Incidental Mutation 'R9510:Smc4'
| ID |
718073 |
| 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 # |
R9510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
68912071-68941956 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 68914662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 92
(S92A)
|
| 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 damaging
Transcript: ENSMUST00000042901
AA Change: S92A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047872
Gene: ENSMUSG00000034349
AA Change: S92A
| 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: S67A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103433
Gene: ENSMUSG00000034349
AA Change: S67A
| 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 damaging
Transcript: ENSMUST00000136502
AA Change: S92A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115033
Gene: ENSMUSG00000034349
AA Change: S92A
| 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: 99.6%
- 20x: 98.6%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578G10Rik |
T |
G |
4: 42,760,998 (GRCm39) |
W6G |
unknown |
Het |
| Aatk |
A |
T |
11: 119,901,094 (GRCm39) |
C1101S |
probably benign |
Het |
| Ankrd61 |
T |
C |
5: 143,828,322 (GRCm39) |
T218A |
possibly damaging |
Het |
| Cacna1b |
T |
C |
2: 24,540,058 (GRCm39) |
E1467G |
probably damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,802,016 (GRCm39) |
T34A |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cdk13 |
A |
C |
13: 17,902,747 (GRCm39) |
C934W |
probably damaging |
Het |
| Cebpg |
T |
C |
7: 34,750,080 (GRCm39) |
N61S |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,843 (GRCm39) |
E114V |
probably benign |
Het |
| Clec9a |
T |
A |
6: 129,398,023 (GRCm39) |
I187K |
possibly damaging |
Het |
| Cr2 |
G |
T |
1: 194,840,416 (GRCm39) |
L509M |
probably damaging |
Het |
| Creb3l2 |
C |
A |
6: 37,311,446 (GRCm39) |
G448W |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,229,760 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
C |
T |
11: 118,076,206 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,910,203 (GRCm39) |
D1441V |
unknown |
Het |
| Dnhd1 |
A |
T |
7: 105,352,889 (GRCm39) |
N2681Y |
possibly damaging |
Het |
| Dnm1 |
T |
C |
2: 32,213,739 (GRCm39) |
M476V |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,592,279 (GRCm39) |
I938S |
probably benign |
Het |
| Duox1 |
G |
A |
2: 122,160,023 (GRCm39) |
V713I |
possibly damaging |
Het |
| Dusp16 |
T |
C |
6: 134,695,226 (GRCm39) |
H535R |
probably benign |
Het |
| Eif3j2 |
TGCCGCCGCCGCCGCCGCCGCCGCCGCC |
TGCCGCCGCCGCCGCCGCCGCCGCC |
18: 43,610,782 (GRCm39) |
|
probably benign |
Het |
| Fancd2os |
T |
A |
6: 113,574,994 (GRCm39) |
Y4F |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,886 (GRCm39) |
Q3846L |
probably benign |
Het |
| Fbxw10 |
A |
C |
11: 62,743,814 (GRCm39) |
H240P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,442,662 (GRCm39) |
L727P |
probably damaging |
Het |
| Fezf1 |
A |
C |
6: 23,247,845 (GRCm39) |
F77V |
probably benign |
Het |
| Fli1 |
T |
C |
9: 32,335,493 (GRCm39) |
D313G |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,608,324 (GRCm39) |
T731A |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,828,090 (GRCm39) |
Q2R |
possibly damaging |
Het |
| Ggt5 |
T |
C |
10: 75,445,139 (GRCm39) |
V382A |
probably benign |
Het |
| Hira |
A |
G |
16: 18,772,789 (GRCm39) |
D867G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,462,127 (GRCm39) |
S5184P |
probably benign |
Het |
| Ighv1-26 |
A |
C |
12: 114,752,407 (GRCm39) |
F7V |
probably benign |
Het |
| Igkv4-81 |
C |
T |
6: 68,967,796 (GRCm39) |
E102K |
possibly damaging |
Het |
| Inmt |
G |
T |
6: 55,147,990 (GRCm39) |
S213Y |
possibly damaging |
Het |
| Ints2 |
T |
A |
11: 86,135,335 (GRCm39) |
M360L |
probably benign |
Het |
| Itih3 |
A |
G |
14: 30,631,416 (GRCm39) |
S827P |
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,054,122 (GRCm39) |
R180L |
probably benign |
Het |
| Klhl2 |
T |
C |
8: 65,202,113 (GRCm39) |
N521S |
probably benign |
Het |
| Kmt2a |
A |
T |
9: 44,734,531 (GRCm39) |
F2104I |
unknown |
Het |
| Kndc1 |
G |
A |
7: 139,510,031 (GRCm39) |
S1291N |
probably benign |
Het |
| Mettl21a |
T |
C |
1: 64,647,285 (GRCm39) |
T91A |
probably damaging |
Het |
| Mmrn2 |
A |
G |
14: 34,120,407 (GRCm39) |
I426V |
possibly damaging |
Het |
| Mrpl2 |
T |
C |
17: 46,958,440 (GRCm39) |
V74A |
probably benign |
Het |
| Msantd4 |
A |
G |
9: 4,385,007 (GRCm39) |
D244G |
probably benign |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,420,341 (GRCm39) |
*838W |
probably null |
Het |
| Ncor1 |
CTG |
CTGATG |
11: 62,324,442 (GRCm39) |
|
probably benign |
Het |
| Nsf |
T |
C |
11: 103,763,988 (GRCm39) |
N365S |
probably damaging |
Het |
| Osbpl3 |
C |
T |
6: 50,313,194 (GRCm39) |
|
probably null |
Het |
| Pam |
C |
T |
1: 97,826,065 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
T |
16: 13,358,942 (GRCm39) |
M600K |
probably benign |
Het |
| Pcdha11 |
C |
A |
18: 37,139,532 (GRCm39) |
T387N |
probably benign |
Het |
| Ptprt |
A |
C |
2: 161,397,381 (GRCm39) |
C1129G |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,856 (GRCm39) |
S645T |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,860,983 (GRCm39) |
S157L |
probably benign |
Het |
| Rnf40 |
T |
A |
7: 127,201,808 (GRCm39) |
I1000N |
probably damaging |
Het |
| Sap25 |
C |
T |
5: 137,640,494 (GRCm39) |
T141I |
probably null |
Het |
| Scube2 |
C |
T |
7: 109,430,969 (GRCm39) |
G410E |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,304,089 (GRCm39) |
E264G |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,666,521 (GRCm39) |
R129Q |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,856,149 (GRCm39) |
T596A |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,203 (GRCm39) |
R390G |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,377,768 (GRCm39) |
F842S |
probably damaging |
Het |
| Stk17b |
G |
T |
1: 53,796,898 (GRCm39) |
H290N |
probably damaging |
Het |
| Stpg3 |
A |
T |
2: 25,103,516 (GRCm39) |
V191D |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,120,290 (GRCm39) |
R350H |
probably damaging |
Het |
| Taf1b |
G |
A |
12: 24,566,947 (GRCm39) |
A214T |
possibly damaging |
Het |
| Tet3 |
T |
C |
6: 83,380,935 (GRCm39) |
E411G |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,381,808 (GRCm39) |
|
probably null |
Het |
| Tg |
T |
C |
15: 66,545,913 (GRCm39) |
Y212H |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,395,702 (GRCm39) |
I1234T |
probably damaging |
Het |
| Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
| Tram2 |
C |
G |
1: 21,074,150 (GRCm39) |
A263P |
possibly damaging |
Het |
| Treml1 |
T |
G |
17: 48,673,771 (GRCm39) |
S261A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,503 (GRCm39) |
E197G |
probably damaging |
Het |
| Tspan18 |
C |
T |
2: 93,050,462 (GRCm39) |
G54S |
probably damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,049,529 (GRCm39) |
V29A |
probably damaging |
Het |
| Zdhhc16 |
T |
C |
19: 41,929,155 (GRCm39) |
Y253H |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,874 (GRCm39) |
Y345C |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,510,041 (GRCm39) |
D101V |
possibly damaging |
Het |
| Zfp462 |
G |
A |
4: 55,080,735 (GRCm39) |
M2450I |
probably benign |
Het |
| Zfp52 |
C |
T |
17: 21,782,218 (GRCm39) |
L689F |
possibly damaging |
Het |
| Zim1 |
G |
A |
7: 6,690,739 (GRCm39) |
Q29* |
probably null |
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 |
|
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 |
|
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'- AAGTAACATCCCTCCATTGTGTTC -3'
(R):5'- GTTGTTGAAGTCACAGGCAAC -3'
Sequencing Primer
(F):5'- ACTAGCAGATGATAGACGTTCAAC -3'
(R):5'- AGGCAACATACTGTCTGTGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation