Incidental Mutation 'R6293:Rhbdl1'
ID |
508576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhbdl1
|
Ensembl Gene |
ENSMUSG00000025735 |
Gene Name |
rhomboid like 1 |
Synonyms |
Rhbdl |
MMRRC Submission |
044462-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6293 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26053439-26056101 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26053943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 309
(L309P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000026832]
[ENSMUST00000043897]
[ENSMUST00000044911]
[ENSMUST00000123582]
[ENSMUST00000183929]
[ENSMUST00000133595]
[ENSMUST00000184865]
|
AlphaFold |
Q8VC82 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026831
AA Change: L313P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026831 Gene: ENSMUSG00000025735 AA Change: L313P
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 |
noncoding transcript
Transcript: ENSMUST00000123560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123582
|
SMART Domains |
Protein: ENSMUSP00000119840 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
low complexity region
|
194 |
208 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123692
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183929
AA Change: L309P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139046 Gene: ENSMUSG00000025735 AA Change: L309P
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: ENSMUST00000180868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176751
|
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: ENSMUST00000143296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176522
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152434
|
SMART Domains |
Protein: ENSMUSP00000119378 Gene: ENSMUSG00000025736
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184865
|
Meta Mutation Damage Score |
0.9425 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
Abcb1b |
T |
C |
5: 8,903,493 (GRCm39) |
I1048T |
probably benign |
Het |
Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
Alkbh8 |
G |
T |
9: 3,347,841 (GRCm39) |
L211F |
possibly damaging |
Het |
Ankrd27 |
T |
C |
7: 35,307,885 (GRCm39) |
S375P |
possibly damaging |
Het |
Apoc1 |
T |
A |
7: 19,425,817 (GRCm39) |
T68S |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,508 (GRCm39) |
Y1318N |
possibly damaging |
Het |
Camsap2 |
C |
A |
1: 136,215,658 (GRCm39) |
R345L |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,398,659 (GRCm39) |
Q46* |
probably null |
Het |
Cdk12 |
T |
A |
11: 98,115,379 (GRCm39) |
M840K |
unknown |
Het |
Cfap251 |
A |
C |
5: 123,460,511 (GRCm39) |
N1158H |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,521,640 (GRCm39) |
N2772K |
probably benign |
Het |
Dthd1 |
A |
G |
5: 63,000,193 (GRCm39) |
D505G |
probably damaging |
Het |
Elf1 |
C |
T |
14: 79,798,226 (GRCm39) |
H38Y |
probably damaging |
Het |
Gcnt2 |
T |
A |
13: 41,072,173 (GRCm39) |
V272D |
probably damaging |
Het |
Gm9964 |
T |
A |
11: 79,187,420 (GRCm39) |
K9M |
unknown |
Het |
Gpr155 |
A |
G |
2: 73,204,341 (GRCm39) |
S158P |
possibly damaging |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,324,543 (GRCm39) |
S4635G |
possibly damaging |
Het |
Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
Lrrc8c |
A |
G |
5: 105,754,612 (GRCm39) |
Y129C |
probably damaging |
Het |
Mbtd1 |
C |
T |
11: 93,823,058 (GRCm39) |
H493Y |
possibly damaging |
Het |
Mcm3ap |
C |
G |
10: 76,307,312 (GRCm39) |
Y418* |
probably null |
Het |
Mpdz |
A |
G |
4: 81,278,293 (GRCm39) |
L764P |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,877,627 (GRCm39) |
D426G |
unknown |
Het |
Ndel1 |
C |
T |
11: 68,727,101 (GRCm39) |
R192H |
probably damaging |
Het |
Nudt21 |
T |
C |
8: 94,755,506 (GRCm39) |
D134G |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,022,371 (GRCm39) |
H113L |
probably damaging |
Het |
Nxf1 |
A |
G |
19: 8,746,546 (GRCm39) |
K586E |
probably damaging |
Het |
Or2ag15 |
T |
C |
7: 106,340,613 (GRCm39) |
H176R |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,624 (GRCm39) |
E171G |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,108,099 (GRCm39) |
Y365C |
possibly damaging |
Het |
Pkd2l2 |
A |
G |
18: 34,560,497 (GRCm39) |
Y368C |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,515,465 (GRCm39) |
F649L |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,755,798 (GRCm39) |
Y205C |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,232,522 (GRCm39) |
N863S |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,605,019 (GRCm39) |
K2979R |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,840,253 (GRCm39) |
Y251C |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,525,607 (GRCm39) |
W334R |
probably damaging |
Het |
Rbm11 |
A |
T |
16: 75,393,655 (GRCm39) |
|
probably null |
Het |
Rhbg |
G |
A |
3: 88,153,133 (GRCm39) |
R274* |
probably null |
Het |
Rpp30 |
A |
G |
19: 36,081,845 (GRCm39) |
*269W |
probably null |
Het |
Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Slc44a1 |
A |
G |
4: 53,561,099 (GRCm39) |
K605R |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,927,346 (GRCm39) |
S80G |
probably benign |
Het |
Tmem50b |
A |
T |
16: 91,380,164 (GRCm39) |
M71K |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyro3 |
A |
G |
2: 119,638,481 (GRCm39) |
T303A |
possibly damaging |
Het |
Uba3 |
A |
T |
6: 97,173,869 (GRCm39) |
D105E |
probably damaging |
Het |
Vmn1r21 |
T |
C |
6: 57,821,255 (GRCm39) |
D63G |
probably benign |
Het |
Vstm2b |
T |
A |
7: 40,549,533 (GRCm39) |
I63N |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zscan22 |
T |
A |
7: 12,640,834 (GRCm39) |
C359* |
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 |
|
R5500:Rhbdl1
|
UTSW |
17 |
26,055,528 (GRCm39) |
missense |
possibly damaging |
0.83 |
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'- GTCCATTCATATAGGGCAGACATG -3'
(R):5'- CATACAAGCTGCTGAGGATGG -3'
Sequencing Primer
(F):5'- ACCTGGTGCCTGGCTCTAG -3'
(R):5'- AAGCTGCTGAGGATGGTGCTG -3'
|
Posted On |
2018-03-15 |