Incidental Mutation 'IGL02223:Pom121l2'
ID |
285238 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pom121l2
|
Ensembl Gene |
ENSMUSG00000016982 |
Gene Name |
POM121 transmembrane nucleoporin like 2 |
Synonyms |
LOC195236 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL02223
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22166265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 179
(S179P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
AlphaFold |
Q5SW25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017126
AA Change: S179P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000017126 Gene: ENSMUSG00000016982 AA Change: S179P
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
60 |
N/A |
INTRINSIC |
Pfam:POM121
|
162 |
301 |
3.5e-24 |
PFAM |
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
low complexity region
|
413 |
433 |
N/A |
INTRINSIC |
low complexity region
|
517 |
526 |
N/A |
INTRINSIC |
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
low complexity region
|
697 |
712 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117882
AA Change: S179P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000113688 Gene: ENSMUSG00000016982 AA Change: S179P
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
60 |
N/A |
INTRINSIC |
Pfam:POM121
|
162 |
301 |
2e-24 |
PFAM |
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
low complexity region
|
413 |
433 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
C |
T |
17: 24,506,909 (GRCm39) |
W1148* |
probably null |
Het |
Adam17 |
A |
G |
12: 21,411,706 (GRCm39) |
S62P |
possibly damaging |
Het |
Akap8 |
T |
C |
17: 32,535,621 (GRCm39) |
Y131C |
probably damaging |
Het |
Ccdc169 |
A |
G |
3: 55,049,721 (GRCm39) |
N48S |
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,915,966 (GRCm39) |
T241A |
probably damaging |
Het |
Cct7 |
G |
T |
6: 85,439,023 (GRCm39) |
M112I |
probably benign |
Het |
Cftr |
G |
A |
6: 18,221,481 (GRCm39) |
A198T |
probably damaging |
Het |
Crk |
T |
C |
11: 75,594,205 (GRCm39) |
V264A |
probably damaging |
Het |
Dhx34 |
T |
C |
7: 15,932,584 (GRCm39) |
T1071A |
probably benign |
Het |
Dlst |
A |
G |
12: 85,177,692 (GRCm39) |
I362V |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,163,955 (GRCm39) |
E3100G |
probably benign |
Het |
Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
Foxe3 |
C |
A |
4: 114,782,906 (GRCm39) |
R102L |
probably damaging |
Het |
Gale |
T |
C |
4: 135,693,817 (GRCm39) |
F162S |
probably damaging |
Het |
Gipc2 |
G |
A |
3: 151,833,687 (GRCm39) |
P198L |
probably damaging |
Het |
Gm5258 |
A |
G |
1: 86,251,118 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch11 |
A |
G |
17: 79,152,608 (GRCm39) |
T259A |
probably benign |
Het |
H2-M10.3 |
T |
C |
17: 36,678,972 (GRCm39) |
N32S |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,340,171 (GRCm39) |
I999V |
probably damaging |
Het |
Ibtk |
A |
G |
9: 85,592,419 (GRCm39) |
|
probably benign |
Het |
Ift46 |
A |
G |
9: 44,697,609 (GRCm39) |
S165G |
probably damaging |
Het |
Igsf1 |
A |
G |
X: 48,873,897 (GRCm39) |
S389P |
probably damaging |
Het |
Lrrd1 |
A |
C |
5: 3,900,211 (GRCm39) |
N172T |
probably benign |
Het |
Mamdc2 |
G |
A |
19: 23,336,507 (GRCm39) |
|
probably benign |
Het |
Matn2 |
A |
G |
15: 34,423,864 (GRCm39) |
N574S |
probably benign |
Het |
Med1 |
T |
C |
11: 98,048,702 (GRCm39) |
D683G |
probably damaging |
Het |
Mon1a |
A |
G |
9: 107,778,484 (GRCm39) |
E236G |
probably damaging |
Het |
Moxd2 |
T |
A |
6: 40,861,967 (GRCm39) |
I202F |
probably damaging |
Het |
Nif3l1 |
T |
A |
1: 58,487,202 (GRCm39) |
Y129* |
probably null |
Het |
Nlrp5 |
T |
C |
7: 23,129,447 (GRCm39) |
|
probably benign |
Het |
Odad3 |
G |
A |
9: 21,904,908 (GRCm39) |
R293C |
probably damaging |
Het |
Or5k14 |
C |
T |
16: 58,693,057 (GRCm39) |
G152E |
probably damaging |
Het |
Pcx |
T |
C |
19: 4,652,006 (GRCm39) |
Y84H |
probably damaging |
Het |
Rexo4 |
C |
A |
2: 26,845,511 (GRCm39) |
C369F |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,209,993 (GRCm39) |
N692D |
possibly damaging |
Het |
Scmh1 |
C |
A |
4: 120,372,416 (GRCm39) |
H406Q |
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,445,060 (GRCm39) |
D372G |
probably damaging |
Het |
Snip1 |
T |
C |
4: 124,966,545 (GRCm39) |
F325S |
possibly damaging |
Het |
Spr-ps1 |
C |
T |
6: 85,132,181 (GRCm39) |
|
noncoding transcript |
Het |
Stk36 |
A |
G |
1: 74,662,496 (GRCm39) |
Y538C |
possibly damaging |
Het |
Svil |
A |
G |
18: 5,105,879 (GRCm39) |
|
probably benign |
Het |
Syne2 |
A |
G |
12: 76,155,079 (GRCm39) |
T6787A |
probably benign |
Het |
Tbcel |
T |
G |
9: 42,363,014 (GRCm39) |
M10L |
probably benign |
Het |
Tesk2 |
T |
A |
4: 116,599,022 (GRCm39) |
Y43* |
probably null |
Het |
Tjp1 |
C |
T |
7: 64,972,349 (GRCm39) |
R605Q |
probably damaging |
Het |
Tmem65 |
A |
G |
15: 58,662,000 (GRCm39) |
|
probably benign |
Het |
Tnnt2 |
A |
G |
1: 135,769,753 (GRCm39) |
|
probably benign |
Het |
Trmt44 |
T |
C |
5: 35,731,989 (GRCm39) |
E134G |
probably benign |
Het |
Trpv2 |
T |
C |
11: 62,472,081 (GRCm39) |
L91P |
probably benign |
Het |
Ttn |
G |
A |
2: 76,807,463 (GRCm39) |
T90I |
probably damaging |
Het |
Yy1 |
A |
G |
12: 108,759,466 (GRCm39) |
E43G |
unknown |
Het |
|
Other mutations in Pom121l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02104:Pom121l2
|
APN |
13 |
22,166,445 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0401:Pom121l2
|
UTSW |
13 |
22,166,395 (GRCm39) |
missense |
probably benign |
0.01 |
R0402:Pom121l2
|
UTSW |
13 |
22,172,649 (GRCm39) |
splice site |
probably benign |
|
R0437:Pom121l2
|
UTSW |
13 |
22,167,375 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0575:Pom121l2
|
UTSW |
13 |
22,168,338 (GRCm39) |
missense |
probably damaging |
0.99 |
R0605:Pom121l2
|
UTSW |
13 |
22,166,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R0892:Pom121l2
|
UTSW |
13 |
22,166,644 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0992:Pom121l2
|
UTSW |
13 |
22,166,929 (GRCm39) |
missense |
probably benign |
0.01 |
R1259:Pom121l2
|
UTSW |
13 |
22,166,297 (GRCm39) |
nonsense |
probably null |
|
R1564:Pom121l2
|
UTSW |
13 |
22,167,523 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1603:Pom121l2
|
UTSW |
13 |
22,167,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R1836:Pom121l2
|
UTSW |
13 |
22,167,954 (GRCm39) |
missense |
probably benign |
0.03 |
R1970:Pom121l2
|
UTSW |
13 |
22,167,642 (GRCm39) |
missense |
probably damaging |
0.98 |
R2018:Pom121l2
|
UTSW |
13 |
22,166,904 (GRCm39) |
missense |
possibly damaging |
0.54 |
R2180:Pom121l2
|
UTSW |
13 |
22,166,145 (GRCm39) |
missense |
probably benign |
0.08 |
R2277:Pom121l2
|
UTSW |
13 |
22,168,417 (GRCm39) |
missense |
probably benign |
|
R2365:Pom121l2
|
UTSW |
13 |
22,167,954 (GRCm39) |
missense |
probably benign |
0.20 |
R3951:Pom121l2
|
UTSW |
13 |
22,166,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R4371:Pom121l2
|
UTSW |
13 |
22,166,409 (GRCm39) |
missense |
probably benign |
0.01 |
R4574:Pom121l2
|
UTSW |
13 |
22,168,572 (GRCm39) |
missense |
probably benign |
0.02 |
R4593:Pom121l2
|
UTSW |
13 |
22,168,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R4983:Pom121l2
|
UTSW |
13 |
22,167,984 (GRCm39) |
missense |
probably benign |
0.02 |
R5320:Pom121l2
|
UTSW |
13 |
22,166,015 (GRCm39) |
nonsense |
probably null |
|
R5661:Pom121l2
|
UTSW |
13 |
22,168,425 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5662:Pom121l2
|
UTSW |
13 |
22,166,358 (GRCm39) |
missense |
probably benign |
0.01 |
R5908:Pom121l2
|
UTSW |
13 |
22,165,984 (GRCm39) |
missense |
probably damaging |
0.99 |
R5980:Pom121l2
|
UTSW |
13 |
22,167,546 (GRCm39) |
missense |
probably damaging |
0.96 |
R6145:Pom121l2
|
UTSW |
13 |
22,166,472 (GRCm39) |
nonsense |
probably null |
|
R6160:Pom121l2
|
UTSW |
13 |
22,167,838 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6327:Pom121l2
|
UTSW |
13 |
22,166,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R6504:Pom121l2
|
UTSW |
13 |
22,167,631 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6745:Pom121l2
|
UTSW |
13 |
22,167,868 (GRCm39) |
missense |
probably benign |
0.00 |
R6750:Pom121l2
|
UTSW |
13 |
22,166,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R6752:Pom121l2
|
UTSW |
13 |
22,165,939 (GRCm39) |
missense |
probably damaging |
0.99 |
R6796:Pom121l2
|
UTSW |
13 |
22,167,694 (GRCm39) |
missense |
probably benign |
0.09 |
R6984:Pom121l2
|
UTSW |
13 |
22,166,191 (GRCm39) |
missense |
probably benign |
0.33 |
R7284:Pom121l2
|
UTSW |
13 |
22,166,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Pom121l2
|
UTSW |
13 |
22,168,502 (GRCm39) |
missense |
probably benign |
0.16 |
R7568:Pom121l2
|
UTSW |
13 |
22,166,796 (GRCm39) |
missense |
probably benign |
0.03 |
R7624:Pom121l2
|
UTSW |
13 |
22,167,699 (GRCm39) |
missense |
probably damaging |
0.97 |
R7832:Pom121l2
|
UTSW |
13 |
22,168,048 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7956:Pom121l2
|
UTSW |
13 |
22,167,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Pom121l2
|
UTSW |
13 |
22,166,544 (GRCm39) |
missense |
probably benign |
0.00 |
R8506:Pom121l2
|
UTSW |
13 |
22,167,789 (GRCm39) |
missense |
probably benign |
0.04 |
R9167:Pom121l2
|
UTSW |
13 |
22,167,160 (GRCm39) |
missense |
probably damaging |
0.97 |
R9313:Pom121l2
|
UTSW |
13 |
22,168,506 (GRCm39) |
missense |
probably benign |
0.09 |
R9332:Pom121l2
|
UTSW |
13 |
22,165,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R9463:Pom121l2
|
UTSW |
13 |
22,168,402 (GRCm39) |
missense |
probably benign |
0.18 |
Z1177:Pom121l2
|
UTSW |
13 |
22,172,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Posted On |
2015-04-16 |