Incidental Mutation 'R8055:Rhbdf2'
| ID |
619335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbdf2
|
| Ensembl Gene |
ENSMUSG00000020806 |
| Gene Name |
rhomboid 5 homolog 2 |
| Synonyms |
cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv |
| MMRRC Submission |
067492-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8055 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116488991-116517786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 116498191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 3
(S3A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103028]
[ENSMUST00000103029]
|
| AlphaFold |
Q80WQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103028
AA Change: S3A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: S3A
| 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: S3A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: S3A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
C |
A |
3: 92,336,139 (GRCm39) |
G188W |
unknown |
Het |
| Ahcyl1 |
A |
T |
3: 107,576,047 (GRCm39) |
D353E |
probably benign |
Het |
| Alk |
G |
T |
17: 72,206,252 (GRCm39) |
P1033T |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,556,565 (GRCm39) |
C20F |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,913 (GRCm39) |
N51S |
possibly damaging |
Het |
| Ccser1 |
G |
A |
6: 61,290,757 (GRCm39) |
V480M |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,244,905 (GRCm39) |
N1184D |
probably benign |
Het |
| Cers6 |
C |
T |
2: 68,777,625 (GRCm39) |
R111W |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,615,273 (GRCm39) |
D204E |
probably damaging |
Het |
| Cxcl13 |
T |
C |
5: 96,107,763 (GRCm39) |
V73A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,032 (GRCm39) |
N593S |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,069,168 (GRCm39) |
N47K |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,636,015 (GRCm39) |
T46A |
probably benign |
Het |
| Gm15217 |
T |
C |
14: 46,616,911 (GRCm39) |
|
probably benign |
Het |
| Gnb5 |
G |
T |
9: 75,250,826 (GRCm39) |
A317S |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,722 (GRCm39) |
V304A |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,633,424 (GRCm39) |
C209* |
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,732,378 (GRCm39) |
N2646K |
unknown |
Het |
| Krt14 |
C |
G |
11: 100,095,584 (GRCm39) |
V274L |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,612,186 (GRCm39) |
D1277V |
unknown |
Het |
| Myo9a |
A |
T |
9: 59,814,743 (GRCm39) |
E2226D |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,120,255 (GRCm39) |
V631A |
possibly damaging |
Het |
| Piezo2 |
G |
A |
18: 63,175,882 (GRCm39) |
S1833L |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,138,359 (GRCm39) |
V203A |
probably benign |
Het |
| Primpol |
T |
C |
8: 47,032,197 (GRCm39) |
D459G |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,634,749 (GRCm39) |
R3631S |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,001 (GRCm39) |
T558A |
probably benign |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Het |
| Rdx |
G |
A |
9: 51,997,724 (GRCm39) |
R566Q |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,595,284 (GRCm39) |
I1319N |
probably benign |
Het |
| Sbno2 |
T |
A |
10: 79,905,265 (GRCm39) |
I206F |
possibly damaging |
Het |
| Scn1a |
A |
G |
2: 66,149,845 (GRCm39) |
V944A |
probably damaging |
Het |
| Scube1 |
C |
T |
15: 83,543,226 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
G |
A |
19: 6,021,439 (GRCm39) |
A521V |
probably benign |
Het |
| Slc6a4 |
C |
A |
11: 76,901,424 (GRCm39) |
T53K |
probably benign |
Het |
| Snapc2 |
G |
A |
8: 4,304,322 (GRCm39) |
R75Q |
probably damaging |
Het |
| Sptan1 |
A |
T |
2: 29,884,351 (GRCm39) |
K662I |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,298,438 (GRCm39) |
S55P |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,753 (GRCm39) |
V1503D |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,437,474 (GRCm39) |
N277K |
probably benign |
Het |
| Tlx3 |
A |
T |
11: 33,151,283 (GRCm39) |
V291E |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,747,327 (GRCm39) |
H101Q |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,495,343 (GRCm39) |
D70E |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,803,924 (GRCm39) |
G1938C |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,014,828 (GRCm39) |
L190P |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,541 (GRCm39) |
S641C |
possibly damaging |
Het |
| Wnt8b |
A |
G |
19: 44,481,952 (GRCm39) |
|
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 |
|
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 |
|
|
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'- ATGTTGAGGCTGCAGGACTG -3'
(R):5'- TCTAGCCACATCTCTCTGGAGC -3'
Sequencing Primer
(F):5'- CTGCAGGACTGTCAGTAGACTG -3'
(R):5'- ACATCTCTCTGGAGCTGGGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation