Incidental Mutation 'R3032:Rhbdf1'
| ID |
264754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbdf1
|
| Ensembl Gene |
ENSMUSG00000020282 |
| Gene Name |
rhomboid 5 homolog 1 |
| Synonyms |
Dist, Egfr-rs, Dist1 |
| MMRRC Submission |
040548-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R3032 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
32159585-32172300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32159985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 172
(D172G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020524]
[ENSMUST00000039601]
[ENSMUST00000121182]
[ENSMUST00000132578]
[ENSMUST00000143988]
[ENSMUST00000146179]
[ENSMUST00000149043]
|
| AlphaFold |
Q6PIX5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020524
AA Change: D797G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: D797G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid_SP
|
91 |
308 |
1.6e-116 |
PFAM |
|
Pfam:Rhomboid
|
648 |
792 |
2.1e-32 |
PFAM |
|
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039601
|
| SMART Domains |
Protein: ENSMUSP00000046654
Gene: ENSMUSG00000040767
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V2Y|A
|
31 |
123 |
4e-63 |
PDB |
|
Blast:UBQ
|
32 |
119 |
1e-30 |
BLAST |
|
SCOP:d1euvb_
|
32 |
121 |
3e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121182
|
| SMART Domains |
Protein: ENSMUSP00000112483
Gene: ENSMUSG00000040767
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V2Y|A
|
31 |
83 |
4e-28 |
PDB |
|
Blast:UBQ
|
32 |
83 |
2e-11 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125837
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132578
|
| SMART Domains |
Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid_SP
|
91 |
158 |
7.9e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143036
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143988
AA Change: D172G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117471
Gene: ENSMUSG00000020282
AA Change: D172G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rhomboid
|
52 |
167 |
1.6e-24 |
PFAM |
|
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146179
|
| SMART Domains |
Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid_SP
|
91 |
155 |
7.1e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149043
|
| SMART Domains |
Protein: ENSMUSP00000119306
Gene: ENSMUSG00000040767
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1V2Y|A
|
31 |
96 |
1e-40 |
PDB |
|
Blast:UBQ
|
32 |
96 |
3e-15 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
T |
14: 8,253,466 (GRCm38) |
L227Q |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,152 (GRCm39) |
N315D |
probably benign |
Het |
| Eps8 |
A |
T |
6: 137,489,175 (GRCm39) |
S408T |
probably damaging |
Het |
| F13b |
A |
C |
1: 139,445,071 (GRCm39) |
T574P |
probably damaging |
Het |
| Fgfrl1 |
A |
G |
5: 108,853,926 (GRCm39) |
I344M |
probably benign |
Het |
| Or5b21 |
G |
A |
19: 12,839,282 (GRCm39) |
V48I |
probably benign |
Het |
| Park7 |
T |
C |
4: 150,985,509 (GRCm39) |
K122R |
probably benign |
Het |
| Psg18 |
G |
A |
7: 18,084,904 (GRCm39) |
S64L |
probably benign |
Het |
| Serpinb6b |
G |
A |
13: 33,152,551 (GRCm39) |
G20D |
possibly damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,669,059 (GRCm39) |
Y65N |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,551,526 (GRCm39) |
N285S |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,208,502 (GRCm39) |
R849Q |
probably benign |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
|
| Other mutations in Rhbdf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Rhbdf1
|
APN |
11 |
32,163,484 (GRCm39) |
missense |
probably benign |
|
|
IGL02183:Rhbdf1
|
APN |
11 |
32,160,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02793:Rhbdf1
|
APN |
11 |
32,163,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02875:Rhbdf1
|
APN |
11 |
32,163,293 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB005:Rhbdf1
|
UTSW |
11 |
32,159,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB015:Rhbdf1
|
UTSW |
11 |
32,159,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
FR4589:Rhbdf1
|
UTSW |
11 |
32,164,391 (GRCm39) |
unclassified |
probably benign |
|
|
R0071:Rhbdf1
|
UTSW |
11 |
32,160,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Rhbdf1
|
UTSW |
11 |
32,160,042 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0512:Rhbdf1
|
UTSW |
11 |
32,160,875 (GRCm39) |
nonsense |
probably null |
|
|
R0843:Rhbdf1
|
UTSW |
11 |
32,165,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0880:Rhbdf1
|
UTSW |
11 |
32,163,432 (GRCm39) |
splice site |
probably null |
|
|
R1952:Rhbdf1
|
UTSW |
11 |
32,164,277 (GRCm39) |
nonsense |
probably null |
|
|
R2017:Rhbdf1
|
UTSW |
11 |
32,160,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Rhbdf1
|
UTSW |
11 |
32,164,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4355:Rhbdf1
|
UTSW |
11 |
32,166,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Rhbdf1
|
UTSW |
11 |
32,163,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4865:Rhbdf1
|
UTSW |
11 |
32,164,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Rhbdf1
|
UTSW |
11 |
32,160,222 (GRCm39) |
splice site |
probably null |
|
|
R5728:Rhbdf1
|
UTSW |
11 |
32,159,901 (GRCm39) |
splice site |
probably null |
|
|
R5925:Rhbdf1
|
UTSW |
11 |
32,162,906 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5940:Rhbdf1
|
UTSW |
11 |
32,159,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6083:Rhbdf1
|
UTSW |
11 |
32,160,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Rhbdf1
|
UTSW |
11 |
32,162,007 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6361:Rhbdf1
|
UTSW |
11 |
32,162,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6692:Rhbdf1
|
UTSW |
11 |
32,165,652 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6727:Rhbdf1
|
UTSW |
11 |
32,164,042 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6825:Rhbdf1
|
UTSW |
11 |
32,159,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Rhbdf1
|
UTSW |
11 |
32,162,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7928:Rhbdf1
|
UTSW |
11 |
32,159,898 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7940:Rhbdf1
|
UTSW |
11 |
32,166,258 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
|
R7957:Rhbdf1
|
UTSW |
11 |
32,160,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Rhbdf1
|
UTSW |
11 |
32,164,563 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8490:Rhbdf1
|
UTSW |
11 |
32,160,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8939:Rhbdf1
|
UTSW |
11 |
32,160,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9040:Rhbdf1
|
UTSW |
11 |
32,163,063 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9257:Rhbdf1
|
UTSW |
11 |
32,160,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Rhbdf1
|
UTSW |
11 |
32,165,055 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9575:Rhbdf1
|
UTSW |
11 |
32,163,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9654:Rhbdf1
|
UTSW |
11 |
32,166,028 (GRCm39) |
missense |
probably benign |
|
|
V3553:Rhbdf1
|
UTSW |
11 |
32,161,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rhbdf1
|
UTSW |
11 |
32,165,125 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGCACCCATCTGTTCAG -3'
(R):5'- CAGCCTCAGTAGCTTAGAGC -3'
Sequencing Primer
(F):5'- ATCTGTTCAGCCCTGGGAG -3'
(R):5'- CCAGTTTGGCATCCTGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation