Incidental Mutation 'R9799:Rimbp3'
| ID |
735125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp3
|
| Ensembl Gene |
ENSMUSG00000071636 |
| Gene Name |
RIMS binding protein 3 |
| Synonyms |
LOC239731, LOC385766, RIM-BP3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R9799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17027641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 355
(E355G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
| AlphaFold |
Q3V0F0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169803
AA Change: E355G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: E355G
| 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: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,132,998 (GRCm39) |
Y1309C |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,768,961 (GRCm39) |
T1056A |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,805,489 (GRCm39) |
R826S |
probably damaging |
Het |
| Agxt |
T |
C |
1: 93,063,070 (GRCm39) |
W19R |
probably benign |
Het |
| Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,990,268 (GRCm39) |
Y248H |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,855,391 (GRCm39) |
D232G |
unknown |
Het |
| Arid4b |
T |
C |
13: 14,358,967 (GRCm39) |
S668P |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,417,505 (GRCm39) |
S775R |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,377,799 (GRCm39) |
F20L |
unknown |
Het |
| Cimap1a |
A |
T |
7: 140,430,706 (GRCm39) |
E254D |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,842,988 (GRCm39) |
H218L |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,298,672 (GRCm39) |
K564R |
unknown |
Het |
| Cyp2r1 |
A |
G |
7: 114,151,207 (GRCm39) |
F371L |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,469,812 (GRCm39) |
F392I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,968 (GRCm39) |
T2149A |
probably benign |
Het |
| Emx2 |
A |
G |
19: 59,448,036 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Erbin |
T |
C |
13: 103,971,384 (GRCm39) |
D744G |
probably benign |
Het |
| Gcm2 |
T |
C |
13: 41,258,924 (GRCm39) |
N140S |
probably damaging |
Het |
| Gnai2 |
C |
T |
9: 107,512,380 (GRCm39) |
A13T |
probably benign |
Het |
| Gpr150 |
T |
C |
13: 76,204,636 (GRCm39) |
Y103C |
possibly damaging |
Het |
| Gstp2 |
A |
G |
19: 4,091,901 (GRCm39) |
|
probably null |
Het |
| Kdr |
A |
G |
5: 76,117,752 (GRCm39) |
I667T |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,612,400 (GRCm39) |
I534T |
|
Het |
| Lrrtm3 |
T |
A |
10: 63,925,749 (GRCm39) |
|
probably benign |
Het |
| Meiob |
C |
T |
17: 25,042,574 (GRCm39) |
T134I |
probably benign |
Het |
| Msh2 |
G |
T |
17: 88,024,933 (GRCm39) |
A604S |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,062,780 (GRCm39) |
T319A |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,490,181 (GRCm39) |
T1514I |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,496,400 (GRCm39) |
M98T |
possibly damaging |
Het |
| Nfatc2ip |
A |
G |
7: 125,989,739 (GRCm39) |
V215A |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,065 (GRCm39) |
T46S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,732 (GRCm39) |
M118K |
probably damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,888,114 (GRCm39) |
E146K |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,122,613 (GRCm39) |
Y727C |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,937,174 (GRCm39) |
F30L |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,591 (GRCm39) |
S1438P |
possibly damaging |
Het |
| Pnma2 |
T |
A |
14: 67,154,009 (GRCm39) |
H144Q |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,952,825 (GRCm39) |
N70S |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,054,236 (GRCm39) |
M725K |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,858,489 (GRCm39) |
K533E |
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,315,126 (GRCm39) |
H426Q |
probably damaging |
Het |
| Rxfp1 |
A |
G |
3: 79,578,182 (GRCm39) |
F170L |
probably damaging |
Het |
| Sema3f |
G |
T |
9: 107,562,562 (GRCm39) |
A473E |
probably damaging |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Siglec1 |
G |
T |
2: 130,915,941 (GRCm39) |
P1307Q |
probably damaging |
Het |
| Srd5a2 |
A |
C |
17: 74,331,535 (GRCm39) |
I154S |
possibly damaging |
Het |
| Sugp1 |
A |
G |
8: 70,523,068 (GRCm39) |
E537G |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,074 (GRCm39) |
E91G |
possibly damaging |
Het |
| Tiparp |
A |
T |
3: 65,454,973 (GRCm39) |
N373Y |
probably benign |
Het |
| Tmem217 |
A |
C |
17: 29,745,232 (GRCm39) |
I166S |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,563,406 (GRCm39) |
Y746N |
probably damaging |
Het |
| Tubb2a |
C |
T |
13: 34,260,607 (GRCm39) |
D31N |
probably benign |
Het |
| Utrn |
T |
G |
10: 12,585,736 (GRCm39) |
I1014L |
probably benign |
Het |
| Vtn |
T |
C |
11: 78,392,625 (GRCm39) |
I401T |
probably benign |
Het |
| Wwc2 |
G |
T |
8: 48,321,595 (GRCm39) |
H506Q |
unknown |
Het |
| Xab2 |
G |
T |
8: 3,668,182 (GRCm39) |
T132N |
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 |
|
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 |
|
Z1176:Rimbp3
|
UTSW |
16 |
17,027,338 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCTGAATCCGAGGTAAGG -3'
(R):5'- CCTCAGATTGGTCTCCTGAAGC -3'
Sequencing Primer
(F):5'- AATCCGAGGTAAGGGCCCC -3'
(R):5'- CTGTCTTCAAGGCGCTGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation