Incidental Mutation 'IGL02322:Rimbp3'
| ID |
288291 |
| 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 # |
IGL02322
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 17029479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 968
(F968V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
| AlphaFold |
Q3V0F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169803
AA Change: F968V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: F968V
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
G |
A |
8: 106,425,268 (GRCm39) |
A355V |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,445,990 (GRCm39) |
V801A |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,564,619 (GRCm39) |
V479D |
possibly damaging |
Het |
| Arid5a |
C |
T |
1: 36,358,497 (GRCm39) |
P423L |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,258,920 (GRCm39) |
I650V |
probably benign |
Het |
| B4gat1 |
C |
A |
19: 5,089,155 (GRCm39) |
P51T |
possibly damaging |
Het |
| Caskin2 |
G |
A |
11: 115,695,303 (GRCm39) |
T310M |
probably damaging |
Het |
| Ccdc121rt1 |
A |
G |
1: 181,337,999 (GRCm39) |
S318P |
possibly damaging |
Het |
| Ccdc159 |
G |
T |
9: 21,840,669 (GRCm39) |
V79L |
possibly damaging |
Het |
| Ccser2 |
A |
T |
14: 36,631,086 (GRCm39) |
V18E |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,581 (GRCm39) |
V432A |
probably benign |
Het |
| Cdh11 |
A |
T |
8: 103,374,151 (GRCm39) |
F529Y |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,248 (GRCm39) |
E1370G |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,694,502 (GRCm39) |
G717C |
unknown |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Ctrb1 |
A |
C |
8: 112,415,951 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,803 (GRCm39) |
S208P |
possibly damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,888,572 (GRCm39) |
I158N |
possibly damaging |
Het |
| Evi5l |
T |
C |
8: 4,237,236 (GRCm39) |
|
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,864,298 (GRCm39) |
E22G |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,894,676 (GRCm38) |
F825I |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,732 (GRCm39) |
N176K |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,274,499 (GRCm39) |
|
probably null |
Het |
| H1f7 |
T |
C |
15: 98,154,757 (GRCm39) |
T131A |
possibly damaging |
Het |
| Il20 |
C |
T |
1: 130,837,313 (GRCm39) |
C104Y |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,310,722 (GRCm39) |
N212S |
probably benign |
Het |
| Olfm5 |
C |
T |
7: 103,803,608 (GRCm39) |
G210D |
probably damaging |
Het |
| Olig2 |
T |
C |
16: 91,023,546 (GRCm39) |
S87P |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,784 (GRCm39) |
S93G |
probably benign |
Het |
| Or4c121 |
T |
A |
2: 89,023,806 (GRCm39) |
T191S |
probably damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,946,950 (GRCm39) |
A418S |
probably benign |
Het |
| Otog |
G |
T |
7: 45,950,881 (GRCm39) |
R2551L |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,200 (GRCm39) |
N24I |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,448,419 (GRCm39) |
Y626C |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,896,894 (GRCm39) |
K934* |
probably null |
Het |
| Pramel14 |
G |
A |
4: 143,718,591 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,783,110 (GRCm39) |
N57K |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,872,251 (GRCm39) |
D195G |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,499 (GRCm39) |
N1047S |
possibly damaging |
Het |
| Slc35g1 |
C |
T |
19: 38,389,013 (GRCm39) |
R107* |
probably null |
Het |
| Ssh2 |
A |
C |
11: 77,307,239 (GRCm39) |
|
probably null |
Het |
| Tiparp |
C |
A |
3: 65,439,441 (GRCm39) |
C70* |
probably null |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,197 (GRCm39) |
I824T |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,570,687 (GRCm39) |
S402P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,845,183 (GRCm39) |
E2089G |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,082 (GRCm39) |
H441L |
probably benign |
Het |
| Zdhhc3 |
C |
T |
9: 122,929,542 (GRCm39) |
G31D |
probably benign |
Het |
| Zfp330 |
A |
G |
8: 83,497,450 (GRCm39) |
L64S |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation