Incidental Mutation 'IGL00807:Rhot1'
| ID |
13817 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rhot1
|
| Ensembl Gene |
ENSMUSG00000017686 |
| Gene Name |
ras homolog family member T1 |
| Synonyms |
2210403N23Rik, Arht1, C430039G08Rik, FLJ11040, Miro1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
80209019-80267907 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80226102 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 101
(H101Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017831]
[ENSMUST00000055056]
[ENSMUST00000077451]
[ENSMUST00000092857]
|
| AlphaFold |
Q8BG51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017831
AA Change: H101Y
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: H101Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
7 |
177 |
5.5e-6 |
PFAM |
|
Pfam:Miro
|
19 |
134 |
2.5e-18 |
PFAM |
|
Pfam:Ras
|
19 |
181 |
1.4e-20 |
PFAM |
|
EFh
|
201 |
229 |
6.75e0 |
SMART |
|
Pfam:EF_assoc_2
|
231 |
319 |
5.3e-36 |
PFAM |
|
EFh
|
321 |
349 |
1.67e0 |
SMART |
|
Pfam:EF_assoc_1
|
353 |
427 |
1.8e-33 |
PFAM |
|
Pfam:Miro
|
433 |
543 |
6.6e-16 |
PFAM |
|
Pfam:Ras
|
433 |
566 |
1.7e-6 |
PFAM |
|
transmembrane domain
|
638 |
660 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055056
AA Change: H101Y
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: H101Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
7 |
177 |
5.6e-6 |
PFAM |
|
Pfam:Miro
|
19 |
134 |
2.5e-18 |
PFAM |
|
Pfam:Ras
|
19 |
181 |
1.4e-20 |
PFAM |
|
EFh
|
201 |
229 |
6.75e0 |
SMART |
|
Pfam:EF_assoc_2
|
231 |
319 |
5.4e-36 |
PFAM |
|
EFh
|
321 |
349 |
1.67e0 |
SMART |
|
Pfam:EF_assoc_1
|
353 |
427 |
1.8e-33 |
PFAM |
|
Pfam:Miro
|
433 |
543 |
6.7e-16 |
PFAM |
|
Pfam:Ras
|
433 |
577 |
1.6e-6 |
PFAM |
|
transmembrane domain
|
647 |
669 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077451
AA Change: H101Y
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: H101Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Roc
|
19 |
135 |
9.4e-11 |
PFAM |
|
Pfam:Ras
|
19 |
181 |
9.1e-21 |
PFAM |
|
EFh
|
201 |
229 |
6.75e0 |
SMART |
|
Pfam:EF_assoc_2
|
232 |
318 |
8.3e-36 |
PFAM |
|
EFh
|
321 |
349 |
1.67e0 |
SMART |
|
Pfam:EF_assoc_1
|
354 |
426 |
7e-32 |
PFAM |
|
Pfam:Ras
|
433 |
566 |
1.5e-6 |
PFAM |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092857
AA Change: H101Y
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: H101Y
| Domain | Start | End | E-Value | Type |
|---|
|
small_GTPase
|
15 |
182 |
5.1e-8 |
SMART |
|
EFh
|
201 |
229 |
3.3e-2 |
SMART |
|
Pfam:EF_assoc_2
|
231 |
319 |
2.9e-33 |
PFAM |
|
EFh
|
321 |
349 |
8.1e-3 |
SMART |
|
Pfam:EF_assoc_1
|
353 |
427 |
1e-30 |
PFAM |
|
Pfam:Miro
|
433 |
543 |
8e-15 |
PFAM |
|
Pfam:Ras
|
433 |
566 |
2.5e-5 |
PFAM |
|
transmembrane domain
|
606 |
628 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele die neonatally exhibiting cyanosis, respiratory failure, loss of brainstem cranial motor neurons, decreased cervical motor neuron number and phrenic nerve branching, and alterations in retrograde mitochondrial transport and run length in cortical axons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,378,285 |
T3453S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 9,008,522 |
V2390E |
possibly damaging |
Het |
| Aldh8a1 |
A |
T |
10: 21,395,430 |
I352F |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,797,891 |
|
probably benign |
Het |
| Ccr1l1 |
A |
T |
9: 123,977,469 |
W314R |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 180,141,453 |
I1218V |
possibly damaging |
Het |
| Dlc1 |
G |
A |
8: 36,572,848 |
T1386I |
probably benign |
Het |
| Frs2 |
A |
C |
10: 117,074,886 |
|
probably benign |
Het |
| Gm4951 |
C |
T |
18: 60,245,411 |
S6F |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,012,040 |
Y3H |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,233,135 |
N609S |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,650,423 |
M1541K |
possibly damaging |
Het |
| Mmachc |
A |
T |
4: 116,705,921 |
V79E |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,679,413 |
D21G |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,504,412 |
V436M |
probably damaging |
Het |
| Sh2d4a |
T |
C |
8: 68,329,366 |
|
probably null |
Het |
| Taar2 |
A |
G |
10: 23,940,675 |
M38V |
probably benign |
Het |
| Tek |
A |
T |
4: 94,798,719 |
N158I |
probably damaging |
Het |
| Znrd1as |
G |
T |
17: 36,964,921 |
A132S |
probably damaging |
Het |
|
| Other mutations in Rhot1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Rhot1
|
APN |
11 |
80250229 |
missense |
probably damaging |
1.00 |
|
IGL01631:Rhot1
|
APN |
11 |
80265774 |
missense |
probably damaging |
1.00 |
|
IGL03009:Rhot1
|
APN |
11 |
80220254 |
splice site |
probably null |
|
|
IGL03106:Rhot1
|
APN |
11 |
80242581 |
nonsense |
probably null |
|
|
R0554:Rhot1
|
UTSW |
11 |
80243438 |
nonsense |
probably null |
|
|
R0720:Rhot1
|
UTSW |
11 |
80223943 |
missense |
probably damaging |
1.00 |
|
R1319:Rhot1
|
UTSW |
11 |
80246021 |
missense |
probably damaging |
0.98 |
|
R3825:Rhot1
|
UTSW |
11 |
80226081 |
missense |
probably damaging |
0.98 |
|
R4713:Rhot1
|
UTSW |
11 |
80225602 |
missense |
probably benign |
0.00 |
|
R4917:Rhot1
|
UTSW |
11 |
80209201 |
utr 5 prime |
probably benign |
|
|
R4971:Rhot1
|
UTSW |
11 |
80233474 |
missense |
probably damaging |
1.00 |
|
R5159:Rhot1
|
UTSW |
11 |
80220272 |
missense |
probably damaging |
1.00 |
|
R5177:Rhot1
|
UTSW |
11 |
80246766 |
missense |
possibly damaging |
0.90 |
|
R5231:Rhot1
|
UTSW |
11 |
80227334 |
critical splice donor site |
probably null |
|
|
R5659:Rhot1
|
UTSW |
11 |
80250355 |
splice site |
probably null |
|
|
R5941:Rhot1
|
UTSW |
11 |
80251170 |
intron |
probably benign |
|
|
R6216:Rhot1
|
UTSW |
11 |
80251059 |
missense |
probably benign |
0.00 |
|
R6920:Rhot1
|
UTSW |
11 |
80242095 |
missense |
probably benign |
0.36 |
|
R6984:Rhot1
|
UTSW |
11 |
80233484 |
nonsense |
probably null |
|
|
R7199:Rhot1
|
UTSW |
11 |
80246734 |
missense |
probably damaging |
1.00 |
|
R7383:Rhot1
|
UTSW |
11 |
80223934 |
missense |
probably damaging |
1.00 |
|
R7453:Rhot1
|
UTSW |
11 |
80248540 |
critical splice donor site |
probably null |
|
|
R7922:Rhot1
|
UTSW |
11 |
80265803 |
missense |
probably benign |
0.01 |
|
R7996:Rhot1
|
UTSW |
11 |
80257537 |
missense |
probably damaging |
1.00 |
|
R8116:Rhot1
|
UTSW |
11 |
80251053 |
missense |
probably benign |
0.00 |
|
R8298:Rhot1
|
UTSW |
11 |
80246676 |
missense |
probably benign |
0.01 |
|
R8322:Rhot1
|
UTSW |
11 |
80257560 |
missense |
possibly damaging |
0.95 |
|
R8371:Rhot1
|
UTSW |
11 |
80243466 |
missense |
probably damaging |
1.00 |
|
R8408:Rhot1
|
UTSW |
11 |
80223960 |
missense |
probably damaging |
1.00 |
|
R9155:Rhot1
|
UTSW |
11 |
80257554 |
missense |
probably null |
0.59 |
|
R9338:Rhot1
|
UTSW |
11 |
80254742 |
missense |
probably benign |
0.08 |
|
Z1176:Rhot1
|
UTSW |
11 |
80242621 |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation