Incidental Mutation 'R9463:Pom121l2'
ID |
715022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pom121l2
|
Ensembl Gene |
ENSMUSG00000016982 |
Gene Name |
POM121 transmembrane nucleoporin like 2 |
Synonyms |
LOC195236 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R9463 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 22168402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 891
(I891S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
AlphaFold |
Q5SW25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017126
AA Change: I891S
PolyPhen 2
Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000017126 Gene: ENSMUSG00000016982 AA Change: I891S
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
|
SMART Domains |
Protein: ENSMUSP00000113688 Gene: ENSMUSG00000016982
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
C |
T |
14: 8,256,789 (GRCm38) |
E25K |
probably damaging |
Het |
Acss2 |
A |
G |
2: 155,392,032 (GRCm39) |
Y218C |
probably benign |
Het |
Armc8 |
C |
T |
9: 99,378,203 (GRCm39) |
|
probably null |
Het |
Aspg |
G |
A |
12: 112,089,824 (GRCm39) |
G454D |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,809,051 (GRCm39) |
T623A |
|
Het |
Cacna1e |
A |
G |
1: 154,357,411 (GRCm39) |
L655P |
probably damaging |
Het |
Cant1 |
T |
A |
11: 118,302,281 (GRCm39) |
N12I |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,475,382 (GRCm39) |
T445A |
probably benign |
Het |
Clstn1 |
A |
T |
4: 149,698,564 (GRCm39) |
D50V |
possibly damaging |
Het |
Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
Col4a4 |
T |
C |
1: 82,431,076 (GRCm39) |
M1609V |
unknown |
Het |
Dand5 |
A |
T |
8: 85,542,938 (GRCm39) |
C179* |
probably null |
Het |
Dbndd1 |
A |
G |
8: 124,233,547 (GRCm39) |
L153P |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,306,454 (GRCm39) |
I437V |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,344,223 (GRCm39) |
S1856T |
probably benign |
Het |
Dpp8 |
T |
A |
9: 64,973,700 (GRCm39) |
Y641* |
probably null |
Het |
Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,426,733 (GRCm39) |
T1077M |
probably damaging |
Het |
Eif3e |
G |
T |
15: 43,138,709 (GRCm39) |
Q83K |
probably benign |
Het |
Firrm |
A |
T |
1: 163,795,907 (GRCm39) |
M428K |
probably benign |
Het |
Gfm2 |
G |
A |
13: 97,286,910 (GRCm39) |
A170T |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
Gmip |
G |
A |
8: 70,269,693 (GRCm39) |
R596Q |
possibly damaging |
Het |
Hook1 |
A |
T |
4: 95,910,510 (GRCm39) |
Q708L |
probably damaging |
Het |
Krtap9-3 |
G |
A |
11: 99,488,526 (GRCm39) |
R119C |
unknown |
Het |
Lnpk |
A |
C |
2: 74,381,403 (GRCm39) |
|
probably null |
Het |
Lrp1 |
G |
T |
10: 127,429,334 (GRCm39) |
Y484* |
probably null |
Het |
Lrrc8e |
C |
T |
8: 4,285,185 (GRCm39) |
P470L |
probably damaging |
Het |
Mapre1 |
A |
G |
2: 153,606,960 (GRCm39) |
N231D |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,405,503 (GRCm39) |
N937K |
unknown |
Het |
Ndufaf7 |
T |
C |
17: 79,253,900 (GRCm39) |
|
probably null |
Het |
Nlrp5 |
A |
T |
7: 23,118,225 (GRCm39) |
I650F |
probably benign |
Het |
Notch1 |
T |
C |
2: 26,359,845 (GRCm39) |
D1290G |
probably benign |
Het |
Or7g27 |
C |
T |
9: 19,250,320 (GRCm39) |
A188V |
possibly damaging |
Het |
Or8b46 |
T |
C |
9: 38,450,665 (GRCm39) |
I158T |
probably damaging |
Het |
Orc4 |
C |
T |
2: 48,826,783 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
A |
G |
4: 141,357,949 (GRCm39) |
V664A |
probably benign |
Het |
Prkcsh |
T |
C |
9: 21,923,982 (GRCm39) |
Y425H |
probably damaging |
Het |
Prps1l1 |
A |
C |
12: 35,035,559 (GRCm39) |
T225P |
probably damaging |
Het |
Prr18 |
T |
G |
17: 8,560,324 (GRCm39) |
V160G |
probably damaging |
Het |
Psd2 |
T |
A |
18: 36,143,798 (GRCm39) |
F701L |
probably damaging |
Het |
Sclt1 |
T |
C |
3: 41,601,931 (GRCm39) |
E593G |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 141,948,548 (GRCm39) |
I631T |
probably benign |
Het |
Sirt1 |
A |
T |
10: 63,171,487 (GRCm39) |
D231E |
probably benign |
Het |
Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
Sntg1 |
T |
A |
1: 8,624,974 (GRCm39) |
N274I |
probably damaging |
Het |
Spocd1 |
A |
G |
4: 129,847,398 (GRCm39) |
Q529R |
|
Het |
Trarg1 |
T |
A |
11: 76,571,098 (GRCm39) |
L38Q |
probably damaging |
Het |
Trbv3 |
T |
A |
6: 41,025,530 (GRCm39) |
L40H |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,761,264 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,578,519 (GRCm39) |
Y24125H |
probably damaging |
Het |
Ush1g |
C |
A |
11: 115,209,056 (GRCm39) |
L379F |
probably damaging |
Het |
Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
Wee1 |
T |
C |
7: 109,721,917 (GRCm39) |
S121P |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,030,274 (GRCm39) |
K1222R |
probably damaging |
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 |
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 |
Z1177:Pom121l2
|
UTSW |
13 |
22,172,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCCCCAAGACCTTTTGC -3'
(R):5'- TCTGTTGCAGTGTGACAGAG -3'
Sequencing Primer
(F):5'- CCCAAGACCTTTTGCTTTTGGAGG -3'
(R):5'- TGTACCAATACAGAATGAAGGTTCC -3'
|
Posted On |
2022-06-15 |