Incidental Mutation 'IGL01575:Rhbdl1'
| ID |
91210 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhbdl1
|
| Ensembl Gene |
ENSMUSG00000025735 |
| Gene Name |
rhomboid like 1 |
| Synonyms |
Rhbdl |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01575
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26053439-26056101 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26055112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 32
(A32E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000026832]
[ENSMUST00000043897]
[ENSMUST00000044911]
[ENSMUST00000133595]
[ENSMUST00000184865]
[ENSMUST00000183929]
|
| AlphaFold |
Q8VC82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026831
AA Change: A86E
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735
AA Change: A86E
| 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 |
possibly damaging
Transcript: ENSMUST00000184865
AA Change: A32E
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183929
AA Change: A90E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
AA Change: A90E
| 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: ENSMUST00000177122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176751
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc2 |
C |
T |
2: 25,175,188 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
| Boll |
A |
G |
1: 55,362,807 (GRCm39) |
|
probably null |
Het |
| Cngb1 |
G |
A |
8: 95,991,148 (GRCm39) |
P226S |
possibly damaging |
Het |
| Commd3 |
G |
A |
2: 18,679,528 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
C |
T |
13: 55,801,996 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
G |
4: 107,541,265 (GRCm39) |
I32T |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,466,979 (GRCm39) |
|
probably benign |
Het |
| Dppa5a |
A |
G |
9: 78,275,062 (GRCm39) |
I80T |
possibly damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,710 (GRCm39) |
|
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,793,103 (GRCm39) |
Y510H |
possibly damaging |
Het |
| Idua |
G |
T |
5: 108,829,973 (GRCm39) |
R505L |
possibly damaging |
Het |
| Ifna15 |
A |
G |
4: 88,476,044 (GRCm39) |
F147L |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,118,599 (GRCm39) |
S433P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,077,523 (GRCm39) |
Y442H |
possibly damaging |
Het |
| Kmt2d |
A |
G |
15: 98,744,736 (GRCm39) |
|
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,403,365 (GRCm39) |
|
probably benign |
Het |
| Or14c39 |
T |
C |
7: 86,344,501 (GRCm39) |
V279A |
probably benign |
Het |
| Or5p64 |
A |
C |
7: 107,854,742 (GRCm39) |
V201G |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,436 (GRCm39) |
I228V |
probably benign |
Het |
| Pam16l |
T |
C |
10: 43,400,411 (GRCm39) |
V55A |
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,990,050 (GRCm39) |
L693S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,792,102 (GRCm39) |
N1263S |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,734 (GRCm39) |
S176P |
possibly damaging |
Het |
| Scn1a |
G |
T |
2: 66,103,580 (GRCm39) |
F1893L |
probably damaging |
Het |
| Serpina3f |
C |
A |
12: 104,184,699 (GRCm39) |
P281Q |
probably damaging |
Het |
| Slc35a1 |
G |
T |
4: 34,668,932 (GRCm39) |
Q294K |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,435,976 (GRCm39) |
S1154N |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,938,871 (GRCm39) |
S726P |
probably benign |
Het |
| Tiam2 |
A |
T |
17: 3,504,591 (GRCm39) |
E24V |
probably damaging |
Het |
| Tmf1 |
T |
C |
6: 97,152,897 (GRCm39) |
E392G |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,021,626 (GRCm39) |
V1089A |
probably damaging |
Het |
| Tspyl1 |
C |
A |
10: 34,159,086 (GRCm39) |
N270K |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,913,628 (GRCm39) |
V901D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,224,031 (GRCm39) |
I764V |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,152 (GRCm39) |
V186A |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,210 (GRCm39) |
V221A |
probably damaging |
Het |
|
| Other mutations in Rhbdl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation