Incidental Mutation 'R7928:Rhbdf1'
ID |
643429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhbdf1
|
Ensembl Gene |
ENSMUSG00000020282 |
Gene Name |
rhomboid 5 homolog 1 |
Synonyms |
Dist, Egfr-rs, Dist1 |
MMRRC Submission |
045975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R7928 (G1)
|
Quality Score |
999 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
32159585-32172300 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32159898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 826
(Y826C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020524]
[ENSMUST00000039601]
[ENSMUST00000121182]
[ENSMUST00000132578]
[ENSMUST00000143988]
[ENSMUST00000146179]
[ENSMUST00000149043]
|
AlphaFold |
Q6PIX5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020524
AA Change: Y826C
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000020524 Gene: ENSMUSG00000020282 AA Change: Y826C
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 |
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 |
possibly damaging
Transcript: ENSMUST00000143988
AA Change: Y201C
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117471 Gene: ENSMUSG00000020282 AA Change: Y201C
Domain | Start | End | E-Value | Type |
Pfam:Rhomboid
|
52 |
167 |
1.6e-24 |
PFAM |
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
|
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 |
|
Meta Mutation Damage Score |
0.1885 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
97% (30/31) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
Zfp950 |
G |
T |
19: 61,107,938 (GRCm39) |
P382T |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
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 |
R3032:Rhbdf1
|
UTSW |
11 |
32,159,985 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ACTAAATGCCCAGCAGTGTAAG -3'
(R):5'- TGCCCTGGATCGACAACTTC -3'
Sequencing Primer
(F):5'- TGCCCAGCAGTGTAAGCGTAC -3'
(R):5'- AACTTCGCCCACATCTCGGG -3'
|
Posted On |
2020-08-07 |