Incidental Mutation 'R9167:Pom121l2'
ID |
696139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pom121l2
|
Ensembl Gene |
ENSMUSG00000016982 |
Gene Name |
POM121 transmembrane nucleoporin like 2 |
Synonyms |
LOC195236 |
MMRRC Submission |
068946-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R9167 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 22167160 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 477
(A477V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
AlphaFold |
Q5SW25 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017126
AA Change: A477V
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000017126 Gene: ENSMUSG00000016982 AA Change: A477V
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: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
A |
11: 119,901,952 (GRCm39) |
V815F |
possibly damaging |
Het |
Abcb4 |
T |
A |
5: 8,986,849 (GRCm39) |
L756* |
probably null |
Het |
Acrbp |
T |
C |
6: 125,039,942 (GRCm39) |
L515P |
probably damaging |
Het |
Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
Atic |
T |
A |
1: 71,604,040 (GRCm39) |
I201N |
probably benign |
Het |
Avpr1b |
T |
C |
1: 131,537,151 (GRCm39) |
S312P |
probably damaging |
Het |
Cables1 |
T |
C |
18: 12,039,029 (GRCm39) |
V314A |
possibly damaging |
Het |
Cd22 |
G |
A |
7: 30,575,430 (GRCm39) |
T204I |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,828,920 (GRCm39) |
N95D |
|
Het |
Ctla4 |
C |
T |
1: 60,951,695 (GRCm39) |
R75W |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,966,623 (GRCm39) |
M649V |
probably benign |
Het |
Ddx46 |
T |
A |
13: 55,802,915 (GRCm39) |
V479E |
probably null |
Het |
Dnah7a |
T |
C |
1: 53,657,370 (GRCm39) |
N802S |
probably benign |
Het |
Fmn2 |
G |
T |
1: 174,331,056 (GRCm39) |
R482L |
unknown |
Het |
Fyn |
T |
G |
10: 39,402,811 (GRCm39) |
D194E |
probably benign |
Het |
Hdac4 |
G |
A |
1: 91,875,256 (GRCm39) |
T905M |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,411,900 (GRCm39) |
I4707V |
possibly damaging |
Het |
Hmgcs2 |
T |
C |
3: 98,204,430 (GRCm39) |
I277T |
possibly damaging |
Het |
Kcnj15 |
A |
G |
16: 95,096,741 (GRCm39) |
D121G |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,506,200 (GRCm39) |
E899G |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,542,840 (GRCm39) |
L152* |
probably null |
Het |
Krt73 |
A |
G |
15: 101,702,405 (GRCm39) |
V486A |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,347,658 (GRCm39) |
K3012N |
unknown |
Het |
Musk |
A |
T |
4: 58,296,687 (GRCm39) |
I96F |
probably benign |
Het |
Myrfl |
A |
G |
10: 116,667,450 (GRCm39) |
V330A |
probably damaging |
Het |
Nanp |
A |
T |
2: 150,872,728 (GRCm39) |
C67S |
probably benign |
Het |
Nlrp4e |
A |
G |
7: 23,039,951 (GRCm39) |
N758S |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,154,068 (GRCm39) |
V345D |
probably damaging |
Het |
Nsun7 |
G |
A |
5: 66,435,994 (GRCm39) |
V289I |
possibly damaging |
Het |
Or52d1 |
A |
G |
7: 103,756,426 (GRCm39) |
*313W |
probably null |
Het |
Pde4a |
T |
C |
9: 21,102,798 (GRCm39) |
S161P |
probably benign |
Het |
Rest |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC |
5: 77,429,651 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
T |
2: 112,664,398 (GRCm39) |
I1651N |
probably damaging |
Het |
Serpinb6e |
A |
G |
13: 34,023,009 (GRCm39) |
F125L |
possibly damaging |
Het |
Slc2a9 |
T |
A |
5: 38,549,092 (GRCm39) |
T341S |
probably damaging |
Het |
Taf3 |
A |
G |
2: 9,945,804 (GRCm39) |
V600A |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,624,724 (GRCm39) |
V1742A |
probably benign |
Het |
Tlx2 |
T |
A |
6: 83,046,042 (GRCm39) |
K211* |
probably null |
Het |
Tmem266 |
A |
G |
9: 55,322,231 (GRCm39) |
D174G |
probably damaging |
Het |
Tpm3 |
T |
A |
3: 89,994,824 (GRCm39) |
I147N |
probably benign |
Het |
Unc93a |
T |
C |
17: 13,335,108 (GRCm39) |
K313E |
possibly damaging |
Het |
Vmn1r9 |
A |
C |
6: 57,048,138 (GRCm39) |
E71A |
probably benign |
Het |
Vwa2 |
T |
A |
19: 56,899,063 (GRCm39) |
D754E |
probably benign |
Het |
Zfp677 |
T |
C |
17: 21,613,460 (GRCm39) |
V18A |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTTAGAGCACATCCAAGG -3'
(R):5'- AGGTGGGCCTTAAGATACCTG -3'
Sequencing Primer
(F):5'- TTAGAGCACATCCAAGGCATCTCTTC -3'
(R):5'- CCTTAAGATACCTGGAGTTGTAGAG -3'
|
Posted On |
2022-02-07 |