Incidental Mutation 'R7516:Smcr8'
ID |
582479 |
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 |
045589-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7516 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 60670814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 654
(C654F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055926
(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: C654F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000055926 Gene: ENSMUSG00000049323 AA Change: C654F
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: C654F
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000099728 Gene: ENSMUSG00000049323 AA Change: C654F
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
A |
14: 68,868,125 (GRCm39) |
I407F |
probably damaging |
Het |
Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
Alkbh5 |
T |
C |
11: 60,429,979 (GRCm39) |
V244A |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,058,538 (GRCm39) |
F1390L |
probably benign |
Het |
Asph |
T |
C |
4: 9,630,940 (GRCm39) |
D136G |
possibly damaging |
Het |
Atp8a2 |
A |
T |
14: 60,094,516 (GRCm39) |
Y841N |
probably damaging |
Het |
Cald1 |
A |
T |
6: 34,686,492 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
G |
17: 45,949,766 (GRCm39) |
I400T |
possibly damaging |
Het |
Cdh18 |
T |
A |
15: 23,259,684 (GRCm39) |
|
probably null |
Het |
Ces2h |
T |
A |
8: 105,743,458 (GRCm39) |
L204Q |
probably damaging |
Het |
Chrna3 |
G |
A |
9: 54,922,653 (GRCm39) |
A385V |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,672,009 (GRCm39) |
L311Q |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,721,448 (GRCm39) |
V1149A |
probably benign |
Het |
Clip3 |
T |
A |
7: 29,998,268 (GRCm39) |
V238D |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,520,192 (GRCm39) |
|
probably null |
Het |
Coro2a |
A |
G |
4: 46,562,992 (GRCm39) |
V54A |
probably benign |
Het |
Crem |
T |
C |
18: 3,299,141 (GRCm39) |
|
probably null |
Het |
Dennd5b |
T |
C |
6: 148,969,878 (GRCm39) |
I192V |
probably benign |
Het |
Dst |
A |
G |
1: 34,209,560 (GRCm39) |
N1209S |
probably benign |
Het |
Ero1a |
T |
A |
14: 45,525,480 (GRCm39) |
M385L |
probably benign |
Het |
Fam13a |
A |
T |
6: 58,932,248 (GRCm39) |
V375D |
probably damaging |
Het |
Fgfbp3 |
T |
A |
19: 36,896,324 (GRCm39) |
Y98F |
possibly damaging |
Het |
Frem3 |
T |
C |
8: 81,338,712 (GRCm39) |
V335A |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,263,433 (GRCm39) |
D951E |
probably benign |
Het |
Gpatch1 |
T |
C |
7: 35,007,625 (GRCm39) |
D145G |
probably benign |
Het |
H60c |
G |
T |
10: 3,209,746 (GRCm39) |
C180* |
probably null |
Het |
Hmcn1 |
T |
C |
1: 150,498,718 (GRCm39) |
T4054A |
probably benign |
Het |
Hrg |
A |
G |
16: 22,780,048 (GRCm39) |
Y442C |
unknown |
Het |
Hspg2 |
C |
T |
4: 137,269,931 (GRCm39) |
R2327C |
possibly damaging |
Het |
Klhl31 |
G |
T |
9: 77,558,429 (GRCm39) |
A382S |
probably damaging |
Het |
Knl1 |
T |
C |
2: 118,901,179 (GRCm39) |
V960A |
probably damaging |
Het |
Lztr1 |
C |
T |
16: 17,327,525 (GRCm39) |
A76V |
possibly damaging |
Het |
Me3 |
G |
T |
7: 89,497,183 (GRCm39) |
E395* |
probably null |
Het |
Morc2b |
G |
A |
17: 33,356,435 (GRCm39) |
H446Y |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,548,316 (GRCm39) |
M1054K |
probably benign |
Het |
Ms4a6b |
T |
C |
19: 11,506,907 (GRCm39) |
V232A |
probably benign |
Het |
Nmt2 |
C |
A |
2: 3,313,767 (GRCm39) |
D224E |
probably damaging |
Het |
Nox4 |
C |
A |
7: 86,970,905 (GRCm39) |
R261S |
probably benign |
Het |
Obscn |
T |
A |
11: 59,015,416 (GRCm39) |
K1019* |
probably null |
Het |
Or4a15 |
T |
A |
2: 89,193,719 (GRCm39) |
N18I |
probably benign |
Het |
Or4g7 |
T |
A |
2: 111,309,282 (GRCm39) |
V51D |
probably benign |
Het |
Or5p67 |
G |
A |
7: 107,922,223 (GRCm39) |
S220F |
probably damaging |
Het |
Or8k24 |
C |
T |
2: 86,216,328 (GRCm39) |
V145I |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,144,671 (GRCm39) |
N254I |
probably damaging |
Het |
Pck2 |
T |
A |
14: 55,779,913 (GRCm39) |
I54N |
probably benign |
Het |
Pkd1l3 |
T |
A |
8: 110,361,861 (GRCm39) |
W978R |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,214,703 (GRCm39) |
T593A |
probably benign |
Het |
Podn |
G |
A |
4: 107,879,321 (GRCm39) |
R266W |
probably damaging |
Het |
Ptpn22 |
A |
G |
3: 103,792,854 (GRCm39) |
D335G |
probably benign |
Het |
Pxn |
A |
G |
5: 115,644,922 (GRCm39) |
D3G |
unknown |
Het |
Rapgefl1 |
T |
G |
11: 98,736,960 (GRCm39) |
V320G |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,785 (GRCm39) |
I416T |
probably benign |
Het |
Sema5b |
A |
G |
16: 35,471,540 (GRCm39) |
N378D |
probably benign |
Het |
Sh3bp4 |
C |
A |
1: 89,073,368 (GRCm39) |
L739M |
probably damaging |
Het |
Skint2 |
A |
T |
4: 112,483,168 (GRCm39) |
D191V |
probably damaging |
Het |
Slc3a1 |
T |
C |
17: 85,371,190 (GRCm39) |
Y581H |
probably damaging |
Het |
Spta1 |
A |
C |
1: 174,025,349 (GRCm39) |
Q738P |
probably damaging |
Het |
Sptlc3 |
C |
A |
2: 139,431,438 (GRCm39) |
A320D |
probably benign |
Het |
Thnsl2 |
T |
A |
6: 71,108,990 (GRCm39) |
K274* |
probably null |
Het |
Tmed2 |
T |
A |
5: 124,685,055 (GRCm39) |
I68K |
possibly damaging |
Het |
Tmtc4 |
G |
A |
14: 123,180,735 (GRCm39) |
A326V |
possibly damaging |
Het |
Tnks2 |
T |
A |
19: 36,849,064 (GRCm39) |
S179T |
possibly damaging |
Het |
Trim34b |
G |
T |
7: 103,978,918 (GRCm39) |
C55F |
probably damaging |
Het |
Trpm4 |
T |
A |
7: 44,954,444 (GRCm39) |
E1129V |
probably damaging |
Het |
Tvp23b |
T |
C |
11: 62,782,867 (GRCm39) |
S188P |
possibly damaging |
Het |
Usp1 |
A |
G |
4: 98,822,356 (GRCm39) |
T557A |
probably damaging |
Het |
Vmn2r66 |
C |
T |
7: 84,661,176 (GRCm39) |
C18Y |
possibly damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,254,852 (GRCm39) |
T611S |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,862,289 (GRCm39) |
S2969P |
possibly damaging |
Het |
Wdr74 |
T |
A |
19: 8,713,554 (GRCm39) |
C62* |
probably null |
Het |
Wfikkn1 |
A |
T |
17: 26,097,020 (GRCm39) |
C435S |
probably damaging |
Het |
Zbtb45 |
A |
T |
7: 12,740,269 (GRCm39) |
F449I |
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 |
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 |
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'- GACTCCAGCTGCTGTATTGG -3'
(R):5'- CGGATGAATTTTAAGGCATTCTGG -3'
Sequencing Primer
(F):5'- ACTCCAGCTGCTGTATTGGAAAGG -3'
(R):5'- GCATTCTGGCCAGCTCTC -3'
|
Posted On |
2019-10-17 |