Incidental Mutation 'IGL03286:Smcr8'
ID |
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 |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03286
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 60668853 bp (GRCm39)
|
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: 58,088,543 (GRCm39) |
G110S |
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,170,816 (GRCm39) |
S1548P |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,005,397 (GRCm39) |
D147G |
probably benign |
Het |
Calcoco2 |
A |
G |
11: 95,994,098 (GRCm39) |
V116A |
possibly damaging |
Het |
Chd5 |
A |
T |
4: 152,469,952 (GRCm39) |
M1842L |
probably benign |
Het |
Comt |
T |
C |
16: 18,230,490 (GRCm39) |
D73G |
probably damaging |
Het |
Ctnna1 |
A |
G |
18: 35,308,206 (GRCm39) |
I175M |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,060,068 (GRCm39) |
Y2839N |
probably damaging |
Het |
Dph7 |
T |
A |
2: 24,856,628 (GRCm39) |
H193Q |
probably damaging |
Het |
Eif2b5 |
A |
G |
16: 20,321,012 (GRCm39) |
D258G |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,826,762 (GRCm39) |
D630G |
probably damaging |
Het |
Ext2 |
C |
T |
2: 93,537,617 (GRCm39) |
V590M |
probably damaging |
Het |
Fchsd2 |
T |
C |
7: 100,908,982 (GRCm39) |
|
probably null |
Het |
Gm13272 |
A |
G |
4: 88,698,586 (GRCm39) |
Q167R |
probably benign |
Het |
Gm21834 |
A |
G |
17: 58,048,922 (GRCm39) |
V98A |
possibly damaging |
Het |
Grid1 |
T |
A |
14: 35,242,642 (GRCm39) |
|
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,356,083 (GRCm39) |
|
probably null |
Het |
Ighv5-17 |
T |
G |
12: 113,822,797 (GRCm39) |
E108A |
possibly damaging |
Het |
Invs |
A |
G |
4: 48,382,261 (GRCm39) |
T144A |
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,334,816 (GRCm39) |
|
probably benign |
Het |
Itga4 |
A |
T |
2: 79,119,706 (GRCm39) |
Y504F |
probably damaging |
Het |
Krt5 |
A |
G |
15: 101,615,983 (GRCm39) |
F544S |
unknown |
Het |
Larp4 |
A |
G |
15: 99,883,967 (GRCm39) |
Y67C |
probably damaging |
Het |
Msh2 |
T |
C |
17: 87,990,095 (GRCm39) |
M261T |
possibly damaging |
Het |
Nav1 |
A |
T |
1: 135,382,274 (GRCm39) |
C1367S |
probably benign |
Het |
Nox4 |
T |
A |
7: 87,019,349 (GRCm39) |
|
probably benign |
Het |
Noxa1 |
A |
G |
2: 24,975,732 (GRCm39) |
|
probably null |
Het |
Or5b98 |
A |
C |
19: 12,931,532 (GRCm39) |
Y193S |
probably benign |
Het |
Or6p1 |
A |
C |
1: 174,258,743 (GRCm39) |
I250L |
probably benign |
Het |
Pde4d |
T |
A |
13: 110,091,040 (GRCm39) |
|
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,411,925 (GRCm39) |
G36S |
possibly damaging |
Het |
Plekhm2 |
A |
G |
4: 141,361,658 (GRCm39) |
S262P |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,581,473 (GRCm39) |
T582K |
probably damaging |
Het |
Rap1b |
A |
T |
10: 117,654,480 (GRCm39) |
L120* |
probably null |
Het |
Rft1 |
C |
T |
14: 30,383,323 (GRCm39) |
T121I |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,107,920 (GRCm39) |
I1613T |
probably damaging |
Het |
Slc47a2 |
T |
G |
11: 61,233,293 (GRCm39) |
E79A |
possibly damaging |
Het |
Slc9a4 |
A |
G |
1: 40,619,928 (GRCm39) |
I85V |
probably null |
Het |
Slfn8 |
A |
T |
11: 82,904,294 (GRCm39) |
F365L |
probably damaging |
Het |
Sntb1 |
T |
C |
15: 55,655,442 (GRCm39) |
D258G |
possibly damaging |
Het |
Sorbs1 |
A |
G |
19: 40,332,858 (GRCm39) |
I520T |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,797,860 (GRCm39) |
S1896P |
probably damaging |
Het |
Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,881,283 (GRCm39) |
|
probably benign |
Het |
Tars2 |
T |
C |
3: 95,662,067 (GRCm39) |
|
probably benign |
Het |
Tchhl1 |
C |
T |
3: 93,378,430 (GRCm39) |
A378V |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,352,760 (GRCm39) |
F1012Y |
probably damaging |
Het |
Tuba8 |
A |
G |
6: 121,199,913 (GRCm39) |
D199G |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,804,468 (GRCm39) |
T151S |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,346,654 (GRCm39) |
I2965T |
probably damaging |
Het |
Zfp688 |
T |
A |
7: 127,018,703 (GRCm39) |
M141L |
probably benign |
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 |
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 |
R5745:Smcr8
|
UTSW |
11 |
60,674,977 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
Posted On |
2016-08-02 |