Incidental Mutation 'R6535:Rhbdl1'
| ID |
520363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhbdl1
|
| Ensembl Gene |
ENSMUSG00000025735 |
| Gene Name |
rhomboid like 1 |
| Synonyms |
Rhbdl |
| MMRRC Submission |
044661-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26053439-26056101 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 26054799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 111
(Y111*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000026832]
[ENSMUST00000043897]
[ENSMUST00000044911]
[ENSMUST00000133595]
[ENSMUST00000183929]
[ENSMUST00000184865]
|
| AlphaFold |
Q8VC82 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026831
AA Change: Y165*
|
| SMART Domains |
Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735
AA Change: Y165*
| 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: ENSMUST00000175335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176522
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183929
AA Change: Y169*
|
| SMART Domains |
Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
AA Change: Y169*
| 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 |
probably null
Transcript: ENSMUST00000184865
AA Change: Y111*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
G |
A |
17: 43,750,920 (GRCm39) |
S495N |
probably benign |
Het |
| Ank3 |
G |
T |
10: 69,713,684 (GRCm39) |
A448S |
probably damaging |
Het |
| Apobec3 |
A |
G |
15: 79,781,950 (GRCm39) |
*47W |
probably null |
Het |
| B4gat1 |
T |
C |
19: 5,089,558 (GRCm39) |
V185A |
possibly damaging |
Het |
| Cers1 |
T |
A |
8: 70,782,804 (GRCm39) |
V58D |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,437 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,751,122 (GRCm39) |
E177V |
probably benign |
Het |
| Cpt1a |
T |
A |
19: 3,415,788 (GRCm39) |
|
probably null |
Het |
| Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
| Dennd6b |
A |
G |
15: 89,070,570 (GRCm39) |
L400P |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,493,924 (GRCm39) |
S2P |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,457,351 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
C |
10: 26,980,127 (GRCm39) |
L1896R |
probably damaging |
Het |
| Ly6g6g |
T |
C |
15: 74,644,074 (GRCm39) |
S81G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,365,728 (GRCm39) |
V3011D |
possibly damaging |
Het |
| Macrod1 |
A |
G |
19: 7,034,515 (GRCm39) |
D86G |
probably damaging |
Het |
| Mettl8 |
G |
T |
2: 70,803,733 (GRCm39) |
H185N |
possibly damaging |
Het |
| Mipol1 |
A |
C |
12: 57,352,886 (GRCm39) |
Q75P |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,118,900 (GRCm39) |
V125M |
probably damaging |
Het |
| Pole |
A |
C |
5: 110,472,673 (GRCm39) |
Y1618S |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,381,241 (GRCm39) |
V21A |
unknown |
Het |
| Sbk3 |
A |
C |
7: 4,972,840 (GRCm39) |
M110R |
possibly damaging |
Het |
| Scn8a |
G |
A |
15: 100,857,588 (GRCm39) |
|
probably benign |
Het |
| Tcstv2c |
T |
C |
13: 120,616,190 (GRCm39) |
S10P |
probably damaging |
Het |
| Tshz3 |
T |
C |
7: 36,468,214 (GRCm39) |
S68P |
probably damaging |
Het |
| Vmn1r88 |
C |
T |
7: 12,912,112 (GRCm39) |
T156I |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,826,131 (GRCm39) |
H177R |
probably damaging |
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 |
|
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 |
|
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'- CTTAGCTGGGAGATAAGCCTTC -3'
(R):5'- TATGTGGCCTACGAGATCCTGC -3'
Sequencing Primer
(F):5'- TAAGCCTTCAGAGTCAGTGGGC -3'
(R):5'- TGGTACTTCTACAGGCACCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation