Incidental Mutation 'R5662:Slc25a11'
| ID |
444146 |
| 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 |
043305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.827)
|
| Stock # |
R5662 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70535022-70538305 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 70536245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 158
(R158*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014750]
[ENSMUST00000037534]
[ENSMUST00000055184]
[ENSMUST00000108551]
[ENSMUST00000136383]
[ENSMUST00000139638]
[ENSMUST00000141695]
[ENSMUST00000152160]
|
| AlphaFold |
Q9CR62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000014750
AA Change: R190*
|
| SMART Domains |
Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: R190*
| 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
AA Change: R158*
|
| SMART Domains |
Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606
AA Change: R158*
| 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: ENSMUST00000141237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152458
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157076
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,749,855 (GRCm39) |
V1542D |
possibly damaging |
Het |
| Acsm4 |
T |
G |
7: 119,294,023 (GRCm39) |
N131K |
possibly damaging |
Het |
| Ankrd54 |
A |
G |
15: 78,946,814 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,781,920 (GRCm39) |
I753T |
probably benign |
Het |
| Cers2 |
C |
T |
3: 95,228,295 (GRCm39) |
R112C |
probably damaging |
Het |
| Col6a4 |
C |
G |
9: 105,945,200 (GRCm39) |
R971S |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,906,606 (GRCm39) |
S178P |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,713,525 (GRCm39) |
T492I |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,657,584 (GRCm39) |
K1212E |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,956,307 (GRCm39) |
T2096A |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,370,457 (GRCm39) |
I886F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,126,622 (GRCm39) |
N519K |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,355,061 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
G |
A |
5: 131,114,844 (GRCm39) |
R219C |
probably damaging |
Het |
| Gm10645 |
A |
G |
8: 83,892,486 (GRCm39) |
|
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,307,341 (GRCm39) |
S3907A |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,027 (GRCm39) |
V56E |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,097,105 (GRCm39) |
D92G |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,122,707 (GRCm39) |
V750I |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,441,875 (GRCm39) |
R595G |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,417,031 (GRCm39) |
Y351N |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,329,939 (GRCm39) |
I356N |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,685,473 (GRCm39) |
Y292C |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,182,725 (GRCm39) |
T526M |
probably damaging |
Het |
| Mroh4 |
A |
T |
15: 74,497,277 (GRCm39) |
D181E |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,645 (GRCm39) |
N757D |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,005 (GRCm39) |
F200L |
probably benign |
Het |
| Or1m1 |
A |
G |
9: 18,666,896 (GRCm39) |
F12L |
probably damaging |
Het |
| Or6c215 |
T |
C |
10: 129,638,176 (GRCm39) |
T73A |
possibly damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,067 (GRCm39) |
F10L |
possibly damaging |
Het |
| Paxbp1 |
G |
A |
16: 90,834,285 (GRCm39) |
T167M |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,942,396 (GRCm39) |
D1238G |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,358 (GRCm39) |
S210P |
probably benign |
Het |
| Ripor3 |
T |
G |
2: 167,835,476 (GRCm39) |
N165T |
probably benign |
Het |
| Serpine3 |
T |
G |
14: 62,908,291 (GRCm39) |
S106R |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,736,538 (GRCm39) |
V506M |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,022,169 (GRCm39) |
K304E |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,740,404 (GRCm39) |
N267S |
possibly damaging |
Het |
| Spink6 |
C |
A |
18: 44,207,481 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Srebf2 |
T |
C |
15: 82,079,204 (GRCm39) |
S811P |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,989,748 (GRCm39) |
*587R |
probably null |
Het |
| Sult2a8 |
C |
T |
7: 14,161,765 (GRCm39) |
R27H |
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,623,069 (GRCm39) |
A90T |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,526 (GRCm39) |
S267P |
probably benign |
Het |
| Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,248,110 (GRCm39) |
G45S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,920,111 (GRCm39) |
S570T |
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 |
|
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 |
|
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'- AACGAGGCCACTGATCATG -3'
(R):5'- TTGTTCCATGGACCCTGGTC -3'
Sequencing Primer
(F):5'- ACTGATCATGCTGGCGC -3'
(R):5'- CGCCGTGGCTACAAAAATGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation