Incidental Mutation 'IGL02233:Rilp'
| ID |
285797 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rilp
|
| Ensembl Gene |
ENSMUSG00000038195 |
| Gene Name |
Rab interacting lysosomal protein |
| Synonyms |
LOC333615 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75400920-75403994 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75403538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 327
(Y327H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018449]
[ENSMUST00000042808]
[ENSMUST00000042972]
[ENSMUST00000102510]
[ENSMUST00000118243]
[ENSMUST00000123819]
|
| AlphaFold |
Q5ND29 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018449
|
| SMART Domains |
Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-84 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
393 |
801 |
3.6e-226 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1079 |
7.1e-49 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1208 |
1343 |
1.9e-73 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1601 |
3.7e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1990 |
1.5e-132 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042808
|
| SMART Domains |
Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
54 |
90 |
2.16e1 |
SMART |
|
EGF
|
101 |
133 |
1.36e1 |
SMART |
|
EGF_like
|
165 |
193 |
4.55e1 |
SMART |
|
EGF_Lam
|
225 |
263 |
8.78e-2 |
SMART |
|
EGF_like
|
262 |
296 |
4.93e1 |
SMART |
|
EGF
|
307 |
341 |
2.69e1 |
SMART |
|
EGF
|
352 |
384 |
2.25e1 |
SMART |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042972
AA Change: Y327H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195
AA Change: Y327H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
24 |
N/A |
INTRINSIC |
|
Pfam:Jnk-SapK_ap_N
|
27 |
195 |
2.1e-16 |
PFAM |
|
Pfam:RILP
|
223 |
281 |
1.1e-21 |
PFAM |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102510
|
| SMART Domains |
Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRO8NT
|
58 |
209 |
1.6e-90 |
PFAM |
|
low complexity region
|
369 |
388 |
N/A |
INTRINSIC |
|
Pfam:PROCN
|
395 |
801 |
2.9e-239 |
PFAM |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
Pfam:RRM_4
|
986 |
1077 |
1.5e-51 |
PFAM |
|
Pfam:U5_2-snRNA_bdg
|
1210 |
1343 |
1.1e-77 |
PFAM |
|
Pfam:U6-snRNA_bdg
|
1442 |
1600 |
4.2e-97 |
PFAM |
|
Pfam:PRP8_domainIV
|
1760 |
1989 |
9.8e-134 |
PFAM |
|
JAB_MPN
|
2099 |
2233 |
9.02e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118243
|
| SMART Domains |
Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
54 |
90 |
2.16e1 |
SMART |
|
EGF
|
101 |
133 |
1.36e1 |
SMART |
|
EGF_like
|
165 |
193 |
4.55e1 |
SMART |
|
EGF_Lam
|
225 |
263 |
8.78e-2 |
SMART |
|
EGF_like
|
262 |
296 |
4.93e1 |
SMART |
|
EGF
|
307 |
341 |
2.69e1 |
SMART |
|
EGF
|
352 |
384 |
2.25e1 |
SMART |
|
transmembrane domain
|
424 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156923
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,165,170 (GRCm39) |
Q1581* |
probably null |
Het |
| Abcc10 |
A |
T |
17: 46,635,085 (GRCm39) |
|
probably null |
Het |
| Adam25 |
A |
G |
8: 41,208,423 (GRCm39) |
Y563C |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,522 (GRCm39) |
I200N |
possibly damaging |
Het |
| Col5a2 |
T |
C |
1: 45,422,747 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,557,666 (GRCm39) |
|
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,917,953 (GRCm39) |
V534A |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,093,746 (GRCm39) |
D845V |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,925,487 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
A |
5: 137,352,763 (GRCm39) |
Y115* |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,535,681 (GRCm39) |
Y452C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,163,530 (GRCm39) |
|
probably benign |
Het |
| Gm5134 |
A |
T |
10: 75,844,334 (GRCm39) |
|
probably null |
Het |
| Gpr157 |
A |
G |
4: 150,186,184 (GRCm39) |
T249A |
possibly damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,308 (GRCm39) |
T91A |
probably benign |
Het |
| Lin9 |
C |
A |
1: 180,516,865 (GRCm39) |
A535E |
probably damaging |
Het |
| Muc1 |
G |
A |
3: 89,138,935 (GRCm39) |
V515I |
probably benign |
Het |
| Mup3 |
A |
G |
4: 62,003,016 (GRCm39) |
I170T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,291,081 (GRCm39) |
|
probably benign |
Het |
| Or3a1d |
A |
G |
11: 74,238,254 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or8b50 |
A |
G |
9: 38,518,538 (GRCm39) |
Y259C |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 109,877,084 (GRCm39) |
S202P |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,158,185 (GRCm39) |
V676A |
probably benign |
Het |
| Rasl10a |
C |
A |
11: 5,008,333 (GRCm39) |
L10M |
probably damaging |
Het |
| Sec23ip |
A |
G |
7: 128,380,903 (GRCm39) |
S957G |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,050 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
T |
C |
6: 12,555,257 (GRCm39) |
H209R |
probably benign |
Het |
| Trav14-3 |
T |
C |
14: 54,000,643 (GRCm39) |
|
probably benign |
Het |
| Vipr2 |
A |
G |
12: 116,058,356 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Rilp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0148:Rilp
|
UTSW |
11 |
75,401,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0240:Rilp
|
UTSW |
11 |
75,401,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1964:Rilp
|
UTSW |
11 |
75,401,328 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1988:Rilp
|
UTSW |
11 |
75,401,759 (GRCm39) |
splice site |
probably null |
|
|
R4599:Rilp
|
UTSW |
11 |
75,403,586 (GRCm39) |
missense |
probably benign |
|
|
R4661:Rilp
|
UTSW |
11 |
75,402,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Rilp
|
UTSW |
11 |
75,401,467 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5134:Rilp
|
UTSW |
11 |
75,403,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5558:Rilp
|
UTSW |
11 |
75,402,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Rilp
|
UTSW |
11 |
75,403,687 (GRCm39) |
unclassified |
probably benign |
|
|
R6576:Rilp
|
UTSW |
11 |
75,403,218 (GRCm39) |
splice site |
probably null |
|
|
R6792:Rilp
|
UTSW |
11 |
75,403,601 (GRCm39) |
nonsense |
probably null |
|
|
R7016:Rilp
|
UTSW |
11 |
75,401,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7301:Rilp
|
UTSW |
11 |
75,400,942 (GRCm39) |
unclassified |
probably benign |
|
|
R7396:Rilp
|
UTSW |
11 |
75,401,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7698:Rilp
|
UTSW |
11 |
75,401,798 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation