Mutagenetix > Incidental Mutation

Incidental Mutation 'R8694:Slc25a11'

668576

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

068548-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R8694 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70535022-70538305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70535630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 303 (M303V)

Ref Sequence

ENSEMBL: ENSMUSP00000014750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014750] [ENSMUST00000037534] [ENSMUST00000055184] [ENSMUST00000108551] [ENSMUST00000136383] [ENSMUST00000139638] [ENSMUST00000141695] [ENSMUST00000152160]

AlphaFold

Q9CR62

Predicted Effect

probably benign
Transcript: ENSMUST00000014750
AA Change: M303V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: M303V

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

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: 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 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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (51/52)

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
Adar	T	C	3: 89,642,950 (GRCm39)	L277P	probably damaging	Het
Adgrb3	C	A	1: 25,865,472 (GRCm39)	D124Y	probably damaging	Het
Afdn	T	C	17: 14,108,641 (GRCm39)	V1403A	probably benign	Het
Afg3l1	T	C	8: 124,227,973 (GRCm39)	V586A	probably damaging	Het
Ajm1	A	G	2: 25,469,831 (GRCm39)	S27P	possibly damaging	Het
Aloxe3	A	G	11: 69,033,677 (GRCm39)	D597G	probably damaging	Het
Asb15	T	C	6: 24,570,666 (GRCm39)	V548A	probably benign	Het
Atp6v1a	C	T	16: 43,921,991 (GRCm39)	R388Q	probably damaging	Het
Btbd8	A	G	5: 107,658,635 (GRCm39)	D1735G	probably benign	Het
C130074G19Rik	G	A	1: 184,615,184 (GRCm39)	T2M	probably damaging	Het
Ccdc187	T	C	2: 26,165,505 (GRCm39)	T884A	probably benign	Het
Cdk5rap1	G	A	2: 154,195,148 (GRCm39)	R356*	probably null	Het
Cebpz	A	T	17: 79,234,334 (GRCm39)	H725Q	probably damaging	Het
Celsr2	T	C	3: 108,314,176 (GRCm39)	D1283G	probably damaging	Het
Cldn11	G	T	3: 31,217,239 (GRCm39)	V136F	probably damaging	Het
Cpxm2	T	C	7: 131,681,783 (GRCm39)	N249D	probably benign	Het
Ctsz	T	C	2: 174,280,072 (GRCm39)	N67D	probably benign	Het
Drd3	A	C	16: 43,643,075 (GRCm39)	H405P	probably damaging	Het
F2rl2	T	C	13: 95,837,339 (GRCm39)	V128A	probably benign	Het
Fh1	C	T	1: 175,448,126 (GRCm39)	P43S	probably benign	Het
Fndc7	C	T	3: 108,779,622 (GRCm39)	W307*	probably null	Het
Gmip	G	T	8: 70,270,485 (GRCm39)	V732L	probably benign	Het
Heatr4	A	G	12: 84,027,038 (GRCm39)	F73S	probably damaging	Het
Iqcf4	T	C	9: 106,448,111 (GRCm39)		probably benign	Het
Itln1	T	A	1: 171,359,279 (GRCm39)	Q67L	probably damaging	Het
Jak1	A	G	4: 101,013,704 (GRCm39)	V1008A	probably damaging	Het
Kcnh1	A	T	1: 191,921,031 (GRCm39)		probably benign	Het
Kcnu1	T	G	8: 26,342,101 (GRCm39)		probably benign	Het
Kif1b	A	G	4: 149,305,024 (GRCm39)	S967P	probably damaging	Het
Klra17	A	G	6: 129,851,780 (GRCm39)	S31P	probably benign	Het
Kmt2d	C	T	15: 98,742,615 (GRCm39)	E4182K	unknown	Het
Lama5	T	C	2: 179,822,677 (GRCm39)	D2825G	probably damaging	Het
Lmtk2	T	C	5: 144,108,566 (GRCm39)	V336A	probably damaging	Het
Mad1l1	A	G	5: 140,074,438 (GRCm39)	I584T	probably benign	Het
Magea1	T	A	X: 153,871,787 (GRCm39)	N313I	possibly damaging	Het
Mapt	T	C	11: 104,189,440 (GRCm39)	S153P	probably benign	Het
Myo1e	T	C	9: 70,291,172 (GRCm39)	Y988H	probably benign	Het
Ndufc2	A	T	7: 97,049,403 (GRCm39)	N3I	probably benign	Het
Nos2	T	A	11: 78,836,515 (GRCm39)	V531D	possibly damaging	Het
Npbwr1	T	A	1: 5,986,617 (GRCm39)	Y299F	probably damaging	Het
Or4a39	A	G	2: 89,237,378 (GRCm39)	L15P	probably damaging	Het
Or4a70	A	G	2: 89,324,171 (GRCm39)	Y162H	possibly damaging	Het
Or52n20	G	T	7: 104,320,296 (GRCm39)	C129F	probably damaging	Het
Or8h10	G	A	2: 86,808,591 (GRCm39)	P183L	probably damaging	Het
Pp2d1	T	C	17: 53,815,191 (GRCm39)	Y511C	probably benign	Het
Psmb4	T	C	3: 94,793,435 (GRCm39)	N149D	probably benign	Het
Setbp1	T	C	18: 78,901,516 (GRCm39)	K717R	probably damaging	Het
Spesp1	A	T	9: 62,180,242 (GRCm39)	M222K	probably benign	Het
Tmem132d	A	G	5: 127,869,495 (GRCm39)	M613T	probably benign	Het
Ugt2a2	A	G	5: 87,612,029 (GRCm39)	F294L	probably damaging	Het
Usp34	A	G	11: 23,434,161 (GRCm39)	T3246A		Het
Zfp750	T	A	11: 121,404,456 (GRCm39)	I140F	possibly damaging	Het
Zscan4e	A	T	7: 11,041,574 (GRCm39)	H127Q	possibly 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
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
Z1177:Slc25a11	UTSW	11	70,535,671 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTCTTTACCGCAAAGGAGAAAACC -3'
(R):5'- CGGATGATTGATGGGAAGCC -3'

Sequencing Primer
(F):5'- CGCAAAGGAGAAAACCACACTGG -3'
(R):5'- TGATTGATGGGAAGCCAGAATAC -3'

Posted On

2021-04-30