Incidental Mutation 'P0043:Ropn1l'
ID |
7675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ropn1l
|
Ensembl Gene |
ENSMUSG00000022236 |
Gene Name |
ropporin 1-like |
Synonyms |
AKAP-associated sperm protein, ASP |
MMRRC Submission |
038291-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
P0043 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
31441356-31453835 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to C
at 31457447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106038
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090227]
[ENSMUST00000110408]
|
AlphaFold |
Q9EQ00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090227
|
SMART Domains |
Protein: ENSMUSP00000087694 Gene: ENSMUSG00000039100
Domain | Start | End | E-Value | Type |
RINGv
|
8 |
56 |
1.13e-21 |
SMART |
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
low complexity region
|
223 |
259 |
N/A |
INTRINSIC |
transmembrane domain
|
290 |
312 |
N/A |
INTRINSIC |
transmembrane domain
|
332 |
354 |
N/A |
INTRINSIC |
transmembrane domain
|
367 |
389 |
N/A |
INTRINSIC |
transmembrane domain
|
420 |
442 |
N/A |
INTRINSIC |
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
transmembrane domain
|
522 |
540 |
N/A |
INTRINSIC |
low complexity region
|
574 |
599 |
N/A |
INTRINSIC |
transmembrane domain
|
633 |
655 |
N/A |
INTRINSIC |
transmembrane domain
|
675 |
697 |
N/A |
INTRINSIC |
transmembrane domain
|
720 |
742 |
N/A |
INTRINSIC |
transmembrane domain
|
762 |
784 |
N/A |
INTRINSIC |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
transmembrane domain
|
847 |
866 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110408
|
SMART Domains |
Protein: ENSMUSP00000106038 Gene: ENSMUSG00000022236
Domain | Start | End | E-Value | Type |
SCOP:d1r2aa_
|
13 |
49 |
7e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228386
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 81.5%
- 3x: 74.1%
- 10x: 50.1%
- 20x: 26.7%
|
Validation Efficiency |
74% (145/195) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2014] PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced respiratory motile cilia motility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Chn1 |
A |
T |
2: 73,454,509 (GRCm39) |
V247E |
probably damaging |
Het |
Col28a1 |
T |
A |
6: 8,168,152 (GRCm39) |
|
probably benign |
Het |
Cxcl5 |
A |
G |
5: 90,907,826 (GRCm39) |
I85M |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,394,051 (GRCm39) |
E829G |
probably benign |
Het |
Kctd18 |
G |
A |
1: 58,006,722 (GRCm39) |
R43C |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,058,155 (GRCm39) |
F629I |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,328,620 (GRCm39) |
S195P |
probably damaging |
Het |
Lrrc74b |
A |
T |
16: 17,376,023 (GRCm39) |
|
probably benign |
Het |
Mrpl30 |
A |
G |
1: 37,937,259 (GRCm39) |
T133A |
probably benign |
Het |
Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
Per1 |
G |
T |
11: 68,992,869 (GRCm39) |
|
probably benign |
Het |
Ptprq |
C |
A |
10: 107,416,086 (GRCm39) |
M1737I |
probably benign |
Het |
Sfrp4 |
A |
G |
13: 19,807,765 (GRCm39) |
I55V |
probably benign |
Het |
Spata31 |
G |
A |
13: 65,068,820 (GRCm39) |
|
probably null |
Het |
Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,628,358 (GRCm39) |
S12855P |
probably damaging |
Het |
Zscan10 |
C |
T |
17: 23,828,594 (GRCm39) |
R302* |
probably null |
Het |
|
Other mutations in Ropn1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00341:Ropn1l
|
APN |
15 |
31,443,495 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01974:Ropn1l
|
APN |
15 |
31,449,255 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02190:Ropn1l
|
APN |
15 |
31,443,487 (GRCm39) |
missense |
probably benign |
|
IGL02948:Ropn1l
|
APN |
15 |
31,451,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0554:Ropn1l
|
UTSW |
15 |
31,451,295 (GRCm39) |
missense |
probably benign |
0.00 |
R7166:Ropn1l
|
UTSW |
15 |
31,453,655 (GRCm39) |
missense |
|
|
R7330:Ropn1l
|
UTSW |
15 |
31,451,349 (GRCm39) |
missense |
|
|
R9209:Ropn1l
|
UTSW |
15 |
31,441,471 (GRCm39) |
missense |
|
|
R9784:Ropn1l
|
UTSW |
15 |
31,453,649 (GRCm39) |
missense |
|
|
|
Posted On |
2012-10-29 |