Incidental Mutation 'R5942:Rimbp3'
| ID |
460370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp3
|
| Ensembl Gene |
ENSMUSG00000071636 |
| Gene Name |
RIMS binding protein 3 |
| Synonyms |
LOC239731, LOC385766, RIM-BP3 |
| MMRRC Submission |
044134-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5942 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17029752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1059
(T1059A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
| AlphaFold |
Q3V0F0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169803
AA Change: T1059A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T1059A
| 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: 99.8%
- 3x: 99.3%
- 10x: 96.7%
- 20x: 89.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
T |
17: 46,623,333 (GRCm39) |
V860M |
probably benign |
Het |
| Accs |
A |
T |
2: 93,666,392 (GRCm39) |
L432M |
probably damaging |
Het |
| Actrt3 |
T |
A |
3: 30,652,813 (GRCm39) |
N94Y |
possibly damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,380 (GRCm39) |
Q80R |
probably benign |
Het |
| Ccr8 |
G |
T |
9: 119,923,772 (GRCm39) |
V296F |
probably damaging |
Het |
| Cep170 |
T |
A |
1: 176,583,985 (GRCm39) |
E798V |
probably damaging |
Het |
| Cttnbp2 |
T |
A |
6: 18,448,439 (GRCm39) |
E73D |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,010,129 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,117,466 (GRCm39) |
Y41* |
probably null |
Het |
| Enc1 |
G |
A |
13: 97,382,887 (GRCm39) |
D466N |
probably benign |
Het |
| Enpp1 |
C |
A |
10: 24,551,966 (GRCm39) |
E138* |
probably null |
Het |
| Entrep1 |
A |
G |
19: 23,963,834 (GRCm39) |
V245A |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,554,516 (GRCm39) |
R27G |
possibly damaging |
Het |
| Fut10 |
A |
G |
8: 31,691,485 (GRCm39) |
N110S |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,721,534 (GRCm39) |
|
probably null |
Het |
| Gm14393 |
G |
A |
2: 174,903,689 (GRCm39) |
Q73* |
probably null |
Het |
| Gpr156 |
C |
T |
16: 37,825,264 (GRCm39) |
P494S |
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,192 (GRCm39) |
K508* |
probably null |
Het |
| Hc |
A |
T |
2: 34,918,137 (GRCm39) |
C715* |
probably null |
Het |
| Hook2 |
C |
T |
8: 85,721,409 (GRCm39) |
|
probably null |
Het |
| Klhdc7b |
A |
C |
15: 89,271,634 (GRCm39) |
I839L |
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,516,792 (GRCm39) |
L1584P |
probably damaging |
Het |
| Lamp1 |
T |
C |
8: 13,223,941 (GRCm39) |
F358L |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mga |
A |
G |
2: 119,777,440 (GRCm39) |
I1871V |
probably benign |
Het |
| Mgmt |
T |
A |
7: 136,723,219 (GRCm39) |
D96E |
probably benign |
Het |
| Morc2a |
C |
A |
11: 3,629,936 (GRCm39) |
T424K |
probably damaging |
Het |
| Myo1g |
A |
G |
11: 6,464,888 (GRCm39) |
L462P |
probably damaging |
Het |
| Ncaph |
C |
A |
2: 126,958,608 (GRCm39) |
|
probably null |
Het |
| Nlrc3 |
A |
T |
16: 3,767,293 (GRCm39) |
D969E |
probably damaging |
Het |
| Nt5c3 |
A |
T |
6: 56,874,839 (GRCm39) |
|
probably null |
Het |
| Or4c12b |
G |
T |
2: 89,646,684 (GRCm39) |
E5* |
probably null |
Het |
| Or5ac15 |
A |
T |
16: 58,940,039 (GRCm39) |
Y131* |
probably null |
Het |
| Or5d41 |
A |
C |
2: 88,054,916 (GRCm39) |
I153M |
probably benign |
Het |
| Or8h8 |
T |
C |
2: 86,753,750 (GRCm39) |
N42S |
probably damaging |
Het |
| Parp14 |
C |
A |
16: 35,659,737 (GRCm39) |
M1628I |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,005,969 (GRCm39) |
P693Q |
probably benign |
Het |
| Parp9 |
A |
G |
16: 35,792,259 (GRCm39) |
D485G |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,444 (GRCm39) |
V36D |
probably damaging |
Het |
| Pcdhb5 |
C |
T |
18: 37,453,838 (GRCm39) |
Q73* |
probably null |
Het |
| Pecam1 |
G |
T |
11: 106,552,809 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,660,277 (GRCm39) |
I527V |
probably benign |
Het |
| Phf11 |
G |
A |
14: 59,497,593 (GRCm39) |
P13S |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,553,706 (GRCm39) |
V388D |
possibly damaging |
Het |
| Psmc4 |
C |
T |
7: 27,746,480 (GRCm39) |
V202I |
probably damaging |
Het |
| Ptx3 |
T |
G |
3: 66,127,484 (GRCm39) |
M1R |
probably null |
Het |
| Rmdn3 |
G |
A |
2: 118,978,058 (GRCm39) |
A181V |
probably damaging |
Het |
| Rnase10 |
A |
T |
14: 51,246,735 (GRCm39) |
M38L |
probably benign |
Het |
| Sec16b |
T |
A |
1: 157,358,920 (GRCm39) |
Y118N |
probably damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,741,159 (GRCm39) |
T32A |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,180 (GRCm39) |
D954G |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,445,533 (GRCm39) |
N618S |
possibly damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,888 (GRCm39) |
D1028G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,385,860 (GRCm39) |
D1379E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,505 (GRCm39) |
C23463S |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,250,619 (GRCm39) |
T745A |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,417 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Wbp1l |
C |
A |
19: 46,642,869 (GRCm39) |
T290K |
probably damaging |
Het |
| Wdr25 |
A |
G |
12: 108,864,392 (GRCm39) |
N179S |
probably benign |
Het |
| Wdr62 |
G |
A |
7: 29,942,504 (GRCm39) |
Q1035* |
probably null |
Het |
| Yif1a |
C |
T |
19: 5,141,669 (GRCm39) |
R196C |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,307 (GRCm39) |
K482N |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
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'- TCTGGCAGCAATAGATATCCGC -3'
(R):5'- AACAGGGTGTTTCCAGCAG -3'
Sequencing Primer
(F):5'- CAATAGATATCCGCATGTGGTGTACC -3'
(R):5'- GCAACTTCGGTCACCTTGAAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation