Mutagenetix > Incidental Mutation

Incidental Mutation 'R5177:Slc25a11'

399623

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

042757-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R5177 (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 70536643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 141 (E141G)

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 damaging
Transcript: ENSMUST00000014750
AA Change: E141G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: E141G

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 damaging
Transcript: ENSMUST00000139638
AA Change: E109G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606
AA Change: E109G

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: ENSMUST00000157076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

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

Meta Mutation Damage Score

0.9431

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (71/73)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,115,639 (GRCm39)	R575Q	probably damaging	Het
Arhgap22	T	G	14: 33,088,650 (GRCm39)	V377G	probably benign	Het
Asic4	T	C	1: 75,427,483 (GRCm39)	I3T	probably damaging	Het
Atp2b4	T	C	1: 133,656,506 (GRCm39)	T715A	probably benign	Het
Bltp3a	T	C	17: 28,103,992 (GRCm39)	L464P	possibly damaging	Het
Ccdc180	A	T	4: 45,917,508 (GRCm39)	H283L	probably damaging	Het
Cfap91	A	G	16: 38,152,683 (GRCm39)	S176P	probably benign	Het
Cfb	A	G	17: 35,078,002 (GRCm39)	V976A	probably damaging	Het
Cltc	T	C	11: 86,595,989 (GRCm39)	T1250A	probably damaging	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dcbld1	T	A	10: 52,180,730 (GRCm39)	D131E	probably damaging	Het
Dmxl1	T	C	18: 50,026,651 (GRCm39)	S1920P	probably damaging	Het
Dnajc13	G	A	9: 104,108,185 (GRCm39)	H197Y	probably benign	Het
Dpy19l1	C	T	9: 24,349,924 (GRCm39)		probably null	Het
Ears2	A	G	7: 121,643,683 (GRCm39)		probably benign	Het
Epgn	A	C	5: 91,176,136 (GRCm39)		probably benign	Het
Ern1	T	C	11: 106,302,601 (GRCm39)	T418A	probably benign	Het
F12	G	A	13: 55,567,981 (GRCm39)	P476S	probably benign	Het
Gal3st2c	C	T	1: 93,936,930 (GRCm39)	Q292*	probably null	Het
Galnt7	C	A	8: 58,037,061 (GRCm39)	Q109H	possibly damaging	Het
Gimap1	G	T	6: 48,720,032 (GRCm39)	G215W	probably damaging	Het
Gm28042	T	A	2: 119,872,082 (GRCm39)		probably null	Het
Gm5414	A	G	15: 101,534,252 (GRCm39)	I284T	possibly damaging	Het
Hddc3	A	G	7: 79,992,914 (GRCm39)	E10G	probably damaging	Het
Hmgxb3	T	C	18: 61,305,266 (GRCm39)	K31E	probably damaging	Het
Hspg2	A	C	4: 137,246,083 (GRCm39)	Y989S	probably damaging	Het
Kif12	G	A	4: 63,086,141 (GRCm39)	T402M	probably benign	Het
Klhdc4	A	T	8: 122,540,529 (GRCm39)	L115*	probably null	Het
Lama2	C	T	10: 27,066,699 (GRCm39)	V1061M	possibly damaging	Het
Llgl1	C	T	11: 60,602,833 (GRCm39)	T836I	possibly damaging	Het
Map4k4	A	G	1: 40,025,922 (GRCm39)	D304G	probably damaging	Het
Matn2	A	G	15: 34,433,660 (GRCm39)	Q915R	possibly damaging	Het
Myo18a	A	G	11: 77,755,668 (GRCm39)		probably benign	Het
Myorg	C	A	4: 41,498,407 (GRCm39)	E408*	probably null	Het
Nbn	A	T	4: 15,965,132 (GRCm39)		probably null	Het
Nek8	G	A	11: 78,061,297 (GRCm39)	Q383*	probably null	Het
Nme7	T	G	1: 164,208,245 (GRCm39)	Y304*	probably null	Het
Nol8	A	T	13: 49,814,588 (GRCm39)	H214L	probably benign	Het
Nostrin	A	T	2: 69,006,098 (GRCm39)	I261F	possibly damaging	Het
Oprk1	T	G	1: 5,672,897 (GRCm39)	C345G	probably damaging	Het
Or13a18	A	G	7: 140,190,102 (GRCm39)	T8A	probably benign	Het
Or52j3	A	T	7: 102,836,710 (GRCm39)	I301L	probably benign	Het
Polrmt	T	C	10: 79,573,310 (GRCm39)	S998G	probably benign	Het
Ppp1r12c	T	A	7: 4,487,495 (GRCm39)	R393*	probably null	Het
Prpf3	T	A	3: 95,757,036 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,475,385 (GRCm39)	M563V	probably benign	Het
Rasa2	C	A	9: 96,426,844 (GRCm39)	E775*	probably null	Het
Rc3h1	G	T	1: 160,779,222 (GRCm39)	V552L	probably damaging	Het
Rhot1	A	T	11: 80,137,592 (GRCm39)	N365Y	possibly damaging	Het
Rimbp3	G	A	16: 17,027,781 (GRCm39)	V402M	possibly damaging	Het
Rusc2	A	T	4: 43,421,805 (GRCm39)		probably null	Het
Slc34a1	A	T	13: 55,548,975 (GRCm39)	I142F	probably damaging	Het
Socs6	A	C	18: 88,887,504 (GRCm39)	Y470*	probably null	Het
Sox12	A	T	2: 152,239,098 (GRCm39)	L174Q	unknown	Het
Srl	A	G	16: 4,314,267 (GRCm39)		probably null	Het
Tacc1	A	T	8: 25,691,237 (GRCm39)	V22E	probably damaging	Het
Thsd7a	A	T	6: 12,379,582 (GRCm39)	C947*	probably null	Het
Tlr12	A	C	4: 128,512,169 (GRCm39)	V27G	probably damaging	Het
Tmprss4	C	A	9: 45,085,260 (GRCm39)	V398L	probably benign	Het
Trip6	T	C	5: 137,310,434 (GRCm39)	D270G	probably damaging	Het
Uba5	T	G	9: 103,926,497 (GRCm39)	N355T	probably benign	Het
Ubr5	A	G	15: 38,006,761 (GRCm39)	Y1171H	probably benign	Het
Vmn2r57	A	G	7: 41,049,664 (GRCm39)	I695T	probably benign	Het
Vmn2r68	T	A	7: 84,871,199 (GRCm39)	I695L	probably damaging	Het
Vmn2r79	T	A	7: 86,651,177 (GRCm39)	M192K	probably damaging	Het
Vps16	G	T	2: 130,285,288 (GRCm39)	E782*	probably null	Het
Zfp783	A	G	6: 47,923,737 (GRCm39)		noncoding transcript	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
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'- CTGGCAATCCTAACTAGGGC -3'
(R):5'- TACTCTTCAGGCTGTCAGCTG -3'

Sequencing Primer
(F):5'- AACACATTTTTGTAGCCACGGC -3'
(R):5'- TCAGGCTGTCAGCTGGTCTAC -3'

Posted On

2016-07-06