Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Smcr8'

102797

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 #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

60777524-60788287 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60778184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 53 (F53L)

Ref Sequence

ENSEMBL: ENSMUSP00000099728 (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 damaging
Transcript: ENSMUST00000056907
AA Change: F53L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: F53L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102667
AA Change: F53L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: F53L

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Btbd3	A	T	2: 138,284,105	D334V	probably damaging	Het
Cabp4	T	C	19: 4,139,324	E78G	probably benign	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Far2	C	A	6: 148,173,487	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gatb	T	C	3: 85,613,484	I300T	possibly damaging	Het
Gpam	T	C	19: 55,081,700	N375D	probably benign	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Nav1	A	T	1: 135,454,760	D1321E	probably damaging	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	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
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
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

2014-01-21