Incidental Mutation 'R6796:Pom121l2'
| ID |
533021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pom121l2
|
| Ensembl Gene |
ENSMUSG00000016982 |
| Gene Name |
POM121 transmembrane nucleoporin like 2 |
| Synonyms |
LOC195236 |
| MMRRC Submission |
044909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6796 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
22165364-22172904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22167694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 655
(I655T)
|
| 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: I655T
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: I655T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,620,597 (GRCm39) |
V3950A |
probably damaging |
Het |
| App |
A |
G |
16: 84,917,455 (GRCm39) |
I63T |
probably damaging |
Het |
| Bpifb4 |
A |
T |
2: 153,803,467 (GRCm39) |
K381N |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,603,607 (GRCm39) |
A529T |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,446,159 (GRCm39) |
N536K |
probably damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
| E2f3 |
A |
G |
13: 30,102,568 (GRCm39) |
V231A |
possibly damaging |
Het |
| F930015N05Rik |
A |
T |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,739,830 (GRCm39) |
H47R |
possibly damaging |
Het |
| Hcar2 |
A |
G |
5: 124,003,330 (GRCm39) |
S58P |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,558 (GRCm39) |
T625A |
possibly damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,734,236 (GRCm39) |
A336V |
probably damaging |
Het |
| Lin37 |
A |
T |
7: 30,256,341 (GRCm39) |
V140E |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,874,595 (GRCm39) |
I1341K |
unknown |
Het |
| Map4k5 |
T |
C |
12: 69,864,799 (GRCm39) |
I561V |
probably benign |
Het |
| Mcc |
A |
G |
18: 44,857,627 (GRCm39) |
S163P |
probably benign |
Het |
| Nlrp12 |
T |
C |
7: 3,290,039 (GRCm39) |
T158A |
probably damaging |
Het |
| Or5an6 |
A |
T |
19: 12,372,292 (GRCm39) |
I222F |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,278 (GRCm39) |
C95R |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,331,098 (GRCm39) |
M200K |
probably benign |
Het |
| Plcd4 |
T |
C |
1: 74,601,229 (GRCm39) |
S498P |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,349,972 (GRCm39) |
Y267C |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,085,754 (GRCm39) |
R19L |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,436,380 (GRCm39) |
S61P |
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,167,398 (GRCm39) |
S1022G |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,469 (GRCm39) |
H1037R |
probably damaging |
Het |
| Rpl34 |
G |
T |
3: 130,522,926 (GRCm39) |
T6K |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,771,711 (GRCm39) |
T402A |
probably benign |
Het |
| Selenow |
A |
T |
7: 15,653,996 (GRCm39) |
V52E |
probably damaging |
Het |
| Septin14 |
T |
A |
5: 129,774,822 (GRCm39) |
I118L |
probably benign |
Het |
| Sis |
A |
T |
3: 72,872,951 (GRCm39) |
N62K |
probably benign |
Het |
| Sit1 |
A |
T |
4: 43,482,761 (GRCm39) |
C133S |
probably benign |
Het |
| Susd3 |
ACC |
AC |
13: 49,391,041 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
G |
4: 58,064,275 (GRCm39) |
V3236A |
probably benign |
Het |
| Taf12 |
G |
A |
4: 132,016,725 (GRCm39) |
V168I |
possibly damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,526 (GRCm39) |
R219S |
probably damaging |
Het |
| Tmc1 |
A |
T |
19: 20,776,400 (GRCm39) |
V653D |
probably damaging |
Het |
| Utp23 |
T |
A |
15: 51,741,007 (GRCm39) |
L30Q |
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 |
|
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'- TACGTCTGTCATTCCAGCCAG -3'
(R):5'- CTTTGGGATGGTGGCAAAAG -3'
Sequencing Primer
(F):5'- ATCCAAAGACCCTGGTGTGG -3'
(R):5'- CAAAAGTGGCTTTGGGCTTGAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation