Incidental Mutation 'IGL01809:Phykpl'
| ID |
155763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phykpl
|
| Ensembl Gene |
ENSMUSG00000020359 |
| Gene Name |
5-phosphohydroxy-L-lysine phospholyase |
| Synonyms |
Agxt2l2, 2900006B13Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
IGL01809
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
51474751-51494091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51490351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 411
(F411L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020625]
[ENSMUST00000074669]
[ENSMUST00000101249]
[ENSMUST00000101250]
[ENSMUST00000109103]
[ENSMUST00000167797]
|
| AlphaFold |
Q8R1K4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020625
AA Change: F411L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
AA Change: F411L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
27 |
433 |
2.1e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074669
|
| SMART Domains |
Protein: ENSMUSP00000074238
Gene: ENSMUSG00000020358
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
55 |
N/A |
INTRINSIC |
|
RRM
|
76 |
148 |
3.59e-25 |
SMART |
|
RRM
|
160 |
232 |
5.79e-20 |
SMART |
|
low complexity region
|
240 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101249
|
| SMART Domains |
Protein: ENSMUSP00000098807
Gene: ENSMUSG00000020358
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
55 |
N/A |
INTRINSIC |
|
RRM
|
76 |
148 |
3.59e-25 |
SMART |
|
RRM
|
160 |
232 |
5.79e-20 |
SMART |
|
low complexity region
|
240 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101250
|
| SMART Domains |
Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
33 |
212 |
8.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109103
|
| SMART Domains |
Protein: ENSMUSP00000104731
Gene: ENSMUSG00000020358
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBFNT
|
1 |
75 |
5.7e-23 |
PFAM |
|
RRM
|
76 |
148 |
3.59e-25 |
SMART |
|
RRM
|
160 |
232 |
5.79e-20 |
SMART |
|
low complexity region
|
240 |
313 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167797
AA Change: F411L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
AA Change: F411L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
33 |
373 |
1.5e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169995
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene overlaps in a tail-to-tail orientation the gene encoding heterogeneous nuclear ribonucleoprotein A/B. The terminal exon of this gene is interspersed with exons of heterogeneous nuclear ribonucleoprotein A/B. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,339 (GRCm39) |
N734I |
probably damaging |
Het |
| Abi1 |
T |
C |
2: 22,836,729 (GRCm39) |
I371V |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,355,845 (GRCm39) |
F1289S |
probably benign |
Het |
| Brca2 |
T |
A |
5: 150,454,526 (GRCm39) |
|
probably null |
Het |
| C8a |
A |
T |
4: 104,703,139 (GRCm39) |
I306N |
probably benign |
Het |
| Crybg3 |
G |
T |
16: 59,345,216 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,617,745 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
G |
1: 191,280,415 (GRCm39) |
F373S |
probably damaging |
Het |
| Dynlt1a |
G |
A |
17: 6,361,147 (GRCm39) |
|
probably null |
Het |
| Dyrk1a |
G |
A |
16: 94,460,476 (GRCm39) |
R44H |
probably benign |
Het |
| Fam114a2 |
C |
T |
11: 57,404,461 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,808,691 (GRCm39) |
E1670G |
possibly damaging |
Het |
| Gbp10 |
A |
T |
5: 105,365,225 (GRCm39) |
N594K |
probably benign |
Het |
| Gpam |
T |
A |
19: 55,064,057 (GRCm39) |
K679* |
probably null |
Het |
| Gtf2i |
A |
T |
5: 134,278,804 (GRCm39) |
V524E |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,129,079 (GRCm39) |
E2011D |
probably damaging |
Het |
| Jag1 |
C |
A |
2: 136,957,404 (GRCm39) |
G103W |
probably damaging |
Het |
| Klkb1 |
A |
T |
8: 45,729,090 (GRCm39) |
V378E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,388 (GRCm39) |
S933R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,971,860 (GRCm39) |
S619G |
probably benign |
Het |
| Mex3b |
T |
C |
7: 82,518,920 (GRCm39) |
S412P |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,235,191 (GRCm39) |
I36V |
probably benign |
Het |
| Nckipsd |
T |
C |
9: 108,694,753 (GRCm39) |
Y652H |
probably damaging |
Het |
| Or5ak24 |
A |
G |
2: 85,260,498 (GRCm39) |
L225P |
probably damaging |
Het |
| Or5w13 |
T |
C |
2: 87,524,089 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,591 (GRCm39) |
I92T |
probably damaging |
Het |
| Or8g53 |
A |
T |
9: 39,683,990 (GRCm39) |
Y35* |
probably null |
Het |
| Rbm8a |
T |
A |
3: 96,538,853 (GRCm39) |
F101I |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,677,257 (GRCm39) |
G402W |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,070 (GRCm39) |
R254* |
probably null |
Het |
| Rsph14 |
G |
A |
10: 74,793,618 (GRCm39) |
|
probably benign |
Het |
| Stau2 |
A |
T |
1: 16,510,539 (GRCm39) |
|
probably null |
Het |
| Tmprss11c |
G |
A |
5: 86,385,521 (GRCm39) |
S304L |
possibly damaging |
Het |
| Vipr1 |
T |
G |
9: 121,490,506 (GRCm39) |
M184R |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,364,152 (GRCm39) |
R752C |
probably damaging |
Het |
|
| Other mutations in Phykpl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01336:Phykpl
|
APN |
11 |
51,490,283 (GRCm39) |
splice site |
probably benign |
|
|
IGL02636:Phykpl
|
APN |
11 |
51,489,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Phykpl
|
APN |
11 |
51,484,514 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0114:Phykpl
|
UTSW |
11 |
51,477,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0308:Phykpl
|
UTSW |
11 |
51,484,423 (GRCm39) |
splice site |
probably benign |
|
|
R0332:Phykpl
|
UTSW |
11 |
51,477,502 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0831:Phykpl
|
UTSW |
11 |
51,476,366 (GRCm39) |
nonsense |
probably null |
|
|
R3434:Phykpl
|
UTSW |
11 |
51,489,482 (GRCm39) |
missense |
probably benign |
|
|
R4272:Phykpl
|
UTSW |
11 |
51,476,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4539:Phykpl
|
UTSW |
11 |
51,484,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Phykpl
|
UTSW |
11 |
51,483,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4633:Phykpl
|
UTSW |
11 |
51,484,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Phykpl
|
UTSW |
11 |
51,483,780 (GRCm39) |
missense |
probably benign |
|
|
R4823:Phykpl
|
UTSW |
11 |
51,477,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5415:Phykpl
|
UTSW |
11 |
51,476,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5920:Phykpl
|
UTSW |
11 |
51,493,622 (GRCm39) |
missense |
probably benign |
|
|
R6370:Phykpl
|
UTSW |
11 |
51,477,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Phykpl
|
UTSW |
11 |
51,489,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Phykpl
|
UTSW |
11 |
51,484,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Phykpl
|
UTSW |
11 |
51,489,530 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7340:Phykpl
|
UTSW |
11 |
51,490,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Phykpl
|
UTSW |
11 |
51,482,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7947:Phykpl
|
UTSW |
11 |
51,477,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8146:Phykpl
|
UTSW |
11 |
51,476,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Phykpl
|
UTSW |
11 |
51,489,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Phykpl
|
UTSW |
11 |
51,489,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Phykpl
|
UTSW |
11 |
51,483,741 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9157:Phykpl
|
UTSW |
11 |
51,490,375 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9295:Phykpl
|
UTSW |
11 |
51,482,231 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9794:Phykpl
|
UTSW |
11 |
51,489,212 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation