Incidental Mutation 'R4397:Slc25a11'
| ID |
325548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a11
|
| Ensembl Gene |
ENSMUSG00000014606 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 |
| Synonyms |
2310022P18Rik, 2oxoc |
| MMRRC Submission |
041685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R4397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70535022-70538305 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70535677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 287
(A287V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000037534]
[ENSMUST00000055184]
[ENSMUST00000108551]
[ENSMUST00000136383]
[ENSMUST00000141695]
[ENSMUST00000152160]
[ENSMUST00000139638]
|
| AlphaFold |
Q9CR62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014750
AA Change: A287V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: A287V
| 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: ENSMUST00000136383
|
| SMART Domains |
Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
| 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: ENSMUST00000152160
|
| SMART Domains |
Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0644 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (55/57) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,926,352 (GRCm39) |
A866T |
unknown |
Het |
| Aig1 |
A |
C |
10: 13,528,726 (GRCm39) |
S237A |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,273,300 (GRCm39) |
R1475W |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,727,982 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Dnajc15 |
T |
C |
14: 78,112,234 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,320,525 (GRCm39) |
H1334L |
probably benign |
Het |
| Fancg |
A |
T |
4: 43,008,897 (GRCm39) |
H113Q |
probably benign |
Het |
| Gfap |
G |
A |
11: 102,787,810 (GRCm39) |
A45V |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 98,873,247 (GRCm39) |
L199Q |
probably damaging |
Het |
| Gvin-ps3 |
A |
G |
7: 105,682,130 (GRCm39) |
|
noncoding transcript |
Het |
| H13 |
A |
G |
2: 152,519,472 (GRCm39) |
D65G |
probably damaging |
Het |
| Hcls1 |
T |
C |
16: 36,757,662 (GRCm39) |
V5A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
T |
C |
3: 88,011,665 (GRCm39) |
Y817H |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,537,382 (GRCm39) |
Y904C |
probably damaging |
Het |
| Kremen1 |
A |
T |
11: 5,149,610 (GRCm39) |
S354T |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,342,015 (GRCm39) |
V1876A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 104,127,030 (GRCm39) |
T85A |
probably damaging |
Het |
| Map3k12 |
C |
T |
15: 102,409,694 (GRCm39) |
A694T |
probably benign |
Het |
| Mex3b |
T |
C |
7: 82,519,031 (GRCm39) |
S449P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nars2 |
T |
C |
7: 96,622,771 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
G |
11: 70,988,030 (GRCm39) |
M1046L |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,181,390 (GRCm39) |
|
probably null |
Het |
| Nup133 |
G |
A |
8: 124,671,040 (GRCm39) |
T119M |
probably benign |
Het |
| Or6c201 |
G |
T |
10: 128,969,450 (GRCm39) |
N62K |
possibly damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,694 (GRCm39) |
I508F |
probably damaging |
Het |
| Phactr3 |
A |
G |
2: 177,817,199 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,943,193 (GRCm39) |
K155E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,263,854 (GRCm39) |
Y286C |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,623 (GRCm39) |
S45P |
possibly damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,654,507 (GRCm39) |
P820Q |
probably damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,681,319 (GRCm39) |
V105A |
probably damaging |
Het |
| Rnf7 |
A |
G |
9: 96,360,463 (GRCm39) |
M58T |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,377,423 (GRCm39) |
|
probably null |
Het |
| Suco |
A |
G |
1: 161,672,421 (GRCm39) |
Y460H |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpv6 |
A |
G |
6: 41,602,172 (GRCm39) |
I379T |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Virma |
A |
G |
4: 11,513,901 (GRCm39) |
E585G |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,655,435 (GRCm39) |
D549V |
probably damaging |
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 |
|
IGL03348:Slc25a11
|
APN |
11 |
70,536,170 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCCAGGGTAGCAGAATC -3'
(R):5'- CGGATGATTGATGGGAAGCC -3'
Sequencing Primer
(F):5'- GTAGCAGAATCCAGGTCCTC -3'
(R):5'- TGATTGATGGGAAGCCAGAATAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation