Mutagenetix > Incidental Mutation

Incidental Mutation 'R5234:Slc25a22'

398220

Institutional Source

Beutler Lab

Gene Symbol

Slc25a22

Ensembl Gene

ENSMUSG00000019082

Gene Name

solute carrier family 25 (mitochondrial carrier, glutamate), member 22

Synonyms

1300006L01Rik

MMRRC Submission

042806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R5234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141009662-141017787 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 141014116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019226] [ENSMUST00000026580] [ENSMUST00000084436] [ENSMUST00000106005] [ENSMUST00000106006] [ENSMUST00000106007] [ENSMUST00000124266] [ENSMUST00000136354] [ENSMUST00000138865] [ENSMUST00000133021] [ENSMUST00000133206] [ENSMUST00000137488] [ENSMUST00000124444] [ENSMUST00000128703] [ENSMUST00000150026] [ENSMUST00000184518] [ENSMUST00000201822] [ENSMUST00000202840] [ENSMUST00000201710] [ENSMUST00000201127] [ENSMUST00000190068] [ENSMUST00000174095] [ENSMUST00000164387] [ENSMUST00000190882] [ENSMUST00000172654]

AlphaFold

Q9D6M3

Predicted Effect

probably benign
Transcript: ENSMUST00000019226

SMART Domains

Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	8.1e-26	PFAM
Pfam:Mito_carr	99	217	8.6e-19	PFAM
Pfam:Mito_carr	221	310	7.4e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026580

SMART Domains

Protein: ENSMUSP00000026580
Gene: ENSMUSG00000025507

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
LRR	129	150	1.66e1	SMART
LRR	152	174	9.48e0	SMART
LRR	175	197	1.81e1	SMART
LRR	198	220	5.56e0	SMART
LRR	221	243	8.67e-1	SMART
LRR	244	266	7.57e0	SMART
LRR	267	290	6.13e-1	SMART
low complexity region	303	311	N/A	INTRINSIC
low complexity region	406	419	N/A	INTRINSIC
Pfam:Peptidase_S68	426	459	3.5e-26	PFAM
Pfam:ZU5	463	551	5e-9	PFAM
low complexity region	563	574	N/A	INTRINSIC
low complexity region	734	744	N/A	INTRINSIC
DEATH	783	878	8.31e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084436

SMART Domains

Protein: ENSMUSP00000081476
Gene: ENSMUSG00000060240

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	41	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106005

SMART Domains

Protein: ENSMUSP00000101627
Gene: ENSMUSG00000025507

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
LRR	129	150	1.66e1	SMART
LRR	152	174	9.48e0	SMART
LRR	175	197	1.81e1	SMART
LRR	198	220	5.56e0	SMART
LRR	221	243	8.67e-1	SMART
LRR	244	266	7.57e0	SMART
LRR	267	290	6.13e-1	SMART
low complexity region	303	311	N/A	INTRINSIC
Pfam:ZU5	328	422	6.6e-11	PFAM
Pfam:Peptidase_S68	426	458	5.2e-21	PFAM
Pfam:ZU5	463	546	6.5e-9	PFAM
low complexity region	563	574	N/A	INTRINSIC
low complexity region	734	744	N/A	INTRINSIC
DEATH	783	878	8.31e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106006

SMART Domains

Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	2.8e-26	PFAM
Pfam:Mito_carr	99	137	5.6e-8	PFAM
Pfam:Mito_carr	134	216	2.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106007

SMART Domains

Protein: ENSMUSP00000101629
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.7e-26	PFAM
Pfam:Mito_carr	99	217	2.3e-18	PFAM
Pfam:Mito_carr	221	311	5.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124266

SMART Domains

Protein: ENSMUSP00000122177
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	2.7e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140602

Predicted Effect

probably benign
Transcript: ENSMUST00000136354

SMART Domains

Protein: ENSMUSP00000118948
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.2e-25	PFAM
Pfam:Mito_carr	99	206	2.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138865

SMART Domains

Protein: ENSMUSP00000120721
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.4e-25	PFAM
Pfam:Mito_carr	99	214	1.8e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144174

Predicted Effect

probably benign
Transcript: ENSMUST00000133206

Predicted Effect

probably benign
Transcript: ENSMUST00000137488

SMART Domains

Protein: ENSMUSP00000123334
Gene: ENSMUSG00000060240

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	41	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124444

SMART Domains

Protein: ENSMUSP00000118591
Gene: ENSMUSG00000060240

Domain	Start	End	E-Value	Type
Pfam:CEND1	1	149	1.3e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128703

SMART Domains

Protein: ENSMUSP00000139487
Gene: ENSMUSG00000025507

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
LRR	129	148	3.5e-1	SMART
LRR	152	171	1.4e-1	SMART
LRR	175	194	3.9e-2	SMART
LRR	198	217	8.7e-1	SMART
LRR	221	240	9.6e-2	SMART
LRR	244	266	3.1e-2	SMART
LRR	267	286	1.3e-1	SMART
low complexity region	303	311	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201558

Predicted Effect

probably benign
Transcript: ENSMUST00000150026

Predicted Effect

probably benign
Transcript: ENSMUST00000184518

SMART Domains

Protein: ENSMUSP00000138924
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201822

SMART Domains

Protein: ENSMUSP00000144213
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	70	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202840

SMART Domains

Protein: ENSMUSP00000144384
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	85	5.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201710

SMART Domains

Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	4	98	1.7e-26	PFAM
Pfam:Mito_carr	99	217	2.3e-18	PFAM
Pfam:Mito_carr	221	311	5.7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201708

Predicted Effect

probably benign
Transcript: ENSMUST00000190068

SMART Domains

Protein: ENSMUSP00000139957
Gene: ENSMUSG00000025507

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
LRR	129	148	3.5e-1	SMART
LRR	152	171	1.4e-1	SMART
LRR	175	194	3.9e-2	SMART
LRR	198	217	8.7e-1	SMART
LRR	221	240	9.6e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174095

Predicted Effect

probably benign
Transcript: ENSMUST00000164387

SMART Domains

Protein: ENSMUSP00000131085
Gene: ENSMUSG00000060240

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	41	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
transmembrane domain	124	146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190882

SMART Domains

Protein: ENSMUSP00000139785
Gene: ENSMUSG00000025507

Domain	Start	End	E-Value	Type
low complexity region	9	27	N/A	INTRINSIC
LRR	129	148	3.5e-1	SMART
LRR	152	171	1.4e-1	SMART
LRR	175	194	3.9e-2	SMART
LRR	198	217	8.7e-1	SMART
LRR_TYP	221	244	3.7e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153190

Predicted Effect

probably benign
Transcript: ENSMUST00000172654

SMART Domains

Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	54	6.2e-12	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,302,823 (GRCm39)	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,867,420 (GRCm39)	F213I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adamts6	A	G	13: 104,630,130 (GRCm39)	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,588,230 (GRCm39)	M586V	probably benign	Het
Anapc4	T	C	5: 53,006,118 (GRCm39)	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,054,737 (GRCm39)	I964K	possibly damaging	Het
Bcan	A	T	3: 87,903,453 (GRCm39)	D246E	probably damaging	Het
Ccnf	G	A	17: 24,453,411 (GRCm39)	R343*	probably null	Het
Col6a5	T	C	9: 105,741,404 (GRCm39)	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,242,930 (GRCm39)	M72L	probably damaging	Het
Dnajc18	T	C	18: 35,816,351 (GRCm39)	T196A	probably benign	Het
Dnajc19	T	A	3: 34,112,108 (GRCm39)	I146F	probably benign	Het
Espnl	A	G	1: 91,272,515 (GRCm39)	D581G	probably benign	Het
Fam167a	T	C	14: 63,689,787 (GRCm39)	L28P	probably damaging	Het
Fra10ac1	T	C	19: 38,204,294 (GRCm39)	D94G	probably damaging	Het
Fut8	A	G	12: 77,379,004 (GRCm39)	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,281,188 (GRCm39)		noncoding transcript	Het
Garin2	T	A	12: 78,762,045 (GRCm39)	Y236*	probably null	Het
Idh2	A	T	7: 79,745,853 (GRCm39)	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,265,407 (GRCm39)	I121V	probably benign	Het
Itga1	A	T	13: 115,185,839 (GRCm39)	Y54*	probably null	Het
Lax1	A	G	1: 133,608,321 (GRCm39)	V140A	probably benign	Het
Ncoa6	A	G	2: 155,279,933 (GRCm39)	F28L	probably benign	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or1q1	T	C	2: 36,887,107 (GRCm39)	V95A	probably benign	Het
Polr2a	T	C	11: 69,627,666 (GRCm39)	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,954,227 (GRCm39)	E115G	possibly damaging	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Psmd11	A	G	11: 80,319,566 (GRCm39)	I19V	probably benign	Het
Pthlh	C	A	6: 147,158,592 (GRCm39)	G123W	probably damaging	Het
Qars1	T	A	9: 108,391,364 (GRCm39)	L572Q	probably damaging	Het
Rubcn	T	C	16: 32,656,828 (GRCm39)	I516V	probably damaging	Het
Sgsm3	A	T	15: 80,892,145 (GRCm39)	S238C	probably damaging	Het
Slc4a1	G	A	11: 102,252,209 (GRCm39)	R5W	probably benign	Het
Tie1	G	A	4: 118,339,959 (GRCm39)	T356I	probably benign	Het
Tnn	A	T	1: 159,972,569 (GRCm39)	H344Q	possibly damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Topaz1	C	T	9: 122,619,258 (GRCm39)	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,215,535 (GRCm39)	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,830,745 (GRCm39)	Y209D	probably damaging	Het
Unc45a	C	G	7: 79,978,547 (GRCm39)	A634P	probably benign	Het
Vmn2r4	C	T	3: 64,305,878 (GRCm39)	V515I	possibly damaging	Het

Other mutations in Slc25a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0579:Slc25a22	UTSW	7	141,011,272 (GRCm39)	missense	probably damaging	1.00
R7125:Slc25a22	UTSW	7	141,011,655 (GRCm39)	missense	probably damaging	0.98
R7467:Slc25a22	UTSW	7	141,013,889 (GRCm39)	missense	probably benign	0.32
R7526:Slc25a22	UTSW	7	141,011,296 (GRCm39)	missense	probably benign	0.13
R8408:Slc25a22	UTSW	7	141,011,737 (GRCm39)	missense	probably benign	0.01
R8784:Slc25a22	UTSW	7	141,011,020 (GRCm39)	makesense	probably null
R8991:Slc25a22	UTSW	7	141,013,871 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATTGATGAGCTTGGCCG -3'
(R):5'- TAGGGAGTGAGGGACTTCAC -3'

Sequencing Primer
(F):5'- ATGAGCTTGGCCGGCAGG -3'
(R):5'- TCACGCCCTTGTGAGATGG -3'

Posted On

2016-07-06