Incidental Mutation 'R4593:Pom121l2'
ID |
344230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pom121l2
|
Ensembl Gene |
ENSMUSG00000016982 |
Gene Name |
POM121 transmembrane nucleoporin like 2 |
Synonyms |
LOC195236 |
MMRRC Submission |
041809-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4593 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 22168623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 965
(R965W)
|
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: R965W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000017126 Gene: ENSMUSG00000016982 AA Change: R965W
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAAAGATCATGTCTGGGGC -3'
(R):5'- CCAGCACTTGATGACGTACTG -3'
Sequencing Primer
(F):5'- TGGTCCCCTTTGCTCAGAG -3'
(R):5'- CACTTGATGACGTACTGGTGGTTTAC -3'
|
Posted On |
2015-09-25 |