Incidental Mutation 'IGL02668:Phykpl'
| ID |
302832 |
| 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 essential
(E-score: 0.569)
|
| Stock # |
IGL02668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
51474751-51494091 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 51484514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020625]
[ENSMUST00000101250]
[ENSMUST00000167797]
|
| AlphaFold |
Q8R1K4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020625
|
| SMART Domains |
Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000109105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156128
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167797
|
| SMART Domains |
Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
| 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: 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
A |
G |
14: 35,532,074 (GRCm39) |
M167T |
probably benign |
Het |
| Abcc4 |
G |
T |
14: 118,848,887 (GRCm39) |
S488R |
probably damaging |
Het |
| Adprm |
G |
T |
11: 66,931,073 (GRCm39) |
D230E |
possibly damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bltp3a |
A |
C |
17: 28,105,549 (GRCm39) |
I692L |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,219,298 (GRCm39) |
K309E |
possibly damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,371 (GRCm39) |
A127T |
probably benign |
Het |
| Dctn1 |
T |
A |
6: 83,168,030 (GRCm39) |
M357K |
possibly damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,806 (GRCm39) |
N167S |
probably benign |
Het |
| Dmgdh |
T |
G |
13: 93,840,418 (GRCm39) |
V283G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,324,229 (GRCm39) |
W1052R |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,098,806 (GRCm39) |
V2083D |
possibly damaging |
Het |
| Dnai7 |
G |
T |
6: 145,150,983 (GRCm39) |
R30S |
unknown |
Het |
| Exoc4 |
T |
G |
6: 33,898,467 (GRCm39) |
F895L |
probably benign |
Het |
| Fsip1 |
G |
T |
2: 118,082,206 (GRCm39) |
A76E |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,828,662 (GRCm39) |
I6820V |
probably benign |
Het |
| Hdac10 |
G |
A |
15: 89,009,847 (GRCm39) |
P395L |
probably benign |
Het |
| Ing3 |
A |
G |
6: 21,950,058 (GRCm39) |
D17G |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,454,840 (GRCm39) |
F1383L |
possibly damaging |
Het |
| Myct1 |
C |
A |
10: 5,554,513 (GRCm39) |
P127T |
probably damaging |
Het |
| Or52s1 |
A |
T |
7: 102,861,942 (GRCm39) |
I281F |
possibly damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,958,031 (GRCm39) |
A625S |
possibly damaging |
Het |
| Padi2 |
C |
T |
4: 140,677,191 (GRCm39) |
R660C |
probably benign |
Het |
| Paip1 |
A |
T |
13: 119,574,607 (GRCm39) |
I185F |
probably damaging |
Het |
| Pals2 |
C |
T |
6: 50,171,509 (GRCm39) |
T386I |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,349,766 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,334,251 (GRCm39) |
L126* |
probably null |
Het |
| Rchy1 |
A |
T |
5: 92,110,577 (GRCm39) |
M1K |
probably null |
Het |
| Rfx3 |
T |
C |
19: 27,793,014 (GRCm39) |
|
probably benign |
Het |
| Sdr9c7 |
T |
C |
10: 127,738,267 (GRCm39) |
F182L |
probably damaging |
Het |
| Sgpl1 |
A |
C |
10: 60,941,229 (GRCm39) |
V294G |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,071,646 (GRCm39) |
S180P |
possibly damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,303,125 (GRCm39) |
D488G |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,682,027 (GRCm39) |
|
probably benign |
Het |
| Sycp1 |
A |
C |
3: 102,727,847 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,925,081 (GRCm39) |
K347E |
possibly damaging |
Het |
| Tnk1 |
A |
G |
11: 69,747,749 (GRCm39) |
M51T |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
| Ubd |
G |
T |
17: 37,506,420 (GRCm39) |
R102L |
probably benign |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,389 (GRCm39) |
A394S |
probably benign |
Het |
| Zfp324 |
T |
A |
7: 12,704,773 (GRCm39) |
C321S |
probably damaging |
Het |
| Zfp488 |
G |
T |
14: 33,692,777 (GRCm39) |
Q129K |
probably benign |
Het |
| Zmpste24 |
T |
A |
4: 120,918,297 (GRCm39) |
N442Y |
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 |
|
|
IGL01809:Phykpl
|
APN |
11 |
51,490,351 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02636:Phykpl
|
APN |
11 |
51,489,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation