Incidental Mutation 'IGL02649:Rimbp3'
ID |
302065 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rimbp3
|
Ensembl Gene |
ENSMUSG00000071636 |
Gene Name |
RIMS binding protein 3 |
Synonyms |
LOC239731, LOC385766, RIM-BP3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
IGL02649
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 17027472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 299
(E299*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
AlphaFold |
Q3V0F0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000169803
AA Change: E299*
|
SMART Domains |
Protein: ENSMUSP00000127909 Gene: ENSMUSG00000071636 AA Change: E299*
Domain | Start | End | E-Value | Type |
coiled coil region
|
25 |
56 |
N/A |
INTRINSIC |
coiled coil region
|
84 |
145 |
N/A |
INTRINSIC |
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
coiled coil region
|
395 |
431 |
N/A |
INTRINSIC |
coiled coil region
|
547 |
610 |
N/A |
INTRINSIC |
low complexity region
|
688 |
701 |
N/A |
INTRINSIC |
low complexity region
|
769 |
780 |
N/A |
INTRINSIC |
SH3
|
825 |
888 |
7.58e-8 |
SMART |
low complexity region
|
913 |
924 |
N/A |
INTRINSIC |
FN3
|
980 |
1052 |
2.21e-3 |
SMART |
FN3
|
1073 |
1160 |
1.91e1 |
SMART |
low complexity region
|
1236 |
1243 |
N/A |
INTRINSIC |
SH3
|
1423 |
1487 |
5.08e-2 |
SMART |
SH3
|
1539 |
1602 |
5.97e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179034
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Male mice homozygous for a null mutation display infertility with impaired spermiogenesis and defects in sperm head and flagellum morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
A |
T |
11: 116,486,472 (GRCm39) |
I4F |
probably benign |
Het |
Adamts17 |
T |
G |
7: 66,499,626 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
A |
T |
11: 7,117,156 (GRCm39) |
M1008L |
probably damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atrnl1 |
T |
G |
19: 57,638,873 (GRCm39) |
|
probably benign |
Het |
Brd3 |
T |
A |
2: 27,344,362 (GRCm39) |
E456V |
probably damaging |
Het |
Cabin1 |
A |
T |
10: 75,573,252 (GRCm39) |
L712H |
probably damaging |
Het |
Ccna1 |
T |
A |
3: 54,961,807 (GRCm39) |
T38S |
probably damaging |
Het |
Chadl |
T |
A |
15: 81,580,059 (GRCm39) |
I59F |
probably benign |
Het |
Chmp3 |
T |
C |
6: 71,529,417 (GRCm39) |
M27T |
possibly damaging |
Het |
Clcn1 |
C |
T |
6: 42,275,763 (GRCm39) |
T295I |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,604,369 (GRCm39) |
|
probably null |
Het |
Dennd2a |
T |
A |
6: 39,447,290 (GRCm39) |
H776L |
probably benign |
Het |
Dimt1 |
G |
A |
13: 107,085,219 (GRCm39) |
R55K |
probably benign |
Het |
Dlg5 |
T |
A |
14: 24,196,319 (GRCm39) |
D1626V |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,487,465 (GRCm39) |
S3487P |
possibly damaging |
Het |
Hivep1 |
T |
C |
13: 42,310,787 (GRCm39) |
V1009A |
possibly damaging |
Het |
Ifna12 |
A |
T |
4: 88,521,091 (GRCm39) |
V152E |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,930,974 (GRCm39) |
C903S |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,313,672 (GRCm39) |
D1002G |
possibly damaging |
Het |
Isyna1 |
T |
C |
8: 71,048,904 (GRCm39) |
S328P |
probably damaging |
Het |
Itprid2 |
T |
C |
2: 79,472,303 (GRCm39) |
|
probably benign |
Het |
Lamc1 |
G |
A |
1: 153,122,788 (GRCm39) |
T764I |
possibly damaging |
Het |
Lta4h |
T |
C |
10: 93,308,831 (GRCm39) |
V377A |
probably benign |
Het |
Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
Myo3a |
A |
T |
2: 22,328,418 (GRCm39) |
L329F |
probably benign |
Het |
Nlgn2 |
T |
C |
11: 69,716,628 (GRCm39) |
T638A |
probably benign |
Het |
Oasl2 |
A |
G |
5: 115,035,753 (GRCm39) |
T10A |
probably damaging |
Het |
Or14j8 |
A |
T |
17: 38,263,864 (GRCm39) |
F17Y |
probably damaging |
Het |
Or5k1 |
T |
A |
16: 58,617,713 (GRCm39) |
R165S |
probably damaging |
Het |
Pde10a |
A |
T |
17: 9,172,604 (GRCm39) |
N296I |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,519,912 (GRCm39) |
I1385M |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,141,378 (GRCm39) |
V647A |
probably damaging |
Het |
Pnp |
T |
C |
14: 51,185,303 (GRCm39) |
|
probably benign |
Het |
Ppl |
A |
T |
16: 4,905,327 (GRCm39) |
I1656K |
probably damaging |
Het |
Sbsn |
C |
A |
7: 30,452,683 (GRCm39) |
A566D |
probably damaging |
Het |
Sh3rf1 |
T |
A |
8: 61,816,225 (GRCm39) |
M494K |
probably damaging |
Het |
Slc2a2 |
T |
A |
3: 28,772,885 (GRCm39) |
V226E |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,617,986 (GRCm39) |
I339N |
possibly damaging |
Het |
Tenm2 |
G |
T |
11: 36,097,912 (GRCm39) |
S445R |
possibly damaging |
Het |
Tlcd5 |
C |
A |
9: 43,022,783 (GRCm39) |
K190N |
probably benign |
Het |
Tnip2 |
A |
T |
5: 34,671,075 (GRCm39) |
L56Q |
probably damaging |
Het |
Trpv1 |
C |
T |
11: 73,141,612 (GRCm39) |
S485F |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,681,437 (GRCm39) |
M115T |
probably benign |
Het |
Zbtb38 |
G |
A |
9: 96,568,672 (GRCm39) |
T804I |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,520,167 (GRCm39) |
S430P |
possibly damaging |
Het |
|
Other mutations in Rimbp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00087:Rimbp3
|
APN |
16 |
17,027,607 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00786:Rimbp3
|
APN |
16 |
17,029,552 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01411:Rimbp3
|
APN |
16 |
17,028,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01434:Rimbp3
|
APN |
16 |
17,029,566 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01895:Rimbp3
|
APN |
16 |
17,029,300 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02322:Rimbp3
|
APN |
16 |
17,029,479 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03285:Rimbp3
|
APN |
16 |
17,031,096 (GRCm39) |
missense |
probably benign |
0.16 |
PIT4581001:Rimbp3
|
UTSW |
16 |
17,028,580 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0279:Rimbp3
|
UTSW |
16 |
17,027,317 (GRCm39) |
missense |
probably benign |
0.00 |
R0465:Rimbp3
|
UTSW |
16 |
17,029,644 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0605:Rimbp3
|
UTSW |
16 |
17,029,563 (GRCm39) |
missense |
probably damaging |
0.99 |
R0674:Rimbp3
|
UTSW |
16 |
17,030,601 (GRCm39) |
missense |
probably benign |
0.02 |
R1676:Rimbp3
|
UTSW |
16 |
17,028,977 (GRCm39) |
missense |
probably benign |
0.13 |
R1780:Rimbp3
|
UTSW |
16 |
17,030,496 (GRCm39) |
missense |
probably benign |
|
R1946:Rimbp3
|
UTSW |
16 |
17,028,291 (GRCm39) |
missense |
probably benign |
0.10 |
R2113:Rimbp3
|
UTSW |
16 |
17,027,539 (GRCm39) |
missense |
probably benign |
0.00 |
R3847:Rimbp3
|
UTSW |
16 |
17,028,163 (GRCm39) |
missense |
probably benign |
0.13 |
R3849:Rimbp3
|
UTSW |
16 |
17,028,163 (GRCm39) |
missense |
probably benign |
0.13 |
R3850:Rimbp3
|
UTSW |
16 |
17,028,163 (GRCm39) |
missense |
probably benign |
0.13 |
R4355:Rimbp3
|
UTSW |
16 |
17,027,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4646:Rimbp3
|
UTSW |
16 |
17,030,962 (GRCm39) |
missense |
probably damaging |
0.99 |
R4669:Rimbp3
|
UTSW |
16 |
17,027,053 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4732:Rimbp3
|
UTSW |
16 |
17,028,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4733:Rimbp3
|
UTSW |
16 |
17,028,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5025:Rimbp3
|
UTSW |
16 |
17,027,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R5039:Rimbp3
|
UTSW |
16 |
17,031,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R5177:Rimbp3
|
UTSW |
16 |
17,027,781 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5311:Rimbp3
|
UTSW |
16 |
17,028,708 (GRCm39) |
missense |
probably benign |
0.00 |
R5942:Rimbp3
|
UTSW |
16 |
17,029,752 (GRCm39) |
missense |
probably benign |
0.00 |
R6063:Rimbp3
|
UTSW |
16 |
17,028,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R6092:Rimbp3
|
UTSW |
16 |
17,030,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R6126:Rimbp3
|
UTSW |
16 |
17,030,140 (GRCm39) |
missense |
probably benign |
0.25 |
R6288:Rimbp3
|
UTSW |
16 |
17,030,772 (GRCm39) |
missense |
probably benign |
0.22 |
R6446:Rimbp3
|
UTSW |
16 |
17,030,793 (GRCm39) |
missense |
probably benign |
0.00 |
R6773:Rimbp3
|
UTSW |
16 |
17,026,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R7017:Rimbp3
|
UTSW |
16 |
17,027,610 (GRCm39) |
missense |
probably benign |
0.04 |
R7043:Rimbp3
|
UTSW |
16 |
17,028,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Rimbp3
|
UTSW |
16 |
17,028,190 (GRCm39) |
missense |
probably benign |
0.20 |
R7378:Rimbp3
|
UTSW |
16 |
17,029,068 (GRCm39) |
missense |
probably benign |
|
R7440:Rimbp3
|
UTSW |
16 |
17,031,065 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7788:Rimbp3
|
UTSW |
16 |
17,030,568 (GRCm39) |
missense |
probably benign |
0.00 |
R7879:Rimbp3
|
UTSW |
16 |
17,028,910 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8071:Rimbp3
|
UTSW |
16 |
17,028,727 (GRCm39) |
missense |
probably benign |
|
R8272:Rimbp3
|
UTSW |
16 |
17,026,969 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8419:Rimbp3
|
UTSW |
16 |
17,030,886 (GRCm39) |
missense |
probably damaging |
0.97 |
R8819:Rimbp3
|
UTSW |
16 |
17,028,771 (GRCm39) |
missense |
probably benign |
0.17 |
R8830:Rimbp3
|
UTSW |
16 |
17,026,870 (GRCm39) |
missense |
probably damaging |
0.98 |
R8936:Rimbp3
|
UTSW |
16 |
17,030,884 (GRCm39) |
missense |
probably benign |
|
R8982:Rimbp3
|
UTSW |
16 |
17,027,511 (GRCm39) |
missense |
probably benign |
0.11 |
R9365:Rimbp3
|
UTSW |
16 |
17,026,620 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9799:Rimbp3
|
UTSW |
16 |
17,027,641 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Rimbp3
|
UTSW |
16 |
17,027,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2015-04-16 |