Incidental Mutation 'IGL01434:Rimbp3'
| ID |
84284 |
| 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 # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17029566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 997
(T997A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
| AlphaFold |
Q3V0F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169803
AA Change: T997A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T997A
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation