Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Sbno2'

662366

Institutional Source

Beutler Lab

Gene Symbol

Sbno2

Ensembl Gene

ENSMUSG00000035673

Gene Name

strawberry notch 2

Synonyms

Stno

MMRRC Submission

068574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8725 (G1)

Quality Score

172.009

Status

Not validated

Chromosome

Chromosomal Location

79892826-79941405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79911090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 6 (F6S)

Ref Sequence

ENSEMBL: ENSMUSP00000151449 (fasta)

Gene Model

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

AlphaFold

Q7TNB8

Predicted Effect

probably benign
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: ENSMUST00000217972
AA Change: F6S

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000218630

Predicted Effect

probably benign
Transcript: ENSMUST00000219258

Predicted Effect

probably benign
Transcript: ENSMUST00000219260

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adam30	C	T	3: 98,070,348 (GRCm39)	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Btbd10	A	G	7: 112,927,626 (GRCm39)	I243T	possibly damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,155,323 (GRCm39)	T1188A	probably benign	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Plekhm1	A	C	11: 103,258,444 (GRCm39)	F1031L	probably damaging	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rtn3	A	G	19: 7,434,726 (GRCm39)	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	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
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
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'- AACTTCTGGCATGTTCACTATGAC -3'
(R):5'- AGGCATCATTTCCTGAAACCC -3'

Sequencing Primer
(F):5'- GGCATGTTCACTATGACTTGCCAAG -3'
(R):5'- AGTCGGAGCCGGTGACTAAC -3'

Posted On

2021-03-08