Incidental Mutation 'R7633:Smc4'
| ID |
589745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc4
|
| Ensembl Gene |
ENSMUSG00000034349 |
| Gene Name |
structural maintenance of chromosomes 4 |
| Synonyms |
2500002A22Rik, Smc4l1 |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
69004738-69034623 bp(+) (GRCm38) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
CTA to CTATA
at 69018067 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000136502]
[ENSMUST00000148385]
[ENSMUST00000195525]
|
| AlphaFold |
Q8CG47 |
| PDB Structure |
Crystal Structure of the Mouse Condensin Hinge Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042901
|
| SMART Domains |
Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
| 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 |
probably benign
Transcript: ENSMUST00000107803
|
| SMART Domains |
Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
| 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 |
probably benign
Transcript: ENSMUST00000136502
|
| SMART Domains |
Protein: ENSMUSP00000115033
Gene: ENSMUSG00000034349
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMC_N
|
81 |
303 |
1.2e-42 |
PFAM |
|
Pfam:AAA_23
|
84 |
336 |
2.6e-16 |
PFAM |
|
Pfam:AAA_21
|
106 |
227 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530084C06Rik |
G |
T |
13: 31,558,995 (GRCm38) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,372,639 (GRCm38) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,948,584 (GRCm38) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,947,118 (GRCm38) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,729,399 (GRCm38) |
|
probably null |
Het |
| Calhm4 |
G |
A |
10: 34,043,908 (GRCm38) |
T121M |
possibly damaging |
Het |
| Cd46 |
A |
T |
1: 195,083,619 (GRCm38) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,560,745 (GRCm38) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,792,873 (GRCm38) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,782,112 (GRCm38) |
T392M |
probably benign |
Het |
| Cracd |
A |
G |
5: 76,857,520 (GRCm38) |
E576G |
unknown |
Het |
| Dcxr |
A |
C |
11: 120,726,453 (GRCm38) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,338,910 (GRCm38) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,279,698 (GRCm38) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,815,780 (GRCm38) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 59,981,534 (GRCm38) |
D521G |
probably damaging |
Het |
| Gm6882 |
A |
G |
7: 21,427,652 (GRCm38) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,474,302 (GRCm38) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,346,662 (GRCm38) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,341,399 (GRCm38) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,671,741 (GRCm38) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,654,253 (GRCm38) |
G232S |
probably damaging |
Het |
| Lypd9 |
C |
A |
11: 58,447,478 (GRCm38) |
M29I |
probably benign |
Het |
| Mov10 |
A |
G |
3: 104,797,065 (GRCm38) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,583 (GRCm38) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,158,622 (GRCm38) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,109,453 (GRCm38) |
S3W |
probably damaging |
Het |
| Or4k41 |
A |
G |
2: 111,449,622 (GRCm38) |
I161V |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,340,086 (GRCm38) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,956,151 (GRCm38) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,552,436 (GRCm38) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,980,654 (GRCm38) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,456,629 (GRCm38) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,248,477 (GRCm38) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,984,140 (GRCm38) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 91,118,042 (GRCm38) |
|
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,486,680 (GRCm38) |
R7S |
probably null |
Het |
| Slco1a6 |
A |
T |
6: 142,145,755 (GRCm38) |
I73N |
probably damaging |
Het |
| Sltm |
C |
G |
9: 70,586,673 (GRCm38) |
P802R |
possibly damaging |
Het |
| Spock2 |
G |
A |
10: 60,126,180 (GRCm38) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,367,838 (GRCm38) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,197,099 (GRCm38) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,603,428 (GRCm38) |
T482I |
probably damaging |
Het |
| Tcstv7b |
G |
A |
13: 120,240,840 (GRCm38) |
W57* |
probably null |
Het |
| Tmc6 |
G |
T |
11: 117,769,220 (GRCm38) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 69,037,926 (GRCm38) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,591,006 (GRCm38) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,393,485 (GRCm38) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,861,147 (GRCm38) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,658,962 (GRCm38) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,843,023 (GRCm38) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,425,089 (GRCm38) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,318,996 (GRCm38) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,115,824 (GRCm38) |
F240L |
possibly damaging |
Het |
|
| Other mutations in Smc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Smc4
|
APN |
3 |
69,030,379 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL00542:Smc4
|
APN |
3 |
69,028,438 (GRCm38) |
splice site |
probably benign |
|
|
IGL01104:Smc4
|
APN |
3 |
69,027,584 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01380:Smc4
|
APN |
3 |
69,025,828 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01397:Smc4
|
APN |
3 |
69,031,544 (GRCm38) |
missense |
probably benign |
|
|
IGL02441:Smc4
|
APN |
3 |
69,006,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02629:Smc4
|
APN |
3 |
69,025,873 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03220:Smc4
|
APN |
3 |
69,009,542 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
pyrrhic
|
UTSW |
3 |
69,027,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0452:Smc4
|
UTSW |
3 |
69,008,028 (GRCm38) |
nonsense |
probably null |
|
|
R0523:Smc4
|
UTSW |
3 |
69,025,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0568:Smc4
|
UTSW |
3 |
69,022,461 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0571:Smc4
|
UTSW |
3 |
69,024,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0602:Smc4
|
UTSW |
3 |
69,009,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0925:Smc4
|
UTSW |
3 |
69,006,215 (GRCm38) |
critical splice donor site |
probably benign |
|
|
R0963:Smc4
|
UTSW |
3 |
69,025,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1540:Smc4
|
UTSW |
3 |
69,016,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1755:Smc4
|
UTSW |
3 |
69,034,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1920:Smc4
|
UTSW |
3 |
69,033,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4226:Smc4
|
UTSW |
3 |
69,031,467 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4510:Smc4
|
UTSW |
3 |
69,016,647 (GRCm38) |
splice site |
probably null |
|
|
R4511:Smc4
|
UTSW |
3 |
69,016,647 (GRCm38) |
splice site |
probably null |
|
|
R4899:Smc4
|
UTSW |
3 |
69,031,811 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4967:Smc4
|
UTSW |
3 |
69,018,239 (GRCm38) |
intron |
probably benign |
|
|
R5096:Smc4
|
UTSW |
3 |
69,021,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5101:Smc4
|
UTSW |
3 |
69,028,512 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5588:Smc4
|
UTSW |
3 |
69,025,857 (GRCm38) |
missense |
probably benign |
|
|
R5631:Smc4
|
UTSW |
3 |
69,030,312 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5633:Smc4
|
UTSW |
3 |
69,008,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6229:Smc4
|
UTSW |
3 |
69,030,247 (GRCm38) |
nonsense |
probably null |
|
|
R6300:Smc4
|
UTSW |
3 |
69,027,891 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6554:Smc4
|
UTSW |
3 |
69,029,515 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6596:Smc4
|
UTSW |
3 |
69,025,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6603:Smc4
|
UTSW |
3 |
69,022,461 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6682:Smc4
|
UTSW |
3 |
69,007,241 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6727:Smc4
|
UTSW |
3 |
69,016,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6955:Smc4
|
UTSW |
3 |
69,024,309 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7037:Smc4
|
UTSW |
3 |
69,018,195 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7051:Smc4
|
UTSW |
3 |
69,027,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7454:Smc4
|
UTSW |
3 |
69,018,124 (GRCm38) |
missense |
probably benign |
|
|
R7630:Smc4
|
UTSW |
3 |
69,018,067 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R7632:Smc4
|
UTSW |
3 |
69,018,067 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R7773:Smc4
|
UTSW |
3 |
69,016,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7857:Smc4
|
UTSW |
3 |
69,033,219 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R8008:Smc4
|
UTSW |
3 |
69,007,312 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8398:Smc4
|
UTSW |
3 |
69,025,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8527:Smc4
|
UTSW |
3 |
69,032,891 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8936:Smc4
|
UTSW |
3 |
69,018,158 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8998:Smc4
|
UTSW |
3 |
69,027,561 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R9267:Smc4
|
UTSW |
3 |
69,034,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9440:Smc4
|
UTSW |
3 |
69,008,122 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9476:Smc4
|
UTSW |
3 |
69,007,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9510:Smc4
|
UTSW |
3 |
69,007,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9777:Smc4
|
UTSW |
3 |
69,022,322 (GRCm38) |
nonsense |
probably null |
|
|
X0063:Smc4
|
UTSW |
3 |
69,018,103 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGGACCATAAGTAACTGAAATC -3'
(R):5'- TAGTGCAGAGTGGTGGTACC -3'
Sequencing Primer
(F):5'- AAAACATGAGACACTGCTATACAC -3'
(R):5'- GGTGGTACCTAAAAGAACTGATTTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation