Incidental Mutation 'R5019:Nalf1'
ID |
389095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nalf1
|
Ensembl Gene |
ENSMUSG00000079157 |
Gene Name |
NALCN channel auxiliary factor 1 |
Synonyms |
Fam155a |
MMRRC Submission |
042610-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
R5019 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
9255902-9821161 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9820240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 260
(V260A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110969]
[ENSMUST00000208933]
|
AlphaFold |
Q8CCS2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110969
AA Change: V260A
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106596 Gene: ENSMUSG00000079157 AA Change: V260A
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
110 |
N/A |
INTRINSIC |
low complexity region
|
132 |
164 |
N/A |
INTRINSIC |
low complexity region
|
426 |
440 |
N/A |
INTRINSIC |
low complexity region
|
449 |
459 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207869
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208933
AA Change: V260A
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
Meta Mutation Damage Score |
0.0915 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
Klra5 |
T |
C |
6: 129,876,352 (GRCm39) |
T152A |
probably benign |
Het |
Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
probably benign |
Het |
|
Other mutations in Nalf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01860:Nalf1
|
APN |
8 |
9,257,831 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02513:Nalf1
|
APN |
8 |
9,257,930 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02817:Nalf1
|
APN |
8 |
9,257,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03194:Nalf1
|
APN |
8 |
9,282,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R0842:Nalf1
|
UTSW |
8 |
9,820,114 (GRCm39) |
missense |
probably benign |
0.26 |
R1928:Nalf1
|
UTSW |
8 |
9,820,217 (GRCm39) |
missense |
probably benign |
|
R2004:Nalf1
|
UTSW |
8 |
9,820,607 (GRCm39) |
missense |
probably benign |
0.00 |
R4155:Nalf1
|
UTSW |
8 |
9,283,023 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4783:Nalf1
|
UTSW |
8 |
9,258,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R5333:Nalf1
|
UTSW |
8 |
9,820,762 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6798:Nalf1
|
UTSW |
8 |
9,820,205 (GRCm39) |
nonsense |
probably null |
|
R6956:Nalf1
|
UTSW |
8 |
9,820,744 (GRCm39) |
missense |
probably benign |
0.36 |
R7034:Nalf1
|
UTSW |
8 |
9,820,589 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8039:Nalf1
|
UTSW |
8 |
9,257,892 (GRCm39) |
missense |
probably benign |
0.03 |
R8382:Nalf1
|
UTSW |
8 |
9,257,972 (GRCm39) |
missense |
probably benign |
0.05 |
R9299:Nalf1
|
UTSW |
8 |
9,820,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R9342:Nalf1
|
UTSW |
8 |
9,821,006 (GRCm39) |
missense |
probably damaging |
0.99 |
R9658:Nalf1
|
UTSW |
8 |
9,820,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATTAAACTTACAAAACCGGAGCC -3'
(R):5'- GCGCCTAGAGACTTGTTACC -3'
Sequencing Primer
(F):5'- AAAGGAACCCGCTGTGC -3'
(R):5'- TAGAGACTTGTTACCCCCAGG -3'
|
Posted On |
2016-06-06 |