCm39)	I389F	probably damaging	Het
Lama1	C	T	17: 68,089,141 (GRCm39)	T1604I		Het
Lama3	C	A	18: 12,672,843 (GRCm39)	Q873K	probably benign	Het
Lhx1	T	G	11: 84,410,746 (GRCm39)	S284R	probably benign	Het
Lrba	T	A	3: 86,302,238 (GRCm39)		probably null	Het
Lrg1	C	T	17: 56,427,592 (GRCm39)	G127R	possibly damaging	Het
Macir	G	A	1: 97,573,645 (GRCm39)	P140L	probably benign	Het
Mapre1	T	A	2: 153,606,883 (GRCm39)	L205H	probably benign	Het
Meltf	A	G	16: 31,711,617 (GRCm39)	N581S	probably damaging	Het
Mgat5	A	C	1: 127,292,926 (GRCm39)	M149L	probably benign	Het
Myh1	A	G	11: 67,093,412 (GRCm39)	T168A	probably benign	Het
Naalad2	C	T	9: 18,238,673 (GRCm39)	V681I	probably benign	Het
Or51e2	A	G	7: 102,391,524 (GRCm39)	S229P	probably damaging	Het
Or52r1c	T	A	7: 102,735,205 (GRCm39)	L155Q	probably damaging	Het
Pcnx2	T	C	8: 126,528,243 (GRCm39)	T1326A	probably benign	Het
Peg3	A	T	7: 6,711,944 (GRCm39)	C1093S	probably damaging	Het
Pidd1	T	C	7: 141,019,813 (GRCm39)	S650G	probably benign	Het
Pik3c2b	T	C	1: 133,017,972 (GRCm39)	S945P	possibly damaging	Het
Plec	T	C	15: 76,060,227 (GRCm39)	T3237A	possibly damaging	Het
Prpf3	A	T	3: 95,741,052 (GRCm39)		probably null	Het
Prpf4b	C	A	13: 35,085,477 (GRCm39)	H974Q	probably benign	Het
Ptpn3	T	C	4: 57,225,863 (GRCm39)	T451A	probably benign	Het
Ptprs	A	G	17: 56,724,429 (GRCm39)	Y1577H	probably damaging	Het
Rgr	C	T	14: 36,770,882 (GRCm39)	M1I	probably null	Het
Rxrg	A	T	1: 167,458,678 (GRCm39)	N257I	probably benign	Het
Scd1	T	C	19: 44,395,034 (GRCm39)	K64E	probably damaging	Het
Serpinb1a	T	A	13: 33,034,308 (GRCm39)	I28F	possibly damaging	Het
Sfmbt2	A	T	2: 10,406,818 (GRCm39)	E39V	probably damaging	Het
Slc29a1	A	G	17: 45,900,897 (GRCm39)	M89T	possibly damaging	Het
Slco4a1	T	A	2: 180,113,856 (GRCm39)	V431E	possibly damaging	Het
Smg1	C	T	7: 117,752,131 (GRCm39)	C2698Y	unknown	Het
Sptlc2	C	T	12: 87,397,151 (GRCm39)	D212N	probably benign	Het
St6galnac1	T	C	11: 116,657,899 (GRCm39)	T334A	possibly damaging	Het
Stim2	A	T	5: 54,156,263 (GRCm39)	D13V	possibly damaging	Het
Syne1	A	G	10: 5,181,592 (GRCm39)	W4248R	probably damaging	Het
Tanc1	T	C	2: 59,627,953 (GRCm39)	Y584H	probably benign	Het
Thoc6	C	A	17: 23,892,634 (GRCm39)		probably null	Het
Trim30a	T	A	7: 104,078,533 (GRCm39)	N181I	possibly damaging	Het
Trip11	T	A	12: 101,850,329 (GRCm39)	Q1245L	probably damaging	Het
Tshz3	A	G	7: 36,469,994 (GRCm39)	D661G	probably benign	Het
Ttll8	C	A	15: 88,799,630 (GRCm39)	V604L	probably damaging	Het
Ubtfl1	A	G	9: 18,320,931 (GRCm39)	D153G	probably damaging	Het
Ufsp2	C	A	8: 46,436,661 (GRCm39)	N137K	probably benign	Het
Ugt2a3	A	G	5: 87,473,393 (GRCm39)	I508T	possibly damaging	Het
Uso1	G	A	5: 92,306,324 (GRCm39)	E94K	probably benign	Het
Usp54	A	G	14: 20,611,310 (GRCm39)	S1169P	probably benign	Het
Vmn1r235	C	T	17: 21,482,292 (GRCm39)	P206S	probably benign	Het
Vmn1r69	T	C	7: 10,314,995 (GRCm39)		probably benign	Het
Zfp263	T	A	16: 3,567,255 (GRCm39)	C523*	probably null	Het
Zfp799	G	T	17: 33,039,210 (GRCm39)	T352K	probably benign	Het
Zfr	T	A	15: 12,180,724 (GRCm39)	V951E	probably damaging	Het
Zfyve26	T	C	12: 79,330,926 (GRCm39)	D431G	probably benign	Het
Zswim9	C	A	7: 12,993,664 (GRCm39)	A831S	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
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
R7082:Sbno2	UTSW	10	79,895,924 (GRCm39)	splice site	probably null
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'- AGTGCCCTCAAGAAATCTGCTC -3'
(R):5'- ACTTTCCAGATAGGCTTGCC -3'

Sequencing Primer
(F):5'- TCAAGAAATCTGCTCTGGGGC -3'
(R):5'- CAGATAGGCTTGCCGGGAG -3'

Posted On

2019-05-15