Incidental Mutation 'R5296:Slc25a11'
ID |
405431 |
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 |
042879-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
R5296 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70535022-70538305 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70537011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 15
(N15D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000037534]
[ENSMUST00000055184]
[ENSMUST00000108551]
[ENSMUST00000136383]
[ENSMUST00000139638]
[ENSMUST00000152160]
[ENSMUST00000141695]
|
AlphaFold |
Q9CR62 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014750
AA Change: N47D
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000014750 Gene: ENSMUSG00000014606 AA Change: N47D
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 damaging
Transcript: ENSMUST00000136383
AA Change: N15D
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120900 Gene: ENSMUSG00000014606 AA Change: N15D
Domain | Start | End | E-Value | Type |
Pfam:Mito_carr
|
1 |
75 |
9.2e-18 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139638
AA Change: N15D
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000114685 Gene: ENSMUSG00000014606 AA Change: N15D
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: ENSMUST00000141537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
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: ENSMUST00000141695
|
SMART Domains |
Protein: ENSMUSP00000121511 Gene: ENSMUSG00000040746
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3751 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
Validation Efficiency |
100% (65/65) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apobr |
A |
C |
7: 126,187,196 (GRCm39) |
D89A |
probably damaging |
Het |
Bhlhe41 |
C |
T |
6: 145,808,694 (GRCm39) |
|
probably benign |
Het |
Cacna1s |
G |
A |
1: 136,023,523 (GRCm39) |
V674M |
probably benign |
Het |
Cavin2 |
T |
C |
1: 51,329,029 (GRCm39) |
|
probably null |
Het |
Cd300lb |
T |
C |
11: 114,815,763 (GRCm39) |
S106G |
possibly damaging |
Het |
Ceacam15 |
A |
G |
7: 16,407,121 (GRCm39) |
V132A |
probably benign |
Het |
Ddi2 |
G |
T |
4: 141,412,076 (GRCm39) |
Q279K |
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,847,151 (GRCm39) |
V4304A |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Epsti1 |
T |
A |
14: 78,142,090 (GRCm39) |
H55Q |
probably benign |
Het |
Flad1 |
T |
C |
3: 89,318,503 (GRCm39) |
T17A |
probably damaging |
Het |
Fzd2 |
C |
T |
11: 102,496,981 (GRCm39) |
T475M |
probably damaging |
Het |
Gemin5 |
C |
A |
11: 58,020,887 (GRCm39) |
W1099L |
probably damaging |
Het |
Gm9892 |
T |
C |
8: 52,649,964 (GRCm39) |
|
noncoding transcript |
Het |
Gmeb2 |
A |
G |
2: 180,897,779 (GRCm39) |
|
probably benign |
Het |
Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
Gvin-ps3 |
A |
T |
7: 105,681,055 (GRCm39) |
|
noncoding transcript |
Het |
Hltf |
T |
C |
3: 20,162,276 (GRCm39) |
S825P |
probably damaging |
Het |
Kcnh3 |
A |
T |
15: 99,139,820 (GRCm39) |
Q902L |
probably null |
Het |
Kcnt2 |
C |
T |
1: 140,537,353 (GRCm39) |
P1037L |
probably damaging |
Het |
Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
Lama5 |
A |
C |
2: 179,835,594 (GRCm39) |
L1253R |
probably damaging |
Het |
Lancl2 |
T |
G |
6: 57,701,567 (GRCm39) |
S230A |
probably benign |
Het |
Lmcd1 |
A |
G |
6: 112,292,549 (GRCm39) |
M134V |
probably damaging |
Het |
Lrrc23 |
C |
A |
6: 124,751,445 (GRCm39) |
A205S |
probably damaging |
Het |
Mfsd13b |
T |
A |
7: 120,590,961 (GRCm39) |
I234N |
probably damaging |
Het |
Mroh3 |
A |
G |
1: 136,124,061 (GRCm39) |
S386P |
probably damaging |
Het |
Mylk3 |
A |
C |
8: 86,082,060 (GRCm39) |
F313V |
possibly damaging |
Het |
Myo9b |
A |
T |
8: 71,786,032 (GRCm39) |
Q643L |
possibly damaging |
Het |
Nacad |
T |
C |
11: 6,555,745 (GRCm39) |
S2G |
unknown |
Het |
Olfr908 |
T |
C |
9: 38,427,412 (GRCm39) |
F28S |
probably damaging |
Het |
Or10z1 |
G |
T |
1: 174,078,322 (GRCm39) |
T57K |
possibly damaging |
Het |
Or2n1d |
C |
T |
17: 38,646,347 (GRCm39) |
Q100* |
probably null |
Het |
Or4x6 |
A |
T |
2: 89,949,043 (GRCm39) |
W300R |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,795,048 (GRCm39) |
V2245A |
probably damaging |
Het |
Pkdrej |
G |
A |
15: 85,701,319 (GRCm39) |
T1539I |
possibly damaging |
Het |
Plch2 |
G |
T |
4: 155,074,456 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,434,609 (GRCm39) |
R34H |
probably damaging |
Het |
Rgs12 |
T |
C |
5: 35,178,448 (GRCm39) |
|
probably benign |
Het |
Ruvbl1 |
T |
C |
6: 88,462,890 (GRCm39) |
I338T |
probably damaging |
Het |
Sapcd1 |
T |
A |
17: 35,245,707 (GRCm39) |
Q104L |
probably damaging |
Het |
Satb2 |
T |
C |
1: 56,836,066 (GRCm39) |
E575G |
probably damaging |
Het |
Sema6b |
T |
A |
17: 56,434,091 (GRCm39) |
|
probably null |
Het |
Slc26a6 |
C |
T |
9: 108,737,845 (GRCm39) |
T526M |
probably damaging |
Het |
Tcaf3 |
G |
T |
6: 42,564,444 (GRCm39) |
T906K |
possibly damaging |
Het |
Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
Traf2 |
A |
G |
2: 25,410,452 (GRCm39) |
L399P |
probably damaging |
Het |
Troap |
T |
A |
15: 98,976,698 (GRCm39) |
V274D |
probably damaging |
Het |
Utrn |
G |
A |
10: 12,277,099 (GRCm39) |
T3406M |
probably damaging |
Het |
Uts2 |
G |
T |
4: 151,083,508 (GRCm39) |
A40S |
possibly damaging |
Het |
Vmn2r109 |
T |
A |
17: 20,774,603 (GRCm39) |
I251F |
possibly damaging |
Het |
Vmn2r67 |
A |
G |
7: 84,786,230 (GRCm39) |
S592P |
probably damaging |
Het |
Vps13b |
T |
G |
15: 35,876,559 (GRCm39) |
W2797G |
probably damaging |
Het |
Ythdf1 |
A |
T |
2: 180,553,981 (GRCm39) |
M51K |
probably damaging |
Het |
Zfp60 |
T |
A |
7: 27,437,955 (GRCm39) |
|
probably benign |
Het |
Zfp882 |
T |
A |
8: 72,668,204 (GRCm39) |
F344I |
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 |
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 |
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'- AGAAATGTCAGCACATCAGGC -3'
(R):5'- CTTACTGGGCAACTGGACTC -3'
Sequencing Primer
(F):5'- TGTCAGCACATCAGGCCAAGG -3'
(R):5'- GGCAACTGGACTCTTTTGC -3'
|
Posted On |
2016-07-22 |