Incidental Mutation 'R1603:Pom121l2'
| ID |
176274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pom121l2
|
| Ensembl Gene |
ENSMUSG00000016982 |
| Gene Name |
POM121 transmembrane nucleoporin like 2 |
| Synonyms |
LOC195236 |
| MMRRC Submission |
039640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1603 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22167514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 595
(D595V)
|
| 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: D595V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: D595V
| 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 |
0.3804 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
| Ace |
T |
A |
11: 105,862,925 (GRCm39) |
S315R |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,333,767 (GRCm39) |
I1491V |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,579 (GRCm39) |
M82K |
probably damaging |
Het |
| Aebp2 |
A |
G |
6: 140,587,979 (GRCm39) |
N350D |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,268,899 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
A |
T |
15: 64,001,106 (GRCm39) |
C492S |
probably damaging |
Het |
| Atp8b3 |
C |
A |
10: 80,361,619 (GRCm39) |
A768S |
probably benign |
Het |
| Chga |
T |
A |
12: 102,530,866 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,627,780 (GRCm39) |
V397A |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,339,831 (GRCm39) |
T697P |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,520,244 (GRCm39) |
Q2810R |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,411,977 (GRCm39) |
R1380S |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,388,909 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
G |
A |
4: 127,089,021 (GRCm39) |
G206R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,131 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,449,326 (GRCm39) |
I4243L |
probably benign |
Het |
| Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,915 (GRCm39) |
P452H |
probably benign |
Het |
| Fgl1 |
T |
A |
8: 41,650,055 (GRCm39) |
D242V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,567,823 (GRCm39) |
G794R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,864 (GRCm39) |
D150V |
probably damaging |
Het |
| Gm5334 |
T |
C |
7: 68,268,620 (GRCm39) |
V13A |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,057,800 (GRCm39) |
F167L |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,751,472 (GRCm39) |
L1538P |
probably benign |
Het |
| Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,858 (GRCm39) |
|
probably null |
Het |
| Kras |
A |
T |
6: 145,170,871 (GRCm39) |
L168* |
probably null |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,195,582 (GRCm39) |
D377G |
possibly damaging |
Het |
| Matn2 |
T |
C |
15: 34,388,914 (GRCm39) |
C335R |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,885,977 (GRCm39) |
S276F |
probably damaging |
Het |
| Morc3 |
C |
A |
16: 93,663,391 (GRCm39) |
N531K |
probably benign |
Het |
| Obp2a |
G |
A |
2: 25,592,757 (GRCm39) |
S175N |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,286 (GRCm39) |
V253A |
probably benign |
Het |
| Or4n4b |
T |
G |
14: 50,536,491 (GRCm39) |
I92L |
possibly damaging |
Het |
| Or5an1b |
A |
T |
19: 12,299,348 (GRCm39) |
V281E |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,300,073 (GRCm39) |
K510N |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,566,365 (GRCm39) |
S1026F |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Rbl1 |
G |
A |
2: 157,017,579 (GRCm39) |
L547F |
possibly damaging |
Het |
| Rpap3 |
T |
C |
15: 97,599,002 (GRCm39) |
T82A |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,959 (GRCm39) |
D512N |
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,941,230 (GRCm39) |
V294M |
possibly damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,040,674 (GRCm39) |
S526P |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,650 (GRCm39) |
R177W |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,312,073 (GRCm39) |
A209V |
probably benign |
Het |
| Trim30b |
T |
G |
7: 104,015,019 (GRCm39) |
Q123P |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,638,946 (GRCm39) |
L275P |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,219,275 (GRCm39) |
E71G |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,481 (GRCm39) |
T288A |
possibly damaging |
Het |
| Unc93a |
T |
A |
17: 13,328,521 (GRCm39) |
E444V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,535 (GRCm39) |
M1005K |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,405 (GRCm39) |
I230T |
probably benign |
Het |
| Wdr49 |
G |
A |
3: 75,304,177 (GRCm39) |
Q448* |
probably null |
Het |
| Zfp939 |
T |
A |
7: 39,122,695 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAAGGCCCACCTTCAAGCCTATC -3'
(R):5'- AAGTTGCCAGAGGGTTGCTCAC -3'
Sequencing Primer
(F):5'- TCTTTGGCAGTATAGAACCGC -3'
(R):5'- CTTGATGGCACTAGTAAGAACCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation