Incidental Mutation 'R3767:Smcr8'
ID |
273072 |
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 |
040744-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3767 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60670330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 493
(T493A)
|
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: T493A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000055926 Gene: ENSMUSG00000049323 AA Change: T493A
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: T493A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099728 Gene: ENSMUSG00000049323 AA Change: T493A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adipoq |
T |
A |
16: 22,975,938 (GRCm39) |
V134E |
possibly damaging |
Het |
Agmat |
A |
G |
4: 141,483,273 (GRCm39) |
T236A |
probably benign |
Het |
Anxa9 |
T |
C |
3: 95,208,425 (GRCm39) |
N197S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Axdnd1 |
G |
A |
1: 156,208,428 (GRCm39) |
T470M |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cdh3 |
A |
T |
8: 107,263,606 (GRCm39) |
|
probably null |
Het |
Cep85l |
A |
T |
10: 53,167,906 (GRCm39) |
I624K |
probably benign |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,406,292 (GRCm39) |
D2313E |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Exo1 |
C |
T |
1: 175,714,312 (GRCm39) |
P73L |
probably damaging |
Het |
Fgfrl1 |
C |
A |
5: 108,853,242 (GRCm39) |
H197Q |
possibly damaging |
Het |
Fsbp |
G |
A |
4: 11,583,706 (GRCm39) |
G135D |
probably damaging |
Het |
Herc3 |
G |
A |
6: 58,839,973 (GRCm39) |
R362H |
probably benign |
Het |
Herc3 |
T |
C |
6: 58,853,587 (GRCm39) |
F583L |
probably benign |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Ighv1-54 |
A |
G |
12: 115,157,596 (GRCm39) |
V17A |
possibly damaging |
Het |
Kcnh5 |
A |
G |
12: 75,134,350 (GRCm39) |
Y400H |
possibly damaging |
Het |
Kcnk16 |
T |
A |
14: 20,319,230 (GRCm39) |
M1L |
possibly damaging |
Het |
Kctd19 |
T |
C |
8: 106,123,112 (GRCm39) |
T101A |
probably benign |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lonp1 |
T |
C |
17: 56,928,952 (GRCm39) |
E270G |
possibly damaging |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Mrc1 |
A |
G |
2: 14,323,981 (GRCm39) |
Y1106C |
probably damaging |
Het |
Mybpc1 |
G |
T |
10: 88,406,521 (GRCm39) |
|
probably null |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
Nlrp4e |
G |
T |
7: 23,039,988 (GRCm39) |
L770F |
probably damaging |
Het |
Npas3 |
A |
G |
12: 54,115,857 (GRCm39) |
*895W |
probably null |
Het |
Nphs2 |
T |
C |
1: 156,140,608 (GRCm39) |
I115T |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Or8g22 |
T |
A |
9: 38,958,707 (GRCm39) |
H47L |
unknown |
Het |
Patj |
A |
T |
4: 98,569,456 (GRCm39) |
K1128* |
probably null |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,812,851 (GRCm39) |
R123S |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,769,076 (GRCm39) |
Y323* |
probably null |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
Selenoi |
A |
G |
5: 30,461,187 (GRCm39) |
Y141C |
probably damaging |
Het |
Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,530,781 (GRCm39) |
Y277F |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,697,882 (GRCm39) |
G228R |
probably damaging |
Het |
Xab2 |
T |
C |
8: 3,669,053 (GRCm39) |
N31S |
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 |
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 |
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'- ACTTGGCGATGAAGAGTACACG -3'
(R):5'- TCTCATCCGGTTCTGGTGAG -3'
Sequencing Primer
(F):5'- TACACGGGGGTGGAGGC -3'
(R):5'- GAAATGGATGGCCCCCTCATTATC -3'
|
Posted On |
2015-03-25 |