Incidental Mutation 'R8146:Phykpl'
| ID |
632820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phykpl
|
| Ensembl Gene |
ENSMUSG00000020359 |
| Gene Name |
5-phosphohydroxy-L-lysine phospholyase |
| Synonyms |
Agxt2l2, 2900006B13Rik |
| MMRRC Submission |
067574-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.493)
|
| Stock # |
R8146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
51474751-51494091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51476408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 43
(Y43H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020625]
[ENSMUST00000101250]
[ENSMUST00000102765]
[ENSMUST00000167797]
|
| AlphaFold |
Q8R1K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020625
AA Change: Y43H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020625
Gene: ENSMUSG00000020359
AA Change: Y43H
| 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 damaging
Transcript: ENSMUST00000101250
AA Change: Y43H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098808
Gene: ENSMUSG00000020359
AA Change: Y43H
| 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: ENSMUST00000102765
|
| SMART Domains |
Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
50 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
107 |
162 |
3.7e-10 |
PFAM |
|
Pfam:Collagen
|
140 |
207 |
1.3e-9 |
PFAM |
|
low complexity region
|
212 |
237 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
239 |
299 |
1.8e-11 |
PFAM |
|
Pfam:Collagen
|
309 |
367 |
1.8e-10 |
PFAM |
|
Pfam:Collagen
|
331 |
390 |
6.6e-11 |
PFAM |
|
Pfam:Collagen
|
402 |
463 |
2.4e-11 |
PFAM |
|
Pfam:Collagen
|
455 |
523 |
3.7e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167797
AA Change: Y43H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132190
Gene: ENSMUSG00000020359
AA Change: Y43H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_3
|
33 |
373 |
1.5e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.2%
|
| 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 |
|---|
| 4921504E06Rik |
T |
G |
2: 19,498,814 (GRCm39) |
E393A |
possibly damaging |
Het |
| 4930550C14Rik |
A |
G |
9: 53,334,270 (GRCm39) |
D171G |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,347,829 (GRCm39) |
Y3561H |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,202 (GRCm39) |
V464D |
probably damaging |
Het |
| Adgrl1 |
C |
A |
8: 84,657,618 (GRCm39) |
T408N |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
| Anks6 |
C |
A |
4: 47,043,605 (GRCm39) |
A375S |
unknown |
Het |
| Bbs10 |
T |
A |
10: 111,136,396 (GRCm39) |
I503K |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,818,797 (GRCm39) |
I598T |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,076,171 (GRCm39) |
D339E |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,515,871 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,933,727 (GRCm39) |
L617P |
probably damaging |
Het |
| Cnbd2 |
T |
G |
2: 156,170,281 (GRCm39) |
V122G |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,007 (GRCm39) |
N158K |
possibly damaging |
Het |
| Cul1 |
T |
C |
6: 47,472,027 (GRCm39) |
V56A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,546,827 (GRCm39) |
I277N |
possibly damaging |
Het |
| Exoc3 |
T |
C |
13: 74,340,784 (GRCm39) |
D340G |
probably benign |
Het |
| Exoc6b |
A |
C |
6: 84,885,176 (GRCm39) |
D254E |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,862 (GRCm39) |
K268E |
probably damaging |
Het |
| Gbp8 |
T |
A |
5: 105,178,844 (GRCm39) |
N157I |
probably benign |
Het |
| Hacd1 |
T |
A |
2: 14,049,605 (GRCm39) |
S118C |
probably damaging |
Het |
| Hcn4 |
A |
C |
9: 58,731,027 (GRCm39) |
E78A |
unknown |
Het |
| Inpp5e |
T |
A |
2: 26,289,274 (GRCm39) |
T549S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,646,105 (GRCm39) |
N281S |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,552,864 (GRCm39) |
D1280G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,304 (GRCm39) |
V307A |
probably benign |
Het |
| Mafb |
A |
G |
2: 160,208,298 (GRCm39) |
L100P |
probably damaging |
Het |
| Med24 |
C |
T |
11: 98,608,940 (GRCm39) |
G119R |
probably benign |
Het |
| Mvp |
G |
T |
7: 126,586,171 (GRCm39) |
P866Q |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,510 (GRCm39) |
I94T |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,571,364 (GRCm39) |
L649R |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,361 (GRCm39) |
F293L |
probably damaging |
Het |
| Rasip1 |
T |
G |
7: 45,279,704 (GRCm39) |
S316A |
possibly damaging |
Het |
| Rlf |
G |
A |
4: 121,004,429 (GRCm39) |
S1627L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,145 (GRCm39) |
R1565G |
probably benign |
Het |
| Sart3 |
G |
A |
5: 113,886,018 (GRCm39) |
T572M |
probably damaging |
Het |
| Sec24b |
G |
T |
3: 129,789,573 (GRCm39) |
S816* |
probably null |
Het |
| Slamf1 |
C |
T |
1: 171,619,887 (GRCm39) |
P279L |
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,495,401 (GRCm39) |
V368F |
possibly damaging |
Het |
| Tap1 |
A |
T |
17: 34,408,206 (GRCm39) |
D194V |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,496 (GRCm39) |
Y319C |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,036,416 (GRCm39) |
I579N |
probably damaging |
Het |
| Zbtb22 |
G |
T |
17: 34,135,956 (GRCm39) |
V34L |
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 |
|
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 |
|
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'- TGCAAGCTTTTGTCCATCCCAG -3'
(R):5'- TGGCATGTGAACCTCTCAGG -3'
Sequencing Primer
(F):5'- TTTGTCCATCCCAGAATCAGGAAGG -3'
(R):5'- TGCCTGGTTTAGCACAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation