Incidental Mutation 'R6617:Phykpl'
ID |
524159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phykpl
|
Ensembl Gene |
ENSMUSG00000020359 |
Gene Name |
5-phosphohydroxy-L-lysine phospholyase |
Synonyms |
Agxt2l2, 2900006B13Rik |
MMRRC Submission |
044740-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R6617 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
51474751-51494091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51484781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 247
(E247G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132190
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020625]
[ENSMUST00000101250]
[ENSMUST00000167797]
|
AlphaFold |
Q8R1K4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020625
AA Change: E247G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020625 Gene: ENSMUSG00000020359 AA Change: E247G
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 damaging
Transcript: ENSMUST00000167797
AA Change: E247G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132190 Gene: ENSMUSG00000020359 AA Change: E247G
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
|
Meta Mutation Damage Score |
0.9589 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
T |
A |
12: 113,454,152 (GRCm39) |
I323K |
possibly damaging |
Het |
Agbl4 |
T |
A |
4: 110,437,332 (GRCm39) |
V81D |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,380,111 (GRCm39) |
D2147G |
possibly damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,489,592 (GRCm39) |
L308P |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,074,668 (GRCm39) |
L1076I |
probably benign |
Het |
Chp2 |
T |
C |
7: 121,819,917 (GRCm39) |
V59A |
probably benign |
Het |
Cped1 |
T |
A |
6: 22,215,546 (GRCm39) |
C555* |
probably null |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Crispld1 |
G |
A |
1: 17,798,886 (GRCm39) |
M2I |
probably benign |
Het |
Cul3 |
T |
C |
1: 80,254,156 (GRCm39) |
N540S |
probably damaging |
Het |
Dll4 |
A |
G |
2: 119,158,412 (GRCm39) |
T134A |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,186,931 (GRCm39) |
T1305I |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,280,731 (GRCm39) |
|
probably null |
Het |
Gm9195 |
A |
T |
14: 72,669,215 (GRCm39) |
L2649H |
probably damaging |
Het |
Gprc5c |
A |
G |
11: 114,754,931 (GRCm39) |
I203V |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,619,547 (GRCm39) |
D1189G |
probably benign |
Het |
Hnrnpl |
C |
A |
7: 28,518,009 (GRCm39) |
|
probably benign |
Het |
Homer1 |
T |
A |
13: 93,478,370 (GRCm39) |
Y38N |
probably damaging |
Het |
Itgb5 |
A |
G |
16: 33,766,962 (GRCm39) |
T707A |
probably benign |
Het |
Lmbrd1 |
G |
A |
1: 24,724,509 (GRCm39) |
R31Q |
probably damaging |
Het |
Mbtps1 |
G |
A |
8: 120,264,876 (GRCm39) |
P341S |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,580,512 (GRCm39) |
|
probably null |
Het |
Myh13 |
A |
T |
11: 67,252,226 (GRCm39) |
T1445S |
probably benign |
Het |
Ncapg |
C |
T |
5: 45,827,474 (GRCm39) |
A37V |
probably benign |
Het |
Neb |
A |
G |
2: 52,097,759 (GRCm39) |
F4909L |
probably damaging |
Het |
Nrcam |
T |
A |
12: 44,587,746 (GRCm39) |
W141R |
probably damaging |
Het |
Or6k4 |
T |
G |
1: 173,964,814 (GRCm39) |
F168C |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,873,715 (GRCm39) |
I333M |
possibly damaging |
Het |
Sorcs2 |
A |
G |
5: 36,235,310 (GRCm39) |
F69L |
probably damaging |
Het |
Sspo |
C |
A |
6: 48,467,980 (GRCm39) |
T349K |
possibly damaging |
Het |
Stap2 |
A |
G |
17: 56,306,746 (GRCm39) |
S276P |
probably benign |
Het |
Tle1 |
A |
G |
4: 72,059,517 (GRCm39) |
S275P |
probably damaging |
Het |
Topors |
G |
A |
4: 40,261,896 (GRCm39) |
Q463* |
probably null |
Het |
Tsc1 |
A |
G |
2: 28,577,001 (GRCm39) |
D1101G |
possibly damaging |
Het |
Tyrp1 |
G |
A |
4: 80,764,984 (GRCm39) |
A54T |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,919,711 (GRCm39) |
V185A |
possibly damaging |
Het |
Vmn2r19 |
T |
A |
6: 123,313,494 (GRCm39) |
*855R |
probably null |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGCCTGCCAGAAATTTC -3'
(R):5'- TAGTAGAGCCCTGTCCTGCAAC -3'
Sequencing Primer
(F):5'- AATTTCTGAAACAAAACCCGTAAAG -3'
(R):5'- GCAACTTTACTCACCGTGTTGAAG -3'
|
Posted On |
2018-06-22 |