Incidental Mutation 'R4355:Rhbdf1'
| ID |
327504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbdf1
|
| Ensembl Gene |
ENSMUSG00000020282 |
| Gene Name |
rhomboid 5 homolog 1 |
| Synonyms |
Dist, Dist1, Egfr-rs |
| MMRRC Submission |
041108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R4355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
32209585-32222300 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32216236 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 8
(S8N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020524]
[ENSMUST00000132578]
[ENSMUST00000144902]
[ENSMUST00000146179]
[ENSMUST00000150381]
|
| AlphaFold |
Q6PIX5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020524
AA Change: S8N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020524
Gene: ENSMUSG00000020282
AA Change: S8N
| 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 damaging
Transcript: ENSMUST00000132578
AA Change: S8N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120543
Gene: ENSMUSG00000020282
AA Change: S8N
| 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: ENSMUST00000143036
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144902
AA Change: S8N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122533
Gene: ENSMUSG00000020282
AA Change: S8N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146179
AA Change: S8N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118985
Gene: ENSMUSG00000020282
AA Change: S8N
| 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 damaging
Transcript: ENSMUST00000150381
AA Change: S8N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118769
Gene: ENSMUSG00000020282
AA Change: S8N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
35 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0922 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
G |
8: 43,570,185 (GRCm38) |
Q89H |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,543,662 (GRCm38) |
F697S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,839,152 (GRCm38) |
V769E |
probably damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,548,494 (GRCm38) |
F173L |
probably null |
Het |
| Arntl |
A |
G |
7: 113,303,406 (GRCm38) |
I421V |
possibly damaging |
Het |
| Bcl3 |
G |
T |
7: 19,811,580 (GRCm38) |
C208* |
probably null |
Het |
| Casz1 |
T |
C |
4: 148,952,335 (GRCm38) |
S1685P |
unknown |
Het |
| Cep250 |
A |
G |
2: 155,991,525 (GRCm38) |
E1789G |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,626,640 (GRCm38) |
D334E |
probably benign |
Het |
| Clca3b |
A |
T |
3: 144,825,458 (GRCm38) |
|
probably null |
Het |
| Col9a3 |
A |
G |
2: 180,606,478 (GRCm38) |
S208G |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 135,021,505 (GRCm38) |
V388A |
probably benign |
Het |
| Dync1h1 |
C |
T |
12: 110,632,899 (GRCm38) |
A1896V |
possibly damaging |
Het |
| Eif2ak2 |
T |
A |
17: 78,858,534 (GRCm38) |
R411S |
probably benign |
Het |
| F7 |
A |
G |
8: 13,034,774 (GRCm38) |
T267A |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,700,242 (GRCm38) |
D1770E |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,365,337 (GRCm38) |
Y387N |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,529,418 (GRCm38) |
L1491F |
probably damaging |
Het |
| Ighv3-4 |
T |
C |
12: 114,253,640 (GRCm38) |
I110M |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,844,997 (GRCm38) |
C28S |
probably damaging |
Het |
| Kbtbd11 |
C |
A |
8: 15,028,578 (GRCm38) |
N392K |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,473,284 (GRCm38) |
S80P |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,970,833 (GRCm38) |
C721Y |
probably benign |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Klrc3 |
T |
C |
6: 129,639,162 (GRCm38) |
M189V |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,475,091 (GRCm38) |
E394V |
possibly damaging |
Het |
| Mrgprb4 |
C |
T |
7: 48,198,701 (GRCm38) |
G160R |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,152,617 (GRCm38) |
S116P |
probably damaging |
Het |
| Nf2 |
G |
A |
11: 4,780,613 (GRCm38) |
Q513* |
probably null |
Het |
| Nmnat3 |
C |
T |
9: 98,410,152 (GRCm38) |
T150M |
possibly damaging |
Het |
| Olfr361 |
C |
A |
2: 37,084,930 (GRCm38) |
V273F |
probably benign |
Het |
| Olfr743 |
T |
C |
14: 50,533,759 (GRCm38) |
C116R |
possibly damaging |
Het |
| Patj |
T |
G |
4: 98,650,454 (GRCm38) |
C210W |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,416,287 (GRCm38) |
H246R |
probably benign |
Het |
| Pnp2 |
A |
G |
14: 50,959,625 (GRCm38) |
H56R |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,569,229 (GRCm38) |
|
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,209,692 (GRCm38) |
K327E |
possibly damaging |
Het |
| Rnf219 |
A |
G |
14: 104,479,257 (GRCm38) |
V560A |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 19,067,078 (GRCm38) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,649,812 (GRCm38) |
N3535S |
probably benign |
Het |
| Ssfa2 |
A |
G |
2: 79,641,998 (GRCm38) |
N132S |
probably benign |
Het |
| Ston1 |
T |
G |
17: 88,637,008 (GRCm38) |
V614G |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,138,695 (GRCm38) |
T466S |
possibly damaging |
Het |
| Tas2r109 |
A |
T |
6: 132,980,181 (GRCm38) |
I262N |
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,355,098 (GRCm38) |
|
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,884,938 (GRCm38) |
E16K |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 45,985,465 (GRCm38) |
S193R |
possibly damaging |
Het |
| Ugt2b5 |
C |
A |
5: 87,139,763 (GRCm38) |
E182* |
probably null |
Het |
| Usp43 |
A |
G |
11: 67,891,464 (GRCm38) |
V376A |
probably benign |
Het |
| Utp15 |
A |
T |
13: 98,259,247 (GRCm38) |
F76I |
possibly damaging |
Het |
| Wdr62 |
A |
C |
7: 30,242,248 (GRCm38) |
L1141R |
probably damaging |
Het |
| Zfp418 |
T |
A |
7: 7,172,162 (GRCm38) |
M18K |
probably benign |
Het |
|
| Other mutations in Rhbdf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Rhbdf1
|
APN |
11 |
32,213,484 (GRCm38) |
missense |
probably benign |
|
|
IGL02183:Rhbdf1
|
APN |
11 |
32,210,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02793:Rhbdf1
|
APN |
11 |
32,213,293 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02875:Rhbdf1
|
APN |
11 |
32,213,293 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
BB005:Rhbdf1
|
UTSW |
11 |
32,209,898 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
BB015:Rhbdf1
|
UTSW |
11 |
32,209,898 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
FR4589:Rhbdf1
|
UTSW |
11 |
32,214,391 (GRCm38) |
unclassified |
probably benign |
|
|
R0071:Rhbdf1
|
UTSW |
11 |
32,210,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0180:Rhbdf1
|
UTSW |
11 |
32,210,042 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R0512:Rhbdf1
|
UTSW |
11 |
32,210,875 (GRCm38) |
nonsense |
probably null |
|
|
R0843:Rhbdf1
|
UTSW |
11 |
32,215,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0880:Rhbdf1
|
UTSW |
11 |
32,213,432 (GRCm38) |
splice site |
probably null |
|
|
R1952:Rhbdf1
|
UTSW |
11 |
32,214,277 (GRCm38) |
nonsense |
probably null |
|
|
R2017:Rhbdf1
|
UTSW |
11 |
32,210,471 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2076:Rhbdf1
|
UTSW |
11 |
32,214,088 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3032:Rhbdf1
|
UTSW |
11 |
32,209,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4429:Rhbdf1
|
UTSW |
11 |
32,213,369 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4865:Rhbdf1
|
UTSW |
11 |
32,214,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5585:Rhbdf1
|
UTSW |
11 |
32,210,222 (GRCm38) |
splice site |
probably null |
|
|
R5728:Rhbdf1
|
UTSW |
11 |
32,209,901 (GRCm38) |
splice site |
probably null |
|
|
R5925:Rhbdf1
|
UTSW |
11 |
32,212,906 (GRCm38) |
missense |
probably benign |
0.24 |
|
R5940:Rhbdf1
|
UTSW |
11 |
32,209,847 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6083:Rhbdf1
|
UTSW |
11 |
32,210,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6088:Rhbdf1
|
UTSW |
11 |
32,212,007 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6361:Rhbdf1
|
UTSW |
11 |
32,212,915 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6692:Rhbdf1
|
UTSW |
11 |
32,215,652 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6727:Rhbdf1
|
UTSW |
11 |
32,214,042 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6825:Rhbdf1
|
UTSW |
11 |
32,209,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7589:Rhbdf1
|
UTSW |
11 |
32,212,903 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7928:Rhbdf1
|
UTSW |
11 |
32,209,898 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7940:Rhbdf1
|
UTSW |
11 |
32,216,258 (GRCm38) |
start codon destroyed |
possibly damaging |
0.79 |
|
R7957:Rhbdf1
|
UTSW |
11 |
32,210,523 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8220:Rhbdf1
|
UTSW |
11 |
32,214,563 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8490:Rhbdf1
|
UTSW |
11 |
32,210,162 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8939:Rhbdf1
|
UTSW |
11 |
32,210,093 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9040:Rhbdf1
|
UTSW |
11 |
32,213,063 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9257:Rhbdf1
|
UTSW |
11 |
32,210,754 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9509:Rhbdf1
|
UTSW |
11 |
32,215,055 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9575:Rhbdf1
|
UTSW |
11 |
32,213,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9654:Rhbdf1
|
UTSW |
11 |
32,216,028 (GRCm38) |
missense |
probably benign |
|
|
V3553:Rhbdf1
|
UTSW |
11 |
32,211,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Rhbdf1
|
UTSW |
11 |
32,215,125 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTGGCATACTCACAC -3'
(R):5'- AGGATCTGTGGAGTTCAGGC -3'
Sequencing Primer
(F):5'- TCCGCAAGAAAGCCTGTCG -3'
(R):5'- TGTGGAGTTCAGGCCCAGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation