Incidental Mutation 'R6229:Smc4'
| ID |
504538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc4
|
| Ensembl Gene |
ENSMUSG00000034349 |
| Gene Name |
structural maintenance of chromosomes 4 |
| Synonyms |
Smc4l1, 2500002A22Rik |
| MMRRC Submission |
044358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R6229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 68937580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 843
(Y843*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042901]
[ENSMUST00000107803]
[ENSMUST00000148385]
[ENSMUST00000195525]
|
| AlphaFold |
Q8CG47 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042901
AA Change: Y868*
|
| SMART Domains |
Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: Y868*
| 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 null
Transcript: ENSMUST00000107803
AA Change: Y843*
|
| SMART Domains |
Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: Y843*
| 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 benign
Transcript: ENSMUST00000149174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195525
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
99% (69/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
A |
1: 120,099,213 (GRCm39) |
|
probably null |
Het |
| Adamts6 |
G |
A |
13: 104,483,900 (GRCm39) |
|
probably null |
Het |
| Add3 |
C |
A |
19: 53,223,277 (GRCm39) |
A343D |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,572,528 (GRCm39) |
D398G |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,222,937 (GRCm39) |
A225T |
probably damaging |
Het |
| Apbb1 |
C |
A |
7: 105,222,938 (GRCm39) |
W224C |
probably damaging |
Het |
| Arhgef40 |
A |
T |
14: 52,227,547 (GRCm39) |
Q431L |
probably benign |
Het |
| Calm4 |
A |
G |
13: 3,888,038 (GRCm39) |
D48G |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,319,484 (GRCm39) |
I502L |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,220,683 (GRCm39) |
S185P |
probably damaging |
Het |
| Chd2 |
C |
A |
7: 73,101,471 (GRCm39) |
K1418N |
possibly damaging |
Het |
| Cmya5 |
A |
C |
13: 93,229,814 (GRCm39) |
V1758G |
probably benign |
Het |
| Cpsf4l |
T |
C |
11: 113,599,680 (GRCm39) |
K35R |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,727,622 (GRCm39) |
V119E |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnah3 |
G |
T |
7: 119,564,711 (GRCm39) |
Q2651K |
probably benign |
Het |
| Eif4g2 |
T |
C |
7: 110,676,920 (GRCm39) |
|
probably null |
Het |
| Enc1 |
A |
G |
13: 97,381,999 (GRCm39) |
R170G |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,741,228 (GRCm39) |
R357G |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,375,734 (GRCm39) |
K58E |
possibly damaging |
Het |
| Fis1 |
A |
G |
5: 136,994,528 (GRCm39) |
|
probably null |
Het |
| Fmo9 |
A |
C |
1: 166,505,126 (GRCm39) |
M89R |
possibly damaging |
Het |
| Gm6096 |
A |
C |
7: 33,950,676 (GRCm39) |
I72L |
possibly damaging |
Het |
| Golga5 |
G |
A |
12: 102,450,740 (GRCm39) |
M464I |
probably benign |
Het |
| Got1l1 |
T |
C |
8: 27,688,464 (GRCm39) |
|
probably null |
Het |
| Ift56 |
T |
A |
6: 38,371,975 (GRCm39) |
N188K |
probably benign |
Het |
| Igfbpl1 |
A |
G |
4: 45,813,517 (GRCm39) |
Y233H |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,513,923 (GRCm39) |
I43T |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,252,891 (GRCm39) |
N64D |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,875,441 (GRCm39) |
S44P |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 64,976,016 (GRCm39) |
G444W |
probably damaging |
Het |
| Lmo1 |
A |
G |
7: 108,742,832 (GRCm39) |
C13R |
probably damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,404,160 (GRCm39) |
M761K |
possibly damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,913,887 (GRCm39) |
I719T |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,974,015 (GRCm39) |
V1423E |
probably damaging |
Het |
| Mbnl1 |
T |
A |
3: 60,528,749 (GRCm39) |
|
probably null |
Het |
| Mrps28 |
T |
C |
3: 8,965,097 (GRCm39) |
D114G |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,792 (GRCm39) |
M1412L |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,330,280 (GRCm39) |
K96E |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,197,162 (GRCm39) |
V462A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,287,524 (GRCm39) |
S923P |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
| Nfatc2ip |
C |
T |
7: 125,995,113 (GRCm39) |
|
probably null |
Het |
| Or11g24 |
A |
G |
14: 50,662,662 (GRCm39) |
R229G |
probably benign |
Het |
| Or12e10 |
G |
T |
2: 87,640,431 (GRCm39) |
C89F |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,819 (GRCm39) |
I107V |
probably benign |
Het |
| Or7g33 |
T |
A |
9: 19,449,014 (GRCm39) |
I71F |
possibly damaging |
Het |
| Plin2 |
A |
G |
4: 86,586,903 (GRCm39) |
V5A |
probably benign |
Het |
| Pramel31 |
T |
C |
4: 144,090,199 (GRCm39) |
M413T |
probably benign |
Het |
| Ptprm |
T |
A |
17: 66,995,295 (GRCm39) |
D1311V |
probably damaging |
Het |
| Recql5 |
A |
T |
11: 115,821,540 (GRCm39) |
I72N |
probably damaging |
Het |
| Sall2 |
A |
T |
14: 52,550,648 (GRCm39) |
M847K |
probably benign |
Het |
| Slc23a1 |
T |
C |
18: 35,752,577 (GRCm39) |
R567G |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,774,753 (GRCm39) |
R200H |
probably benign |
Het |
| Syne2 |
C |
A |
12: 75,967,994 (GRCm39) |
Q915K |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,985 (GRCm39) |
I275F |
probably damaging |
Het |
| Tcf20 |
T |
C |
15: 82,739,081 (GRCm39) |
H790R |
probably damaging |
Het |
| Tm7sf3 |
A |
G |
6: 146,514,887 (GRCm39) |
F310S |
possibly damaging |
Het |
| Tmem9b |
T |
A |
7: 109,344,627 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
A |
G |
18: 50,184,742 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,838 (GRCm38) |
L835R |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 21,003,802 (GRCm39) |
S209T |
probably benign |
Het |
| Uap1 |
C |
T |
1: 169,994,302 (GRCm39) |
R58Q |
probably benign |
Het |
| Upk3bl |
A |
G |
5: 136,092,915 (GRCm39) |
|
probably null |
Het |
| Usp34 |
A |
G |
11: 23,396,778 (GRCm39) |
H596R |
probably damaging |
Het |
| Vmn1r181 |
C |
T |
7: 23,683,580 (GRCm39) |
A15V |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,883 (GRCm39) |
K350N |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,178 (GRCm39) |
H176R |
probably benign |
Het |
| Vwa7 |
A |
G |
17: 35,243,241 (GRCm39) |
R640G |
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 |
|
|
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 |
|
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'- GGGAGAGACTGTAACCATCAC -3'
(R):5'- CCTGTCAGCAGTCTTGATTGC -3'
Sequencing Primer
(F):5'- TGTATCAACAGCTTAACCAGGG -3'
(R):5'- CTACTTGGGCCTTAGTAATAGCAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation