Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Smcr8'

6052

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smcr8

Ensembl Gene

ENSMUSG00000049323

Gene Name

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

Synonyms

2310076G09Rik, D030073L15Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

60777524-60788287 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 60778632 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115727 (fasta)

Gene Model

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

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000056907
AA Change: L202*

SMART Domains

Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: L202*

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

Predicted Effect

probably null
Transcript: ENSMUST00000102667
AA Change: L202*

SMART Domains

Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: L202*

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

Predicted Effect

probably null
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 null
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 null
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 null
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

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Smcr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
R0346:Smcr8	UTSW	11	60779750	missense	probably benign	0.00
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

Posted On

2012-04-20