Incidental Mutation 'R5025:Rimbp3'
ID |
391310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rimbp3
|
Ensembl Gene |
ENSMUSG00000071636 |
Gene Name |
RIMS binding protein 3 |
Synonyms |
LOC239731, LOC385766, RIM-BP3 |
MMRRC Submission |
042616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.201)
|
Stock # |
R5025 (G1)
|
Quality Score |
186 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17027671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 365
(E365G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
AlphaFold |
Q3V0F0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169803
AA Change: E365G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127909 Gene: ENSMUSG00000071636 AA Change: E365G
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (40/40) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
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 |
IGL02649:Rimbp3
|
APN |
16 |
17,027,472 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCCCAGGCTTCTGAATC -3'
(R):5'- AGATTGGTCTCCTGAAGCTTGC -3'
Sequencing Primer
(F):5'- CCAGGCTTCTGAATCCGAGGTAAG -3'
(R):5'- TGCGGGCCCTGTCTTCAAG -3'
|
Posted On |
2016-06-06 |