Incidental Mutation 'IGL01974:Ropn1l'
| ID |
181673 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ropn1l
|
| Ensembl Gene |
ENSMUSG00000022236 |
| Gene Name |
ropporin 1-like |
| Synonyms |
AKAP-associated sperm protein, ASP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01974
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
31441356-31453835 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31449255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 91
(Y91F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110408]
|
| AlphaFold |
Q9EQ00 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000091031
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110408
AA Change: Y91F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106038
Gene: ENSMUSG00000022236
AA Change: Y91F
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1r2aa_
|
13 |
49 |
7e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228386
|
| 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 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,762 (GRCm39) |
D1401G |
possibly damaging |
Het |
| Adamts2 |
G |
A |
11: 50,667,001 (GRCm39) |
G433S |
probably damaging |
Het |
| Cacna2d2 |
A |
C |
9: 107,394,621 (GRCm39) |
S598R |
probably benign |
Het |
| Cdkl3 |
A |
G |
11: 51,902,064 (GRCm39) |
Q91R |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,842 (GRCm39) |
Y313C |
probably damaging |
Het |
| Clint1 |
C |
A |
11: 45,799,862 (GRCm39) |
N558K |
probably benign |
Het |
| Dcbld1 |
A |
G |
10: 52,180,777 (GRCm39) |
H147R |
probably benign |
Het |
| Ednrb |
A |
C |
14: 104,058,254 (GRCm39) |
Y350D |
probably damaging |
Het |
| Elp2 |
C |
T |
18: 24,759,260 (GRCm39) |
P539L |
probably damaging |
Het |
| Fam217b |
G |
A |
2: 178,063,020 (GRCm39) |
R328Q |
probably damaging |
Het |
| Gm9991 |
G |
T |
1: 90,603,197 (GRCm39) |
|
noncoding transcript |
Het |
| Herc4 |
T |
G |
10: 63,135,020 (GRCm39) |
|
probably null |
Het |
| Hus1 |
T |
C |
11: 8,950,088 (GRCm39) |
N211S |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,849,842 (GRCm39) |
D454G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,103,471 (GRCm39) |
|
probably benign |
Het |
| Kank1 |
A |
T |
19: 25,387,596 (GRCm39) |
N423I |
possibly damaging |
Het |
| Kynu |
T |
A |
2: 43,571,352 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
C |
14: 103,380,647 (GRCm39) |
S3670A |
possibly damaging |
Het |
| Ndufv3 |
T |
C |
17: 31,740,583 (GRCm39) |
V30A |
probably benign |
Het |
| Or8k17 |
G |
T |
2: 86,066,304 (GRCm39) |
L292I |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,351,440 (GRCm39) |
R1022Q |
probably benign |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Sertad4 |
C |
A |
1: 192,529,274 (GRCm39) |
E181* |
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,928,105 (GRCm39) |
C502* |
probably null |
Het |
| Tnfrsf1b |
G |
A |
4: 144,942,421 (GRCm39) |
P454L |
probably damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,616,564 (GRCm39) |
R110W |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,417,642 (GRCm39) |
S500Y |
probably benign |
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 |
|
IGL02190:Ropn1l
|
APN |
15 |
31,443,487 (GRCm39) |
missense |
probably benign |
|
|
IGL02948:Ropn1l
|
APN |
15 |
31,451,325 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
P0043:Ropn1l
|
UTSW |
15 |
31,457,447 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation