Incidental Mutation 'IGL01380:Smc4'
ID |
78821 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smc4
|
Ensembl Gene |
ENSMUSG00000034349 |
Gene Name |
structural maintenance of chromosomes 4 |
Synonyms |
Smc4l1, 2500002A22Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
IGL01380
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 68933161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 54
(D54G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000148385]
[ENSMUST00000195525]
|
AlphaFold |
Q8CG47 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042901
AA Change: D619G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047872 Gene: ENSMUSG00000034349 AA Change: D619G
Domain | Start | End | E-Value | Type |
PDB:1W1W|D
|
89 |
238 |
1e-17 |
PDB |
Blast:AAA
|
104 |
238 |
3e-6 |
BLAST |
low complexity region
|
408 |
427 |
N/A |
INTRINSIC |
low complexity region
|
447 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
482 |
N/A |
INTRINSIC |
low complexity region
|
545 |
567 |
N/A |
INTRINSIC |
SMC_hinge
|
611 |
726 |
1.12e-31 |
SMART |
low complexity region
|
870 |
881 |
N/A |
INTRINSIC |
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
Blast:AAA
|
1102 |
1276 |
5e-26 |
BLAST |
PDB:3KTA|D
|
1125 |
1276 |
3e-30 |
PDB |
SCOP:d1e69a_
|
1188 |
1263 |
3e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107803
AA Change: D594G
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103433 Gene: ENSMUSG00000034349 AA Change: D594G
Domain | Start | End | E-Value | Type |
Pfam:AAA_23
|
59 |
329 |
1.3e-12 |
PFAM |
Pfam:AAA_21
|
81 |
199 |
5.2e-7 |
PFAM |
coiled coil region
|
369 |
482 |
N/A |
INTRINSIC |
coiled coil region
|
511 |
563 |
N/A |
INTRINSIC |
SMC_hinge
|
586 |
701 |
8.6e-36 |
SMART |
Pfam:SMC_N
|
738 |
1247 |
1.1e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128118
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148385
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149174
AA Change: D54G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156354
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194693
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,840,053 (GRCm39) |
T42A |
probably benign |
Het |
Abcc10 |
C |
A |
17: 46,634,948 (GRCm39) |
V352L |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,766,724 (GRCm39) |
M488K |
probably benign |
Het |
Ano8 |
A |
G |
8: 71,933,453 (GRCm39) |
|
probably benign |
Het |
Atp2a1 |
T |
A |
7: 126,047,942 (GRCm39) |
M623L |
possibly damaging |
Het |
Atxn10 |
G |
T |
15: 85,260,896 (GRCm39) |
E214* |
probably null |
Het |
Btla |
A |
C |
16: 45,070,716 (GRCm39) |
D225A |
probably benign |
Het |
C030048H21Rik |
G |
A |
2: 26,146,659 (GRCm39) |
Q1218* |
probably null |
Het |
Cacna1a |
A |
G |
8: 85,285,746 (GRCm39) |
Y750C |
probably damaging |
Het |
Ccdc15 |
A |
T |
9: 37,187,853 (GRCm39) |
|
probably benign |
Het |
Ccdc18 |
T |
A |
5: 108,328,753 (GRCm39) |
I724N |
probably damaging |
Het |
Cluh |
T |
A |
11: 74,556,772 (GRCm39) |
F937L |
probably benign |
Het |
Clybl |
G |
T |
14: 122,616,761 (GRCm39) |
A259S |
probably benign |
Het |
Cyp4f39 |
T |
G |
17: 32,700,832 (GRCm39) |
I167S |
probably damaging |
Het |
Dchs1 |
T |
A |
7: 105,411,418 (GRCm39) |
D1566V |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,525,787 (GRCm39) |
A3867T |
probably damaging |
Het |
Dtwd1 |
T |
A |
2: 126,001,847 (GRCm39) |
L189Q |
probably benign |
Het |
Dusp10 |
T |
C |
1: 183,801,211 (GRCm39) |
I326T |
possibly damaging |
Het |
Eaf1 |
T |
A |
14: 31,219,767 (GRCm39) |
|
probably benign |
Het |
Eif3c |
C |
T |
7: 126,163,585 (GRCm39) |
|
probably benign |
Het |
Fam169a |
C |
T |
13: 97,228,459 (GRCm39) |
T44M |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,570,782 (GRCm39) |
|
probably benign |
Het |
Fam25a |
C |
T |
14: 34,075,655 (GRCm39) |
A46T |
probably null |
Het |
Gckr |
A |
G |
5: 31,456,977 (GRCm39) |
|
probably benign |
Het |
Gfra2 |
G |
T |
14: 71,204,586 (GRCm39) |
|
probably benign |
Het |
Gm8237 |
A |
T |
14: 5,863,703 (GRCm38) |
|
probably null |
Het |
H2-Eb2 |
G |
T |
17: 34,554,783 (GRCm39) |
L228F |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,914,261 (GRCm39) |
N1736S |
probably benign |
Het |
Izumo1 |
T |
G |
7: 45,276,519 (GRCm39) |
S361A |
probably benign |
Het |
Klri1 |
T |
C |
6: 129,675,761 (GRCm39) |
I170V |
probably benign |
Het |
L3mbtl2 |
C |
T |
15: 81,555,326 (GRCm39) |
A193V |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,567,544 (GRCm39) |
M105K |
possibly damaging |
Het |
Lrpprc |
T |
C |
17: 85,030,158 (GRCm39) |
D1080G |
probably benign |
Het |
Lrrc74a |
A |
T |
12: 86,808,496 (GRCm39) |
M425L |
possibly damaging |
Het |
Mfsd13a |
G |
T |
19: 46,356,347 (GRCm39) |
D151Y |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,961,787 (GRCm39) |
E640K |
probably damaging |
Het |
Napsa |
T |
C |
7: 44,236,098 (GRCm39) |
V379A |
probably damaging |
Het |
Or1e16 |
A |
T |
11: 73,286,017 (GRCm39) |
M277K |
probably damaging |
Het |
Or55b4 |
C |
T |
7: 102,133,592 (GRCm39) |
C245Y |
probably damaging |
Het |
Or7c19 |
C |
A |
8: 85,957,775 (GRCm39) |
S217Y |
probably damaging |
Het |
Or7c19 |
A |
T |
8: 85,957,958 (GRCm39) |
Y278F |
possibly damaging |
Het |
Otop3 |
T |
C |
11: 115,237,237 (GRCm39) |
V567A |
probably damaging |
Het |
Oxsr1 |
A |
T |
9: 119,089,167 (GRCm39) |
|
probably benign |
Het |
Pak2 |
A |
T |
16: 31,860,362 (GRCm39) |
V167E |
probably benign |
Het |
Pcdhb16 |
A |
G |
18: 37,612,498 (GRCm39) |
H486R |
probably benign |
Het |
Plekha5 |
C |
T |
6: 140,516,042 (GRCm39) |
|
probably benign |
Het |
Rbm6 |
T |
C |
9: 107,665,548 (GRCm39) |
D616G |
probably damaging |
Het |
Sf3b1 |
T |
C |
1: 55,027,108 (GRCm39) |
Y1249C |
probably damaging |
Het |
Sipa1l3 |
T |
C |
7: 29,030,797 (GRCm39) |
H534R |
possibly damaging |
Het |
Slco1c1 |
T |
C |
6: 141,485,777 (GRCm39) |
Y136H |
probably damaging |
Het |
Smarca4 |
A |
G |
9: 21,590,369 (GRCm39) |
M1333V |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,195,443 (GRCm39) |
V250E |
possibly damaging |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Suv39h2 |
T |
A |
2: 3,465,296 (GRCm39) |
|
probably benign |
Het |
Taar8b |
T |
A |
10: 23,968,005 (GRCm39) |
H63L |
probably damaging |
Het |
Tex2 |
G |
A |
11: 106,435,141 (GRCm39) |
Q264* |
probably null |
Het |
Thnsl2 |
A |
C |
6: 71,115,740 (GRCm39) |
S156A |
probably benign |
Het |
Tmtc4 |
G |
T |
14: 123,163,366 (GRCm39) |
|
probably benign |
Het |
Usp25 |
T |
C |
16: 76,890,566 (GRCm39) |
L758P |
probably benign |
Het |
Zfyve1 |
G |
A |
12: 83,599,281 (GRCm39) |
R144C |
probably damaging |
Het |
Zpld1 |
A |
G |
16: 55,072,133 (GRCm39) |
V42A |
probably damaging |
Het |
|
Other mutations in Smc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Smc4
|
APN |
3 |
68,937,712 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL00542:Smc4
|
APN |
3 |
68,935,771 (GRCm39) |
splice site |
probably benign |
|
IGL01104:Smc4
|
APN |
3 |
68,934,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01397:Smc4
|
APN |
3 |
68,938,877 (GRCm39) |
missense |
probably benign |
|
IGL02441:Smc4
|
APN |
3 |
68,913,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02629:Smc4
|
APN |
3 |
68,933,206 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03220:Smc4
|
APN |
3 |
68,916,875 (GRCm39) |
missense |
possibly damaging |
0.67 |
pyrrhic
|
UTSW |
3 |
68,934,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Smc4
|
UTSW |
3 |
68,915,361 (GRCm39) |
nonsense |
probably null |
|
R0523:Smc4
|
UTSW |
3 |
68,933,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Smc4
|
UTSW |
3 |
68,929,794 (GRCm39) |
critical splice donor site |
probably null |
|
R0571:Smc4
|
UTSW |
3 |
68,931,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Smc4
|
UTSW |
3 |
68,916,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R0925:Smc4
|
UTSW |
3 |
68,913,548 (GRCm39) |
critical splice donor site |
probably benign |
|
R0963:Smc4
|
UTSW |
3 |
68,933,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Smc4
|
UTSW |
3 |
68,924,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1755:Smc4
|
UTSW |
3 |
68,941,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Smc4
|
UTSW |
3 |
68,940,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R4226:Smc4
|
UTSW |
3 |
68,938,800 (GRCm39) |
missense |
probably benign |
0.01 |
R4510:Smc4
|
UTSW |
3 |
68,923,980 (GRCm39) |
splice site |
probably null |
|
R4511:Smc4
|
UTSW |
3 |
68,923,980 (GRCm39) |
splice site |
probably null |
|
R4899:Smc4
|
UTSW |
3 |
68,939,144 (GRCm39) |
missense |
probably damaging |
0.97 |
R4967:Smc4
|
UTSW |
3 |
68,925,572 (GRCm39) |
intron |
probably benign |
|
R5096:Smc4
|
UTSW |
3 |
68,928,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R5101:Smc4
|
UTSW |
3 |
68,935,845 (GRCm39) |
missense |
probably benign |
0.00 |
R5588:Smc4
|
UTSW |
3 |
68,933,190 (GRCm39) |
missense |
probably benign |
|
R5631:Smc4
|
UTSW |
3 |
68,937,645 (GRCm39) |
missense |
probably benign |
0.16 |
R5633:Smc4
|
UTSW |
3 |
68,915,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R6229:Smc4
|
UTSW |
3 |
68,937,580 (GRCm39) |
nonsense |
probably null |
|
R6300:Smc4
|
UTSW |
3 |
68,935,224 (GRCm39) |
missense |
probably benign |
0.00 |
R6554:Smc4
|
UTSW |
3 |
68,936,848 (GRCm39) |
missense |
probably benign |
0.00 |
R6596:Smc4
|
UTSW |
3 |
68,933,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Smc4
|
UTSW |
3 |
68,929,794 (GRCm39) |
critical splice donor site |
probably null |
|
R6682:Smc4
|
UTSW |
3 |
68,914,574 (GRCm39) |
missense |
probably damaging |
0.98 |
R6727:Smc4
|
UTSW |
3 |
68,924,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R6955:Smc4
|
UTSW |
3 |
68,931,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7037:Smc4
|
UTSW |
3 |
68,925,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7051:Smc4
|
UTSW |
3 |
68,934,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Smc4
|
UTSW |
3 |
68,925,457 (GRCm39) |
missense |
probably benign |
|
R7630:Smc4
|
UTSW |
3 |
68,925,400 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7632:Smc4
|
UTSW |
3 |
68,925,400 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7633:Smc4
|
UTSW |
3 |
68,925,400 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R7773:Smc4
|
UTSW |
3 |
68,923,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R7857:Smc4
|
UTSW |
3 |
68,940,552 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8008:Smc4
|
UTSW |
3 |
68,914,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R8398:Smc4
|
UTSW |
3 |
68,933,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R8527:Smc4
|
UTSW |
3 |
68,940,224 (GRCm39) |
critical splice donor site |
probably null |
|
R8936:Smc4
|
UTSW |
3 |
68,925,491 (GRCm39) |
missense |
probably benign |
0.21 |
R8998:Smc4
|
UTSW |
3 |
68,934,894 (GRCm39) |
utr 3 prime |
probably benign |
|
R9267:Smc4
|
UTSW |
3 |
68,941,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R9440:Smc4
|
UTSW |
3 |
68,915,455 (GRCm39) |
critical splice donor site |
probably null |
|
R9476:Smc4
|
UTSW |
3 |
68,914,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R9510:Smc4
|
UTSW |
3 |
68,914,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R9777:Smc4
|
UTSW |
3 |
68,929,655 (GRCm39) |
nonsense |
probably null |
|
X0063:Smc4
|
UTSW |
3 |
68,925,436 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2013-11-05 |