Incidental Mutation 'R6327:Pom121l2'
| ID |
510485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pom121l2
|
| Ensembl Gene |
ENSMUSG00000016982 |
| Gene Name |
POM121 transmembrane nucleoporin like 2 |
| Synonyms |
LOC195236 |
| MMRRC Submission |
044481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6327 (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 22166502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 258
(S258P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017126]
[ENSMUST00000117882]
|
| AlphaFold |
Q5SW25 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017126
AA Change: S258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017126
Gene: ENSMUSG00000016982
AA Change: S258P
| 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 damaging
Transcript: ENSMUST00000117882
AA Change: S258P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113688
Gene: ENSMUSG00000016982
AA Change: S258P
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,535,655 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,969,774 (GRCm39) |
H383Q |
probably damaging |
Het |
| C2 |
C |
A |
17: 35,083,079 (GRCm39) |
A431S |
probably benign |
Het |
| C3ar1 |
C |
T |
6: 122,827,105 (GRCm39) |
V371M |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,127,414 (GRCm39) |
S255P |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,436,558 (GRCm39) |
I842F |
probably benign |
Het |
| Cmc2 |
G |
T |
8: 117,620,896 (GRCm39) |
H28Q |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,262,291 (GRCm39) |
P176L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,744,783 (GRCm39) |
D1404G |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,382,190 (GRCm39) |
P506S |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,672,927 (GRCm39) |
M866T |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,348,375 (GRCm39) |
I451T |
possibly damaging |
Het |
| Fosb |
T |
C |
7: 19,041,152 (GRCm39) |
T114A |
probably benign |
Het |
| Foxd4 |
T |
A |
19: 24,878,198 (GRCm39) |
M1L |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,108 (GRCm39) |
I723N |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Hdlbp |
A |
G |
1: 93,357,186 (GRCm39) |
S299P |
possibly damaging |
Het |
| Mast4 |
G |
A |
13: 102,897,890 (GRCm39) |
R650C |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,819,238 (GRCm39) |
T306A |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,755,613 (GRCm39) |
Q259R |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,325 (GRCm39) |
N31S |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,893,444 (GRCm39) |
|
probably benign |
Het |
| Nudt17 |
T |
C |
3: 96,615,080 (GRCm39) |
|
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,780,063 (GRCm39) |
I242L |
probably damaging |
Het |
| Or13a26 |
T |
C |
7: 140,284,616 (GRCm39) |
W151R |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,343,760 (GRCm39) |
V32A |
probably benign |
Het |
| Or2y1d |
A |
C |
11: 49,321,828 (GRCm39) |
H175P |
probably damaging |
Het |
| Otud6b |
A |
G |
4: 14,826,496 (GRCm39) |
|
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,519 (GRCm39) |
D606V |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,308,817 (GRCm39) |
|
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,483,403 (GRCm39) |
D196V |
possibly damaging |
Het |
| Sbf2 |
C |
T |
7: 110,040,759 (GRCm39) |
R356Q |
probably damaging |
Het |
| Serpinf1 |
A |
G |
11: 75,304,731 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
T |
G |
19: 8,313,086 (GRCm39) |
|
probably benign |
Het |
| Strn4 |
G |
T |
7: 16,550,384 (GRCm39) |
S36I |
probably benign |
Het |
| Taar6 |
A |
G |
10: 23,861,177 (GRCm39) |
L123P |
probably damaging |
Het |
| Thbs1 |
G |
T |
2: 117,943,137 (GRCm39) |
R5L |
unknown |
Het |
| Timp3 |
T |
C |
10: 86,181,650 (GRCm39) |
Y174H |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,768,061 (GRCm39) |
V813M |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,852,951 (GRCm39) |
S670T |
probably damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,651 (GRCm39) |
N194K |
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 |
|
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 |
|
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'- TGTTGAAAAGTGGGGCCAC -3'
(R):5'- GTGACAACAGGACCTTGCTG -3'
Sequencing Primer
(F):5'- CCACTGTTTCGTTTGTGGCCAG -3'
(R):5'- TATAGTTAGCAGGTCCCTAGGGCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation