Incidental Mutation 'R7996:Rhot1'
| ID |
616100 |
| 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 |
046036-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80099845-80158733 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80148363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 601
(C601Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017831]
[ENSMUST00000055056]
[ENSMUST00000077451]
[ENSMUST00000092857]
|
| AlphaFold |
Q8BG51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017831
|
| SMART Domains |
Protein: ENSMUSP00000017831
Gene: ENSMUSG00000017686
| 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: C601Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000057669
Gene: ENSMUSG00000017686
AA Change: C601Y
| 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: C633Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076664
Gene: ENSMUSG00000017686
AA Change: C633Y
| 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
|
| SMART Domains |
Protein: ENSMUSP00000090533
Gene: ENSMUSG00000017686
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117941
Gene: ENSMUSG00000017686
AA Change: C362Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,977,490 (GRCm39) |
N394K |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,505,001 (GRCm39) |
D69G |
possibly damaging |
Het |
| Arid5a |
G |
T |
1: 36,356,526 (GRCm39) |
C121F |
unknown |
Het |
| Ccne2 |
C |
A |
4: 11,201,347 (GRCm39) |
Q292K |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,459,194 (GRCm39) |
I723T |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,118,828 (GRCm39) |
T62A |
probably damaging |
Het |
| Cobll1 |
T |
A |
2: 64,981,329 (GRCm39) |
H87L |
possibly damaging |
Het |
| Derl1 |
T |
G |
15: 57,741,970 (GRCm39) |
M122L |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,323 (GRCm39) |
N3580K |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,378 (GRCm39) |
Q215R |
probably benign |
Het |
| Eif3m |
T |
C |
2: 104,831,694 (GRCm39) |
N289D |
probably benign |
Het |
| Elapor2 |
A |
C |
5: 9,512,881 (GRCm39) |
K958N |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,242,888 (GRCm39) |
I1084L |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,889 (GRCm39) |
V87A |
|
Het |
| Garre1 |
G |
T |
7: 33,963,024 (GRCm39) |
T216K |
possibly damaging |
Het |
| Gm3336 |
A |
T |
8: 71,173,146 (GRCm39) |
T53S |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hr |
G |
A |
14: 70,801,043 (GRCm39) |
W676* |
probably null |
Het |
| Katnb1 |
A |
T |
8: 95,824,643 (GRCm39) |
I546F |
possibly damaging |
Het |
| Memo1 |
A |
T |
17: 74,565,491 (GRCm39) |
L24Q |
probably damaging |
Het |
| Mmel1 |
C |
G |
4: 154,976,912 (GRCm39) |
Q529E |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,164 (GRCm39) |
F1024S |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,759 (GRCm39) |
D186G |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,155 (GRCm39) |
V198E |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,107,276 (GRCm39) |
K110R |
probably benign |
Het |
| Pate13 |
G |
A |
9: 35,820,650 (GRCm39) |
R34H |
probably damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,459 (GRCm39) |
S625F |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,329,766 (GRCm39) |
L106* |
probably null |
Het |
| Rabggtb |
T |
C |
3: 153,617,605 (GRCm39) |
H31R |
probably damaging |
Het |
| Rps27 |
A |
G |
3: 90,120,309 (GRCm39) |
V53A |
probably benign |
Het |
| Sdr39u1 |
C |
A |
14: 56,135,344 (GRCm39) |
G200* |
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,770,929 (GRCm39) |
Y153* |
probably null |
Het |
| Slc25a40 |
A |
G |
5: 8,493,653 (GRCm39) |
T168A |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,595,730 (GRCm39) |
R286* |
probably null |
Het |
| Smtnl2 |
T |
A |
11: 72,291,200 (GRCm39) |
K349N |
probably damaging |
Het |
| Snx16 |
G |
T |
3: 10,500,509 (GRCm39) |
D153E |
probably benign |
Het |
| Spata31e5 |
C |
T |
1: 28,817,487 (GRCm39) |
E182K |
probably damaging |
Het |
| Ssu72 |
A |
C |
4: 155,816,450 (GRCm39) |
N144T |
probably benign |
Het |
| Stk40 |
C |
A |
4: 126,030,667 (GRCm39) |
L296I |
probably damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,644,254 (GRCm39) |
M225V |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,051,441 (GRCm39) |
L4057P |
probably damaging |
Het |
| Tbx2 |
A |
G |
11: 85,725,616 (GRCm39) |
H189R |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,441,311 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
T |
C |
4: 3,605,842 (GRCm39) |
S786P |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
| Trim14 |
A |
T |
4: 46,533,086 (GRCm39) |
C76S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,993,231 (GRCm39) |
Q506L |
possibly damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,795 (GRCm39) |
F317I |
probably damaging |
Het |
| Vwa5a |
T |
A |
9: 38,639,124 (GRCm39) |
Y335* |
probably null |
Het |
| Zgrf1 |
C |
T |
3: 127,389,573 (GRCm39) |
T1257I |
possibly damaging |
Het |
| Zpr1 |
A |
G |
9: 46,184,863 (GRCm39) |
N87D |
possibly 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 |
|
R1319:Rhot1
|
UTSW |
11 |
80,136,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- GGAATTCTGCACAACTTTAGCATG -3'
(R):5'- GCCACCACATTGAGACTTTCAG -3'
Sequencing Primer
(F):5'- TTAGCATGCCCCACACTG -3'
(R):5'- CCACATTGAGACTTTCAGTGGGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation