Incidental Mutation 'R0197:Smcr8'
ID |
23507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smcr8
|
Ensembl Gene |
ENSMUSG00000049323 |
Gene Name |
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) |
Synonyms |
2310076G09Rik, D030073L15Rik |
MMRRC Submission |
038456-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60668941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 30
(Y30H)
|
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: Y30H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055926 Gene: ENSMUSG00000049323 AA Change: Y30H
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: Y30H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099728 Gene: ENSMUSG00000049323 AA Change: Y30H
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 |
|
Meta Mutation Damage Score |
0.2447 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.5%
- 20x: 75.9%
|
Validation Efficiency |
97% (121/125) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,775,632 (GRCm39) |
L1607P |
probably damaging |
Het |
1700016H13Rik |
T |
C |
5: 103,796,687 (GRCm39) |
*118W |
probably null |
Het |
Abcc2 |
A |
T |
19: 43,815,053 (GRCm39) |
R1147* |
probably null |
Het |
Acsbg3 |
A |
T |
17: 57,190,835 (GRCm39) |
N468Y |
probably benign |
Het |
Agap2 |
A |
G |
10: 126,927,571 (GRCm39) |
T1131A |
possibly damaging |
Het |
Aldh9a1 |
A |
G |
1: 167,189,416 (GRCm39) |
D388G |
probably damaging |
Het |
Ap3d1 |
G |
T |
10: 80,565,876 (GRCm39) |
A97E |
probably damaging |
Het |
Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
Baiap2l1 |
C |
A |
5: 144,202,820 (GRCm39) |
V498L |
probably damaging |
Het |
Bltp2 |
A |
C |
11: 78,160,530 (GRCm39) |
|
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,762,633 (GRCm39) |
N437S |
probably benign |
Het |
Cert1 |
T |
A |
13: 96,685,795 (GRCm39) |
Y63N |
probably benign |
Het |
Cfap119 |
T |
C |
7: 127,184,034 (GRCm39) |
E261G |
probably damaging |
Het |
Cfap20dc |
C |
T |
14: 8,518,695 (GRCm38) |
G254R |
probably damaging |
Het |
Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
Cstf2t |
A |
T |
19: 31,062,026 (GRCm39) |
M521L |
probably benign |
Het |
Dlx5 |
T |
C |
6: 6,881,619 (GRCm39) |
K90E |
possibly damaging |
Het |
Dmp1 |
A |
G |
5: 104,355,496 (GRCm39) |
E32G |
possibly damaging |
Het |
Espnl |
T |
G |
1: 91,272,211 (GRCm39) |
Y524D |
probably damaging |
Het |
Fam20c |
T |
C |
5: 138,741,479 (GRCm39) |
L30P |
probably damaging |
Het |
Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,931,732 (GRCm39) |
V337D |
probably damaging |
Het |
Gart |
C |
A |
16: 91,420,291 (GRCm39) |
D851Y |
possibly damaging |
Het |
Gcc1 |
T |
C |
6: 28,420,615 (GRCm39) |
H234R |
probably damaging |
Het |
Gemin6 |
T |
A |
17: 80,535,524 (GRCm39) |
H161Q |
probably damaging |
Het |
Glt6d1 |
A |
G |
2: 25,684,082 (GRCm39) |
I308T |
probably benign |
Het |
Gm10320 |
T |
C |
13: 98,628,491 (GRCm39) |
T7A |
probably benign |
Het |
Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
Gmpr2 |
T |
A |
14: 55,910,192 (GRCm39) |
D7E |
possibly damaging |
Het |
Hc |
A |
G |
2: 34,874,762 (GRCm39) |
Y1620H |
probably damaging |
Het |
Hoxa3 |
T |
C |
6: 52,147,123 (GRCm39) |
|
probably benign |
Het |
Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
Kdr |
G |
T |
5: 76,129,082 (GRCm39) |
T188N |
possibly damaging |
Het |
Lepr |
A |
T |
4: 101,609,349 (GRCm39) |
D312V |
possibly damaging |
Het |
Mcm3 |
A |
G |
1: 20,880,329 (GRCm39) |
V501A |
probably damaging |
Het |
Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
Med13l |
T |
C |
5: 118,809,067 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
Ndrg2 |
T |
A |
14: 52,144,460 (GRCm39) |
|
probably benign |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,543 (GRCm39) |
S365T |
possibly damaging |
Het |
Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
Or51e1 |
T |
A |
7: 102,359,202 (GRCm39) |
H245Q |
probably damaging |
Het |
Pds5b |
C |
A |
5: 150,677,896 (GRCm39) |
Q505K |
probably benign |
Het |
Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
Rpl6 |
T |
C |
5: 121,346,541 (GRCm39) |
V214A |
probably benign |
Het |
Samd3 |
T |
A |
10: 26,147,752 (GRCm39) |
C476S |
possibly damaging |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Shank1 |
C |
T |
7: 44,001,718 (GRCm39) |
R1146W |
unknown |
Het |
Smpd4 |
T |
A |
16: 17,459,461 (GRCm39) |
|
probably null |
Het |
Strip1 |
C |
A |
3: 107,521,929 (GRCm39) |
D750Y |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,070,851 (GRCm39) |
K2312E |
possibly damaging |
Het |
Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
Tnfaip1 |
A |
T |
11: 78,420,840 (GRCm39) |
|
probably benign |
Het |
Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
Usp24 |
T |
A |
4: 106,264,330 (GRCm39) |
W1754R |
probably damaging |
Het |
Utp20 |
G |
A |
10: 88,613,378 (GRCm39) |
P1301L |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
Vps41 |
T |
G |
13: 19,038,833 (GRCm39) |
|
probably null |
Het |
Vps72 |
G |
T |
3: 95,029,894 (GRCm39) |
L304F |
probably damaging |
Het |
Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,978,119 (GRCm39) |
T765A |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,976,500 (GRCm39) |
H923L |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,742,799 (GRCm39) |
|
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGCAAGAACTTCGTTTTCGCATCC -3'
(R):5'- CTGGTAATCCACCGACATAATCCGC -3'
Sequencing Primer
(F):5'- TCGTTTTCGCATCCAGAGG -3'
(R):5'- CGACATAATCCGCAAAGAGAAG -3'
|
Posted On |
2013-04-16 |