Incidental Mutation 'IGL03127:Nrsn1'
| ID |
410193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrsn1
|
| Ensembl Gene |
ENSMUSG00000048978 |
| Gene Name |
neurensin 1 |
| Synonyms |
Vmp, Neuro-p24, Neurensin-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03127
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
25436022-25453979 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25437700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 76
(L76P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128979
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057866]
[ENSMUST00000167305]
|
| AlphaFold |
P97799 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057866
AA Change: L76P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055048
Gene: ENSMUSG00000048978
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurensin
|
24 |
154 |
2.3e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156448
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167305
AA Change: L76P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128979
Gene: ENSMUSG00000048978
AA Change: L76P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurensin
|
24 |
159 |
3.6e-57 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
| Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
| Atl2 |
T |
C |
17: 80,160,283 (GRCm39) |
M264V |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
| Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
| Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
| F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
| Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
| Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
| H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
| Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
| Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
| Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
| Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
| Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
| Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
| Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
Het |
|
| Other mutations in Nrsn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02839:Nrsn1
|
APN |
13 |
25,437,527 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0549:Nrsn1
|
UTSW |
13 |
25,446,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3076:Nrsn1
|
UTSW |
13 |
25,437,542 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4804:Nrsn1
|
UTSW |
13 |
25,437,580 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6020:Nrsn1
|
UTSW |
13 |
25,437,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Nrsn1
|
UTSW |
13 |
25,437,724 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7116:Nrsn1
|
UTSW |
13 |
25,437,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7226:Nrsn1
|
UTSW |
13 |
25,437,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7859:Nrsn1
|
UTSW |
13 |
25,446,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Nrsn1
|
UTSW |
13 |
25,437,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9102:Nrsn1
|
UTSW |
13 |
25,437,517 (GRCm39) |
missense |
probably benign |
|
|
R9753:Nrsn1
|
UTSW |
13 |
25,437,563 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation