Incidental Mutation 'R5500:Rhbdl1'
| ID |
430582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbdl1
|
| Ensembl Gene |
ENSMUSG00000025735 |
| Gene Name |
rhomboid like 1 |
| Synonyms |
Rhbdl |
| MMRRC Submission |
043061-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5500 (G1)
|
| Quality Score |
129 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26053439-26056101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26055528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 20
(T20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000026832]
[ENSMUST00000043897]
[ENSMUST00000044911]
[ENSMUST00000133595]
[ENSMUST00000183929]
[ENSMUST00000184865]
|
| AlphaFold |
Q8VC82 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026831
AA Change: T20A
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735
AA Change: T20A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2mysb_
|
13 |
74 |
5e-7 |
SMART |
|
Blast:EFh
|
43 |
71 |
9e-11 |
BLAST |
|
transmembrane domain
|
129 |
151 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
174 |
331 |
6.7e-36 |
PFAM |
|
transmembrane domain
|
339 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026832
|
| SMART Domains |
Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
JmjC
|
140 |
271 |
5.27e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043897
|
| SMART Domains |
Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Roc
|
6 |
122 |
4.1e-11 |
PFAM |
|
Pfam:Ras
|
6 |
168 |
2.3e-18 |
PFAM |
|
EFh
|
188 |
216 |
1.27e1 |
SMART |
|
Pfam:EF_assoc_2
|
219 |
305 |
2.2e-35 |
PFAM |
|
EFh
|
308 |
336 |
1.23e-1 |
SMART |
|
Pfam:EF_assoc_1
|
341 |
412 |
1.8e-25 |
PFAM |
|
Blast:AAA
|
416 |
547 |
7e-18 |
BLAST |
|
SCOP:d1mh1__
|
422 |
532 |
4e-8 |
SMART |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044911
|
| SMART Domains |
Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
TPR
|
27 |
60 |
2.43e1 |
SMART |
|
TPR
|
61 |
94 |
1.48e-7 |
SMART |
|
TPR
|
95 |
128 |
4.52e-3 |
SMART |
|
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
|
Ubox
|
231 |
294 |
1.27e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133595
|
| SMART Domains |
Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
|
JmjC
|
185 |
316 |
5.27e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183929
AA Change: T20A
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
AA Change: T20A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2mysb_
|
13 |
74 |
9e-6 |
SMART |
|
Blast:EFh
|
43 |
70 |
2e-9 |
BLAST |
|
transmembrane domain
|
136 |
155 |
N/A |
INTRINSIC |
|
Pfam:Rhomboid
|
178 |
327 |
1e-27 |
PFAM |
|
transmembrane domain
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176751
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184865
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,508 (GRCm39) |
Q864L |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,650 (GRCm39) |
S16P |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,356,371 (GRCm39) |
Y262N |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,150,090 (GRCm39) |
D2583G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,403,485 (GRCm39) |
K303E |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,948,841 (GRCm39) |
|
probably null |
Het |
| Evi5l |
T |
A |
8: 4,241,658 (GRCm39) |
M329K |
probably damaging |
Het |
| Fam169b |
A |
G |
7: 68,000,117 (GRCm39) |
D221G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,761 (GRCm39) |
D126G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,462,611 (GRCm39) |
I293T |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,318,687 (GRCm39) |
H463R |
possibly damaging |
Het |
| Iigp1c |
G |
A |
18: 60,379,092 (GRCm39) |
R209H |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,696 (GRCm39) |
D1101V |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,033,008 (GRCm39) |
M98I |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,687,374 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,806,526 (GRCm39) |
V107E |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,513,873 (GRCm39) |
E584G |
probably damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,063,937 (GRCm39) |
A389V |
possibly damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,173 (GRCm39) |
T2A |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,589,821 (GRCm39) |
I784F |
possibly damaging |
Het |
| Lpar1 |
G |
A |
4: 58,486,573 (GRCm39) |
R233C |
probably benign |
Het |
| Neb |
C |
A |
2: 52,052,079 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,824,337 (GRCm39) |
I697T |
possibly damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Pgm2l1 |
T |
G |
7: 99,917,340 (GRCm39) |
S486A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,296 (GRCm39) |
S748R |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,589,778 (GRCm39) |
|
probably benign |
Het |
| Ric8a |
T |
C |
7: 140,438,228 (GRCm39) |
Y156H |
probably benign |
Het |
| Rnf111 |
C |
A |
9: 70,383,325 (GRCm39) |
G203C |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc2a12 |
G |
A |
10: 22,541,036 (GRCm39) |
G297E |
probably damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,809,318 (GRCm39) |
I102F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,680 (GRCm39) |
Y364C |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,989,702 (GRCm39) |
Y505H |
probably benign |
Het |
| Tlr1 |
G |
T |
5: 65,084,441 (GRCm39) |
D45E |
probably benign |
Het |
| Upp1 |
G |
A |
11: 9,081,774 (GRCm39) |
V104M |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,875 (GRCm39) |
V1330A |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,930,823 (GRCm39) |
Y257* |
probably null |
Het |
|
| Other mutations in Rhbdl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01575:Rhbdl1
|
APN |
17 |
26,055,112 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1672:Rhbdl1
|
UTSW |
17 |
26,055,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1922:Rhbdl1
|
UTSW |
17 |
26,054,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Rhbdl1
|
UTSW |
17 |
26,054,002 (GRCm39) |
nonsense |
probably null |
|
|
R6293:Rhbdl1
|
UTSW |
17 |
26,053,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6296:Rhbdl1
|
UTSW |
17 |
26,053,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6535:Rhbdl1
|
UTSW |
17 |
26,054,799 (GRCm39) |
nonsense |
probably null |
|
|
R6848:Rhbdl1
|
UTSW |
17 |
26,055,158 (GRCm39) |
nonsense |
probably null |
|
|
R7619:Rhbdl1
|
UTSW |
17 |
26,055,991 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7721:Rhbdl1
|
UTSW |
17 |
26,055,123 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7746:Rhbdl1
|
UTSW |
17 |
26,055,167 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8015:Rhbdl1
|
UTSW |
17 |
26,054,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Rhbdl1
|
UTSW |
17 |
26,053,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8943:Rhbdl1
|
UTSW |
17 |
26,054,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9496:Rhbdl1
|
UTSW |
17 |
26,055,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9781:Rhbdl1
|
UTSW |
17 |
26,055,443 (GRCm39) |
missense |
probably benign |
|
|
X0009:Rhbdl1
|
UTSW |
17 |
26,055,383 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGCCCAGGTCTGTAAG -3'
(R):5'- GGTGGTAGAACAGCCAAACC -3'
Sequencing Primer
(F):5'- TACCCAGTAAAAAGCTGTGTGC -3'
(R):5'- CCAAACCAGGCACCTTGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation