Incidental Mutation 'IGL02693:Nsmce4a'
| ID |
303820 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.915)
|
| Stock # |
IGL02693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
130134256-130149111 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130144538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 122
(S122P)
|
| 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: S122P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125300
Gene: ENSMUSG00000040331
AA Change: S122P
| 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 |
silent
Transcript: ENSMUST00000161076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207276
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,666,506 (GRCm39) |
D271G |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,540,077 (GRCm39) |
V1478E |
possibly damaging |
Het |
| Ckap5 |
C |
T |
2: 91,400,556 (GRCm39) |
P636L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,500,113 (GRCm39) |
V127A |
probably damaging |
Het |
| Cs |
A |
G |
10: 128,185,678 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,113,775 (GRCm39) |
E170K |
probably benign |
Het |
| Gm5866 |
A |
T |
5: 52,740,558 (GRCm39) |
|
noncoding transcript |
Het |
| Lpin3 |
T |
C |
2: 160,746,975 (GRCm39) |
V794A |
probably damaging |
Het |
| Ly86 |
T |
G |
13: 37,559,005 (GRCm39) |
I68S |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,172 (GRCm39) |
I11V |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,102,662 (GRCm39) |
E112G |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,877 (GRCm39) |
C111W |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,340 (GRCm39) |
E428G |
probably benign |
Het |
| Phkb |
T |
G |
8: 86,668,863 (GRCm39) |
F297V |
probably damaging |
Het |
| Pianp |
T |
G |
6: 124,978,598 (GRCm39) |
F268V |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,940,830 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,101,855 (GRCm39) |
G2453E |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,643,699 (GRCm39) |
N350D |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
G |
16: 22,932,960 (GRCm39) |
S326P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc35f1 |
A |
T |
10: 52,809,224 (GRCm39) |
L70F |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,947 (GRCm39) |
T448A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,121,092 (GRCm39) |
I3973V |
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,488 (GRCm39) |
R101S |
possibly damaging |
Het |
| Stoml1 |
T |
A |
9: 58,164,359 (GRCm39) |
I149N |
probably damaging |
Het |
| Sytl1 |
A |
T |
4: 132,985,057 (GRCm39) |
C180S |
probably benign |
Het |
| Traf6 |
T |
C |
2: 101,518,850 (GRCm39) |
L113P |
possibly damaging |
Het |
| Trappc9 |
A |
G |
15: 72,835,542 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,725 (GRCm39) |
Y317H |
probably damaging |
Het |
| Zfp334 |
T |
C |
2: 165,222,433 (GRCm39) |
T537A |
possibly damaging |
Het |
|
| Other mutations in Nsmce4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6350:Nsmce4a
|
UTSW |
7 |
130,140,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation