Incidental Mutation 'R8998:Smc4'
| ID |
706153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc4
|
| Ensembl Gene |
ENSMUSG00000034349 |
| Gene Name |
structural maintenance of chromosomes 4 |
| Synonyms |
Smc4l1, 2500002A22Rik |
| MMRRC Submission |
068829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R8998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to C
at 68934894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000148385]
[ENSMUST00000195525]
|
| AlphaFold |
Q8CG47 |
| Predicted Effect |
silent
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 |
silent
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: ENSMUST00000148385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
|
| Meta Mutation Damage Score |
0.0985 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,033,051 (GRCm39) |
K575R |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,726 (GRCm39) |
*1475R |
probably null |
Het |
| Baz2b |
T |
C |
2: 59,799,608 (GRCm39) |
D237G |
probably benign |
Het |
| Cacna2d4 |
A |
C |
6: 119,219,876 (GRCm39) |
Q215H |
possibly damaging |
Het |
| Capn15 |
G |
A |
17: 26,182,055 (GRCm39) |
R651C |
probably damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,654 (GRCm39) |
E357G |
probably damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,471 (GRCm39) |
V29A |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,938,157 (GRCm39) |
T170A |
possibly damaging |
Het |
| D330020A13Rik |
A |
G |
6: 120,271,890 (GRCm39) |
T189A |
unknown |
Het |
| Emsy |
C |
A |
7: 98,268,512 (GRCm39) |
V524F |
possibly damaging |
Het |
| Eppk1 |
T |
A |
15: 75,980,765 (GRCm39) |
N3315I |
probably damaging |
Het |
| Erich2 |
T |
G |
2: 70,361,964 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,365 (GRCm39) |
D529G |
probably damaging |
Het |
| Gbx2 |
C |
A |
1: 89,856,745 (GRCm39) |
G215V |
possibly damaging |
Het |
| Gzmd |
T |
A |
14: 56,368,144 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Hpse |
G |
A |
5: 100,840,109 (GRCm39) |
T336M |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,772,455 (GRCm39) |
D88G |
probably damaging |
Het |
| Kif20b |
G |
A |
19: 34,914,253 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,733,174 (GRCm39) |
M2381T |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,933 (GRCm39) |
C257S |
unknown |
Het |
| Met |
C |
T |
6: 17,491,534 (GRCm39) |
R99W |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,449,629 (GRCm39) |
R611G |
probably null |
Het |
| Or10a3b |
A |
C |
7: 108,445,017 (GRCm39) |
S67A |
probably benign |
Het |
| Or4b1d |
C |
T |
2: 89,969,472 (GRCm39) |
V4I |
probably benign |
Het |
| Or8b1c |
T |
C |
9: 38,384,787 (GRCm39) |
V248A |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,189 (GRCm39) |
Y277F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,510 (GRCm39) |
I2123V |
unknown |
Het |
| Phf10 |
G |
C |
17: 15,170,883 (GRCm39) |
A350G |
probably benign |
Het |
| Pira2 |
T |
C |
7: 3,845,490 (GRCm39) |
Y298C |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,434,425 (GRCm39) |
Y2338N |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,788,957 (GRCm39) |
L1120F |
possibly damaging |
Het |
| Safb2 |
A |
T |
17: 56,870,391 (GRCm39) |
H934Q |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,775,346 (GRCm38) |
L884Q |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,935,706 (GRCm39) |
V311A |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,176 (GRCm39) |
V17A |
unknown |
Het |
| Tenm3 |
T |
C |
8: 48,729,722 (GRCm39) |
Y1428C |
probably damaging |
Het |
| Tent4b |
A |
G |
8: 88,977,350 (GRCm39) |
H384R |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,609,775 (GRCm39) |
D69G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,658,277 (GRCm39) |
K12368E |
unknown |
Het |
| Usp17le |
T |
C |
7: 104,417,969 (GRCm39) |
D391G |
probably benign |
Het |
| Usp28 |
G |
A |
9: 48,949,139 (GRCm39) |
R911Q |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 101,993,058 (GRCm39) |
S3274R |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,997,371 (GRCm39) |
V976A |
probably benign |
Het |
| Zfp334 |
A |
G |
2: 165,223,408 (GRCm39) |
S212P |
possibly 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 |
|
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 |
|
|
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 |
|
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'- GATGTCCAATGCATTTCGAGG -3'
(R):5'- CCTGGGAACATATGACAAGTCAG -3'
Sequencing Primer
(F):5'- ATCTCTGAATTGGAGCCGAC -3'
(R):5'- GTCAGTTTTGTATGCTTTACCCAAG -3'
|
| Posted On |
2022-04-01 |
Incidental Mutation