Incidental Mutation 'IGL02390:Smcr8'
ID |
294240 |
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 # |
IGL02390
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 60670548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 565
(D565E)
|
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 benign
Transcript: ENSMUST00000056907
AA Change: D565E
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000055926 Gene: ENSMUSG00000049323 AA Change: D565E
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: D565E
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000099728 Gene: ENSMUSG00000049323 AA Change: D565E
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 |
Abca5 |
T |
C |
11: 110,187,377 (GRCm39) |
K894R |
probably benign |
Het |
Ampd1 |
C |
T |
3: 102,986,357 (GRCm39) |
A12V |
probably benign |
Het |
Ano4 |
T |
A |
10: 88,860,843 (GRCm39) |
D345V |
possibly damaging |
Het |
Arl6 |
A |
G |
16: 59,441,580 (GRCm39) |
|
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atrn |
C |
T |
2: 130,862,897 (GRCm39) |
P1326S |
possibly damaging |
Het |
Btbd9 |
A |
G |
17: 30,743,788 (GRCm39) |
V238A |
probably benign |
Het |
Cdh16 |
T |
C |
8: 105,348,606 (GRCm39) |
T141A |
probably damaging |
Het |
Cetn4 |
T |
C |
3: 37,363,305 (GRCm39) |
D102G |
probably damaging |
Het |
Col5a3 |
T |
A |
9: 20,688,292 (GRCm39) |
N1256I |
unknown |
Het |
Cyfip2 |
A |
G |
11: 46,112,225 (GRCm39) |
F993L |
possibly damaging |
Het |
Dcaf6 |
T |
A |
1: 165,250,490 (GRCm39) |
I125F |
possibly damaging |
Het |
Dclk2 |
A |
C |
3: 86,731,990 (GRCm39) |
S336A |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,049,819 (GRCm39) |
V4327I |
probably benign |
Het |
Ebna1bp2 |
T |
C |
4: 118,478,694 (GRCm39) |
V59A |
possibly damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
F2 |
A |
T |
2: 91,463,332 (GRCm39) |
V184D |
possibly damaging |
Het |
Fbxo38 |
C |
T |
18: 62,666,660 (GRCm39) |
R171H |
probably damaging |
Het |
Fhod3 |
A |
C |
18: 25,199,332 (GRCm39) |
S668R |
probably benign |
Het |
Fkbp10 |
T |
A |
11: 100,306,843 (GRCm39) |
F78L |
probably damaging |
Het |
Garre1 |
T |
C |
7: 33,947,643 (GRCm39) |
D455G |
probably damaging |
Het |
Hyi |
C |
T |
4: 118,219,810 (GRCm39) |
R254C |
probably benign |
Het |
Igfl3 |
A |
T |
7: 17,915,659 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
Lrrc8a |
C |
A |
2: 30,146,713 (GRCm39) |
P509Q |
probably damaging |
Het |
Mapkap1 |
T |
A |
2: 34,322,101 (GRCm39) |
N6K |
probably damaging |
Het |
Mdh1b |
T |
A |
1: 63,760,716 (GRCm39) |
H115L |
probably benign |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mrpl15 |
T |
C |
1: 4,855,837 (GRCm39) |
S22G |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,456,761 (GRCm39) |
Y616H |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,302,502 (GRCm39) |
|
probably benign |
Het |
Olig1 |
C |
A |
16: 91,067,041 (GRCm39) |
Q93K |
probably damaging |
Het |
Or13d1 |
T |
A |
4: 52,971,263 (GRCm39) |
I214N |
probably damaging |
Het |
Or1o1 |
A |
T |
17: 37,716,986 (GRCm39) |
L182F |
probably benign |
Het |
Or4f59 |
A |
T |
2: 111,873,056 (GRCm39) |
V107E |
possibly damaging |
Het |
Otoa |
C |
A |
7: 120,730,590 (GRCm39) |
L597M |
possibly damaging |
Het |
Parp16 |
C |
T |
9: 65,141,051 (GRCm39) |
P207L |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,754,467 (GRCm39) |
D162E |
probably benign |
Het |
Pramel21 |
T |
A |
4: 143,341,895 (GRCm39) |
M108K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,264,685 (GRCm39) |
I658V |
possibly damaging |
Het |
Psg21 |
A |
T |
7: 18,386,556 (GRCm39) |
H143Q |
probably benign |
Het |
Rfx4 |
C |
T |
10: 84,676,014 (GRCm39) |
R28W |
probably damaging |
Het |
Sart1 |
T |
G |
19: 5,430,489 (GRCm39) |
M753L |
possibly damaging |
Het |
Smyd4 |
T |
A |
11: 75,278,332 (GRCm39) |
|
probably null |
Het |
Sned1 |
T |
C |
1: 93,189,386 (GRCm39) |
V274A |
probably benign |
Het |
Tbc1d13 |
T |
C |
2: 30,027,399 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,697,534 (GRCm39) |
I423N |
possibly damaging |
Het |
Tsc2 |
A |
T |
17: 24,819,427 (GRCm39) |
V1232D |
probably damaging |
Het |
Uckl1 |
C |
T |
2: 181,216,212 (GRCm39) |
V178I |
possibly damaging |
Het |
Usp13 |
T |
A |
3: 32,985,865 (GRCm39) |
Y175* |
probably null |
Het |
Vwde |
A |
G |
6: 13,190,684 (GRCm39) |
V469A |
probably damaging |
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 |
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 |
IGL03286:Smcr8
|
APN |
11 |
60,668,853 (GRCm39) |
unclassified |
probably benign |
|
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 |
2015-04-16 |