Incidental Mutation 'R0346:Smcr8'
ID |
34286 |
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 |
038553-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0346 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60668351-60679113 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60670576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 575
(I575V)
|
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: I575V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055926 Gene: ENSMUSG00000049323 AA Change: I575V
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: I575V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099728 Gene: ENSMUSG00000049323 AA Change: I575V
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,516,278 (GRCm39) |
I4406L |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
Add3 |
C |
T |
19: 53,205,387 (GRCm39) |
R46* |
probably null |
Het |
Alas1 |
A |
T |
9: 106,120,550 (GRCm39) |
S82T |
possibly damaging |
Het |
Alkbh5 |
C |
G |
11: 60,429,567 (GRCm39) |
R107G |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,582,479 (GRCm39) |
R365* |
probably null |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,034,718 (GRCm39) |
D168G |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Caln1 |
C |
A |
5: 130,851,762 (GRCm39) |
H184N |
possibly damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Ccdc191 |
T |
C |
16: 43,759,315 (GRCm39) |
V372A |
probably damaging |
Het |
Ccng2 |
T |
G |
5: 93,418,753 (GRCm39) |
I126S |
probably damaging |
Het |
Cep85 |
A |
T |
4: 133,859,733 (GRCm39) |
N643K |
probably damaging |
Het |
Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
Cntn1 |
G |
T |
15: 92,129,968 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
T |
7: 144,006,276 (GRCm39) |
|
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,694 (GRCm39) |
S161G |
possibly damaging |
Het |
Dnajb13 |
T |
C |
7: 100,153,132 (GRCm39) |
D263G |
probably damaging |
Het |
Dppa4 |
T |
A |
16: 48,109,687 (GRCm39) |
|
probably benign |
Het |
Ear2 |
A |
G |
14: 44,340,363 (GRCm39) |
E7G |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,345,452 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
T |
2: 20,764,463 (GRCm39) |
|
probably null |
Het |
Fbxo15 |
T |
A |
18: 84,978,346 (GRCm39) |
|
probably null |
Het |
Gm9970 |
A |
G |
5: 31,398,182 (GRCm39) |
|
probably benign |
Het |
Hap1 |
A |
G |
11: 100,246,855 (GRCm39) |
S17P |
probably benign |
Het |
Hgd |
C |
T |
16: 37,409,136 (GRCm39) |
|
probably benign |
Het |
Ift56 |
T |
C |
6: 38,386,370 (GRCm39) |
C364R |
probably damaging |
Het |
Inpp5f |
T |
A |
7: 128,292,392 (GRCm39) |
L16Q |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,498,183 (GRCm39) |
D404G |
probably damaging |
Het |
Islr2 |
G |
A |
9: 58,105,626 (GRCm39) |
R545* |
probably null |
Het |
Itgav |
G |
T |
2: 83,622,953 (GRCm39) |
C675F |
probably damaging |
Het |
Kif13a |
T |
A |
13: 46,967,695 (GRCm39) |
I403L |
possibly damaging |
Het |
Kif14 |
T |
A |
1: 136,395,898 (GRCm39) |
I68N |
probably damaging |
Het |
Kif26a |
G |
T |
12: 112,145,782 (GRCm39) |
K1764N |
probably null |
Het |
Lrrd1 |
C |
A |
5: 3,900,215 (GRCm39) |
F173L |
probably benign |
Het |
Mroh4 |
G |
C |
15: 74,486,141 (GRCm39) |
|
probably benign |
Het |
Msh5 |
A |
G |
17: 35,248,864 (GRCm39) |
V723A |
probably benign |
Het |
Mybph |
T |
G |
1: 134,125,492 (GRCm39) |
I279S |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,151,152 (GRCm39) |
I1936L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,493,270 (GRCm39) |
T704S |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,254,333 (GRCm39) |
T2377K |
probably benign |
Het |
Nipbl |
T |
G |
15: 8,390,440 (GRCm39) |
Q276H |
probably damaging |
Het |
Nlrp9b |
T |
C |
7: 19,758,440 (GRCm39) |
L559P |
probably damaging |
Het |
Nup210l |
T |
A |
3: 90,096,745 (GRCm39) |
V1318E |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,480,283 (GRCm39) |
Y94H |
probably damaging |
Het |
Or4z4 |
A |
T |
19: 12,076,803 (GRCm39) |
S67T |
probably damaging |
Het |
Or6c8b |
C |
A |
10: 128,882,342 (GRCm39) |
V197F |
possibly damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,707 (GRCm39) |
S170P |
probably benign |
Het |
P2ry13 |
T |
C |
3: 59,116,987 (GRCm39) |
T264A |
possibly damaging |
Het |
Plekhg5 |
T |
C |
4: 152,198,710 (GRCm39) |
L966P |
probably benign |
Het |
Prss35 |
A |
G |
9: 86,637,404 (GRCm39) |
K58R |
probably benign |
Het |
Ptafr |
T |
A |
4: 132,307,390 (GRCm39) |
L260* |
probably null |
Het |
Pum1 |
A |
T |
4: 130,507,116 (GRCm39) |
T1157S |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
A |
G |
11: 44,445,991 (GRCm39) |
Y275C |
probably damaging |
Het |
Rpl6 |
A |
T |
5: 121,346,554 (GRCm39) |
K218N |
possibly damaging |
Het |
Rps6 |
T |
C |
4: 86,774,218 (GRCm39) |
T128A |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,767,013 (GRCm39) |
|
probably benign |
Het |
Scel |
A |
T |
14: 103,767,420 (GRCm39) |
Q26H |
probably damaging |
Het |
Sfxn4 |
A |
T |
19: 60,847,111 (GRCm39) |
D57E |
probably benign |
Het |
Slc35d1 |
A |
C |
4: 103,048,044 (GRCm39) |
L240R |
probably damaging |
Het |
Spata31e4 |
T |
C |
13: 50,857,346 (GRCm39) |
Y995H |
probably benign |
Het |
Syk |
G |
A |
13: 52,794,695 (GRCm39) |
M476I |
probably damaging |
Het |
Tbcel |
A |
T |
9: 42,348,539 (GRCm39) |
|
probably benign |
Het |
Tob2 |
C |
A |
15: 81,742,424 (GRCm39) |
G65W |
probably damaging |
Het |
Trim16 |
A |
G |
11: 62,731,520 (GRCm39) |
N464D |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,332,776 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
C |
A |
5: 114,768,590 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
T |
A |
1: 37,879,600 (GRCm39) |
T64S |
possibly damaging |
Het |
Vars2 |
A |
T |
17: 35,975,756 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
C |
A |
7: 11,403,621 (GRCm39) |
V276L |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,655,333 (GRCm39) |
K1898N |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,645 (GRCm39) |
M823V |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,197,484 (GRCm39) |
|
probably benign |
Het |
Zfp763 |
A |
T |
17: 33,238,721 (GRCm39) |
H141Q |
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 |
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'- TGTAGTCCGTAGCAAAGCGGTCAG -3'
(R):5'- GTCAGTGTTTTCCACTCCGAAGTCC -3'
Sequencing Primer
(F):5'- GGACAGCATTGAAGTCTTAAGTACC -3'
(R):5'- CCACACTGTCCTCATCAGAA -3'
|
Posted On |
2013-05-09 |