Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Sbds'

431916

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

043085-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130274573-130284371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130275247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 227 (E227G)

Ref Sequence

ENSEMBL: ENSMUSP00000026387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026387] [ENSMUST00000065329] [ENSMUST00000111298] [ENSMUST00000125625] [ENSMUST00000139211]

AlphaFold

P70122

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026387
AA Change: E227G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026387
Gene: ENSMUSG00000025337
AA Change: E227G

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: ENSMUST00000065329

SMART Domains

Protein: ENSMUSP00000067501
Gene: ENSMUSG00000053094

Domain	Start	End	E-Value	Type
Pfam:TMEM219	10	258	1.7e-97	PFAM
transmembrane domain	268	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111298

SMART Domains

Protein: ENSMUSP00000106929
Gene: ENSMUSG00000053094

Domain	Start	End	E-Value	Type
Pfam:TMEM219	10	257	1.8e-86	PFAM
transmembrane domain	268	290	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125625

SMART Domains

Protein: ENSMUSP00000115494
Gene: ENSMUSG00000025337

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

noncoding transcript
Transcript: ENSMUST00000200815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201598

Coding Region Coverage

1x: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Cplane2	C	A	4: 140,947,303 (GRCm39)	A228D	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dock7	C	T	4: 98,842,105 (GRCm39)		probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Heatr1	T	C	13: 12,417,641 (GRCm39)	I264T	probably damaging	Het
Heatr1	T	C	13: 12,419,829 (GRCm39)	I384T	probably benign	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Klk1b26	T	C	7: 43,662,187 (GRCm39)	I15T	probably benign	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Spef1	T	A	2: 131,014,661 (GRCm39)	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Uxs1	T	C	1: 43,819,240 (GRCm39)	T188A	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	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
R0546:Sbds	UTSW	5	130,282,919 (GRCm39)	missense	possibly damaging	0.93
R4693:Sbds	UTSW	5	130,279,816 (GRCm39)	missense	probably damaging	1.00
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'- TGCTGGAAACCCCAATTGAC -3'
(R):5'- CCAAAGTCCAACAGTAGGTGC -3'

Sequencing Primer
(F):5'- CAGGTACCTGGGTAAATGTTTAACAC -3'
(R):5'- TCCAACAGTAGGTGCTTAGAATCG -3'

Posted On

2016-10-05