Incidental Mutation 'IGL00537:Pkhd1l1'
ID |
332554 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pkhd1l1
|
Ensembl Gene |
ENSMUSG00000038725 |
Gene Name |
polycystic kidney and hepatic disease 1-like 1 |
Synonyms |
PKHDL1, D86 mRNA, fibrocystin L |
Accession Numbers |
Genbank: NM_138674; MGI: 2183153 |
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00537
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
44457494-44601369 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44500047 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 621
(T621M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038336]
[ENSMUST00000166957]
[ENSMUST00000209244]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038336
AA Change: T621M
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036988 Gene: ENSMUSG00000038725 AA Change: T621M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IPT
|
30 |
141 |
9.02e-3 |
SMART |
Pfam:TIG
|
146 |
255 |
1.6e-16 |
PFAM |
IPT
|
269 |
362 |
2.27e-8 |
SMART |
PbH1
|
398 |
420 |
2.98e3 |
SMART |
IPT
|
1066 |
1154 |
5.34e-5 |
SMART |
IPT
|
1156 |
1235 |
1.44e-1 |
SMART |
Pfam:TIG
|
1240 |
1322 |
1.1e-13 |
PFAM |
IPT
|
1328 |
1407 |
7.06e0 |
SMART |
Pfam:TIG
|
1565 |
1645 |
5.1e-11 |
PFAM |
IPT
|
1657 |
1743 |
1.89e-5 |
SMART |
Pfam:TIG
|
1748 |
1828 |
2.1e-10 |
PFAM |
IPT
|
1829 |
1910 |
4.87e-8 |
SMART |
IPT
|
1914 |
1997 |
6.84e-3 |
SMART |
IPT
|
1998 |
2085 |
9.86e-1 |
SMART |
IPT
|
2089 |
2176 |
7.21e-11 |
SMART |
PbH1
|
2105 |
2126 |
1.56e3 |
SMART |
G8
|
2183 |
2303 |
2.37e-59 |
SMART |
PbH1
|
2484 |
2506 |
9.48e3 |
SMART |
PbH1
|
2507 |
2529 |
8.45e2 |
SMART |
PbH1
|
2565 |
2587 |
4.11e3 |
SMART |
PbH1
|
2664 |
2686 |
3.5e3 |
SMART |
PbH1
|
2732 |
2755 |
2.7e3 |
SMART |
Blast:G8
|
2949 |
2979 |
1e-5 |
BLAST |
low complexity region
|
3014 |
3025 |
N/A |
INTRINSIC |
G8
|
3035 |
3173 |
6.5e-57 |
SMART |
PbH1
|
3292 |
3314 |
1.96e3 |
SMART |
PbH1
|
3354 |
3376 |
3.79e1 |
SMART |
PbH1
|
3415 |
3437 |
4.87e2 |
SMART |
PbH1
|
3470 |
3492 |
8.34e3 |
SMART |
PbH1
|
3493 |
3514 |
5.86e3 |
SMART |
low complexity region
|
3563 |
3574 |
N/A |
INTRINSIC |
low complexity region
|
4076 |
4103 |
N/A |
INTRINSIC |
low complexity region
|
4184 |
4212 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166957
AA Change: T621M
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000129522 Gene: ENSMUSG00000038725 AA Change: T621M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
IPT
|
30 |
141 |
9.02e-3 |
SMART |
Pfam:TIG
|
146 |
255 |
9.4e-18 |
PFAM |
IPT
|
269 |
362 |
2.27e-8 |
SMART |
PbH1
|
398 |
420 |
2.98e3 |
SMART |
IPT
|
1066 |
1154 |
5.34e-5 |
SMART |
IPT
|
1156 |
1235 |
1.44e-1 |
SMART |
Pfam:TIG
|
1240 |
1323 |
3e-13 |
PFAM |
IPT
|
1328 |
1407 |
7.06e0 |
SMART |
Pfam:TIG
|
1565 |
1645 |
3.7e-11 |
PFAM |
IPT
|
1657 |
1743 |
1.89e-5 |
SMART |
Pfam:TIG
|
1748 |
1828 |
9.7e-12 |
PFAM |
IPT
|
1829 |
1910 |
4.87e-8 |
SMART |
IPT
|
1914 |
1997 |
6.84e-3 |
SMART |
IPT
|
1998 |
2085 |
9.86e-1 |
SMART |
IPT
|
2089 |
2176 |
7.21e-11 |
SMART |
PbH1
|
2105 |
2126 |
1.56e3 |
SMART |
G8
|
2183 |
2303 |
2.37e-59 |
SMART |
PbH1
|
2484 |
2506 |
9.48e3 |
SMART |
PbH1
|
2507 |
2529 |
8.45e2 |
SMART |
PbH1
|
2565 |
2587 |
4.11e3 |
SMART |
PbH1
|
2664 |
2686 |
3.5e3 |
SMART |
PbH1
|
2732 |
2755 |
2.7e3 |
SMART |
Blast:G8
|
2949 |
2979 |
1e-5 |
BLAST |
low complexity region
|
3014 |
3025 |
N/A |
INTRINSIC |
G8
|
3035 |
3173 |
6.5e-57 |
SMART |
PbH1
|
3292 |
3314 |
1.96e3 |
SMART |
PbH1
|
3354 |
3376 |
3.79e1 |
SMART |
PbH1
|
3415 |
3437 |
4.87e2 |
SMART |
PbH1
|
3470 |
3492 |
8.34e3 |
SMART |
PbH1
|
3493 |
3514 |
5.86e3 |
SMART |
low complexity region
|
3563 |
3574 |
N/A |
INTRINSIC |
low complexity region
|
4076 |
4103 |
N/A |
INTRINSIC |
low complexity region
|
4184 |
4212 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209244
AA Change: T621M
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcap29 |
C |
A |
12: 31,617,096 |
E189* |
probably null |
Het |
Chd5 |
T |
C |
4: 152,360,602 |
Y347H |
probably damaging |
Het |
Cyp2c55 |
T |
A |
19: 39,011,706 |
N116K |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,458,702 |
|
probably null |
Het |
Erlec1 |
C |
A |
11: 30,939,591 |
V185L |
probably benign |
Het |
Glb1l3 |
T |
A |
9: 26,829,050 |
Y328F |
probably damaging |
Het |
Gnao1 |
G |
A |
8: 93,811,680 |
V50M |
probably damaging |
Het |
Mcpt4 |
T |
C |
14: 56,061,030 |
T83A |
probably benign |
Het |
Mefv |
T |
C |
16: 3,710,960 |
Y539C |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,710,522 |
S304P |
probably benign |
Het |
Rptor |
C |
T |
11: 119,799,445 |
P372L |
possibly damaging |
Het |
Soat1 |
A |
T |
1: 156,466,730 |
N13K |
probably benign |
Het |
Sspo |
G |
A |
6: 48,498,213 |
|
probably benign |
Het |
Vps13a |
T |
A |
19: 16,680,045 |
T1787S |
probably benign |
Het |
Wfdc12 |
A |
T |
2: 164,190,467 |
L18Q |
probably null |
Het |
Zfp955b |
T |
C |
17: 33,302,873 |
F439L |
probably damaging |
Het |
Zmym4 |
G |
A |
4: 126,890,058 |
S1125L |
probably benign |
Het |
|
Other mutations in Pkhd1l1 |
|
Posted On |
2015-08-05 |