Incidental Mutation 'R5772:Rhot2'
| ID |
445475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rhot2
|
| Ensembl Gene |
ENSMUSG00000025733 |
| Gene Name |
ras homolog family member T2 |
| Synonyms |
Miro2, Arht2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26057431-26063499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26058781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 540
(S540T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026831]
[ENSMUST00000043897]
[ENSMUST00000079461]
[ENSMUST00000176709]
[ENSMUST00000183929]
[ENSMUST00000184865]
|
| AlphaFold |
Q8JZN7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026831
|
| SMART Domains |
Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735
| 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: ENSMUST00000043897
AA Change: S540T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000044639
Gene: ENSMUSG00000025733
AA Change: S540T
| 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: ENSMUST00000079461
|
| SMART Domains |
Protein: ENSMUSP00000078426
Gene: ENSMUSG00000073434
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF667
|
60 |
183 |
5e-26 |
PFAM |
|
Pfam:DUF667
|
210 |
271 |
3.7e-9 |
PFAM |
|
low complexity region
|
381 |
396 |
N/A |
INTRINSIC |
|
WD40
|
478 |
519 |
5.94e0 |
SMART |
|
WD40
|
522 |
565 |
3.2e0 |
SMART |
|
WD40
|
572 |
612 |
3.3e1 |
SMART |
|
WD40
|
687 |
725 |
1.15e1 |
SMART |
|
WD40
|
728 |
766 |
5.75e-1 |
SMART |
|
WD40
|
768 |
808 |
9.24e-4 |
SMART |
|
WD40
|
811 |
850 |
4.13e0 |
SMART |
|
WD40
|
853 |
892 |
4.62e-1 |
SMART |
|
WD40
|
950 |
993 |
1.07e1 |
SMART |
|
WD40
|
996 |
1035 |
5.75e-1 |
SMART |
|
WD40
|
1040 |
1077 |
1.58e-2 |
SMART |
|
WD40
|
1290 |
1334 |
5.23e-3 |
SMART |
|
WD40
|
1337 |
1378 |
1.27e-1 |
SMART |
|
WD40
|
1384 |
1419 |
1.83e2 |
SMART |
|
WD40
|
1422 |
1469 |
3.08e0 |
SMART |
|
WD40
|
1472 |
1509 |
9.9e0 |
SMART |
|
WD40
|
1568 |
1607 |
9.02e-7 |
SMART |
|
WD40
|
1610 |
1655 |
5.75e-1 |
SMART |
|
WD40
|
1659 |
1697 |
2.98e-1 |
SMART |
|
WD40
|
1700 |
1749 |
6.14e1 |
SMART |
|
WD40
|
1850 |
1888 |
1.92e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177122
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176751
AA Change: S329T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176575
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176709
|
| SMART Domains |
Protein: ENSMUSP00000135436
Gene: ENSMUSG00000025733
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
121 |
1.6e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
6 |
118 |
1.4e-6 |
PFAM |
|
Pfam:Miro
|
6 |
120 |
7.8e-20 |
PFAM |
|
Pfam:Ras
|
6 |
121 |
7.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183929
|
| SMART Domains |
Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735
| 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 benign
Transcript: ENSMUST00000184865
|
| Meta Mutation Damage Score |
0.0732 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with normal mitochondria distribution in neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932416K20Rik |
G |
A |
8: 105,524,271 (GRCm39) |
|
noncoding transcript |
Het |
| Abcg8 |
A |
T |
17: 84,994,127 (GRCm39) |
E48V |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,911,406 (GRCm39) |
T289A |
probably benign |
Het |
| Atf6 |
T |
A |
1: 170,574,758 (GRCm39) |
D560V |
probably damaging |
Het |
| Bcl2l14 |
A |
T |
6: 134,404,362 (GRCm39) |
K183N |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,730,696 (GRCm39) |
L52P |
probably damaging |
Het |
| Cct3 |
T |
A |
3: 88,208,274 (GRCm39) |
N61K |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 77,002,177 (GRCm39) |
V10A |
unknown |
Het |
| Col26a1 |
G |
A |
5: 136,876,420 (GRCm39) |
Q67* |
probably null |
Het |
| Cyp2d34 |
T |
C |
15: 82,501,341 (GRCm39) |
D329G |
probably null |
Het |
| Dchs1 |
T |
A |
7: 105,422,247 (GRCm39) |
I58F |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,401,931 (GRCm39) |
L269P |
probably damaging |
Het |
| Dis3l2 |
G |
A |
1: 86,806,154 (GRCm39) |
G325D |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,612,707 (GRCm39) |
K2861* |
probably null |
Het |
| Ednra |
A |
G |
8: 78,401,696 (GRCm39) |
I198T |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,524,115 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
A |
13: 49,034,409 (GRCm39) |
P1068S |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,815,084 (GRCm39) |
M3606L |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,953,413 (GRCm39) |
W238R |
probably damaging |
Het |
| Gm7713 |
T |
C |
15: 59,866,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gprin3 |
A |
T |
6: 59,331,398 (GRCm39) |
V303D |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,570,629 (GRCm39) |
V2178D |
possibly damaging |
Het |
| Hoxa11 |
A |
G |
6: 52,222,380 (GRCm39) |
V107A |
possibly damaging |
Het |
| Iqub |
C |
A |
6: 24,454,250 (GRCm39) |
M544I |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,879,258 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
A |
G |
1: 180,161,818 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,190 (GRCm39) |
V1195E |
probably damaging |
Het |
| Kif12 |
C |
A |
4: 63,084,178 (GRCm39) |
R608M |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,952,709 (GRCm39) |
|
probably null |
Het |
| Lrrc24 |
T |
C |
15: 76,606,910 (GRCm39) |
E162G |
probably damaging |
Het |
| Med6 |
A |
G |
12: 81,626,418 (GRCm39) |
S119P |
probably damaging |
Het |
| Mmab |
A |
C |
5: 114,574,775 (GRCm39) |
L166R |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,566 (GRCm39) |
R112G |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,651,873 (GRCm39) |
K737R |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,946,970 (GRCm39) |
S4352G |
probably damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,517 (GRCm39) |
T262S |
probably benign |
Het |
| Or2w25 |
T |
A |
11: 59,504,712 (GRCm39) |
D307E |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,057 (GRCm39) |
Y218* |
probably null |
Het |
| Or6d12 |
A |
C |
6: 116,492,912 (GRCm39) |
D58A |
possibly damaging |
Het |
| Pdzrn3 |
G |
A |
6: 101,149,275 (GRCm39) |
S351L |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,597,252 (GRCm39) |
I2804K |
possibly damaging |
Het |
| Psg28 |
A |
G |
7: 18,164,640 (GRCm39) |
L24P |
probably damaging |
Het |
| Resp18 |
A |
G |
1: 75,250,644 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rgl3 |
T |
C |
9: 21,892,908 (GRCm39) |
M259V |
probably benign |
Het |
| Ring1 |
T |
C |
17: 34,241,282 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,137,265 (GRCm39) |
Y216C |
probably damaging |
Het |
| Scgb2b18 |
G |
A |
7: 32,873,255 (GRCm39) |
L5F |
unknown |
Het |
| Slamf7 |
T |
C |
1: 171,466,838 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
T |
C |
19: 6,590,479 (GRCm39) |
N237S |
possibly damaging |
Het |
| Spen |
A |
T |
4: 141,205,495 (GRCm39) |
V1044D |
unknown |
Het |
| Sqor |
A |
T |
2: 122,651,261 (GRCm39) |
M175L |
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tars3 |
T |
G |
7: 65,333,873 (GRCm39) |
F632V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,191 (GRCm39) |
V1008A |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,015,039 (GRCm39) |
H554R |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,195,744 (GRCm39) |
D1256V |
possibly damaging |
Het |
| Trbv19 |
A |
G |
6: 41,155,794 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Ttc23l |
C |
T |
15: 10,551,555 (GRCm39) |
C57Y |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,988,949 (GRCm39) |
C158S |
probably benign |
Het |
| Zfp353-ps |
T |
A |
8: 42,535,647 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp629 |
T |
A |
7: 127,210,307 (GRCm39) |
I501F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,037,702 (GRCm39) |
Y542C |
probably damaging |
Het |
|
| Other mutations in Rhot2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Rhot2
|
APN |
17 |
26,060,334 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02707:Rhot2
|
APN |
17 |
26,063,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Rhot2
|
APN |
17 |
26,060,115 (GRCm39) |
unclassified |
probably benign |
|
|
Endless
|
UTSW |
17 |
26,059,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
eternal
|
UTSW |
17 |
26,061,402 (GRCm39) |
splice site |
probably null |
|
|
ewige
|
UTSW |
17 |
26,058,394 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0634:Rhot2
|
UTSW |
17 |
26,061,002 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1233:Rhot2
|
UTSW |
17 |
26,063,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Rhot2
|
UTSW |
17 |
26,060,374 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2902:Rhot2
|
UTSW |
17 |
26,062,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3617:Rhot2
|
UTSW |
17 |
26,059,955 (GRCm39) |
unclassified |
probably benign |
|
|
R3767:Rhot2
|
UTSW |
17 |
26,059,521 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3768:Rhot2
|
UTSW |
17 |
26,059,521 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3769:Rhot2
|
UTSW |
17 |
26,059,521 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3770:Rhot2
|
UTSW |
17 |
26,059,521 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4362:Rhot2
|
UTSW |
17 |
26,061,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4487:Rhot2
|
UTSW |
17 |
26,058,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4670:Rhot2
|
UTSW |
17 |
26,060,305 (GRCm39) |
unclassified |
probably benign |
|
|
R4749:Rhot2
|
UTSW |
17 |
26,063,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Rhot2
|
UTSW |
17 |
26,059,032 (GRCm39) |
missense |
probably benign |
|
|
R5993:Rhot2
|
UTSW |
17 |
26,060,085 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6479:Rhot2
|
UTSW |
17 |
26,060,054 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6523:Rhot2
|
UTSW |
17 |
26,058,394 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6597:Rhot2
|
UTSW |
17 |
26,059,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Rhot2
|
UTSW |
17 |
26,061,402 (GRCm39) |
splice site |
probably null |
|
|
R7427:Rhot2
|
UTSW |
17 |
26,060,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Rhot2
|
UTSW |
17 |
26,059,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Rhot2
|
UTSW |
17 |
26,062,079 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8176:Rhot2
|
UTSW |
17 |
26,063,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8258:Rhot2
|
UTSW |
17 |
26,058,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8259:Rhot2
|
UTSW |
17 |
26,058,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9264:Rhot2
|
UTSW |
17 |
26,060,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9409:Rhot2
|
UTSW |
17 |
26,060,085 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0067:Rhot2
|
UTSW |
17 |
26,060,440 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Y5409:Rhot2
|
UTSW |
17 |
26,063,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rhot2
|
UTSW |
17 |
26,059,657 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTACAGCTCTGACACCTTTG -3'
(R):5'- CCAAGACCTTTGTACACTGTGC -3'
Sequencing Primer
(F):5'- TCTGACACCTTTGTACCCAGACAG -3'
(R):5'- GTACACTGTGCTACCATATACAAGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation