Incidental Mutation 'PIT4581001:Rimbp3'
ID |
556532 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4581001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 17028580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 668
(S668N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
AlphaFold |
Q3V0F0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169803
AA Change: S668N
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000127909 Gene: ENSMUSG00000071636 AA Change: S668N
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 |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,442,652 (GRCm39) |
E365G |
probably damaging |
Het |
Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,140,302 (GRCm39) |
D822G |
unknown |
Het |
Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,910 (GRCm39) |
E786G |
probably benign |
Het |
Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
Slc15a2 |
A |
T |
16: 36,592,405 (GRCm39) |
C251S |
probably benign |
Het |
Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
Vmn2r5 |
T |
A |
3: 64,411,348 (GRCm39) |
K407* |
probably null |
Het |
Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
Zfp595 |
A |
G |
13: 67,465,949 (GRCm39) |
S108P |
probably benign |
Het |
Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGCCAACTGGATGAAGAAG -3'
(R):5'- TCCTCAACGATAACTGGATTCTCC -3'
Sequencing Primer
(F):5'- CCAACTGGATGAAGAAGATGGC -3'
(R):5'- AACGATAACTGGATTCTCCTGCTGG -3'
|
Posted On |
2019-06-07 |