Incidental Mutation 'IGL02211:Rhbdf2'
| ID |
284723 |
| 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 # |
IGL02211
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116488991-116517786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116491261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 625
(F625L)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000103028
AA Change: F625L
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: F625L
| 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 |
possibly damaging
Transcript: ENSMUST00000103029
AA Change: F625L
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: F625L
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoc3 |
C |
A |
9: 46,144,513 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
C |
T |
14: 60,265,425 (GRCm39) |
G304R |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cct4 |
A |
G |
11: 22,943,327 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
T |
C |
1: 60,802,153 (GRCm39) |
V24A |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,445,040 (GRCm39) |
N1080S |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,665,861 (GRCm39) |
I59K |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,196,610 (GRCm39) |
S835P |
possibly damaging |
Het |
| Crim1 |
T |
C |
17: 78,662,574 (GRCm39) |
L799S |
probably damaging |
Het |
| Cxcl16 |
T |
C |
11: 70,346,858 (GRCm39) |
H95R |
possibly damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,883 (GRCm39) |
C915S |
probably damaging |
Het |
| Dytn |
T |
A |
1: 63,714,089 (GRCm39) |
N137Y |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,251,667 (GRCm39) |
Q628L |
probably damaging |
Het |
| Flii |
A |
G |
11: 60,609,124 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,853,121 (GRCm39) |
|
probably benign |
Het |
| Iqsec1 |
A |
G |
6: 90,648,591 (GRCm39) |
L830P |
probably damaging |
Het |
| Kank1 |
G |
T |
19: 25,407,702 (GRCm39) |
G1232V |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,252,483 (GRCm39) |
E228G |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,491 (GRCm39) |
V538E |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,655,071 (GRCm39) |
I393K |
probably damaging |
Het |
| Mtmr1 |
A |
G |
X: 70,455,863 (GRCm39) |
D574G |
possibly damaging |
Het |
| Nr1h2 |
A |
C |
7: 44,199,884 (GRCm39) |
M345R |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,937 (GRCm39) |
H15R |
probably damaging |
Het |
| Or2ak4 |
G |
T |
11: 58,649,196 (GRCm39) |
S235I |
possibly damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,333 (GRCm39) |
K302* |
probably null |
Het |
| Pde4b |
T |
G |
4: 102,448,019 (GRCm39) |
|
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Ptges3 |
T |
C |
10: 127,911,927 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,064 (GRCm39) |
S1595P |
probably benign |
Het |
| Rhpn1 |
T |
C |
15: 75,582,905 (GRCm39) |
S281P |
possibly damaging |
Het |
| Samd3 |
G |
T |
10: 26,109,455 (GRCm39) |
G128W |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,443,629 (GRCm39) |
K51E |
probably damaging |
Het |
| Serpina7 |
G |
A |
X: 137,982,062 (GRCm39) |
T185I |
probably damaging |
Het |
| Slc25a25 |
A |
G |
2: 32,307,452 (GRCm39) |
V303A |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,896,297 (GRCm39) |
|
probably benign |
Het |
| Srpk3 |
A |
T |
X: 72,818,754 (GRCm39) |
H114L |
probably benign |
Het |
| Sybu |
T |
G |
15: 44,536,862 (GRCm39) |
Q360P |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,630 (GRCm39) |
I274F |
probably benign |
Het |
| Wdsub1 |
G |
T |
2: 59,689,080 (GRCm39) |
R381S |
probably damaging |
Het |
| Wscd1 |
G |
A |
11: 71,679,801 (GRCm39) |
R558H |
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 |
|
IGL01464:Rhbdf2
|
APN |
11 |
116,491,734 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02060:Rhbdf2
|
APN |
11 |
116,491,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation