Incidental Mutation 'R3039:Nsmce1'
| ID |
264900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsmce1
|
| Ensembl Gene |
ENSMUSG00000030750 |
| Gene Name |
NSE1 homolog, SMC5-SMC6 complex component |
| Synonyms |
2510027N19Rik |
| MMRRC Submission |
040555-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R3039 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
125066816-125090615 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125070328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 161
(E161G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033006]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033006
AA Change: E161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033006
Gene: ENSMUSG00000030750
AA Change: E161G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMC_Nse1
|
29 |
190 |
9.2e-26 |
PFAM |
|
Pfam:zf-RING-like
|
205 |
245 |
7.8e-13 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138616
AA Change: E185G
|
| SMART Domains |
Protein: ENSMUSP00000118058
Gene: ENSMUSG00000030750
AA Change: E185G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SMC_Nse1
|
54 |
200 |
3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149289
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
T |
A |
5: 113,830,797 (GRCm39) |
K64N |
unknown |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,793,317 (GRCm39) |
N228D |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,877,003 (GRCm39) |
S143P |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,228,758 (GRCm39) |
V2110A |
probably benign |
Het |
| Dusp29 |
A |
G |
14: 21,752,975 (GRCm39) |
V57A |
probably damaging |
Het |
| Gpat3 |
T |
C |
5: 101,045,671 (GRCm39) |
S432P |
possibly damaging |
Het |
| Lgi4 |
C |
T |
7: 30,759,492 (GRCm39) |
A16V |
probably benign |
Het |
| Pdgfa |
A |
G |
5: 138,972,114 (GRCm39) |
V95A |
probably benign |
Het |
| Pes1 |
T |
C |
11: 3,925,547 (GRCm39) |
Y221H |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,795,534 (GRCm39) |
E179G |
probably benign |
Het |
| Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,643,744 (GRCm39) |
S4369P |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,687,428 (GRCm39) |
I201T |
possibly damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,647 (GRCm39) |
D533G |
possibly damaging |
Het |
|
| Other mutations in Nsmce1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0466:Nsmce1
|
UTSW |
7 |
125,071,408 (GRCm39) |
splice site |
probably benign |
|
|
R1271:Nsmce1
|
UTSW |
7 |
125,070,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1403:Nsmce1
|
UTSW |
7 |
125,067,027 (GRCm39) |
unclassified |
probably benign |
|
|
R3196:Nsmce1
|
UTSW |
7 |
125,085,645 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3782:Nsmce1
|
UTSW |
7 |
125,085,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6480:Nsmce1
|
UTSW |
7 |
125,090,590 (GRCm39) |
missense |
probably benign |
|
|
R7047:Nsmce1
|
UTSW |
7 |
125,090,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7139:Nsmce1
|
UTSW |
7 |
125,068,254 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7503:Nsmce1
|
UTSW |
7 |
125,071,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7684:Nsmce1
|
UTSW |
7 |
125,070,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8166:Nsmce1
|
UTSW |
7 |
125,070,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9554:Nsmce1
|
UTSW |
7 |
125,066,994 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1177:Nsmce1
|
UTSW |
7 |
125,085,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCAGCACTTAAGACAGAC -3'
(R):5'- CATGCAGCTTCTCCTACCAG -3'
Sequencing Primer
(F):5'- GCAGCACTTAAGACAGACCATGTG -3'
(R):5'- AGCTTCTCCTACCAGGGCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation