Incidental Mutation 'R5530:Rhbdf2'
ID |
433654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhbdf2
|
Ensembl Gene |
ENSMUSG00000020806 |
Gene Name |
rhomboid 5 homolog 2 |
Synonyms |
cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv |
MMRRC Submission |
043088-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5530 (G1)
|
Quality Score |
176 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
116488991-116517786 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116491488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 586
(Y586C)
|
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: Y586C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099317 Gene: ENSMUSG00000020806 AA Change: Y586C
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: Y586C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099318 Gene: ENSMUSG00000020806 AA Change: Y586C
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 |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
Myo1b |
T |
A |
1: 51,836,582 (GRCm39) |
N293I |
probably damaging |
Het |
Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
Nrdc |
C |
T |
4: 108,904,806 (GRCm39) |
T747M |
probably damaging |
Het |
Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
Rad21l |
A |
T |
2: 151,499,430 (GRCm39) |
I257K |
probably benign |
Het |
Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,031,393 (GRCm39) |
D1005G |
probably damaging |
Het |
Wdr19 |
T |
C |
5: 65,385,562 (GRCm39) |
S555P |
probably benign |
Het |
Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCCGGTAGAACTGGTCAGG -3'
(R):5'- GGACCTCTGTGACTGTCTTC -3'
Sequencing Primer
(F):5'- CTTGTCTAAACAGTGCACCTGGG -3'
(R):5'- GGACCTCTGTGACTGTCTTCTGTTC -3'
|
Posted On |
2016-10-06 |