Incidental Mutation 'R1319:Rhot1'
| ID |
157640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhot1
|
| Ensembl Gene |
ENSMUSG00000017686 |
| Gene Name |
ras homolog family member T1 |
| Synonyms |
2210403N23Rik, FLJ11040, Arht1, Miro1, C430039G08Rik |
| MMRRC Submission |
039385-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1319 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80099845-80158733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80136847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 310
(C310R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017831]
[ENSMUST00000055056]
[ENSMUST00000077451]
[ENSMUST00000092857]
|
| AlphaFold |
Q8BG51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017831
AA Change: C310R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
AA Change: C310R
| 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 damaging
Transcript: ENSMUST00000055056
AA Change: C310R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: C310R
| 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 damaging
Transcript: ENSMUST00000077451
AA Change: C310R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: C310R
| 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 damaging
Transcript: ENSMUST00000092857
AA Change: C310R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
AA Change: C310R
| 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 |
unknown
Transcript: ENSMUST00000134894
AA Change: C71R
|
| SMART Domains |
Protein: ENSMUSP00000117941
Gene: ENSMUSG00000017686
AA Change: C71R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF_assoc_2
|
1 |
80 |
1.3e-34 |
PFAM |
|
Blast:EFh
|
83 |
111 |
2e-10 |
BLAST |
|
Pfam:EF_assoc_1
|
116 |
188 |
4.3e-33 |
PFAM |
|
Pfam:Ras
|
195 |
331 |
1.3e-7 |
PFAM |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135947
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154362
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
C |
14: 68,846,578 (GRCm39) |
E745G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,286,877 (GRCm39) |
K827N |
probably benign |
Het |
| Ang2 |
T |
C |
14: 51,433,164 (GRCm39) |
T73A |
probably benign |
Het |
| Bbs10 |
T |
C |
10: 111,134,735 (GRCm39) |
L51P |
probably damaging |
Het |
| Bean1 |
T |
C |
8: 104,943,856 (GRCm39) |
I137T |
probably benign |
Het |
| Cimip1 |
A |
T |
2: 173,369,716 (GRCm39) |
S77C |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,434,629 (GRCm39) |
T410A |
probably benign |
Het |
| Cyp4a10 |
A |
C |
4: 115,378,342 (GRCm39) |
I143L |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,087,231 (GRCm39) |
Q788L |
probably damaging |
Het |
| Epha10 |
G |
A |
4: 124,775,707 (GRCm39) |
V14I |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,117,159 (GRCm39) |
D401N |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,234,070 (GRCm39) |
V114A |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,333,682 (GRCm39) |
P178S |
possibly damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,169,484 (GRCm39) |
|
probably null |
Het |
| Grm1 |
G |
T |
10: 10,565,142 (GRCm39) |
H1055Q |
probably benign |
Het |
| Mcm6 |
T |
C |
1: 128,276,789 (GRCm39) |
N267S |
probably benign |
Het |
| Or5an1c |
T |
C |
19: 12,218,866 (GRCm39) |
D53G |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 30,984,018 (GRCm39) |
I699V |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Pyroxd1 |
T |
C |
6: 142,304,874 (GRCm39) |
V367A |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
| Rag1 |
A |
T |
2: 101,473,537 (GRCm39) |
I535N |
probably damaging |
Het |
| Tnrc6a |
G |
A |
7: 122,783,474 (GRCm39) |
V1481M |
probably benign |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,172 (GRCm39) |
M29L |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,881,700 (GRCm39) |
I460T |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,660,465 (GRCm39) |
Y1240N |
probably damaging |
Het |
|
| Other mutations in Rhot1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00807:Rhot1
|
APN |
11 |
80,116,928 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01335:Rhot1
|
APN |
11 |
80,141,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01631:Rhot1
|
APN |
11 |
80,156,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Rhot1
|
APN |
11 |
80,111,080 (GRCm39) |
splice site |
probably null |
|
|
IGL03106:Rhot1
|
APN |
11 |
80,133,407 (GRCm39) |
nonsense |
probably null |
|
|
R0554:Rhot1
|
UTSW |
11 |
80,134,264 (GRCm39) |
nonsense |
probably null |
|
|
R0720:Rhot1
|
UTSW |
11 |
80,114,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Rhot1
|
UTSW |
11 |
80,116,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4713:Rhot1
|
UTSW |
11 |
80,116,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4917:Rhot1
|
UTSW |
11 |
80,100,027 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4971:Rhot1
|
UTSW |
11 |
80,124,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Rhot1
|
UTSW |
11 |
80,111,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5177:Rhot1
|
UTSW |
11 |
80,137,592 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5231:Rhot1
|
UTSW |
11 |
80,118,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5659:Rhot1
|
UTSW |
11 |
80,141,181 (GRCm39) |
splice site |
probably null |
|
|
R5941:Rhot1
|
UTSW |
11 |
80,141,996 (GRCm39) |
intron |
probably benign |
|
|
R6216:Rhot1
|
UTSW |
11 |
80,141,885 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6920:Rhot1
|
UTSW |
11 |
80,132,921 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6984:Rhot1
|
UTSW |
11 |
80,124,310 (GRCm39) |
nonsense |
probably null |
|
|
R7199:Rhot1
|
UTSW |
11 |
80,137,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7383:Rhot1
|
UTSW |
11 |
80,114,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Rhot1
|
UTSW |
11 |
80,139,366 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7922:Rhot1
|
UTSW |
11 |
80,156,629 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7996:Rhot1
|
UTSW |
11 |
80,148,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Rhot1
|
UTSW |
11 |
80,141,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8298:Rhot1
|
UTSW |
11 |
80,137,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8322:Rhot1
|
UTSW |
11 |
80,148,386 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8371:Rhot1
|
UTSW |
11 |
80,134,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8408:Rhot1
|
UTSW |
11 |
80,114,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Rhot1
|
UTSW |
11 |
80,148,380 (GRCm39) |
missense |
probably null |
0.59 |
|
R9338:Rhot1
|
UTSW |
11 |
80,145,568 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Rhot1
|
UTSW |
11 |
80,133,447 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCAGAGCCTTTTCCCTGAGAC -3'
(R):5'- TGAATCAGTGCCGGGATTAAAGGTG -3'
Sequencing Primer
(F):5'- CCCTGAGACTGTCTGTGTGAC -3'
(R):5'- gtgtatgccacaaccacTGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation