Incidental Mutation 'IGL02692:1700017N19Rik'
ID |
303784 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
1700017N19Rik
|
Ensembl Gene |
ENSMUSG00000056912 |
Gene Name |
RIKEN cDNA 1700017N19 gene |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL02692
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
100426346-100454257 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 100439410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 72
(S72R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041162]
[ENSMUST00000186825]
[ENSMUST00000187119]
[ENSMUST00000188736]
[ENSMUST00000188930]
[ENSMUST00000190386]
[ENSMUST00000190708]
[ENSMUST00000191336]
[ENSMUST00000218464]
|
AlphaFold |
A0A087WPJ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041162
AA Change: S140R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186825
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187119
AA Change: S140R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188736
AA Change: S140R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190386
AA Change: S140R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190708
AA Change: S194R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191336
AA Change: S72R
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218464
AA Change: S140R
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
T |
C |
6: 65,929,792 (GRCm39) |
V9A |
probably damaging |
Het |
Actl11 |
A |
G |
9: 107,806,507 (GRCm39) |
N277D |
probably benign |
Het |
Adam2 |
T |
A |
14: 66,311,536 (GRCm39) |
I57F |
probably damaging |
Het |
Adgrf1 |
T |
C |
17: 43,614,669 (GRCm39) |
F251S |
probably damaging |
Het |
Anapc15-ps |
T |
C |
10: 95,509,089 (GRCm39) |
I64V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,021,871 (GRCm39) |
V651A |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,172,482 (GRCm39) |
N163D |
probably benign |
Het |
B4galnt3 |
G |
A |
6: 120,187,272 (GRCm39) |
R708C |
probably damaging |
Het |
Capza2 |
C |
T |
6: 17,654,115 (GRCm39) |
Q56* |
probably null |
Het |
Cspg4 |
T |
A |
9: 56,794,738 (GRCm39) |
H824Q |
probably benign |
Het |
Dock7 |
G |
A |
4: 98,875,623 (GRCm39) |
P1106S |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,005,235 (GRCm39) |
Y1878C |
probably damaging |
Het |
Grk2 |
A |
T |
19: 4,340,716 (GRCm39) |
|
probably benign |
Het |
Lmbrd2 |
G |
A |
15: 9,149,155 (GRCm39) |
V13I |
possibly damaging |
Het |
Loxhd1 |
G |
T |
18: 77,444,609 (GRCm39) |
C336F |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,330,596 (GRCm39) |
F355L |
probably null |
Het |
Mov10 |
C |
A |
3: 104,708,119 (GRCm39) |
E503* |
probably null |
Het |
Nt5dc3 |
T |
A |
10: 86,640,642 (GRCm39) |
|
probably null |
Het |
Or2w3b |
A |
G |
11: 58,623,343 (GRCm39) |
V216A |
probably benign |
Het |
Phf20 |
T |
A |
2: 156,140,498 (GRCm39) |
M724K |
probably damaging |
Het |
Pla2g2e |
G |
T |
4: 138,609,870 (GRCm39) |
|
probably benign |
Het |
Polq |
T |
A |
16: 36,880,989 (GRCm39) |
V772E |
probably damaging |
Het |
Rhoh |
A |
G |
5: 66,050,143 (GRCm39) |
R138G |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Septin7 |
A |
G |
9: 25,207,786 (GRCm39) |
|
probably benign |
Het |
Serpina9 |
A |
C |
12: 103,974,665 (GRCm39) |
F163V |
probably damaging |
Het |
Slc2a13 |
A |
T |
15: 91,205,861 (GRCm39) |
F442Y |
probably benign |
Het |
Slc34a1 |
G |
A |
13: 55,551,049 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
T |
C |
6: 114,139,100 (GRCm39) |
F236S |
probably damaging |
Het |
Usp1 |
A |
G |
4: 98,817,197 (GRCm39) |
K130E |
probably benign |
Het |
Zfp386 |
A |
G |
12: 116,022,855 (GRCm39) |
E156G |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,450,825 (GRCm39) |
V325I |
unknown |
Het |
|
Other mutations in 1700017N19Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01565:1700017N19Rik
|
APN |
10 |
100,439,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02159:1700017N19Rik
|
APN |
10 |
100,446,527 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02556:1700017N19Rik
|
APN |
10 |
100,446,579 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02629:1700017N19Rik
|
APN |
10 |
100,445,006 (GRCm39) |
splice site |
probably benign |
|
IGL02962:1700017N19Rik
|
APN |
10 |
100,446,455 (GRCm39) |
splice site |
probably null |
|
R0145:1700017N19Rik
|
UTSW |
10 |
100,437,783 (GRCm39) |
missense |
probably damaging |
0.96 |
R0402:1700017N19Rik
|
UTSW |
10 |
100,445,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R1514:1700017N19Rik
|
UTSW |
10 |
100,448,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R1519:1700017N19Rik
|
UTSW |
10 |
100,439,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R1680:1700017N19Rik
|
UTSW |
10 |
100,439,390 (GRCm39) |
missense |
probably damaging |
0.98 |
R1686:1700017N19Rik
|
UTSW |
10 |
100,448,722 (GRCm39) |
missense |
probably damaging |
0.97 |
R3951:1700017N19Rik
|
UTSW |
10 |
100,451,158 (GRCm39) |
splice site |
probably benign |
|
R3952:1700017N19Rik
|
UTSW |
10 |
100,451,158 (GRCm39) |
splice site |
probably benign |
|
R4423:1700017N19Rik
|
UTSW |
10 |
100,441,495 (GRCm39) |
missense |
probably damaging |
0.99 |
R4905:1700017N19Rik
|
UTSW |
10 |
100,448,680 (GRCm39) |
splice site |
probably null |
|
R5507:1700017N19Rik
|
UTSW |
10 |
100,445,095 (GRCm39) |
missense |
probably benign |
0.02 |
R5898:1700017N19Rik
|
UTSW |
10 |
100,451,070 (GRCm39) |
missense |
probably benign |
0.20 |
R5898:1700017N19Rik
|
UTSW |
10 |
100,448,762 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5977:1700017N19Rik
|
UTSW |
10 |
100,451,106 (GRCm39) |
missense |
probably damaging |
0.99 |
R7034:1700017N19Rik
|
UTSW |
10 |
100,445,118 (GRCm39) |
critical splice donor site |
probably null |
|
R7036:1700017N19Rik
|
UTSW |
10 |
100,445,118 (GRCm39) |
critical splice donor site |
probably null |
|
R7394:1700017N19Rik
|
UTSW |
10 |
100,445,038 (GRCm39) |
missense |
probably benign |
0.01 |
R7412:1700017N19Rik
|
UTSW |
10 |
100,448,691 (GRCm39) |
nonsense |
probably null |
|
R7870:1700017N19Rik
|
UTSW |
10 |
100,441,505 (GRCm39) |
missense |
probably benign |
|
R7914:1700017N19Rik
|
UTSW |
10 |
100,428,538 (GRCm39) |
missense |
probably benign |
|
R8466:1700017N19Rik
|
UTSW |
10 |
100,437,873 (GRCm39) |
missense |
probably benign |
0.00 |
R8558:1700017N19Rik
|
UTSW |
10 |
100,430,497 (GRCm39) |
missense |
probably benign |
0.23 |
R9004:1700017N19Rik
|
UTSW |
10 |
100,454,197 (GRCm39) |
unclassified |
probably benign |
|
R9105:1700017N19Rik
|
UTSW |
10 |
100,439,407 (GRCm39) |
nonsense |
probably null |
|
R9641:1700017N19Rik
|
UTSW |
10 |
100,430,498 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:1700017N19Rik
|
UTSW |
10 |
100,441,501 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:1700017N19Rik
|
UTSW |
10 |
100,448,291 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |