Incidental Mutation 'R1368:Slc25a11'
ID |
155889 |
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 |
039433-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
R1368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70535022-70538305 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to A
at 70536352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000014750]
[ENSMUST00000037534]
[ENSMUST00000055184]
[ENSMUST00000108551]
[ENSMUST00000136383]
[ENSMUST00000139638]
[ENSMUST00000139638]
[ENSMUST00000152160]
[ENSMUST00000141695]
|
AlphaFold |
Q9CR62 |
Predicted Effect |
probably null
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 null
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: 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 null
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 |
probably null
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: ENSMUST00000152458
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141237
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
Validation Efficiency |
98% (55/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,241,836 (GRCm39) |
D1233G |
probably benign |
Het |
Abcc8 |
G |
A |
7: 45,772,284 (GRCm39) |
R832W |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,092,981 (GRCm39) |
T439A |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,693,796 (GRCm39) |
S1966I |
probably damaging |
Het |
C130073F10Rik |
T |
A |
4: 101,747,953 (GRCm39) |
N74Y |
possibly damaging |
Het |
Cct8 |
G |
A |
16: 87,288,200 (GRCm39) |
S124L |
probably damaging |
Het |
Cdh9 |
T |
A |
15: 16,848,568 (GRCm39) |
|
probably benign |
Het |
Cep290 |
C |
T |
10: 100,330,828 (GRCm39) |
|
probably benign |
Het |
Chrng |
T |
A |
1: 87,133,575 (GRCm39) |
L10H |
probably damaging |
Het |
Cnn3 |
T |
C |
3: 121,250,786 (GRCm39) |
L189S |
probably benign |
Het |
Cog4 |
A |
G |
8: 111,585,157 (GRCm39) |
|
probably benign |
Het |
Cxcl12 |
A |
G |
6: 117,153,111 (GRCm39) |
|
probably benign |
Het |
Eif2b2 |
G |
A |
12: 85,270,230 (GRCm39) |
A257T |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,469,625 (GRCm39) |
V41E |
probably damaging |
Het |
Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
Fcgbpl1 |
A |
G |
7: 27,858,903 (GRCm39) |
Q2341R |
possibly damaging |
Het |
Fktn |
G |
A |
4: 53,734,880 (GRCm39) |
G173R |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,674,464 (GRCm39) |
N841S |
probably benign |
Het |
Gm5622 |
T |
A |
14: 51,899,647 (GRCm39) |
V167E |
possibly damaging |
Het |
Gnaq |
T |
C |
19: 16,355,651 (GRCm39) |
V289A |
probably benign |
Het |
Gpatch2l |
T |
G |
12: 86,307,439 (GRCm39) |
D272E |
possibly damaging |
Het |
Gzmg |
G |
A |
14: 56,395,263 (GRCm39) |
T74I |
probably benign |
Het |
Ikzf2 |
G |
A |
1: 69,578,474 (GRCm39) |
A271V |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,176 (GRCm39) |
D868G |
possibly damaging |
Het |
Mfsd6 |
T |
C |
1: 52,747,764 (GRCm39) |
E367G |
possibly damaging |
Het |
Mpz |
T |
C |
1: 170,987,533 (GRCm39) |
L223P |
probably damaging |
Het |
Muc17 |
T |
C |
5: 137,175,674 (GRCm39) |
|
probably benign |
Het |
Or2f1b |
C |
A |
6: 42,739,613 (GRCm39) |
T209K |
possibly damaging |
Het |
Pdcd2 |
G |
T |
17: 15,746,846 (GRCm39) |
N104K |
probably damaging |
Het |
Pigg |
G |
T |
5: 108,465,154 (GRCm39) |
G129V |
probably damaging |
Het |
Ppp3cc |
T |
C |
14: 70,483,311 (GRCm39) |
Y254C |
probably damaging |
Het |
Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
Psg23 |
A |
G |
7: 18,348,645 (GRCm39) |
V54A |
probably benign |
Het |
Psmd3 |
A |
G |
11: 98,573,746 (GRCm39) |
D64G |
probably damaging |
Het |
Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
Ptgdr |
T |
A |
14: 45,090,799 (GRCm39) |
I320F |
probably damaging |
Het |
Rad50 |
T |
A |
11: 53,574,072 (GRCm39) |
K722* |
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rgs9 |
G |
A |
11: 109,138,977 (GRCm39) |
S255L |
probably benign |
Het |
Ror1 |
C |
T |
4: 100,298,334 (GRCm39) |
P569L |
possibly damaging |
Het |
Rsad2 |
T |
C |
12: 26,497,147 (GRCm39) |
|
probably null |
Het |
Scn8a |
A |
G |
15: 100,933,422 (GRCm39) |
D1501G |
probably damaging |
Het |
Sema3c |
A |
G |
5: 17,883,330 (GRCm39) |
T313A |
possibly damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,094 (GRCm39) |
F59L |
probably damaging |
Het |
Sike1 |
A |
G |
3: 102,903,500 (GRCm39) |
D63G |
possibly damaging |
Het |
Slc32a1 |
A |
G |
2: 158,453,240 (GRCm39) |
M27V |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,187,807 (GRCm39) |
V1003A |
probably damaging |
Het |
Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,577,315 (GRCm39) |
E75G |
possibly damaging |
Het |
Tspan3 |
A |
T |
9: 56,054,783 (GRCm39) |
V48E |
probably benign |
Het |
Ugt1a6b |
T |
C |
1: 88,035,358 (GRCm39) |
I232T |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,122,772 (GRCm39) |
K2290E |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,656 (GRCm39) |
F70L |
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 |
IGL03348:Slc25a11
|
APN |
11 |
70,536,170 (GRCm39) |
unclassified |
probably benign |
|
R0448:Slc25a11
|
UTSW |
11 |
70,536,405 (GRCm39) |
missense |
probably benign |
0.43 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTGGTAGTCAACTCTCAGGTAGC -3'
(R):5'- CATCAGGGCACTTACCTATTCAGGC -3'
Sequencing Primer
(F):5'- TAGTCAACTCTCAGGTAGCTCAGG -3'
(R):5'- CACTTACCTATTCAGGCTTCCC -3'
|
Posted On |
2014-02-11 |