Incidental Mutation 'IGL01464:Rhbdf2'
ID |
88063 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rhbdf2
|
Ensembl Gene |
ENSMUSG00000020806 |
Gene Name |
rhomboid 5 homolog 2 |
Synonyms |
cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01464
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
116488991-116517786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116491734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 574
(G574S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021160]
[ENSMUST00000103028]
[ENSMUST00000103029]
[ENSMUST00000123507]
[ENSMUST00000153476]
|
AlphaFold |
Q80WQ6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021160
|
SMART Domains |
Protein: ENSMUSP00000021160 Gene: ENSMUSG00000020804
Domain | Start | End | E-Value | Type |
PDB:1KUY|A
|
3 |
104 |
1e-50 |
PDB |
SCOP:d1cjwa_
|
28 |
103 |
4e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103028
AA Change: G574S
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099317 Gene: ENSMUSG00000020806 AA Change: G574S
Domain | Start | End | E-Value | Type |
Pfam:Rhomboid_SP
|
98 |
306 |
1.8e-98 |
PFAM |
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
Pfam:Rhomboid
|
619 |
763 |
4.6e-31 |
PFAM |
transmembrane domain
|
775 |
797 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103029
AA Change: G574S
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099318 Gene: ENSMUSG00000020806 AA Change: G574S
Domain | Start | End | E-Value | Type |
Pfam:Rhomboid_SP
|
98 |
304 |
4.7e-97 |
PFAM |
transmembrane domain
|
376 |
398 |
N/A |
INTRINSIC |
Pfam:Rhomboid
|
619 |
763 |
8.1e-31 |
PFAM |
transmembrane domain
|
775 |
797 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123507
|
SMART Domains |
Protein: ENSMUSP00000115999 Gene: ENSMUSG00000020804
Domain | Start | End | E-Value | Type |
PDB:1IB1|H
|
3 |
53 |
6e-16 |
PDB |
SCOP:d1cjwa_
|
28 |
59 |
1e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126819
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132601
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153476
|
SMART Domains |
Protein: ENSMUSP00000122895 Gene: ENSMUSG00000020804
Domain | Start | End | E-Value | Type |
Pfam:Acetyltransf_1
|
82 |
172 |
4.1e-14 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality. [provided by MGI curators]
|
Allele List at MGI |
All alleles(34) : Targeted(4) Gene trapped(30)
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
Calb1 |
T |
A |
4: 15,881,485 (GRCm39) |
|
probably benign |
Het |
Ccdc121rt3 |
A |
G |
5: 112,503,399 (GRCm39) |
S102P |
possibly damaging |
Het |
Cd86 |
T |
C |
16: 36,441,315 (GRCm39) |
S51G |
probably benign |
Het |
Ctsll3 |
C |
T |
13: 60,948,134 (GRCm39) |
G181D |
probably damaging |
Het |
Elmod2 |
G |
A |
8: 84,043,421 (GRCm39) |
|
probably benign |
Het |
Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
Het |
|
Other mutations in Rhbdf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01069:Rhbdf2
|
APN |
11 |
116,492,577 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02060:Rhbdf2
|
APN |
11 |
116,491,452 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02211:Rhbdf2
|
APN |
11 |
116,491,261 (GRCm39) |
missense |
possibly damaging |
0.49 |
Lostnf
|
UTSW |
11 |
116,490,987 (GRCm39) |
missense |
probably damaging |
1.00 |
Lostnf2
|
UTSW |
11 |
116,491,017 (GRCm39) |
missense |
possibly damaging |
0.94 |
sinecure
|
UTSW |
11 |
116,493,086 (GRCm39) |
missense |
probably damaging |
0.99 |
Trapezoid
|
UTSW |
11 |
116,491,974 (GRCm39) |
missense |
probably damaging |
0.96 |
R0131:Rhbdf2
|
UTSW |
11 |
116,496,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R0399:Rhbdf2
|
UTSW |
11 |
116,494,818 (GRCm39) |
missense |
probably benign |
0.00 |
R0739:Rhbdf2
|
UTSW |
11 |
116,490,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1756:Rhbdf2
|
UTSW |
11 |
116,498,092 (GRCm39) |
missense |
probably benign |
|
R1839:Rhbdf2
|
UTSW |
11 |
116,491,017 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2029:Rhbdf2
|
UTSW |
11 |
116,491,974 (GRCm39) |
missense |
probably damaging |
0.96 |
R3833:Rhbdf2
|
UTSW |
11 |
116,495,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R4330:Rhbdf2
|
UTSW |
11 |
116,492,782 (GRCm39) |
missense |
probably benign |
|
R4331:Rhbdf2
|
UTSW |
11 |
116,493,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Rhbdf2
|
UTSW |
11 |
116,492,771 (GRCm39) |
missense |
probably benign |
0.04 |
R5530:Rhbdf2
|
UTSW |
11 |
116,491,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R5625:Rhbdf2
|
UTSW |
11 |
116,496,203 (GRCm39) |
missense |
probably damaging |
0.99 |
R5841:Rhbdf2
|
UTSW |
11 |
116,493,180 (GRCm39) |
unclassified |
probably benign |
|
R6579:Rhbdf2
|
UTSW |
11 |
116,495,289 (GRCm39) |
missense |
probably benign |
0.02 |
R7047:Rhbdf2
|
UTSW |
11 |
116,494,477 (GRCm39) |
critical splice donor site |
probably null |
|
R7403:Rhbdf2
|
UTSW |
11 |
116,491,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R7743:Rhbdf2
|
UTSW |
11 |
116,494,775 (GRCm39) |
missense |
probably benign |
|
R7743:Rhbdf2
|
UTSW |
11 |
116,492,427 (GRCm39) |
missense |
probably benign |
0.04 |
R7855:Rhbdf2
|
UTSW |
11 |
116,493,066 (GRCm39) |
nonsense |
probably null |
|
R8055:Rhbdf2
|
UTSW |
11 |
116,498,191 (GRCm39) |
missense |
probably benign |
0.01 |
R8700:Rhbdf2
|
UTSW |
11 |
116,498,230 (GRCm39) |
start gained |
probably benign |
|
R9052:Rhbdf2
|
UTSW |
11 |
116,494,758 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Rhbdf2
|
UTSW |
11 |
116,489,919 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-11-18 |