Incidental Mutation 'R9218:Smcr8'
| ID |
699326 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9218 (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 T
at 60670705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 618
(I618L)
|
| 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: I618L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000055926
Gene: ENSMUSG00000049323
AA Change: I618L
| 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: I618L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099728
Gene: ENSMUSG00000049323
AA Change: I618L
| 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: 99.1%
|
| Validation Efficiency |
93% (57/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,610,460 (GRCm39) |
T378A |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,977,960 (GRCm39) |
M513V |
probably benign |
Het |
| Abhd18 |
T |
C |
3: 40,871,201 (GRCm39) |
|
probably null |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,404 (GRCm39) |
Y561* |
probably null |
Het |
| Alx4 |
T |
A |
2: 93,473,172 (GRCm39) |
F57I |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,584,959 (GRCm39) |
|
probably null |
Het |
| Arsj |
A |
C |
3: 126,232,114 (GRCm39) |
N287H |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,114,529 (GRCm39) |
C1387S |
probably benign |
Het |
| Cabp4 |
T |
A |
19: 4,188,693 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
C |
T |
7: 130,863,728 (GRCm39) |
H1244Y |
unknown |
Het |
| Cdh6 |
T |
C |
15: 13,057,556 (GRCm39) |
N255S |
probably null |
Het |
| Ctrb1 |
C |
T |
8: 112,416,140 (GRCm39) |
V49M |
probably damaging |
Het |
| Cts3 |
A |
G |
13: 61,716,583 (GRCm39) |
S18P |
possibly damaging |
Het |
| Dcst1 |
A |
T |
3: 89,272,412 (GRCm39) |
I17N |
probably benign |
Het |
| Dennd5a |
G |
A |
7: 109,507,592 (GRCm39) |
H823Y |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,651,066 (GRCm39) |
L84R |
possibly damaging |
Het |
| Dock9 |
G |
T |
14: 121,905,871 (GRCm39) |
T93K |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,823,062 (GRCm39) |
P6265L |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,239,388 (GRCm39) |
K168M |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,922,203 (GRCm39) |
L541P |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,354 (GRCm39) |
H364R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Inf2 |
G |
A |
12: 112,567,858 (GRCm39) |
D163N |
possibly damaging |
Het |
| Iqcd |
C |
T |
5: 120,738,707 (GRCm39) |
P175L |
possibly damaging |
Het |
| Iqck |
C |
T |
7: 118,540,902 (GRCm39) |
A267V |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,135,938 (GRCm39) |
N66I |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,541,583 (GRCm39) |
E1239V |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,871,816 (GRCm39) |
D362G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,361,098 (GRCm39) |
S1470T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,183,638 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,312 (GRCm39) |
L151* |
probably null |
Het |
| Or4e1 |
A |
T |
14: 52,700,788 (GRCm39) |
V226E |
probably damaging |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,373 (GRCm39) |
I230T |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,542,469 (GRCm39) |
Q693L |
probably benign |
Het |
| Pitpnm2 |
G |
A |
5: 124,265,344 (GRCm39) |
S753F |
probably damaging |
Het |
| Pkd1l3 |
C |
A |
8: 110,382,128 (GRCm39) |
S1632* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,122 (GRCm39) |
T1171A |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,501 (GRCm39) |
F104L |
probably damaging |
Het |
| Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
| Pms2 |
G |
A |
5: 143,867,945 (GRCm39) |
V850I |
probably benign |
Het |
| Psmd5 |
G |
T |
2: 34,747,794 (GRCm39) |
Q288K |
probably benign |
Het |
| Rab37 |
G |
A |
11: 115,051,475 (GRCm39) |
R194H |
probably damaging |
Het |
| Sds |
C |
T |
5: 120,621,677 (GRCm39) |
A273V |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,890,480 (GRCm39) |
S776P |
probably benign |
Het |
| Sh3tc2 |
T |
C |
18: 62,101,101 (GRCm39) |
C65R |
probably benign |
Het |
| Siglece |
C |
T |
7: 43,307,162 (GRCm39) |
R275H |
possibly damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,335,623 (GRCm39) |
A318T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,556 (GRCm39) |
F72L |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,049 (GRCm39) |
K135E |
possibly damaging |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Tnpo2 |
C |
A |
8: 85,776,609 (GRCm39) |
H439N |
possibly damaging |
Het |
| Tut4 |
A |
T |
4: 108,370,083 (GRCm39) |
K661* |
probably null |
Het |
| Txlnb |
C |
T |
10: 17,718,570 (GRCm39) |
S467F |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,435,948 (GRCm39) |
P81S |
probably damaging |
Het |
| Vamp2 |
A |
G |
11: 68,980,585 (GRCm39) |
D51G |
possibly damaging |
Het |
| Vmn1r220 |
T |
A |
13: 23,368,609 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,270 (GRCm39) |
T699A |
possibly damaging |
Het |
| Vps9d1 |
G |
A |
8: 123,977,674 (GRCm39) |
T87I |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,520,501 (GRCm39) |
V541A |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,809,415 (GRCm39) |
L295Q |
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 |
|
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 |
|
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'- CCTATGCGGATAATGAGGGG -3'
(R):5'- CACTGCCCATGTAGCTAGTG -3'
Sequencing Primer
(F):5'- ATAATGAGGGGGCCATCCATTTCC -3'
(R):5'- ACTGCCCATGTAGCTAGTGGTATC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation