Incidental Mutation 'IGL02060:Rhbdf2'
| ID |
185361 |
| 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 # |
IGL02060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
116488991-116517786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 116491452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 598
(A598E)
|
| 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 damaging
Transcript: ENSMUST00000103028
AA Change: A598E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: A598E
| 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 damaging
Transcript: ENSMUST00000103029
AA Change: A598E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: A598E
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,603 (GRCm39) |
I178F |
probably damaging |
Het |
| Aff1 |
T |
C |
5: 103,931,715 (GRCm39) |
V111A |
possibly damaging |
Het |
| Aox1 |
T |
G |
1: 58,137,114 (GRCm39) |
I1168R |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,646,989 (GRCm39) |
R295G |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,164,328 (GRCm39) |
|
probably benign |
Het |
| Cse1l |
A |
T |
2: 166,772,573 (GRCm39) |
L413F |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,672,666 (GRCm39) |
V1024A |
probably damaging |
Het |
| Fam13c |
A |
T |
10: 70,388,971 (GRCm39) |
E498V |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,420 (GRCm39) |
E4792G |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,996 (GRCm39) |
L151* |
probably null |
Het |
| Igbp1b |
G |
T |
6: 138,634,982 (GRCm39) |
A154E |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,490,500 (GRCm39) |
K277R |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,249,688 (GRCm39) |
Y199C |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,563 (GRCm39) |
T65A |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,266 (GRCm39) |
Y85C |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,117,700 (GRCm39) |
A887T |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,907 (GRCm39) |
F12Y |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,824 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
G |
T |
7: 107,665,878 (GRCm39) |
F42L |
probably benign |
Het |
| Or9g4 |
C |
T |
2: 85,505,178 (GRCm39) |
V106I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,469 (GRCm39) |
T420A |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,546 (GRCm39) |
V646A |
probably benign |
Het |
| Prkg2 |
A |
G |
5: 99,172,374 (GRCm39) |
S114P |
probably benign |
Het |
| Rela |
G |
T |
19: 5,688,628 (GRCm39) |
K28N |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,762,450 (GRCm39) |
D1454N |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,938,767 (GRCm39) |
L397F |
possibly damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,361,817 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,795,453 (GRCm39) |
V518E |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,700,134 (GRCm39) |
M133L |
probably benign |
Het |
| Snapc1 |
A |
G |
12: 74,014,810 (GRCm39) |
Y105C |
probably damaging |
Het |
| Sult2a8 |
A |
G |
7: 14,159,326 (GRCm39) |
S98P |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,111,261 (GRCm39) |
M4L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,321 (GRCm39) |
I654V |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,315,237 (GRCm39) |
S133G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,516 (GRCm39) |
N76S |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,330,634 (GRCm39) |
S910G |
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 |
|
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 |
2014-05-07 |
Incidental Mutation