Incidental Mutation 'R4445:Slc25a54'
| ID |
329824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a54
|
| Ensembl Gene |
ENSMUSG00000027880 |
| Gene Name |
solute carrier family 25, member 54 |
| Synonyms |
4930443G12Rik, SCaMC-1like |
| MMRRC Submission |
041151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R4445 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108987815-109023898 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109005984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 164
(R164H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029478]
[ENSMUST00000159926]
|
| AlphaFold |
B1AUS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029478
AA Change: R164H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029478
Gene: ENSMUSG00000027880
AA Change: R164H
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
23 |
51 |
4.28e0 |
SMART |
|
EFh
|
59 |
87 |
3.82e0 |
SMART |
|
EFh
|
90 |
118 |
4.12e-3 |
SMART |
|
EFh
|
126 |
154 |
3.44e1 |
SMART |
|
Pfam:Mito_carr
|
191 |
283 |
3.7e-25 |
PFAM |
|
Pfam:Mito_carr
|
284 |
376 |
7.2e-24 |
PFAM |
|
Pfam:Mito_carr
|
383 |
472 |
2.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159926
|
| SMART Domains |
Protein: ENSMUSP00000124484
Gene: ENSMUSG00000027880
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:EFh
|
1 |
21 |
6e-9 |
BLAST |
|
Pfam:Mito_carr
|
57 |
150 |
3.2e-26 |
PFAM |
|
Pfam:Mito_carr
|
151 |
243 |
3.6e-25 |
PFAM |
|
Pfam:Mito_carr
|
249 |
339 |
1.5e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,489 (GRCm39) |
L962P |
probably damaging |
Het |
| Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
| Calcoco1 |
A |
G |
15: 102,624,175 (GRCm39) |
|
probably null |
Het |
| Cd59a |
A |
G |
2: 103,941,163 (GRCm39) |
Q47R |
probably benign |
Het |
| Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
| Cfap45 |
G |
A |
1: 172,362,794 (GRCm39) |
V262M |
probably benign |
Het |
| Chd8 |
A |
T |
14: 52,441,984 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
T |
6: 46,736,785 (GRCm39) |
T737I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,281,672 (GRCm39) |
D2837G |
unknown |
Het |
| Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
| Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
| Cyp4a12a |
G |
A |
4: 115,183,980 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
| Ddx56 |
A |
T |
11: 6,215,770 (GRCm39) |
|
probably null |
Het |
| Dync2i1 |
G |
A |
12: 116,171,335 (GRCm39) |
A967V |
probably damaging |
Het |
| Elmod1 |
T |
A |
9: 53,841,413 (GRCm39) |
D93V |
probably damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,319,701 (GRCm39) |
L178P |
possibly damaging |
Het |
| Flacc1 |
A |
T |
1: 58,706,080 (GRCm39) |
I263K |
possibly damaging |
Het |
| Galnt10 |
T |
A |
11: 57,674,517 (GRCm39) |
V502D |
probably damaging |
Het |
| Gm11735 |
T |
C |
11: 116,629,888 (GRCm39) |
|
noncoding transcript |
Het |
| H4c12 |
T |
C |
13: 21,934,513 (GRCm39) |
T55A |
possibly damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
| Ip6k3 |
A |
G |
17: 27,364,076 (GRCm39) |
I324T |
probably benign |
Het |
| Klkb1 |
C |
T |
8: 45,730,092 (GRCm39) |
S263N |
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,582,180 (GRCm39) |
C602* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,884,149 (GRCm39) |
S2986P |
probably benign |
Het |
| Mapkapk5 |
T |
C |
5: 121,663,291 (GRCm39) |
T445A |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,715,611 (GRCm39) |
D63G |
probably damaging |
Het |
| Nscme3l |
A |
T |
19: 5,553,022 (GRCm39) |
V253D |
probably damaging |
Het |
| Nsun2 |
G |
A |
13: 69,777,840 (GRCm39) |
|
probably null |
Het |
| Or13a24 |
C |
A |
7: 140,154,302 (GRCm39) |
P79T |
probably damaging |
Het |
| Or1ak2 |
T |
G |
2: 36,827,563 (GRCm39) |
L144R |
probably damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,005 (GRCm39) |
L101P |
possibly damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,907,253 (GRCm39) |
F173L |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,499,035 (GRCm39) |
I531V |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,442,135 (GRCm39) |
M1394V |
probably benign |
Het |
| Setd1b |
G |
T |
5: 123,286,167 (GRCm39) |
E404D |
unknown |
Het |
| Slc2a13 |
A |
G |
15: 91,234,223 (GRCm39) |
V371A |
possibly damaging |
Het |
| Spag9 |
C |
G |
11: 93,988,079 (GRCm39) |
L798V |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,172,980 (GRCm39) |
S484T |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,776,345 (GRCm39) |
R399Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,615,177 (GRCm39) |
V16847A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
| Vmn1r11 |
T |
G |
6: 57,114,515 (GRCm39) |
L23V |
probably benign |
Het |
| Vmn2r59 |
C |
T |
7: 41,691,874 (GRCm39) |
C541Y |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,214,874 (GRCm39) |
T286P |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,889,777 (GRCm39) |
|
probably null |
Het |
| Ypel1 |
A |
T |
16: 16,921,464 (GRCm39) |
Y73* |
probably null |
Het |
| Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
probably benign |
Het |
|
| Other mutations in Slc25a54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Slc25a54
|
APN |
3 |
109,020,176 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02635:Slc25a54
|
APN |
3 |
109,020,133 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02944:Slc25a54
|
APN |
3 |
108,987,931 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02987:Slc25a54
|
APN |
3 |
109,023,653 (GRCm39) |
missense |
probably benign |
|
|
IGL03346:Slc25a54
|
APN |
3 |
108,993,046 (GRCm39) |
intron |
probably benign |
|
|
R0491:Slc25a54
|
UTSW |
3 |
109,010,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0520:Slc25a54
|
UTSW |
3 |
109,014,546 (GRCm39) |
splice site |
probably benign |
|
|
R0645:Slc25a54
|
UTSW |
3 |
109,019,481 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1803:Slc25a54
|
UTSW |
3 |
109,010,013 (GRCm39) |
missense |
probably benign |
|
|
R1869:Slc25a54
|
UTSW |
3 |
108,987,932 (GRCm39) |
nonsense |
probably null |
|
|
R1870:Slc25a54
|
UTSW |
3 |
108,987,932 (GRCm39) |
nonsense |
probably null |
|
|
R3024:Slc25a54
|
UTSW |
3 |
108,987,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3763:Slc25a54
|
UTSW |
3 |
109,019,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3930:Slc25a54
|
UTSW |
3 |
109,023,820 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3941:Slc25a54
|
UTSW |
3 |
109,019,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4346:Slc25a54
|
UTSW |
3 |
109,010,055 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4347:Slc25a54
|
UTSW |
3 |
109,010,055 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4735:Slc25a54
|
UTSW |
3 |
109,005,923 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4914:Slc25a54
|
UTSW |
3 |
109,018,395 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4960:Slc25a54
|
UTSW |
3 |
109,020,132 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5052:Slc25a54
|
UTSW |
3 |
109,010,016 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5106:Slc25a54
|
UTSW |
3 |
109,020,180 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5806:Slc25a54
|
UTSW |
3 |
108,987,894 (GRCm39) |
missense |
probably benign |
|
|
R5936:Slc25a54
|
UTSW |
3 |
109,005,954 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6511:Slc25a54
|
UTSW |
3 |
109,001,572 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6532:Slc25a54
|
UTSW |
3 |
109,019,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Slc25a54
|
UTSW |
3 |
109,020,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7139:Slc25a54
|
UTSW |
3 |
109,005,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Slc25a54
|
UTSW |
3 |
109,014,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Slc25a54
|
UTSW |
3 |
109,023,817 (GRCm39) |
nonsense |
probably null |
|
|
R7336:Slc25a54
|
UTSW |
3 |
109,023,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7355:Slc25a54
|
UTSW |
3 |
109,010,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7713:Slc25a54
|
UTSW |
3 |
109,010,133 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8061:Slc25a54
|
UTSW |
3 |
109,018,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8282:Slc25a54
|
UTSW |
3 |
109,006,005 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9095:Slc25a54
|
UTSW |
3 |
109,019,404 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9156:Slc25a54
|
UTSW |
3 |
109,001,548 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9568:Slc25a54
|
UTSW |
3 |
109,005,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc25a54
|
UTSW |
3 |
109,019,434 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Slc25a54
|
UTSW |
3 |
109,010,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTTCAGGAACAAACACTCC -3'
(R):5'- TGACTTATAACATAGAGTGGGTCG -3'
Sequencing Primer
(F):5'- ACTCCACAAGTGTTTGAGTAGTG -3'
(R):5'- AACATAGAGTGGGTCGTTTTAGTAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation