Mutagenetix > Incidental Mutation

Incidental Mutation 'R0546:Sbds'

44821

Institutional Source

Beutler Lab

Gene Symbol

Sbds

Ensembl Gene

ENSMUSG00000025337

Gene Name

SBDS ribosome maturation factor

Synonyms

4733401P19Rik, Shwachman-Bodian-Diamond syndrome homolog (human)

MMRRC Submission

038738-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0546 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130274573-130284371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130282919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 3 (A3D)

Ref Sequence

ENSEMBL: ENSMUSP00000115494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026387] [ENSMUST00000040213] [ENSMUST00000044204] [ENSMUST00000100662] [ENSMUST00000125625] [ENSMUST00000139211] [ENSMUST00000147619]

AlphaFold

P70122

Predicted Effect

probably benign
Transcript: ENSMUST00000026387

SMART Domains

Protein: ENSMUSP00000026387
Gene: ENSMUSG00000025337

Domain	Start	End	E-Value	Type
Pfam:SBDS	14	101	1.2e-36	PFAM
Pfam:SBDS_C	107	225	2.1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040213

SMART Domains

Protein: ENSMUSP00000037173
Gene: ENSMUSG00000056310

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:Flavodoxin_1	73	224	1.6e-27	PFAM
low complexity region	276	288	N/A	INTRINSIC
Pfam:Radical_SAM	399	581	1.1e-29	PFAM
Pfam:Wyosine_form	583	646	3.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044204

SMART Domains

Protein: ENSMUSP00000047318
Gene: ENSMUSG00000056310

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:Flavodoxin_1	73	224	1.5e-27	PFAM
low complexity region	276	288	N/A	INTRINSIC
transmembrane domain	375	397	N/A	INTRINSIC
transmembrane domain	423	445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100662

SMART Domains

Protein: ENSMUSP00000098226
Gene: ENSMUSG00000056310

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:Flavodoxin_1	73	224	4.9e-28	PFAM
low complexity region	276	288	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125625
AA Change: A3D

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115494
Gene: ENSMUSG00000025337
AA Change: A3D

Domain	Start	End	E-Value	Type
Pfam:SBDS	3	66	2.1e-25	PFAM
Pfam:SBDS_C	69	173	9.9e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139211

Predicted Effect

probably benign
Transcript: ENSMUST00000147619

SMART Domains

Protein: ENSMUSP00000123693
Gene: ENSMUSG00000056310

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	50	201	4.3e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173375

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: This gene encodes a protein that is necessary for ribosome function and maintaining normal levels of protein synthesis. The encoded protein may function to activate ribosomes for translation, and may be involved in cellular response to stress and DNA damage. Loss of this gene is embryonic lethal while deficiency of the encoded protein in the pancreas is associated with symptoms of Shwachman-Diamond syndrome. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality before somite formation and failure of gastrulation. Heterozygotes for the same allele are viable and fertile with no signs of Shwachman-Diamond syndrome related abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,077,076 (GRCm39)		probably null	Het
Actn1	C	T	12: 80,225,208 (GRCm39)	R418Q	probably benign	Het
Adam39	G	A	8: 41,279,468 (GRCm39)	V620M	probably damaging	Het
Agr3	C	A	12: 35,978,329 (GRCm39)	T14K	probably benign	Het
Alpk2	T	C	18: 65,439,788 (GRCm39)	D1002G	probably benign	Het
Amz2	T	A	11: 109,324,780 (GRCm39)	N221K	probably benign	Het
Aox4	A	G	1: 58,289,333 (GRCm39)	E752G	probably damaging	Het
Ap2a1	C	T	7: 44,554,132 (GRCm39)	G500S	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc112	A	G	18: 46,424,139 (GRCm39)	S200P	possibly damaging	Het
Ccdc18	A	T	5: 108,322,830 (GRCm39)	E643D	probably benign	Het
Ccdc180	A	T	4: 45,904,597 (GRCm39)	T398S	possibly damaging	Het
Cnp	A	G	11: 100,471,549 (GRCm39)	Y397C	probably damaging	Het
Cpa4	T	C	6: 30,580,962 (GRCm39)	W184R	probably damaging	Het
Crebbp	A	T	16: 3,903,671 (GRCm39)	I1856N	probably damaging	Het
Ctrl	A	G	8: 106,658,966 (GRCm39)	I200T	probably damaging	Het
Cyfip1	C	T	7: 55,572,564 (GRCm39)	R934*	probably null	Het
Dennd5a	A	G	7: 109,520,633 (GRCm39)	V408A	probably benign	Het
Dhfr	G	A	13: 92,504,692 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,492,388 (GRCm39)	N740Y	probably damaging	Het
Fam110a	T	C	2: 151,812,732 (GRCm39)	T13A	probably benign	Het
Fars2	G	T	13: 36,388,569 (GRCm39)	K19N	probably benign	Het
Fer1l6	A	T	15: 58,430,257 (GRCm39)		probably null	Het
Gabra1	T	A	11: 42,053,428 (GRCm39)	T69S	probably damaging	Het
Galnt18	T	G	7: 111,107,348 (GRCm39)	N475T	probably damaging	Het
Gbp4	T	C	5: 105,268,836 (GRCm39)	Y439C	probably damaging	Het
Gpatch2l	A	G	12: 86,335,622 (GRCm39)	*409W	probably null	Het
Hip1r	T	C	5: 124,137,114 (GRCm39)	V658A	possibly damaging	Het
Hspg2	A	G	4: 137,229,605 (GRCm39)	D73G	probably benign	Het
Ifitm2	A	G	7: 140,535,656 (GRCm39)	V58A	possibly damaging	Het
Ift172	T	C	5: 31,414,945 (GRCm39)	D1359G	probably benign	Het
Ing1	A	G	8: 11,607,031 (GRCm39)	D41G	probably damaging	Het
Itgal	C	T	7: 126,909,486 (GRCm39)	T446I	probably benign	Het
Itgav	G	T	2: 83,633,586 (GRCm39)	M978I	probably benign	Het
Jazf1	A	G	6: 52,754,681 (GRCm39)	Y132H	possibly damaging	Het
Lgr4	T	A	2: 109,829,766 (GRCm39)	N211K	probably damaging	Het
Mgat4d	A	G	8: 84,082,350 (GRCm39)	N100S	possibly damaging	Het
Mrgprb3	T	C	7: 48,293,263 (GRCm39)	Y96C	probably damaging	Het
Myh11	A	C	16: 14,023,492 (GRCm39)	L1562R	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo15a	A	G	11: 60,397,139 (GRCm39)	Y2667C	probably damaging	Het
Or14j7	T	A	17: 38,235,229 (GRCm39)	C257*	probably null	Het
Or52ae7	A	G	7: 103,119,907 (GRCm39)	I220M	possibly damaging	Het
Or6c70	G	A	10: 129,710,407 (GRCm39)	T73I	possibly damaging	Het
Or8k37	T	A	2: 86,469,573 (GRCm39)	T160S	possibly damaging	Het
Or8k38	C	T	2: 86,488,235 (GRCm39)	C189Y	possibly damaging	Het
Or9m2	T	A	2: 87,820,816 (GRCm39)	Y120*	probably null	Het
Paox	G	T	7: 139,711,591 (GRCm39)	G148W	probably damaging	Het
Pkd1	T	C	17: 24,799,112 (GRCm39)	V2777A	probably benign	Het
Plod2	T	A	9: 92,477,388 (GRCm39)	V360E	probably damaging	Het
Prune2	T	C	19: 16,998,030 (GRCm39)		probably benign	Het
Sec23a	T	C	12: 59,031,953 (GRCm39)	T426A	probably benign	Het
Sec31a	T	C	5: 100,551,929 (GRCm39)	Y148C	probably damaging	Het
Shprh	T	A	10: 11,059,631 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,066,742 (GRCm39)	V299A	probably benign	Het
Smg8	T	C	11: 86,974,439 (GRCm39)	Y174C	possibly damaging	Het
Snx22	T	A	9: 65,976,059 (GRCm39)	Y58F	probably damaging	Het
Snx25	A	G	8: 46,556,667 (GRCm39)	Y308H	probably benign	Het
St3gal2	A	G	8: 111,696,738 (GRCm39)		probably null	Het
Stab1	C	T	14: 30,861,507 (GRCm39)	R2500H	possibly damaging	Het
Steap4	T	C	5: 8,025,870 (GRCm39)	S144P	probably damaging	Het
Stfa3	T	A	16: 36,272,619 (GRCm39)		probably benign	Het
Tmprss9	C	A	10: 80,735,157 (GRCm39)	Q1095K	probably benign	Het
Top2a	A	G	11: 98,890,052 (GRCm39)	V1217A	possibly damaging	Het
Trhr2	A	G	8: 123,085,228 (GRCm39)		probably null	Het
Trim7	A	G	11: 48,736,336 (GRCm39)	E23G	probably damaging	Het
Trpv3	A	T	11: 73,188,013 (GRCm39)	E788V	probably damaging	Het
Ttn	A	G	2: 76,575,863 (GRCm39)	I25010T	probably damaging	Het
Ube2ql1	T	C	13: 69,887,419 (GRCm39)	H14R	unknown	Het
Uggt1	C	T	1: 36,235,052 (GRCm39)	R419H	probably benign	Het
Xpo4	A	G	14: 57,850,731 (GRCm39)	V391A	probably benign	Het
Zfhx3	A	G	8: 109,520,819 (GRCm39)	D647G	probably damaging	Het
Zfp354c	A	T	11: 50,706,457 (GRCm39)	M206K	probably benign	Het
Zfp804a	A	G	2: 82,089,264 (GRCm39)	N1031S	possibly damaging	Het
Zfp868	A	G	8: 70,064,882 (GRCm39)	V151A	probably benign	Het

Other mutations in Sbds

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Sbds	APN	5	130,282,907 (GRCm39)	missense	probably damaging	1.00
IGL02111:Sbds	APN	5	130,279,782 (GRCm39)	missense	probably damaging	1.00
R0421:Sbds	UTSW	5	130,282,774 (GRCm39)	unclassified	probably benign
R4693:Sbds	UTSW	5	130,279,816 (GRCm39)	missense	probably damaging	1.00
R5527:Sbds	UTSW	5	130,275,247 (GRCm39)	missense	possibly damaging	0.95
R6144:Sbds	UTSW	5	130,275,185 (GRCm39)	missense	probably benign
R8003:Sbds	UTSW	5	130,279,726 (GRCm39)	missense	possibly damaging	0.92
R8882:Sbds	UTSW	5	130,282,778 (GRCm39)	critical splice donor site	probably null
R8905:Sbds	UTSW	5	130,277,125 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGGACCTACCTGCTTGCAGATTTC -3'
(R):5'- TCTTCGCTACTGCCATCTAGGGAC -3'

Sequencing Primer
(F):5'- GCAGATTTCAGTCTGGTCGTC -3'
(R):5'- ttttttttttGagactggcctcaaac -3'

Posted On

2013-06-11