Incidental Mutation 'IGL02159:1700017N19Rik'
| ID |
282356 |
| 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 # |
IGL02159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
100426346-100454257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100446527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 257
(L257S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041162]
[ENSMUST00000186825]
[ENSMUST00000187119]
[ENSMUST00000188736]
[ENSMUST00000190386]
[ENSMUST00000190708]
[ENSMUST00000191033]
[ENSMUST00000191336]
[ENSMUST00000218464]
|
| AlphaFold |
A0A087WPJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041162
AA Change: L257S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186825
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187119
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188736
AA Change: L256S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190386
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190708
AA Change: L311S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191033
AA Change: L57S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191336
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218464
AA Change: L257S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
| Afmid |
T |
C |
11: 117,727,252 (GRCm39) |
W267R |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
| Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
| Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
| Clec4a2 |
C |
T |
6: 123,116,285 (GRCm39) |
S150L |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
| Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
| Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
| Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
| Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
| Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
| Muc13 |
C |
A |
16: 33,619,849 (GRCm39) |
T199K |
unknown |
Het |
| Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
| Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,098,838 (GRCm39) |
|
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,271,057 (GRCm39) |
L478P |
probably benign |
Het |
| Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,071,557 (GRCm39) |
L388P |
possibly damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
| Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
| Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
| Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
| Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
possibly damaging |
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 |
|
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 |
|
|
IGL02692:1700017N19Rik
|
APN |
10 |
100,439,410 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
Incidental Mutation