Incidental Mutation 'IGL01069:Rhbdf2'
| ID |
52219 |
| 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 # |
IGL01069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116488991-116517786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116492577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 437
(D437G)
|
| 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: D437G
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: D437G
| 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: D437G
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: D437G
| 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: 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 1700123K08Rik |
C |
T |
5: 138,560,751 (GRCm39) |
A215T |
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Apc2 |
G |
A |
10: 80,147,820 (GRCm39) |
C929Y |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,199 (GRCm39) |
H1156R |
probably benign |
Het |
| Arhgap9 |
A |
G |
10: 127,164,821 (GRCm39) |
T582A |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,752,085 (GRCm39) |
H832L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,818,206 (GRCm39) |
S92P |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,252,172 (GRCm39) |
|
probably null |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,508,215 (GRCm39) |
D225E |
probably damaging |
Het |
| Cpne8 |
C |
T |
15: 90,499,313 (GRCm39) |
|
probably null |
Het |
| Cux2 |
G |
A |
5: 122,005,414 (GRCm39) |
T924M |
possibly damaging |
Het |
| Dtl |
T |
A |
1: 191,293,651 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,176,767 (GRCm39) |
I1912N |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,613,766 (GRCm39) |
F369I |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,711,531 (GRCm39) |
E298G |
probably benign |
Het |
| Focad |
C |
A |
4: 88,244,383 (GRCm39) |
H788N |
unknown |
Het |
| Frem1 |
C |
T |
4: 82,932,104 (GRCm39) |
R199H |
probably benign |
Het |
| Gadl1 |
T |
C |
9: 115,783,907 (GRCm39) |
|
probably null |
Het |
| Hipk1 |
G |
A |
3: 103,685,015 (GRCm39) |
T200I |
possibly damaging |
Het |
| Ighv14-2 |
C |
T |
12: 113,958,379 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank4 |
A |
T |
4: 98,666,632 (GRCm39) |
I605N |
probably damaging |
Het |
| Krt88 |
T |
G |
15: 101,351,508 (GRCm39) |
*172G |
probably null |
Het |
| Lmf2 |
C |
A |
15: 89,237,091 (GRCm39) |
A408S |
probably benign |
Het |
| Lsm12 |
T |
C |
11: 102,054,896 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,075,735 (GRCm39) |
I580V |
probably benign |
Het |
| Myt1 |
T |
C |
2: 181,467,749 (GRCm39) |
M1061T |
probably damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or1ad1 |
A |
T |
11: 50,875,830 (GRCm39) |
I101F |
possibly damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,891 (GRCm39) |
Y257C |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,902 (GRCm39) |
M268L |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,918 (GRCm39) |
R362G |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,157,078 (GRCm39) |
T747K |
probably damaging |
Het |
| Rgma |
G |
A |
7: 73,067,239 (GRCm39) |
A165T |
probably damaging |
Het |
| Rpl5 |
T |
C |
5: 108,055,145 (GRCm39) |
|
probably null |
Het |
| Rtkn2 |
A |
G |
10: 67,877,494 (GRCm39) |
D518G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,696,426 (GRCm39) |
|
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,854,375 (GRCm39) |
V616I |
possibly damaging |
Het |
| Ska2 |
A |
G |
11: 87,000,091 (GRCm39) |
|
probably benign |
Het |
| Slc13a4 |
C |
A |
6: 35,245,817 (GRCm39) |
L609F |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,428,604 (GRCm39) |
E390G |
probably damaging |
Het |
| Syt15 |
T |
C |
14: 33,946,881 (GRCm39) |
V220A |
possibly damaging |
Het |
| Tob1 |
T |
C |
11: 94,104,881 (GRCm39) |
F139S |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
|
| Other mutations in Rhbdf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation