Incidental Mutation 'R6773:Rimbp3'
| ID |
543645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp3
|
| Ensembl Gene |
ENSMUSG00000071636 |
| Gene Name |
RIMS binding protein 3 |
| Synonyms |
RIM-BP3, LOC239731, LOC385766 |
| MMRRC Submission |
044889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R6773 (G1)
|
| Quality Score |
62.0073 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17208603-17213982 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17209015 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 101
(E101V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
| AlphaFold |
Q3V0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169803
AA Change: E101V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: E101V
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
A |
3: 92,429,249 (GRCm38) |
I49F |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,602,677 (GRCm38) |
D161G |
probably damaging |
Het |
| Aqr |
A |
T |
2: 114,148,996 (GRCm38) |
N319K |
possibly damaging |
Het |
| Asns |
C |
A |
6: 7,676,284 (GRCm38) |
R424L |
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,715,377 (GRCm38) |
V197A |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 21,973,305 (GRCm38) |
E37G |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,849,041 (GRCm38) |
V1102E |
possibly damaging |
Het |
| Cd82 |
G |
A |
2: 93,421,876 (GRCm38) |
A130V |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,642,561 (GRCm38) |
|
probably benign |
Het |
| Cnot6l |
A |
C |
5: 96,094,299 (GRCm38) |
C188W |
probably damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,810,290 (GRCm38) |
T119S |
possibly damaging |
Het |
| Dok7 |
G |
A |
5: 35,077,184 (GRCm38) |
R193H |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,440,772 (GRCm38) |
S386T |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 80,611,815 (GRCm38) |
T246P |
probably damaging |
Het |
| Gm29666 |
A |
T |
15: 84,914,159 (GRCm38) |
I67K |
unknown |
Het |
| Gpr153 |
T |
A |
4: 152,279,300 (GRCm38) |
V59E |
probably damaging |
Het |
| Inpp4b |
G |
A |
8: 81,856,620 (GRCm38) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,386,760 (GRCm38) |
I247V |
possibly damaging |
Het |
| Klri1 |
C |
T |
6: 129,703,547 (GRCm38) |
V91M |
possibly damaging |
Het |
| M1ap |
T |
A |
6: 82,968,080 (GRCm38) |
D118E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 110,034,925 (GRCm38) |
V406A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,167,551 (GRCm38) |
V369A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,345,216 (GRCm38) |
L162I |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 79,643,806 (GRCm38) |
Y71C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,751,302 (GRCm38) |
N1044D |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,205,639 (GRCm38) |
M114K |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,263,771 (GRCm38) |
D114G |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,693,317 (GRCm38) |
V1268D |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,999,355 (GRCm38) |
|
probably benign |
Het |
| Rit1 |
C |
T |
3: 88,726,369 (GRCm38) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,579,907 (GRCm38) |
|
probably benign |
Homo |
| Shisa9 |
A |
G |
16: 11,985,028 (GRCm38) |
T150A |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,802,437 (GRCm38) |
V112A |
probably damaging |
Het |
| Strada |
T |
A |
11: 106,164,907 (GRCm38) |
I305F |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,049,146 (GRCm38) |
E3454K |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,728,754 (GRCm38) |
N25I |
probably damaging |
Het |
| Tmem259 |
T |
C |
10: 79,977,588 (GRCm38) |
D519G |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,919,707 (GRCm38) |
Q445R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,343,692 (GRCm38) |
D20G |
possibly damaging |
Het |
| Trbv5 |
G |
T |
6: 41,062,617 (GRCm38) |
W52L |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,634,057 (GRCm38) |
H379L |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,362,902 (GRCm38) |
K193E |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,651,543 (GRCm38) |
V2459A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,592,560 (GRCm38) |
V731A |
probably benign |
Het |
|
| Other mutations in Rimbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Rimbp3
|
APN |
16 |
17,209,743 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL00786:Rimbp3
|
APN |
16 |
17,211,688 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01411:Rimbp3
|
APN |
16 |
17,211,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01434:Rimbp3
|
APN |
16 |
17,211,702 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01895:Rimbp3
|
APN |
16 |
17,211,436 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02322:Rimbp3
|
APN |
16 |
17,211,615 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02649:Rimbp3
|
APN |
16 |
17,209,608 (GRCm38) |
nonsense |
probably null |
|
|
IGL03285:Rimbp3
|
APN |
16 |
17,213,232 (GRCm38) |
missense |
probably benign |
0.16 |
|
PIT4581001:Rimbp3
|
UTSW |
16 |
17,210,716 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0279:Rimbp3
|
UTSW |
16 |
17,209,453 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0465:Rimbp3
|
UTSW |
16 |
17,211,780 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0605:Rimbp3
|
UTSW |
16 |
17,211,699 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0674:Rimbp3
|
UTSW |
16 |
17,212,737 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1676:Rimbp3
|
UTSW |
16 |
17,211,113 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1780:Rimbp3
|
UTSW |
16 |
17,212,632 (GRCm38) |
missense |
probably benign |
|
|
R1946:Rimbp3
|
UTSW |
16 |
17,210,427 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2113:Rimbp3
|
UTSW |
16 |
17,209,675 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3847:Rimbp3
|
UTSW |
16 |
17,210,299 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3849:Rimbp3
|
UTSW |
16 |
17,210,299 (GRCm38) |
missense |
probably benign |
0.13 |
|
R3850:Rimbp3
|
UTSW |
16 |
17,210,299 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4355:Rimbp3
|
UTSW |
16 |
17,209,692 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4646:Rimbp3
|
UTSW |
16 |
17,213,098 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4669:Rimbp3
|
UTSW |
16 |
17,209,189 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4732:Rimbp3
|
UTSW |
16 |
17,210,601 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4733:Rimbp3
|
UTSW |
16 |
17,210,601 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5025:Rimbp3
|
UTSW |
16 |
17,209,807 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5039:Rimbp3
|
UTSW |
16 |
17,213,331 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5177:Rimbp3
|
UTSW |
16 |
17,209,917 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5311:Rimbp3
|
UTSW |
16 |
17,210,844 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5942:Rimbp3
|
UTSW |
16 |
17,211,888 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6063:Rimbp3
|
UTSW |
16 |
17,210,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6092:Rimbp3
|
UTSW |
16 |
17,212,270 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6126:Rimbp3
|
UTSW |
16 |
17,212,276 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6288:Rimbp3
|
UTSW |
16 |
17,212,908 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6446:Rimbp3
|
UTSW |
16 |
17,212,929 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7017:Rimbp3
|
UTSW |
16 |
17,209,746 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7043:Rimbp3
|
UTSW |
16 |
17,211,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7048:Rimbp3
|
UTSW |
16 |
17,210,326 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7378:Rimbp3
|
UTSW |
16 |
17,211,204 (GRCm38) |
missense |
probably benign |
|
|
R7440:Rimbp3
|
UTSW |
16 |
17,213,201 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7788:Rimbp3
|
UTSW |
16 |
17,212,704 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7879:Rimbp3
|
UTSW |
16 |
17,211,046 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R8071:Rimbp3
|
UTSW |
16 |
17,210,863 (GRCm38) |
missense |
probably benign |
|
|
R8272:Rimbp3
|
UTSW |
16 |
17,209,105 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8419:Rimbp3
|
UTSW |
16 |
17,213,022 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8819:Rimbp3
|
UTSW |
16 |
17,210,907 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8830:Rimbp3
|
UTSW |
16 |
17,209,006 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8936:Rimbp3
|
UTSW |
16 |
17,213,020 (GRCm38) |
missense |
probably benign |
|
|
R8982:Rimbp3
|
UTSW |
16 |
17,209,647 (GRCm38) |
missense |
probably benign |
0.11 |
|
R9365:Rimbp3
|
UTSW |
16 |
17,208,756 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9799:Rimbp3
|
UTSW |
16 |
17,209,777 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
Z1176:Rimbp3
|
UTSW |
16 |
17,209,474 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGGCCACAATGACAAAG -3'
(R):5'- TAAGGAATAGCTGGCGCTCC -3'
Sequencing Primer
(F):5'- ACTACGGGCAGAGCTGG -3'
(R):5'- AATAGCTGGCGCTCCACGTC -3'
|
| Posted On |
2019-04-22 |
Incidental Mutation