Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Smcr8'

34286

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

038553-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60777524-60788287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60779750 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 575 (I575V)

Ref Sequence

ENSEMBL: ENSMUSP00000099728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002891] [ENSMUST00000056907] [ENSMUST00000102667] [ENSMUST00000102668] [ENSMUST00000117743] [ENSMUST00000120417] [ENSMUST00000130068]

Predicted Effect

probably benign
Transcript: ENSMUST00000002891

SMART Domains

Protein: ENSMUSP00000002891
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	35	169	5.04e-24	SMART
TOP1Bc	172	269	4.99e-37	SMART
TOP1Ac	315	569	1.47e-107	SMART
Pfam:zf-C4_Topoisom	655	694	1.7e-15	PFAM
Pfam:zf-GRF	813	854	9.7e-23	PFAM
low complexity region	884	896	N/A	INTRINSIC
Pfam:zf-GRF	897	941	7.9e-24	PFAM
ZnF_C2HC	985	1001	7.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056907
AA Change: I575V

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

SMART Domains

Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: I575V

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
AA Change: I575V

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

SMART Domains

Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: I575V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102668

SMART Domains

Protein: ENSMUSP00000099729
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	35	169	5.04e-24	SMART
TOP1Bc	172	269	4.99e-37	SMART
TOP1Ac	315	569	1.47e-107	SMART
Pfam:zf-C4_Topoisom	655	694	5.9e-16	PFAM
Pfam:zf-GRF	813	854	2.6e-21	PFAM
low complexity region	884	896	N/A	INTRINSIC
Pfam:zf-GRF	897	941	4.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117743

SMART Domains

Protein: ENSMUSP00000113057
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	10	144	5.04e-24	SMART
TOP1Bc	147	244	4.99e-37	SMART
TOP1Ac	290	544	1.47e-107	SMART
Pfam:zf-C4_Topoisom	630	669	4.6e-16	PFAM
ZnF_C2HC	755	771	7.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120417

SMART Domains

Protein: ENSMUSP00000113653
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
TOPRIM	10	144	5.04e-24	SMART
TOP1Bc	147	244	4.99e-37	SMART
TOP1Ac	290	544	1.47e-107	SMART
Pfam:zf-C4_Topoisom	630	666	1.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130068

SMART Domains

Protein: ENSMUSP00000115727
Gene: ENSMUSG00000002814

Domain	Start	End	E-Value	Type
PDB:4CGY\|A	1	85	2e-48	PDB
SCOP:d1gkub3	5	85	7e-12	SMART
Blast:TOPRIM	10	85	7e-50	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr385	A	G	11: 73,589,457	Y94H	probably damaging	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	probably benign	Het

Other mutations in Smcr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Smcr8	APN	11	60778632	splice site	probably null
IGL00514:Smcr8	APN	11	60778367	nonsense	probably null
IGL01563:Smcr8	APN	11	60783845	missense	possibly damaging	0.55
IGL01650:Smcr8	APN	11	60778184	missense	probably damaging	1.00
IGL02390:Smcr8	APN	11	60779722	missense	probably benign	0.03
IGL02582:Smcr8	APN	11	60778895	missense	probably benign	0.00
IGL03008:Smcr8	APN	11	60778461	missense	probably damaging	1.00
IGL03286:Smcr8	APN	11	60778027	unclassified	probably benign
chauvenist	UTSW	11	60778598	missense	probably damaging	1.00
liberta	UTSW	11	60778443	missense	probably damaging	1.00
patriot	UTSW	11	60778032	missense	probably damaging	1.00
patriot2	UTSW	11	60778028	start codon destroyed	probably null	1.00
patriot3	UTSW	11	60779870	nonsense	probably null
R0022:Smcr8	UTSW	11	60780359	missense	probably damaging	1.00
R0022:Smcr8	UTSW	11	60780359	missense	probably damaging	1.00
R0197:Smcr8	UTSW	11	60778115	missense	probably damaging	1.00
R0333:Smcr8	UTSW	11	60780222	missense	possibly damaging	0.96
R0701:Smcr8	UTSW	11	60778115	missense	probably damaging	1.00
R0720:Smcr8	UTSW	11	60778443	missense	probably damaging	1.00
R0883:Smcr8	UTSW	11	60778115	missense	probably damaging	1.00
R1178:Smcr8	UTSW	11	60779532	missense	probably damaging	1.00
R1418:Smcr8	UTSW	11	60778032	missense	probably damaging	1.00
R2012:Smcr8	UTSW	11	60778184	missense	probably damaging	1.00
R3690:Smcr8	UTSW	11	60778028	start codon destroyed	probably null	1.00
R3767:Smcr8	UTSW	11	60779504	missense	probably benign	0.30
R4801:Smcr8	UTSW	11	60778610	splice site	probably null
R4802:Smcr8	UTSW	11	60778610	splice site	probably null
R4862:Smcr8	UTSW	11	60778071	missense	probably benign	0.01
R5108:Smcr8	UTSW	11	60779870	nonsense	probably null
R5361:Smcr8	UTSW	11	60778292	missense	probably damaging	1.00
R5745:Smcr8	UTSW	11	60784151	missense	probably benign	0.00
R5806:Smcr8	UTSW	11	60780382	critical splice donor site	probably null
R6041:Smcr8	UTSW	11	60779568	missense	probably damaging	1.00
R6277:Smcr8	UTSW	11	60778809	missense	probably benign	0.07
R6289:Smcr8	UTSW	11	60778598	missense	probably damaging	1.00
R6445:Smcr8	UTSW	11	60779015	missense	possibly damaging	0.95
R6826:Smcr8	UTSW	11	60778862	missense	possibly damaging	0.85
R7062:Smcr8	UTSW	11	60780354	missense	probably damaging	1.00
R7176:Smcr8	UTSW	11	60778946	missense	probably damaging	1.00
R7516:Smcr8	UTSW	11	60779988	missense	probably benign	0.01
R7848:Smcr8	UTSW	11	60779924	missense	probably benign
R8487:Smcr8	UTSW	11	60783996	missense	probably damaging	0.98
R8552:Smcr8	UTSW	11	60780153	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGTCCGTAGCAAAGCGGTCAG -3'
(R):5'- GTCAGTGTTTTCCACTCCGAAGTCC -3'

Sequencing Primer
(F):5'- GGACAGCATTGAAGTCTTAAGTACC -3'
(R):5'- CCACACTGTCCTCATCAGAA -3'

Posted On

2013-05-09