Incidental Mutation 'R6611:Phykpl'
| ID |
523595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phykpl
|
| Ensembl Gene |
ENSMUSG00000020359 |
| Gene Name |
5-phosphohydroxy-L-lysine phospholyase |
| Synonyms |
Agxt2l2, 2900006B13Rik |
| MMRRC Submission |
044734-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R6611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51474751-51494091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 51489181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 336
(A336S)
|
| 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: A336S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
AA Change: A336S
| 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: A336S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
AA Change: A336S
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
| Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
| Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
| Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
| Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
| Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
| Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
| Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
| Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
| Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAAGTATGAAGGCTTTGTGG -3'
(R):5'- ACCCCAATTTACCCTGGAGG -3'
Sequencing Primer
(F):5'- TGGGTCTGTGGCCTTCCC -3'
(R):5'- AATCCTAGTTCCTTCTGGAGAATGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation