Incidental Mutation 'R4371:Pom121l2'
| ID |
326005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pom121l2
|
| Ensembl Gene |
ENSMUSG00000016982 |
| Gene Name |
POM121 transmembrane nucleoporin like 2 |
| Synonyms |
LOC195236 |
| MMRRC Submission |
041117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4371 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22166409 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 227
(S227P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
| AlphaFold |
Q5SW25 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017126
AA Change: S227P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: S227P
| 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
AA Change: S227P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: S227P
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
| Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
T |
6: 3,486,988 (GRCm39) |
V123E |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
| Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,233 (GRCm39) |
S318P |
possibly damaging |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
| Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
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 |
|
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'- CGGTCTCAAGAGTGGTGAAC -3'
(R):5'- GAGAGGTGAGAATTAGGACTCTCTC -3'
Sequencing Primer
(F):5'- TCCTCCAGTGCAGGAAGG -3'
(R):5'- AGATCCTGAGAGCTCTCT -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation