Incidental Mutation 'R5039:Rimbp3'
| ID |
395726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rimbp3
|
| Ensembl Gene |
ENSMUSG00000071636 |
| Gene Name |
RIMS binding protein 3 |
| Synonyms |
LOC239731, LOC385766, RIM-BP3 |
| MMRRC Submission |
042629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.201)
|
| Stock # |
R5039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17026467-17031846 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17031195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1540
(T1540A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169803]
|
| AlphaFold |
Q3V0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169803
AA Change: T1540A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127909
Gene: ENSMUSG00000071636
AA Change: T1540A
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (61/61) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
G |
A |
9: 44,192,863 (GRCm39) |
A161V |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,164,808 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,961 (GRCm39) |
D396G |
probably benign |
Het |
| Ark2c |
A |
G |
18: 77,550,608 (GRCm39) |
S107P |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,485,340 (GRCm39) |
V163M |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,155,621 (GRCm39) |
P353S |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,968,162 (GRCm39) |
Y1116H |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,306,514 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,890,429 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
| Ctr9 |
C |
A |
7: 110,642,064 (GRCm39) |
H297Q |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
T |
C |
10: 77,888,734 (GRCm39) |
|
probably null |
Het |
| Dock4 |
C |
A |
12: 40,867,745 (GRCm39) |
N1440K |
probably damaging |
Het |
| Etnk1 |
T |
A |
6: 143,141,043 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,063,726 (GRCm39) |
|
probably null |
Het |
| Fanca |
T |
C |
8: 124,010,785 (GRCm39) |
D908G |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3633 |
A |
C |
14: 42,461,161 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr139 |
A |
G |
7: 118,744,165 (GRCm39) |
V140A |
probably benign |
Het |
| Ighv1-62-3 |
G |
T |
12: 115,425,014 (GRCm39) |
T13K |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,226,205 (GRCm39) |
T629A |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,779,724 (GRCm39) |
S199P |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,230,962 (GRCm39) |
G663D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,888 (GRCm39) |
D407G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,405,013 (GRCm39) |
K391R |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,013,107 (GRCm39) |
S127T |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,477,955 (GRCm39) |
D1759V |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,616 (GRCm39) |
D447G |
probably damaging |
Het |
| Ndufb7 |
A |
G |
8: 84,298,094 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
T |
A |
9: 88,245,634 (GRCm39) |
N301K |
probably benign |
Het |
| Or10d4b |
A |
T |
9: 39,534,856 (GRCm39) |
T146S |
possibly damaging |
Het |
| Or8g27 |
T |
A |
9: 39,129,410 (GRCm39) |
Y252* |
probably null |
Het |
| Pcdh10 |
A |
G |
3: 45,336,296 (GRCm39) |
N870S |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,709,305 (GRCm39) |
V670A |
probably benign |
Het |
| Phf8-ps |
A |
C |
17: 33,286,734 (GRCm39) |
C23G |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
G |
C |
7: 108,637,930 (GRCm39) |
S274R |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,268,805 (GRCm39) |
M1464L |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,399 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ssb |
A |
T |
2: 69,696,581 (GRCm39) |
E38D |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,709,292 (GRCm39) |
I16N |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,352,878 (GRCm39) |
T973A |
probably damaging |
Het |
| Tial1 |
T |
C |
7: 128,045,692 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,675 (GRCm39) |
T89A |
possibly damaging |
Het |
| Trpv5 |
T |
C |
6: 41,652,879 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,062,267 (GRCm39) |
S265T |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,089,013 (GRCm39) |
D1006G |
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 |
|
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'- AATGGACACCTGGGCAAAATC -3'
(R):5'- CATGGACAGGCAAGTCATCCAG -3'
Sequencing Primer
(F):5'- TGGGCAAAATCCCCGGG -3'
(R):5'- GCAAGTCATCCAGCAGGTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation