Incidental Mutation 'R0963:Smc4'
| ID |
81351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc4
|
| Ensembl Gene |
ENSMUSG00000034349 |
| Gene Name |
structural maintenance of chromosomes 4 |
| Synonyms |
Smc4l1, 2500002A22Rik |
| MMRRC Submission |
039092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R0963 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 68933259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 652
(C652S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000148385]
[ENSMUST00000195525]
|
| AlphaFold |
Q8CG47 |
| PDB Structure |
Crystal Structure of the Mouse Condensin Hinge Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042901
AA Change: C652S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: C652S
| 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 damaging
Transcript: ENSMUST00000107803
AA Change: C627S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: C627S
| 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 |
unknown
Transcript: ENSMUST00000149174
AA Change: C87S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194693
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
G |
13: 8,722,451 (GRCm39) |
D369G |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,038,893 (GRCm39) |
V303A |
probably damaging |
Het |
| Afap1l1 |
A |
T |
18: 61,870,001 (GRCm39) |
Y610N |
probably damaging |
Het |
| Agr3 |
T |
A |
12: 35,984,433 (GRCm39) |
H53Q |
probably benign |
Het |
| Akr1d1 |
A |
G |
6: 37,507,209 (GRCm39) |
I10M |
probably damaging |
Het |
| Atp4b |
G |
T |
8: 13,440,014 (GRCm39) |
H111N |
probably benign |
Het |
| Bbs7 |
G |
T |
3: 36,667,412 (GRCm39) |
A8E |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,989,006 (GRCm39) |
V2249M |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,431,634 (GRCm39) |
S685P |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,956 (GRCm39) |
H163Q |
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,117,653 (GRCm39) |
C894G |
probably benign |
Het |
| Ecm1 |
T |
C |
3: 95,643,900 (GRCm39) |
T209A |
possibly damaging |
Het |
| Glo1 |
T |
C |
17: 30,819,085 (GRCm39) |
N79S |
probably benign |
Het |
| Htra1 |
T |
A |
7: 130,584,009 (GRCm39) |
M388K |
possibly damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Jag2 |
C |
T |
12: 112,878,934 (GRCm39) |
E496K |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Khdc1c |
A |
G |
1: 21,439,833 (GRCm39) |
N128S |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,119,132 (GRCm39) |
N829S |
probably benign |
Het |
| Leprotl1 |
T |
C |
8: 34,606,189 (GRCm39) |
Y33C |
probably damaging |
Het |
| Lypd11 |
A |
T |
7: 24,423,047 (GRCm39) |
D90E |
probably benign |
Het |
| Map3k3 |
T |
A |
11: 106,014,618 (GRCm39) |
S130T |
probably benign |
Het |
| Mip |
C |
T |
10: 128,061,854 (GRCm39) |
A35V |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,118,921 (GRCm39) |
T63A |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,512 (GRCm39) |
R861G |
probably damaging |
Het |
| Myom1 |
A |
C |
17: 71,384,762 (GRCm39) |
I718L |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,452,983 (GRCm39) |
R26H |
probably benign |
Het |
| Or52e4 |
G |
A |
7: 104,706,179 (GRCm39) |
C242Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,578,534 (GRCm39) |
E824G |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,678 (GRCm39) |
I262N |
possibly damaging |
Het |
| Rbm19 |
T |
G |
5: 120,268,799 (GRCm39) |
S476A |
possibly damaging |
Het |
| Rpl39l |
T |
A |
16: 9,992,162 (GRCm39) |
|
probably null |
Het |
| Sec24b |
A |
G |
3: 129,834,554 (GRCm39) |
S79P |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,594,935 (GRCm39) |
A146V |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,189,675 (GRCm39) |
Y161C |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,869,231 (GRCm39) |
I1499T |
probably damaging |
Het |
| Tnnt1 |
A |
G |
7: 4,510,594 (GRCm39) |
L209P |
probably damaging |
Het |
| Trim52 |
T |
G |
14: 106,344,973 (GRCm39) |
S210R |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,039 (GRCm39) |
N82K |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,856,470 (GRCm39) |
Y498H |
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,462,726 (GRCm39) |
S56N |
probably benign |
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 |
|
IGL01380:Smc4
|
APN |
3 |
68,933,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGTAGGGAAGAATGGTCAAATCTGAAT -3'
(R):5'- CTGGACAACACCATAACAACTGGAAGT -3'
Sequencing Primer
(F):5'- GGGAGACTTAGGAGCTATTGATGA -3'
(R):5'- TAGTCAAGGCATTACAAACTTTACCC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation