Incidental Mutation 'IGL02636:Phykpl'
ID |
301521 |
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 # |
IGL02636
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
51474751-51494091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 51489540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 382
(T382I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020625]
[ENSMUST00000074669]
[ENSMUST00000101249]
[ENSMUST00000101250]
[ENSMUST00000109103]
[ENSMUST00000167797]
|
AlphaFold |
Q8R1K4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020625
AA Change: T382I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020625 Gene: ENSMUSG00000020359 AA Change: T382I
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 damaging
Transcript: ENSMUST00000167797
AA Change: T382I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132190 Gene: ENSMUSG00000020359 AA Change: T382I
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169823
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
C |
A |
6: 85,605,636 (GRCm39) |
Q1960K |
probably benign |
Het |
Arhgef40 |
T |
A |
14: 52,234,865 (GRCm39) |
V1056E |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,091,755 (GRCm39) |
F105I |
probably damaging |
Het |
Cep162 |
A |
T |
9: 87,130,432 (GRCm39) |
D59E |
possibly damaging |
Het |
Cngb3 |
A |
T |
4: 19,396,690 (GRCm39) |
T348S |
probably damaging |
Het |
Eci3 |
A |
T |
13: 35,130,963 (GRCm39) |
|
probably null |
Het |
Gapvd1 |
A |
G |
2: 34,615,416 (GRCm39) |
I409T |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,186,735 (GRCm39) |
|
probably null |
Het |
Hoxd3 |
G |
A |
2: 74,577,298 (GRCm39) |
A393T |
probably benign |
Het |
Htr5a |
T |
C |
5: 28,047,658 (GRCm39) |
F71S |
probably damaging |
Het |
Hyou1 |
T |
C |
9: 44,292,707 (GRCm39) |
|
probably null |
Het |
Igsf6 |
C |
A |
7: 120,666,503 (GRCm39) |
|
probably benign |
Het |
Klrb1c |
C |
A |
6: 128,765,515 (GRCm39) |
C25F |
probably benign |
Het |
Lrguk |
C |
A |
6: 34,067,123 (GRCm39) |
T483K |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,060,532 (GRCm39) |
|
probably benign |
Het |
Lrrk1 |
A |
T |
7: 65,958,407 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,057,857 (GRCm39) |
G2098D |
probably damaging |
Het |
Nfkbia |
T |
C |
12: 55,537,958 (GRCm39) |
Q165R |
possibly damaging |
Het |
Nipsnap2 |
A |
G |
5: 129,822,354 (GRCm39) |
|
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,240,977 (GRCm39) |
D206G |
possibly damaging |
Het |
Rab26 |
T |
C |
17: 24,752,533 (GRCm39) |
S9G |
probably benign |
Het |
Sema3e |
C |
A |
5: 14,275,670 (GRCm39) |
N258K |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,920,971 (GRCm39) |
|
noncoding transcript |
Het |
Tgm5 |
A |
T |
2: 120,907,277 (GRCm39) |
C149S |
probably damaging |
Het |
Timp4 |
C |
T |
6: 115,226,785 (GRCm39) |
|
probably null |
Het |
Traf7 |
T |
C |
17: 24,731,964 (GRCm39) |
K251E |
probably benign |
Het |
Ugcg |
G |
T |
4: 59,207,763 (GRCm39) |
R34L |
possibly damaging |
Het |
Unc13d |
T |
C |
11: 115,964,444 (GRCm39) |
H300R |
probably damaging |
Het |
Vmn1r20 |
G |
T |
6: 57,408,746 (GRCm39) |
C24F |
probably benign |
Het |
Vmn2r13 |
T |
C |
5: 109,339,883 (GRCm39) |
R31G |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,113,002 (GRCm39) |
T87A |
possibly damaging |
Het |
Zfp353-ps |
T |
A |
8: 42,535,477 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL01809:Phykpl
|
APN |
11 |
51,490,351 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
2015-04-16 |