Incidental Mutation 'IGL02104:Pom121l2'
ID |
279899 |
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 # |
IGL02104
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 22166445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 239
(H239N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
AlphaFold |
Q5SW25 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017126
AA Change: H239N
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000017126 Gene: ENSMUSG00000016982 AA Change: H239N
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 |
possibly damaging
Transcript: ENSMUST00000117882
AA Change: H239N
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113688 Gene: ENSMUSG00000016982 AA Change: H239N
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
T |
C |
7: 124,930,714 (GRCm39) |
|
noncoding transcript |
Het |
Abcb5 |
T |
A |
12: 118,904,415 (GRCm39) |
Q125L |
probably damaging |
Het |
Acap3 |
G |
A |
4: 155,989,542 (GRCm39) |
R662H |
probably damaging |
Het |
Aox4 |
T |
A |
1: 58,275,816 (GRCm39) |
|
probably benign |
Het |
Aqp6 |
T |
C |
15: 99,502,159 (GRCm39) |
S285P |
probably benign |
Het |
Arhgef5 |
A |
T |
6: 43,249,345 (GRCm39) |
Q32L |
probably damaging |
Het |
B3gnt6 |
G |
T |
7: 97,843,308 (GRCm39) |
D217E |
probably damaging |
Het |
Cfap251 |
T |
A |
5: 123,440,761 (GRCm39) |
L1106* |
probably null |
Het |
Chd6 |
T |
C |
2: 160,819,432 (GRCm39) |
I1338V |
probably benign |
Het |
Clic6 |
A |
G |
16: 92,295,367 (GRCm39) |
E9G |
possibly damaging |
Het |
Col11a1 |
T |
A |
3: 113,975,046 (GRCm39) |
|
probably null |
Het |
Dcdc2b |
T |
A |
4: 129,504,867 (GRCm39) |
D88V |
probably benign |
Het |
Dis3l |
T |
A |
9: 64,217,611 (GRCm39) |
K791N |
possibly damaging |
Het |
Dmxl2 |
A |
T |
9: 54,311,299 (GRCm39) |
Y1008* |
probably null |
Het |
Dnah11 |
A |
G |
12: 118,156,125 (GRCm39) |
V175A |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,307,263 (GRCm39) |
|
probably null |
Het |
Fam117b |
C |
T |
1: 59,988,278 (GRCm39) |
T219I |
probably benign |
Het |
Fgf21 |
T |
A |
7: 45,264,648 (GRCm39) |
Q28L |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,393,638 (GRCm39) |
Q391R |
possibly damaging |
Het |
Gars1 |
A |
G |
6: 55,054,682 (GRCm39) |
D663G |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,971,469 (GRCm39) |
F69L |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
Map3k1 |
A |
T |
13: 111,892,777 (GRCm39) |
V826E |
probably damaging |
Het |
Mapkap1 |
T |
A |
2: 34,513,482 (GRCm39) |
Y497* |
probably null |
Het |
Mast3 |
T |
C |
8: 71,240,550 (GRCm39) |
I296V |
possibly damaging |
Het |
Mon1a |
T |
G |
9: 107,778,814 (GRCm39) |
L346R |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,912,036 (GRCm39) |
L353S |
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,364,815 (GRCm39) |
Y2634H |
probably damaging |
Het |
Mylk |
A |
G |
16: 34,635,805 (GRCm39) |
T9A |
probably benign |
Het |
Or10j2 |
T |
C |
1: 173,098,603 (GRCm39) |
V287A |
probably damaging |
Het |
Or14j8 |
A |
C |
17: 38,263,182 (GRCm39) |
H244Q |
probably damaging |
Het |
Or55b3 |
C |
A |
7: 102,126,544 (GRCm39) |
V178F |
probably damaging |
Het |
Or5an6 |
T |
A |
19: 12,372,263 (GRCm39) |
V212D |
probably damaging |
Het |
Or5b122 |
T |
A |
19: 13,562,968 (GRCm39) |
M57K |
probably damaging |
Het |
Or5m8 |
G |
T |
2: 85,822,730 (GRCm39) |
D190Y |
probably damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,166 (GRCm39) |
H176Q |
probably benign |
Het |
Pabpc2 |
A |
C |
18: 39,907,936 (GRCm39) |
Q400H |
possibly damaging |
Het |
Pigg |
A |
G |
5: 108,489,963 (GRCm39) |
Y856C |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,306,865 (GRCm39) |
V508E |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,859,997 (GRCm39) |
S1098P |
probably benign |
Het |
Rnf212 |
A |
G |
5: 108,895,306 (GRCm39) |
I41T |
possibly damaging |
Het |
Rngtt |
A |
G |
4: 33,320,517 (GRCm39) |
|
probably null |
Het |
Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
Scd4 |
G |
T |
19: 44,333,186 (GRCm39) |
V304F |
possibly damaging |
Het |
Sez6l |
A |
G |
5: 112,574,630 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,088,248 (GRCm39) |
R158G |
probably benign |
Het |
Stil |
T |
C |
4: 114,898,679 (GRCm39) |
L1103P |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,670,959 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
C |
T |
19: 20,809,818 (GRCm39) |
D255N |
probably benign |
Het |
Trank1 |
C |
A |
9: 111,219,780 (GRCm39) |
D2172E |
possibly damaging |
Het |
Tyro3 |
G |
A |
2: 119,643,681 (GRCm39) |
R718H |
probably damaging |
Het |
Vamp2 |
C |
A |
11: 68,981,483 (GRCm39) |
F114L |
probably benign |
Het |
|
Other mutations in Pom121l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02223:Pom121l2
|
APN |
13 |
22,166,265 (GRCm39) |
missense |
probably benign |
0.01 |
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 |