Incidental Mutation 'R6350:Nsmce4a'
| ID |
514153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsmce4a
|
| Ensembl Gene |
ENSMUSG00000040331 |
| Gene Name |
NSE4 homolog A, SMC5-SMC6 complex component |
| Synonyms |
2410003A14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.903)
|
| Stock # |
R6350 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130134256-130149111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130140829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 219
(I219K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124096]
[ENSMUST00000160289]
|
| AlphaFold |
G3XA30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159694
|
| SMART Domains |
Protein: ENSMUSP00000124471
Gene: ENSMUSG00000040331
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nse4-Nse3_bdg
|
36 |
94 |
2.2e-20 |
PFAM |
|
Pfam:Nse4_C
|
187 |
263 |
1.2e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160289
AA Change: I219K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: I219K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
64 |
N/A |
INTRINSIC |
|
Pfam:Nse4-Nse3_bdg
|
130 |
186 |
6.2e-18 |
PFAM |
|
Pfam:Nse4_C
|
282 |
372 |
6.2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207276
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,764 (GRCm39) |
K554E |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,449,156 (GRCm39) |
M609V |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,367,256 (GRCm39) |
T30A |
probably benign |
Het |
| Adam32 |
T |
C |
8: 25,353,445 (GRCm39) |
K715E |
possibly damaging |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,068 (GRCm39) |
L245P |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,147,579 (GRCm39) |
V926A |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,278 (GRCm39) |
H138Q |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,415 (GRCm39) |
L35P |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,265,406 (GRCm39) |
V490E |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Kcnmb1 |
A |
G |
11: 33,914,711 (GRCm39) |
K4R |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,940,657 (GRCm39) |
D594E |
probably benign |
Het |
| Lnpep |
G |
T |
17: 17,783,071 (GRCm39) |
H577N |
probably benign |
Het |
| Mief1 |
T |
C |
15: 80,133,804 (GRCm39) |
I287T |
probably damaging |
Het |
| Mras |
T |
C |
9: 99,293,560 (GRCm39) |
S27G |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,470,680 (GRCm39) |
C1043S |
probably benign |
Het |
| N4bp1 |
T |
C |
8: 87,588,596 (GRCm39) |
D114G |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,105,533 (GRCm39) |
I848F |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,256,775 (GRCm39) |
E232G |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,986,542 (GRCm39) |
I82N |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,293,855 (GRCm39) |
S36T |
probably benign |
Het |
| Pcdhb15 |
G |
A |
18: 37,608,414 (GRCm39) |
V549M |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,357,631 (GRCm39) |
|
probably null |
Het |
| Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,512 (GRCm39) |
L451P |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,562 (GRCm39) |
D497G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,776,282 (GRCm39) |
F1085S |
probably damaging |
Het |
| Slc6a18 |
G |
A |
13: 73,826,044 (GRCm39) |
A2V |
possibly damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably damaging |
Het |
| Zmynd15 |
T |
C |
11: 70,355,257 (GRCm39) |
V388A |
probably damaging |
Het |
|
| Other mutations in Nsmce4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02693:Nsmce4a
|
APN |
7 |
130,144,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0302:Nsmce4a
|
UTSW |
7 |
130,147,623 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0521:Nsmce4a
|
UTSW |
7 |
130,138,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0529:Nsmce4a
|
UTSW |
7 |
130,135,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1378:Nsmce4a
|
UTSW |
7 |
130,139,900 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1542:Nsmce4a
|
UTSW |
7 |
130,147,623 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2249:Nsmce4a
|
UTSW |
7 |
130,140,769 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Nsmce4a
|
UTSW |
7 |
130,135,321 (GRCm39) |
unclassified |
probably benign |
|
|
R5240:Nsmce4a
|
UTSW |
7 |
130,138,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Nsmce4a
|
UTSW |
7 |
130,138,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Nsmce4a
|
UTSW |
7 |
130,139,900 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6115:Nsmce4a
|
UTSW |
7 |
130,148,722 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6451:Nsmce4a
|
UTSW |
7 |
130,144,479 (GRCm39) |
|
|
|
|
R7203:Nsmce4a
|
UTSW |
7 |
130,141,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7422:Nsmce4a
|
UTSW |
7 |
130,135,547 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8187:Nsmce4a
|
UTSW |
7 |
130,144,519 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8873:Nsmce4a
|
UTSW |
7 |
130,148,886 (GRCm39) |
missense |
unknown |
|
|
R8989:Nsmce4a
|
UTSW |
7 |
130,141,587 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAACCTGACTCTGGACC -3'
(R):5'- ACAGCTGTCCAATGTGGTC -3'
Sequencing Primer
(F):5'- GGTACTATGTAGTCCAGCTGACC -3'
(R):5'- TTCAGTCAGTGAAAGGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation