Incidental Mutation 'IGL02708:Rhobtb3'
| ID |
304458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhobtb3
|
| Ensembl Gene |
ENSMUSG00000021589 |
| Gene Name |
Rho-related BTB domain containing 3 |
| Synonyms |
4930503C18Rik, 1700040C17Rik, 2610033K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL02708
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
76017656-76092044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76065843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 180
(D180G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022078]
[ENSMUST00000109606]
|
| AlphaFold |
Q9CTN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022078
AA Change: D180G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: D180G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
47 |
195 |
9e-7 |
PFAM |
|
Blast:BTB
|
254 |
406 |
2e-95 |
BLAST |
|
BTB
|
420 |
518 |
3.12e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109606
AA Change: D180G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105235
Gene: ENSMUSG00000021589
AA Change: D180G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ras
|
45 |
195 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220939
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality, reduced body weight and slightly reduced organ weights that varies by sex. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
T |
14: 118,738,213 (GRCm39) |
V1104D |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,532,161 (GRCm39) |
V1024E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,686 (GRCm39) |
H348R |
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,574,354 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
C |
6: 118,495,379 (GRCm39) |
|
probably benign |
Het |
| Avpr1b |
A |
G |
1: 131,528,389 (GRCm39) |
D304G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,156,498 (GRCm39) |
D475G |
possibly damaging |
Het |
| E2f8 |
T |
C |
7: 48,516,982 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,173,211 (GRCm39) |
I2501F |
probably damaging |
Het |
| Gm4181 |
A |
G |
14: 51,870,689 (GRCm39) |
C91R |
probably benign |
Het |
| Gm5424 |
T |
A |
10: 61,907,390 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai3 |
A |
G |
3: 108,025,660 (GRCm39) |
F140L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,563,765 (GRCm39) |
D212V |
probably damaging |
Het |
| Irgm2 |
T |
C |
11: 58,111,350 (GRCm39) |
V347A |
probably benign |
Het |
| Itch |
A |
G |
2: 155,015,964 (GRCm39) |
T150A |
probably benign |
Het |
| Itgb3 |
A |
C |
11: 104,528,655 (GRCm39) |
I261L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,212,420 (GRCm39) |
V31M |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,203,463 (GRCm39) |
C181Y |
probably damaging |
Het |
| Klrb1 |
A |
G |
6: 128,690,548 (GRCm39) |
L58S |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,481,097 (GRCm39) |
E61G |
probably damaging |
Het |
| Krt78 |
T |
A |
15: 101,861,842 (GRCm39) |
T135S |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,202,808 (GRCm39) |
|
probably null |
Het |
| Mphosph6 |
A |
G |
8: 118,519,525 (GRCm39) |
|
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,790,222 (GRCm39) |
S393P |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,027 (GRCm39) |
|
probably benign |
Het |
| Or8g53 |
T |
C |
9: 39,683,214 (GRCm39) |
N294S |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,988 (GRCm39) |
Y316C |
probably damaging |
Het |
| Pkp3 |
A |
T |
7: 140,669,681 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,983 (GRCm39) |
L341H |
probably damaging |
Het |
| Psmb8 |
A |
G |
17: 34,420,217 (GRCm39) |
K270E |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,488,561 (GRCm39) |
N959D |
probably damaging |
Het |
| Rab6b |
T |
G |
9: 103,038,074 (GRCm39) |
|
probably null |
Het |
| Sccpdh |
G |
A |
1: 179,508,074 (GRCm39) |
C238Y |
probably benign |
Het |
| Srm |
C |
T |
4: 148,677,803 (GRCm39) |
S147L |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,788,350 (GRCm39) |
S173T |
probably damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,112,797 (GRCm39) |
E752G |
possibly damaging |
Het |
| Tmem151a |
G |
T |
19: 5,132,875 (GRCm39) |
Y110* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,556,957 (GRCm39) |
V30016A |
probably damaging |
Het |
| Txnrd2 |
A |
G |
16: 18,287,590 (GRCm39) |
E331G |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,215,485 (GRCm39) |
C161R |
possibly damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,415 (GRCm39) |
S111R |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,796 (GRCm39) |
I407F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,854,850 (GRCm39) |
M2258V |
probably benign |
Het |
| Ypel1 |
A |
T |
16: 16,923,872 (GRCm39) |
V59D |
probably benign |
Het |
|
| Other mutations in Rhobtb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02117:Rhobtb3
|
APN |
13 |
76,025,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Rhobtb3
|
APN |
13 |
76,025,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Rhobtb3
|
APN |
13 |
76,059,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Rhobtb3
|
APN |
13 |
76,091,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Rhobtb3
|
UTSW |
13 |
76,050,364 (GRCm39) |
makesense |
probably null |
|
|
R0285:Rhobtb3
|
UTSW |
13 |
76,025,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2233:Rhobtb3
|
UTSW |
13 |
76,020,484 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2289:Rhobtb3
|
UTSW |
13 |
76,059,046 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2332:Rhobtb3
|
UTSW |
13 |
76,058,971 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3684:Rhobtb3
|
UTSW |
13 |
76,087,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Rhobtb3
|
UTSW |
13 |
76,027,051 (GRCm39) |
nonsense |
probably null |
|
|
R5060:Rhobtb3
|
UTSW |
13 |
76,061,389 (GRCm39) |
missense |
probably benign |
|
|
R5374:Rhobtb3
|
UTSW |
13 |
76,027,014 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5688:Rhobtb3
|
UTSW |
13 |
76,020,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6181:Rhobtb3
|
UTSW |
13 |
76,058,808 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6235:Rhobtb3
|
UTSW |
13 |
76,041,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6947:Rhobtb3
|
UTSW |
13 |
76,058,785 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7032:Rhobtb3
|
UTSW |
13 |
76,020,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7039:Rhobtb3
|
UTSW |
13 |
76,020,572 (GRCm39) |
nonsense |
probably null |
|
|
R7148:Rhobtb3
|
UTSW |
13 |
76,059,006 (GRCm39) |
missense |
probably benign |
|
|
R7449:Rhobtb3
|
UTSW |
13 |
76,058,860 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7508:Rhobtb3
|
UTSW |
13 |
76,026,976 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7598:Rhobtb3
|
UTSW |
13 |
76,059,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7691:Rhobtb3
|
UTSW |
13 |
76,027,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7770:Rhobtb3
|
UTSW |
13 |
76,065,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8465:Rhobtb3
|
UTSW |
13 |
76,087,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Rhobtb3
|
UTSW |
13 |
76,087,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Rhobtb3
|
UTSW |
13 |
76,020,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Rhobtb3
|
UTSW |
13 |
76,041,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation