Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Smcr8'

415749

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 #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

60777524-60788287 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 60778027 bp (GRCm38)

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]

AlphaFold

Q3UMB5

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

SMART Domains

Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323

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

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	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
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
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
R8717:Smcr8	UTSW	11	60779428	missense	probably damaging	1.00
R9204:Smcr8	UTSW	11	60778031	missense	probably damaging	1.00
R9218:Smcr8	UTSW	11	60779879	missense	probably benign
Z1186:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1186:Smcr8	UTSW	11	60779106	missense	probably benign
Z1186:Smcr8	UTSW	11	60779873	missense	probably benign
Z1187:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1187:Smcr8	UTSW	11	60779106	missense	probably benign
Z1187:Smcr8	UTSW	11	60779873	missense	probably benign
Z1188:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1188:Smcr8	UTSW	11	60779106	missense	probably benign
Z1188:Smcr8	UTSW	11	60779873	missense	probably benign
Z1189:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1189:Smcr8	UTSW	11	60779106	missense	probably benign
Z1189:Smcr8	UTSW	11	60779873	missense	probably benign
Z1190:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1190:Smcr8	UTSW	11	60779106	missense	probably benign
Z1190:Smcr8	UTSW	11	60779873	missense	probably benign
Z1191:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1191:Smcr8	UTSW	11	60779106	missense	probably benign
Z1191:Smcr8	UTSW	11	60779873	missense	probably benign
Z1192:Smcr8	UTSW	11	60777980	unclassified	probably benign
Z1192:Smcr8	UTSW	11	60779106	missense	probably benign
Z1192:Smcr8	UTSW	11	60779873	missense	probably benign

Posted On

2016-08-02