Incidental Mutation 'R4548:Nemp1'
| ID |
333871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nemp1
|
| Ensembl Gene |
ENSMUSG00000040195 |
| Gene Name |
nuclear envelope integral membrane protein 1 |
| Synonyms |
Tmem194 |
| MMRRC Submission |
041594-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127512934-127536918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127532213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 373
(E373G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048099]
[ENSMUST00000118612]
[ENSMUST00000118728]
|
| AlphaFold |
Q6ZQE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048099
AA Change: E422G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
AA Change: E422G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:DUF2215
|
150 |
396 |
1.2e-94 |
PFAM |
|
low complexity region
|
416 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118612
|
| SMART Domains |
Protein: ENSMUSP00000113337
Gene: ENSMUSG00000040195
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:DUF2215
|
149 |
325 |
4.2e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118728
AA Change: E373G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113473
Gene: ENSMUSG00000040195
AA Change: E373G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2215
|
100 |
348 |
7.2e-105 |
PFAM |
|
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
| Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
| Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
| Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
| Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
| Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
| Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
| Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
| Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
| Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
| Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,156,134 (GRCm39) |
K409* |
probably null |
Het |
| Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
Het |
|
| Other mutations in Nemp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Nemp1
|
APN |
10 |
127,528,868 (GRCm39) |
missense |
probably benign |
0.02 |
|
Assassin
|
UTSW |
10 |
127,525,212 (GRCm39) |
nonsense |
probably null |
|
|
Brightside
|
UTSW |
10 |
127,525,319 (GRCm39) |
splice site |
probably null |
|
|
Cheery
|
UTSW |
10 |
127,513,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
kidon
|
UTSW |
10 |
127,525,227 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT4453001:Nemp1
|
UTSW |
10 |
127,532,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0815:Nemp1
|
UTSW |
10 |
127,528,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1719:Nemp1
|
UTSW |
10 |
127,532,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Nemp1
|
UTSW |
10 |
127,529,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2042:Nemp1
|
UTSW |
10 |
127,532,203 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3938:Nemp1
|
UTSW |
10 |
127,531,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Nemp1
|
UTSW |
10 |
127,530,462 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4981:Nemp1
|
UTSW |
10 |
127,529,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Nemp1
|
UTSW |
10 |
127,526,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5784:Nemp1
|
UTSW |
10 |
127,513,067 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6073:Nemp1
|
UTSW |
10 |
127,525,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6171:Nemp1
|
UTSW |
10 |
127,525,319 (GRCm39) |
splice site |
probably null |
|
|
R6294:Nemp1
|
UTSW |
10 |
127,530,391 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7249:Nemp1
|
UTSW |
10 |
127,529,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Nemp1
|
UTSW |
10 |
127,531,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Nemp1
|
UTSW |
10 |
127,525,212 (GRCm39) |
nonsense |
probably null |
|
|
R7468:Nemp1
|
UTSW |
10 |
127,528,923 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7998:Nemp1
|
UTSW |
10 |
127,529,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8342:Nemp1
|
UTSW |
10 |
127,528,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8672:Nemp1
|
UTSW |
10 |
127,512,988 (GRCm39) |
missense |
probably benign |
|
|
R8756:Nemp1
|
UTSW |
10 |
127,528,845 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9228:Nemp1
|
UTSW |
10 |
127,525,227 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9749:Nemp1
|
UTSW |
10 |
127,524,198 (GRCm39) |
missense |
probably benign |
0.44 |
|
X0011:Nemp1
|
UTSW |
10 |
127,525,180 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Nemp1
|
UTSW |
10 |
127,529,388 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACTGAGCCTTTTAGTCTG -3'
(R):5'- ACCAAAAGTACTGCCAGAGG -3'
Sequencing Primer
(F):5'- CTTATTTTGAAAGCCGTTCAGGAAGG -3'
(R):5'- CCAAAAGTACTGCCAGAGGGTAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation