Incidental Mutation 'R9440:Smc4'
| ID |
713570 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc4
|
| Ensembl Gene |
ENSMUSG00000034349 |
| Gene Name |
structural maintenance of chromosomes 4 |
| Synonyms |
Smc4l1, 2500002A22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R9440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 68915455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000107812]
[ENSMUST00000136502]
[ENSMUST00000148031]
[ENSMUST00000148385]
[ENSMUST00000154741]
[ENSMUST00000169064]
[ENSMUST00000195525]
|
| AlphaFold |
Q8CG47 |
| PDB Structure |
Crystal Structure of the Mouse Condensin Hinge Domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
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: ENSMUST00000107812
|
| SMART Domains |
Protein: ENSMUSP00000103442
Gene: ENSMUSG00000027778
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| 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: ENSMUST00000148031
|
| SMART Domains |
Protein: ENSMUSP00000122919
Gene: ENSMUSG00000027778
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
3e-10 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
Blast:WD40
|
136 |
159 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148385
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154741
|
| SMART Domains |
Protein: ENSMUSP00000118406
Gene: ENSMUSG00000027778
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
9e-10 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
209 |
2.12e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169064
|
| SMART Domains |
Protein: ENSMUSP00000133263
Gene: ENSMUSG00000027778
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
41 |
1.43e0 |
SMART |
|
Blast:WD40
|
46 |
93 |
4e-9 |
BLAST |
|
WD40
|
95 |
134 |
9.38e-5 |
SMART |
|
WD40
|
136 |
176 |
2.75e1 |
SMART |
|
WD40
|
177 |
216 |
1.42e-4 |
SMART |
|
WD40
|
219 |
256 |
1.56e-1 |
SMART |
|
WD40
|
258 |
297 |
2.75e1 |
SMART |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
Blast:WD40
|
496 |
533 |
4e-18 |
BLAST |
|
low complexity region
|
764 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,499,452 (GRCm39) |
T1359M |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,384,085 (GRCm39) |
C2205S |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,841,591 (GRCm39) |
E70G |
probably benign |
Het |
| Aldh1a3 |
C |
A |
7: 66,068,992 (GRCm39) |
|
probably null |
Het |
| Asb4 |
A |
G |
6: 5,429,817 (GRCm39) |
I352M |
probably benign |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,101,961 (GRCm39) |
L101P |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,382,217 (GRCm39) |
D440E |
probably benign |
Het |
| Bpifb6 |
A |
T |
2: 153,747,914 (GRCm39) |
D191V |
probably benign |
Het |
| Cfap298 |
A |
T |
16: 90,726,832 (GRCm39) |
V116E |
probably benign |
Het |
| Cfd |
T |
C |
10: 79,726,816 (GRCm39) |
|
probably null |
Het |
| Cnot3 |
G |
A |
7: 3,656,560 (GRCm39) |
E252K |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,068 (GRCm39) |
D2622G |
unknown |
Het |
| Crybg2 |
T |
C |
4: 133,801,602 (GRCm39) |
S612P |
probably benign |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,581 (GRCm39) |
K167R |
probably damaging |
Het |
| Gbp3 |
T |
C |
3: 142,272,335 (GRCm39) |
V279A |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,833,706 (GRCm39) |
T192A |
possibly damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,911 (GRCm39) |
V20A |
|
Het |
| Gorasp2 |
T |
C |
2: 70,541,469 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
A |
G |
11: 97,229,315 (GRCm39) |
S947P |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,455,600 (GRCm39) |
V876A |
probably benign |
Het |
| Marf1 |
A |
C |
16: 13,938,196 (GRCm39) |
D1433E |
probably benign |
Het |
| Mcm4 |
A |
T |
16: 15,453,175 (GRCm39) |
C171* |
probably null |
Het |
| Micall1 |
C |
T |
15: 79,011,159 (GRCm39) |
P510S |
|
Het |
| Morc3 |
A |
G |
16: 93,649,975 (GRCm39) |
|
probably null |
Het |
| Mrpl28 |
G |
T |
17: 26,345,266 (GRCm39) |
V229F |
possibly damaging |
Het |
| Mrps33 |
A |
T |
6: 39,782,364 (GRCm39) |
Y52* |
probably null |
Het |
| Mybphl |
T |
C |
3: 108,282,202 (GRCm39) |
I144T |
probably benign |
Het |
| Myom1 |
A |
G |
17: 71,433,329 (GRCm39) |
M1657V |
probably benign |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or5p67 |
A |
G |
7: 107,922,037 (GRCm39) |
I282T |
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,318,912 (GRCm39) |
K637R |
probably benign |
Het |
| Prob1 |
G |
T |
18: 35,786,218 (GRCm39) |
L679I |
possibly damaging |
Het |
| Sgms2 |
C |
A |
3: 131,118,718 (GRCm39) |
C255F |
probably damaging |
Het |
| Slc17a9 |
T |
C |
2: 180,383,090 (GRCm39) |
C399R |
probably benign |
Het |
| St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,906 (GRCm39) |
L102* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,072,273 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,886,932 (GRCm39) |
|
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,760,234 (GRCm39) |
|
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,709 (GRCm39) |
I358V |
probably benign |
Het |
| Uroc1 |
C |
A |
6: 90,322,353 (GRCm39) |
S292R |
possibly damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,962,415 (GRCm39) |
I30T |
possibly damaging |
Het |
| Vps33a |
A |
T |
5: 123,703,047 (GRCm39) |
I192N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,516,724 (GRCm39) |
I69V |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,245,064 (GRCm39) |
S1176P |
|
Het |
| Xirp1 |
G |
A |
9: 119,847,203 (GRCm39) |
T560M |
probably damaging |
Het |
| Zfp512 |
A |
T |
5: 31,628,359 (GRCm39) |
T266S |
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 |
|
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 |
|
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'- CTGTATTATTGGACCAAATGGCAG -3'
(R):5'- GCCCATATTTATAGTGAGTGAATGCTG -3'
Sequencing Primer
(F):5'- CCAAATGGCAGTGGAAAATCC -3'
(R):5'- TGAATTAGCACTTAGGGCCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation