Incidental Mutation 'R6041:Smcr8'
| ID |
483561 |
| 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 |
044209-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60670394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 514
(D514G)
|
| 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: D514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: D514G
| 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: D514G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: D514G
| 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 |
0.3009 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,595,354 (GRCm39) |
M297K |
probably damaging |
Het |
| Ace |
A |
C |
11: 105,866,134 (GRCm39) |
H34P |
probably benign |
Het |
| Agbl2 |
A |
T |
2: 90,638,371 (GRCm39) |
N652I |
probably benign |
Het |
| Auh |
T |
A |
13: 53,073,122 (GRCm39) |
L86F |
possibly damaging |
Het |
| Bmp10 |
A |
G |
6: 87,411,302 (GRCm39) |
K365R |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,314 (GRCm39) |
S2086T |
probably damaging |
Het |
| Calcoco1 |
C |
A |
15: 102,626,374 (GRCm39) |
R105L |
possibly damaging |
Het |
| Casc3 |
T |
G |
11: 98,719,385 (GRCm39) |
V509G |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,748,131 (GRCm39) |
V472A |
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,458,852 (GRCm39) |
S142C |
probably damaging |
Het |
| Derl3 |
T |
C |
10: 75,729,335 (GRCm39) |
L26P |
probably damaging |
Het |
| Dgkh |
C |
T |
14: 78,825,067 (GRCm39) |
A863T |
probably damaging |
Het |
| Dhx30 |
C |
T |
9: 109,913,666 (GRCm39) |
R1127Q |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,324,037 (GRCm39) |
S1116P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,328,805 (GRCm39) |
V3179A |
probably benign |
Het |
| Dnajb11 |
A |
T |
16: 22,687,471 (GRCm39) |
N156I |
probably benign |
Het |
| Dpep1 |
A |
T |
8: 123,927,394 (GRCm39) |
E316V |
probably damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,193 (GRCm39) |
M270K |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,617 (GRCm39) |
F221I |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,668 (GRCm39) |
D173E |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,414 (GRCm39) |
D421E |
probably damaging |
Het |
| Gfm2 |
T |
A |
13: 97,309,131 (GRCm39) |
V612E |
probably benign |
Het |
| Gm17655 |
T |
G |
5: 110,195,439 (GRCm39) |
K114N |
possibly damaging |
Het |
| Gm45844 |
C |
A |
7: 7,281,183 (GRCm39) |
|
probably benign |
Het |
| Gpr142 |
A |
T |
11: 114,697,203 (GRCm39) |
I250F |
probably damaging |
Het |
| Hexa |
A |
G |
9: 59,470,519 (GRCm39) |
Q447R |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,148,568 (GRCm39) |
L780P |
probably benign |
Het |
| Lrrk1 |
T |
C |
7: 65,911,881 (GRCm39) |
D1893G |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,407,641 (GRCm39) |
I139F |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,313,621 (GRCm39) |
T22S |
probably benign |
Het |
| Mup-ps1 |
C |
A |
4: 60,088,549 (GRCm39) |
|
noncoding transcript |
Het |
| Myh13 |
A |
T |
11: 67,255,556 (GRCm39) |
E1642V |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,913,068 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,353,748 (GRCm39) |
D1765V |
probably damaging |
Het |
| Npy5r |
A |
T |
8: 67,134,675 (GRCm39) |
N39K |
possibly damaging |
Het |
| Or5m13b |
G |
A |
2: 85,753,735 (GRCm39) |
G41D |
probably damaging |
Het |
| Pax6 |
A |
G |
2: 105,514,247 (GRCm39) |
I29V |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,178,436 (GRCm39) |
Y307H |
probably benign |
Het |
| Pmf1 |
A |
C |
3: 88,303,358 (GRCm39) |
Y68D |
probably damaging |
Het |
| Psen2 |
C |
A |
1: 180,073,292 (GRCm39) |
E10* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,726,080 (GRCm39) |
M991L |
probably benign |
Het |
| R3hdm4 |
A |
G |
10: 79,749,495 (GRCm39) |
V20A |
possibly damaging |
Het |
| Rad17 |
T |
C |
13: 100,754,274 (GRCm39) |
N649D |
probably benign |
Het |
| Rad9b |
A |
T |
5: 122,489,415 (GRCm39) |
C38S |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,469 (GRCm39) |
M1296V |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,678,439 (GRCm39) |
S796P |
probably damaging |
Het |
| Rpl10-ps3 |
A |
G |
9: 50,256,082 (GRCm39) |
S54P |
probably benign |
Het |
| Sclt1 |
T |
A |
3: 41,581,612 (GRCm39) |
I688F |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,535 (GRCm39) |
I1778T |
probably damaging |
Het |
| Scrib |
C |
T |
15: 75,939,021 (GRCm39) |
R159Q |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,097 (GRCm39) |
E441K |
probably damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,389,024 (GRCm39) |
F417I |
probably damaging |
Het |
| Slco1a7 |
A |
C |
6: 141,684,764 (GRCm39) |
D230E |
probably benign |
Het |
| Tbc1d23 |
T |
G |
16: 56,993,513 (GRCm39) |
D551A |
probably benign |
Het |
| Tet1 |
G |
T |
10: 62,649,152 (GRCm39) |
T149N |
probably damaging |
Het |
| Them4 |
A |
T |
3: 94,224,806 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,206,864 (GRCm39) |
I1666V |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,106,604 (GRCm39) |
N378T |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,231 (GRCm39) |
R575G |
probably benign |
Het |
| Zfp941 |
A |
T |
7: 140,392,158 (GRCm39) |
C400* |
probably null |
Het |
| Zswim5 |
A |
C |
4: 116,819,818 (GRCm39) |
S408R |
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 |
|
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 |
|
|
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'- CCAAGAGAACCTGGACTACCTG -3'
(R):5'- TCCAATACAGCAGCTGGAGTC -3'
Sequencing Primer
(F):5'- CTGGACTACCTGGATATGGATATG -3'
(R):5'- CCAATACAGCAGCTGGAGTCTATTTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation