Mutagenetix > Incidental Mutation

Incidental Mutation 'R5745:Smcr8'

445760

Institutional Source

Beutler Lab

Gene Symbol

Smcr8

Ensembl Gene

ENSMUSG00000049323

Gene Name

Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)

Synonyms

2310076G09Rik, D030073L15Rik

MMRRC Submission

043198-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5745 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60668351-60679113 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60674977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 918 (T918S)

Ref Sequence

ENSEMBL: ENSMUSP00000055926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018744] [ENSMUST00000056907] [ENSMUST00000102667]

AlphaFold

Q3UMB5

Predicted Effect

probably benign
Transcript: ENSMUST00000018744

SMART Domains

Protein: ENSMUSP00000018744
Gene: ENSMUSG00000020534

Domain	Start	End	E-Value	Type
Pfam:SHMT	20	419	1.3e-211	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056907
AA Change: T918S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: T918S

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
Pfam:Folliculin	78	262	5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102667

SMART Domains

Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
Pfam:Folliculin	87	255	8e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174093

Predicted Effect

probably benign
Transcript: ENSMUST00000174174

SMART Domains

Protein: ENSMUSP00000134703
Gene: ENSMUSG00000020534

Domain	Start	End	E-Value	Type
Pfam:SHMT	20	79	7.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174214

SMART Domains

Protein: ENSMUSP00000134269
Gene: ENSMUSG00000020534

Domain	Start	End	E-Value	Type
Pfam:SHMT	20	408	4.6e-196	PFAM
Pfam:Aminotran_1_2	153	409	3.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174719

SMART Domains

Protein: ENSMUSP00000134318
Gene: ENSMUSG00000020534

Domain	Start	End	E-Value	Type
Pfam:SHMT	20	268	6.4e-137	PFAM
Pfam:SHMT	265	380	3.9e-51	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mouse embryonic fibroblasts homozygous for a knock-out allele show impaired autophagy induction, a reduced autophagic flux, and abnormal expression of lysosomal enzymes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,349,828 (GRCm39)	R74W	probably damaging	Het
4933407L21Rik	T	G	1: 85,858,995 (GRCm39)		probably null	Het
Adcy8	A	T	15: 64,792,320 (GRCm39)	I212N	possibly damaging	Het
Cobll1	T	C	2: 64,928,801 (GRCm39)	T879A	probably damaging	Het
Copb2	T	C	9: 98,456,164 (GRCm39)	S233P	probably damaging	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Dgcr8	A	T	16: 18,098,307 (GRCm39)	N361K	probably benign	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dock8	T	A	19: 25,107,761 (GRCm39)	N830K	probably benign	Het
Ephb1	C	T	9: 102,072,633 (GRCm39)	D49N	probably benign	Het
Fer1l6	A	G	15: 58,443,238 (GRCm39)	I514V	probably benign	Het
Fpr1	A	G	17: 18,097,344 (GRCm39)	I215T	probably benign	Het
Hectd4	G	A	5: 121,491,565 (GRCm39)	V3668M	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,388 (GRCm39)	I68L	probably benign	Het
Intu	A	G	3: 40,647,402 (GRCm39)		probably null	Het
Kel	C	T	6: 41,675,961 (GRCm39)	G243E	probably damaging	Het
Mycbp2	A	C	14: 103,393,889 (GRCm39)	S2781A	possibly damaging	Het
Myom2	T	A	8: 15,172,705 (GRCm39)	S1211T	probably benign	Het
Nrp1	A	T	8: 129,194,929 (GRCm39)	I462F	probably benign	Het
Or10d3	T	C	9: 39,461,987 (GRCm39)	Y60C	probably damaging	Het
Or6c5c	T	A	10: 129,299,307 (GRCm39)	I254N	probably damaging	Het
Pcsk1	A	C	13: 75,280,079 (GRCm39)	S635R	probably benign	Het
Pms1	A	T	1: 53,246,861 (GRCm39)	Y280*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Sema3b	C	A	9: 107,478,628 (GRCm39)	A356S	probably damaging	Het
Shoc2	C	A	19: 54,018,323 (GRCm39)	T485K	probably benign	Het
Slc7a7	G	A	14: 54,615,292 (GRCm39)	S235L	possibly damaging	Het
Tafa1	G	A	6: 96,626,146 (GRCm39)	R128Q	probably damaging	Het
Tle3	C	A	9: 61,322,133 (GRCm39)	F719L	probably damaging	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Vmn2r57	A	T	7: 41,097,895 (GRCm39)	H57Q	possibly damaging	Het

Other mutations in Smcr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Smcr8	APN	11	60,669,458 (GRCm39)	splice site	probably null
IGL00514:Smcr8	APN	11	60,669,193 (GRCm39)	nonsense	probably null
IGL01563:Smcr8	APN	11	60,674,671 (GRCm39)	missense	possibly damaging	0.55
IGL01650:Smcr8	APN	11	60,669,010 (GRCm39)	missense	probably damaging	1.00
IGL02390:Smcr8	APN	11	60,670,548 (GRCm39)	missense	probably benign	0.03
IGL02582:Smcr8	APN	11	60,669,721 (GRCm39)	missense	probably benign	0.00
IGL03008:Smcr8	APN	11	60,669,287 (GRCm39)	missense	probably damaging	1.00
IGL03286:Smcr8	APN	11	60,668,853 (GRCm39)	unclassified	probably benign
chauvenist	UTSW	11	60,669,424 (GRCm39)	missense	probably damaging	1.00
liberta	UTSW	11	60,669,269 (GRCm39)	missense	probably damaging	1.00
patriot	UTSW	11	60,668,858 (GRCm39)	missense	probably damaging	1.00
patriot2	UTSW	11	60,668,854 (GRCm39)	start codon destroyed	probably null	1.00
patriot3	UTSW	11	60,670,696 (GRCm39)	nonsense	probably null
R0022:Smcr8	UTSW	11	60,671,185 (GRCm39)	missense	probably damaging	1.00
R0022:Smcr8	UTSW	11	60,671,185 (GRCm39)	missense	probably damaging	1.00
R0197:Smcr8	UTSW	11	60,668,941 (GRCm39)	missense	probably damaging	1.00
R0333:Smcr8	UTSW	11	60,671,048 (GRCm39)	missense	possibly damaging	0.96
R0346:Smcr8	UTSW	11	60,670,576 (GRCm39)	missense	probably benign	0.00
R0701:Smcr8	UTSW	11	60,668,941 (GRCm39)	missense	probably damaging	1.00
R0720:Smcr8	UTSW	11	60,669,269 (GRCm39)	missense	probably damaging	1.00
R0883:Smcr8	UTSW	11	60,668,941 (GRCm39)	missense	probably damaging	1.00
R1178:Smcr8	UTSW	11	60,670,358 (GRCm39)	missense	probably damaging	1.00
R1418:Smcr8	UTSW	11	60,668,858 (GRCm39)	missense	probably damaging	1.00
R2012:Smcr8	UTSW	11	60,669,010 (GRCm39)	missense	probably damaging	1.00
R3690:Smcr8	UTSW	11	60,668,854 (GRCm39)	start codon destroyed	probably null	1.00
R3767:Smcr8	UTSW	11	60,670,330 (GRCm39)	missense	probably benign	0.30
R4801:Smcr8	UTSW	11	60,669,436 (GRCm39)	splice site	probably null
R4802:Smcr8	UTSW	11	60,669,436 (GRCm39)	splice site	probably null
R4862:Smcr8	UTSW	11	60,668,897 (GRCm39)	missense	probably benign	0.01
R5108:Smcr8	UTSW	11	60,670,696 (GRCm39)	nonsense	probably null
R5361:Smcr8	UTSW	11	60,669,118 (GRCm39)	missense	probably damaging	1.00
R5806:Smcr8	UTSW	11	60,671,208 (GRCm39)	critical splice donor site	probably null
R6041:Smcr8	UTSW	11	60,670,394 (GRCm39)	missense	probably damaging	1.00
R6277:Smcr8	UTSW	11	60,669,635 (GRCm39)	missense	probably benign	0.07
R6289:Smcr8	UTSW	11	60,669,424 (GRCm39)	missense	probably damaging	1.00
R6445:Smcr8	UTSW	11	60,669,841 (GRCm39)	missense	possibly damaging	0.95
R6826:Smcr8	UTSW	11	60,669,688 (GRCm39)	missense	possibly damaging	0.85
R7062:Smcr8	UTSW	11	60,671,180 (GRCm39)	missense	probably damaging	1.00
R7176:Smcr8	UTSW	11	60,669,772 (GRCm39)	missense	probably damaging	1.00
R7516:Smcr8	UTSW	11	60,670,814 (GRCm39)	missense	probably benign	0.01
R7848:Smcr8	UTSW	11	60,670,750 (GRCm39)	missense	probably benign
R8487:Smcr8	UTSW	11	60,674,822 (GRCm39)	missense	probably damaging	0.98
R8552:Smcr8	UTSW	11	60,670,979 (GRCm39)	missense	probably damaging	1.00
R8717:Smcr8	UTSW	11	60,670,254 (GRCm39)	missense	probably damaging	1.00
R9204:Smcr8	UTSW	11	60,668,857 (GRCm39)	missense	probably damaging	1.00
R9218:Smcr8	UTSW	11	60,670,705 (GRCm39)	missense	probably benign
Z1186:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1186:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1186:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign
Z1187:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1187:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1187:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign
Z1188:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1188:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1188:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign
Z1189:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1189:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1189:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign
Z1190:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1190:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1190:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign
Z1191:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1191:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1191:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign
Z1192:Smcr8	UTSW	11	60,670,699 (GRCm39)	missense	probably benign
Z1192:Smcr8	UTSW	11	60,669,932 (GRCm39)	missense	probably benign
Z1192:Smcr8	UTSW	11	60,668,806 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTCTGCTCCAAGGCATTC -3'
(R):5'- TGTTGCAACTATAACTGCCACC -3'

Sequencing Primer
(F):5'- GCTCCAAGGCATTCCTCTACAC -3'
(R):5'- GCAACTATAACTGCCACCTGTTTC -3'

Posted On

2016-11-21