Mutagenetix > Incidental Mutation

Incidental Mutation 'R0448:Slc25a11'

39460

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

038648-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R0448 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70535022-70538305 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70536405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 134 (N134S)

Ref Sequence

ENSEMBL: ENSMUSP00000114685 (fasta)

Gene Model

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

AlphaFold

Q9CR62

Predicted Effect

probably benign
Transcript: ENSMUST00000014750
AA Change: N166S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: N166S

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 benign
Transcript: ENSMUST00000139638
AA Change: N134S

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606
AA Change: N134S

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: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

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

0.2950

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.1%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,218,687 (GRCm39)	R232C	probably damaging	Het
Adam9	A	G	8: 25,454,926 (GRCm39)	S732P	probably damaging	Het
Add2	G	A	6: 86,069,901 (GRCm39)	V140I	probably benign	Het
Ahi1	G	A	10: 20,847,974 (GRCm39)	G461S	probably damaging	Het
Aoc1l2	A	T	6: 48,909,991 (GRCm39)	S643C	probably damaging	Het
Arhgef7	A	G	8: 11,869,659 (GRCm39)	T432A	possibly damaging	Het
Arsi	T	C	18: 61,050,374 (GRCm39)	I419T	probably damaging	Het
Brca1	G	A	11: 101,399,047 (GRCm39)	P1515L	possibly damaging	Het
Brcc3	T	A	X: 74,493,647 (GRCm39)	L222*	probably null	Het
Brpf3	A	T	17: 29,025,010 (GRCm39)	T28S	probably benign	Het
Cdc20b	T	A	13: 113,215,191 (GRCm39)	V253E	probably damaging	Het
Cnot6l	T	A	5: 96,227,905 (GRCm39)	S443C	probably benign	Het
Copg1	G	A	6: 87,881,908 (GRCm39)	A587T	probably benign	Het
Crebrf	A	G	17: 26,962,076 (GRCm39)	D391G	probably benign	Het
Crocc	A	T	4: 140,769,502 (GRCm39)	D283E	probably damaging	Het
Cryga	T	C	1: 65,142,318 (GRCm39)	N25S	probably benign	Het
Csnk1g1	T	C	9: 65,888,230 (GRCm39)	F90L	possibly damaging	Het
Cyp2j6	A	G	4: 96,433,965 (GRCm39)	V115A	probably benign	Het
Cyp3a11	T	C	5: 145,799,204 (GRCm39)	I328V	probably benign	Het
Dchs1	C	A	7: 105,415,134 (GRCm39)	E683D	probably benign	Het
Dnah9	T	C	11: 65,809,539 (GRCm39)		probably benign	Het
Dqx1	T	C	6: 83,037,326 (GRCm39)	S330P	probably damaging	Het
Epg5	A	G	18: 78,066,580 (GRCm39)	Y2160C	probably damaging	Het
Ercc5	T	C	1: 44,213,100 (GRCm39)	L742P	probably damaging	Het
Fcgbpl1	T	C	7: 27,839,660 (GRCm39)	I491T	probably benign	Het
Flt1	C	T	5: 147,503,204 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,756,194 (GRCm39)	S498P	probably damaging	Het
H2-T22	A	G	17: 36,353,278 (GRCm39)	L14P	possibly damaging	Het
Hephl1	C	T	9: 14,988,222 (GRCm39)	G629S	probably damaging	Het
Hsdl2	T	A	4: 59,606,523 (GRCm39)	M162K	unknown	Het
Kcnh8	C	A	17: 53,284,648 (GRCm39)		probably null	Het
Krt76	T	C	15: 101,799,082 (GRCm39)	Q201R	probably damaging	Het
Lrpprc	A	T	17: 85,078,322 (GRCm39)	Y319N	probably benign	Het
Lrrk2	T	G	15: 91,593,508 (GRCm39)	I489R	probably damaging	Het
Mboat1	G	T	13: 30,386,393 (GRCm39)	D136Y	probably damaging	Het
Mcmdc2	T	C	1: 10,010,767 (GRCm39)	*682Q	probably null	Het
Msx2	C	A	13: 53,622,431 (GRCm39)	R193L	probably damaging	Het
Nfatc4	T	G	14: 56,069,111 (GRCm39)	D625E	possibly damaging	Het
Nup153	T	C	13: 46,870,657 (GRCm39)	E86G	probably benign	Het
Or2g7	G	T	17: 38,378,563 (GRCm39)	R167L	probably benign	Het
Or4k45	T	A	2: 111,395,559 (GRCm39)	I77F	probably benign	Het
Pard3b	T	C	1: 62,205,628 (GRCm39)	L474P	probably damaging	Het
Pate11	T	A	9: 36,388,412 (GRCm39)	M79K	probably benign	Het
Pggt1b	A	T	18: 46,396,039 (GRCm39)		probably benign	Het
Pik3r2	A	G	8: 71,224,688 (GRCm39)		probably benign	Het
Prr14	A	G	7: 127,073,898 (GRCm39)		probably benign	Het
Rcbtb2	T	C	14: 73,415,869 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,840,515 (GRCm39)	D429N	probably benign	Het
S1pr5	T	A	9: 21,155,503 (GRCm39)	T308S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina12	A	G	12: 104,004,354 (GRCm39)	S93P	probably benign	Het
Serpinb1b	T	G	13: 33,273,675 (GRCm39)	H123Q	probably benign	Het
Sftpc	C	T	14: 70,760,120 (GRCm39)	V46I	probably benign	Het
Skint8	T	A	4: 111,794,087 (GRCm39)	V159D	probably damaging	Het
Slc25a24	T	C	3: 109,064,332 (GRCm39)		probably benign	Het
Sorl1	C	G	9: 41,915,384 (GRCm39)	V1282L	probably damaging	Het
Sptan1	T	A	2: 29,916,822 (GRCm39)	I2170N	probably damaging	Het
Syne4	A	G	7: 30,014,345 (GRCm39)		probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tg	C	A	15: 66,636,291 (GRCm39)	P626Q	probably damaging	Het
Thoc6	T	A	17: 23,888,550 (GRCm39)	D196V	probably damaging	Het
Tpi1	A	G	6: 124,791,066 (GRCm39)	F57S	probably damaging	Het
Tril	A	G	6: 53,794,793 (GRCm39)	*810Q	probably null	Het
Trrap	T	A	5: 144,776,377 (GRCm39)	V2972D	possibly damaging	Het
Ttn	A	T	2: 76,591,624 (GRCm39)	V12688E	probably damaging	Het
Ttn	T	C	2: 76,551,283 (GRCm39)	M31370V	probably damaging	Het
Txndc11	A	G	16: 10,909,625 (GRCm39)	F307S	probably damaging	Het
Vmn1r40	C	T	6: 89,691,642 (GRCm39)	S153L	probably benign	Het
Vmn2r95	A	G	17: 18,672,005 (GRCm39)	T581A	possibly damaging	Het
Wdtc1	A	G	4: 133,024,811 (GRCm39)	F462S	probably damaging	Het
Zfp101	A	G	17: 33,601,295 (GRCm39)	S154P	possibly damaging	Het
Zmym6	A	G	4: 127,002,487 (GRCm39)	N481D	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
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
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'- TCTCTCACCTGAGTCCAGCAAGAAC -3'
(R):5'- GCAACTGGTGCATTTGTGGGAAC -3'

Sequencing Primer
(F):5'- GTCCAGCAAGAACTGCTTAGATTG -3'
(R):5'- GCTCTCATCAGGATGACTGCTG -3'

Posted On

2013-05-23