Incidental Mutation 'IGL03348:Slc25a11'
ID |
419588 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc25a11
|
Ensembl Gene |
ENSMUSG00000014606 |
Gene Name |
solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 |
Synonyms |
2310022P18Rik, 2oxoc |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
IGL03348
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
70535022-70538305 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 70536170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115057
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000037534]
[ENSMUST00000055184]
[ENSMUST00000108551]
[ENSMUST00000139638]
[ENSMUST00000141695]
[ENSMUST00000136383]
[ENSMUST00000152160]
|
AlphaFold |
Q9CR62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014750
|
SMART Domains |
Protein: ENSMUSP00000014750 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
18 |
112 |
1.3e-22 |
PFAM |
Pfam:Mito_carr
|
115 |
213 |
2.6e-19 |
PFAM |
Pfam:Mito_carr
|
216 |
311 |
5.2e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037534
|
SMART Domains |
Protein: ENSMUSP00000036472 Gene: ENSMUSG00000040746
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:PA
|
53 |
150 |
1.4e-14 |
PFAM |
transmembrane domain
|
172 |
194 |
N/A |
INTRINSIC |
RING
|
230 |
271 |
2.65e-9 |
SMART |
low complexity region
|
278 |
303 |
N/A |
INTRINSIC |
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055184
|
SMART Domains |
Protein: ENSMUSP00000057563 Gene: ENSMUSG00000050675
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
LRRNT
|
19 |
51 |
1.66e-1 |
SMART |
LRR
|
70 |
91 |
2.54e2 |
SMART |
LRR
|
92 |
114 |
9.96e-1 |
SMART |
LRR_TYP
|
115 |
138 |
1.56e-2 |
SMART |
LRR_TYP
|
139 |
162 |
1.47e-3 |
SMART |
LRR
|
163 |
186 |
1.89e-1 |
SMART |
LRR
|
187 |
210 |
8.09e-1 |
SMART |
LRRCT
|
221 |
281 |
2.53e-12 |
SMART |
low complexity region
|
403 |
432 |
N/A |
INTRINSIC |
low complexity region
|
446 |
530 |
N/A |
INTRINSIC |
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
PDB:2BP3|T
|
680 |
701 |
2e-6 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108551
|
SMART Domains |
Protein: ENSMUSP00000104191 Gene: ENSMUSG00000050675
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
LRRNT
|
19 |
51 |
1.66e-1 |
SMART |
LRR
|
70 |
91 |
2.54e2 |
SMART |
LRR
|
92 |
114 |
9.96e-1 |
SMART |
LRR_TYP
|
115 |
138 |
1.56e-2 |
SMART |
LRR_TYP
|
139 |
162 |
1.47e-3 |
SMART |
LRR
|
163 |
186 |
1.89e-1 |
SMART |
LRR
|
187 |
210 |
8.09e-1 |
SMART |
LRRCT
|
221 |
281 |
2.53e-12 |
SMART |
low complexity region
|
403 |
432 |
N/A |
INTRINSIC |
low complexity region
|
446 |
530 |
N/A |
INTRINSIC |
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
transmembrane domain
|
612 |
634 |
N/A |
INTRINSIC |
low complexity region
|
650 |
662 |
N/A |
INTRINSIC |
PDB:2BP3|T
|
680 |
701 |
2e-6 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139638
|
SMART Domains |
Protein: ENSMUSP00000114685 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
80 |
7.4e-17 |
PFAM |
Pfam:Mito_carr
|
83 |
181 |
1.1e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141695
|
SMART Domains |
Protein: ENSMUSP00000121511 Gene: ENSMUSG00000040746
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136383
|
SMART Domains |
Protein: ENSMUSP00000120900 Gene: ENSMUSG00000014606
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152160
|
SMART Domains |
Protein: ENSMUSP00000115057 Gene: ENSMUSG00000040746
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330008L17Rik |
A |
C |
8: 100,148,324 (GRCm39) |
|
noncoding transcript |
Het |
Actmap |
T |
G |
7: 26,896,545 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,647,177 (GRCm39) |
N3121S |
possibly damaging |
Het |
Aldh16a1 |
C |
T |
7: 44,791,399 (GRCm39) |
R102Q |
possibly damaging |
Het |
Atp9b |
A |
T |
18: 80,879,637 (GRCm39) |
I346K |
possibly damaging |
Het |
Baiap2l1 |
T |
C |
5: 144,215,341 (GRCm39) |
K388R |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,966,778 (GRCm39) |
I303S |
probably damaging |
Het |
Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,600,712 (GRCm39) |
S791P |
possibly damaging |
Het |
Ctsz |
T |
A |
2: 174,270,490 (GRCm39) |
I231F |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,965,960 (GRCm39) |
T2431A |
probably damaging |
Het |
Eif4b |
T |
C |
15: 102,001,466 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,483,809 (GRCm39) |
I67V |
possibly damaging |
Het |
Exoc1 |
T |
A |
5: 76,683,440 (GRCm39) |
V55D |
probably damaging |
Het |
Exosc8 |
A |
T |
3: 54,640,143 (GRCm39) |
D72E |
possibly damaging |
Het |
F5 |
C |
T |
1: 164,021,721 (GRCm39) |
P1399S |
possibly damaging |
Het |
Fmo1 |
T |
A |
1: 162,677,720 (GRCm39) |
N132I |
possibly damaging |
Het |
Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
Glb1l2 |
T |
C |
9: 26,676,976 (GRCm39) |
D415G |
probably benign |
Het |
Gphn |
T |
A |
12: 78,673,893 (GRCm39) |
H498Q |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,153 (GRCm39) |
N342S |
probably benign |
Het |
Mbnl3 |
G |
A |
X: 50,253,425 (GRCm39) |
T16I |
probably damaging |
Het |
Mrps5 |
T |
G |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
Neu4 |
A |
G |
1: 93,952,696 (GRCm39) |
Y355C |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,941,188 (GRCm39) |
D5105E |
probably damaging |
Het |
Or4ac1-ps1 |
T |
C |
2: 88,370,485 (GRCm39) |
|
noncoding transcript |
Het |
Or4f56 |
C |
A |
2: 111,703,493 (GRCm39) |
A236S |
probably damaging |
Het |
Or4k15b |
A |
G |
14: 50,272,212 (GRCm39) |
I216T |
probably benign |
Het |
Or5p73 |
A |
G |
7: 108,064,615 (GRCm39) |
D28G |
probably benign |
Het |
Parp1 |
T |
A |
1: 180,405,272 (GRCm39) |
|
probably benign |
Het |
Plac1 |
A |
T |
X: 52,159,517 (GRCm39) |
N64K |
probably damaging |
Het |
Plcd1 |
C |
A |
9: 118,901,558 (GRCm39) |
K655N |
possibly damaging |
Het |
Psme4 |
T |
C |
11: 30,826,796 (GRCm39) |
S1772P |
probably damaging |
Het |
Shcbp1 |
C |
T |
8: 4,815,089 (GRCm39) |
V130I |
probably benign |
Het |
Svep1 |
C |
T |
4: 58,113,635 (GRCm39) |
G1004E |
probably damaging |
Het |
Tars2 |
T |
C |
3: 95,647,580 (GRCm39) |
|
probably null |
Het |
Tbc1d12 |
C |
T |
19: 38,905,064 (GRCm39) |
T593I |
probably damaging |
Het |
Tcerg1l |
T |
A |
7: 137,815,100 (GRCm39) |
E526D |
probably damaging |
Het |
Tmcc3 |
G |
A |
10: 94,414,942 (GRCm39) |
V215M |
possibly damaging |
Het |
Trappc8 |
T |
C |
18: 20,985,838 (GRCm39) |
D601G |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,281,313 (GRCm39) |
N971K |
probably damaging |
Het |
Ube2g2 |
A |
T |
10: 77,466,711 (GRCm39) |
E36D |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,308,300 (GRCm39) |
R360S |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,594,179 (GRCm39) |
V2182A |
probably benign |
Het |
|
Other mutations in Slc25a11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03087:Slc25a11
|
APN |
11 |
70,536,033 (GRCm39) |
missense |
probably benign |
0.09 |
R0448:Slc25a11
|
UTSW |
11 |
70,536,405 (GRCm39) |
missense |
probably benign |
0.43 |
R1368:Slc25a11
|
UTSW |
11 |
70,536,352 (GRCm39) |
splice site |
probably null |
|
R1505:Slc25a11
|
UTSW |
11 |
70,537,650 (GRCm39) |
missense |
probably benign |
|
R1781:Slc25a11
|
UTSW |
11 |
70,535,651 (GRCm39) |
missense |
probably benign |
0.44 |
R1970:Slc25a11
|
UTSW |
11 |
70,536,999 (GRCm39) |
missense |
probably benign |
0.25 |
R2508:Slc25a11
|
UTSW |
11 |
70,536,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4397:Slc25a11
|
UTSW |
11 |
70,535,677 (GRCm39) |
missense |
probably benign |
0.01 |
R4747:Slc25a11
|
UTSW |
11 |
70,536,782 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5177:Slc25a11
|
UTSW |
11 |
70,536,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R5243:Slc25a11
|
UTSW |
11 |
70,536,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R5296:Slc25a11
|
UTSW |
11 |
70,537,011 (GRCm39) |
missense |
probably damaging |
0.97 |
R5510:Slc25a11
|
UTSW |
11 |
70,536,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R5662:Slc25a11
|
UTSW |
11 |
70,536,245 (GRCm39) |
nonsense |
probably null |
|
R5771:Slc25a11
|
UTSW |
11 |
70,537,016 (GRCm39) |
missense |
probably damaging |
0.97 |
R7287:Slc25a11
|
UTSW |
11 |
70,536,181 (GRCm39) |
missense |
probably benign |
|
R7799:Slc25a11
|
UTSW |
11 |
70,536,005 (GRCm39) |
missense |
probably benign |
|
R7860:Slc25a11
|
UTSW |
11 |
70,536,005 (GRCm39) |
missense |
probably benign |
|
R8694:Slc25a11
|
UTSW |
11 |
70,535,630 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Slc25a11
|
UTSW |
11 |
70,535,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2016-08-02 |