Mutagenetix > Incidental Mutation

Incidental Mutation 'R0579:Slc25a22'

56358

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

038769-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R0579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141009662-141017787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141011272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 176 (D176G)

Ref Sequence

ENSEMBL: ENSMUSP00000101628 (fasta)

Gene Model

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

AlphaFold

Q9D6M3

Predicted Effect

probably damaging
Transcript: ENSMUST00000019226
AA Change: D270G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082
AA Change: D270G

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: 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 damaging
Transcript: ENSMUST00000106006
AA Change: D176G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082
AA Change: D176G

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 damaging
Transcript: ENSMUST00000106007
AA Change: D270G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101629
Gene: ENSMUSG00000019082
AA Change: D270G

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

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

noncoding transcript
Transcript: ENSMUST00000132635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156002

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144174

Predicted Effect

probably benign
Transcript: ENSMUST00000174095

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: ENSMUST00000150026

Predicted Effect

probably benign
Transcript: ENSMUST00000133021

Predicted Effect

probably benign
Transcript: ENSMUST00000153190

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: ENSMUST00000172654

SMART Domains

Protein: ENSMUSP00000133928
Gene: ENSMUSG00000019082

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

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: 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: ENSMUST00000133206

Predicted Effect

probably damaging
Transcript: ENSMUST00000201710
AA Change: D270G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082
AA Change: D270G

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

noncoding transcript
Transcript: ENSMUST00000201708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201072

Predicted Effect

probably benign
Transcript: ENSMUST00000201127

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: 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: ENSMUST00000184518

SMART Domains

Protein: ENSMUSP00000138924
Gene: ENSMUSG00000019082

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

Meta Mutation Damage Score

0.8376

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

89% (34/38)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Abcf3	G	A	16: 20,369,398 (GRCm39)	R260Q	probably benign	Het
Abcg3	A	G	5: 105,121,969 (GRCm39)	V136A	probably damaging	Het
Acr	C	G	15: 89,453,678 (GRCm39)	H72Q	probably damaging	Het
Ambra1	A	G	2: 91,654,810 (GRCm39)	N783S	possibly damaging	Het
Cd300ld2	A	G	11: 114,903,125 (GRCm39)	F240S	probably benign	Het
Cep83	A	G	10: 94,584,915 (GRCm39)	D340G	possibly damaging	Het
Crybg2	T	A	4: 133,800,049 (GRCm39)	I403N	probably damaging	Het
Dnah14	T	A	1: 181,572,312 (GRCm39)	M2881K	possibly damaging	Het
Erbb4	T	C	1: 68,081,621 (GRCm39)	M1138V	probably benign	Het
Evi5	A	G	5: 107,969,575 (GRCm39)	V112A	probably benign	Het
F2r	A	G	13: 95,754,857 (GRCm39)	V9A	probably benign	Het
Flot1	C	A	17: 36,141,900 (GRCm39)	S337R	probably benign	Het
Glt28d2	G	A	3: 85,779,440 (GRCm39)	T11I	probably damaging	Het
Gm19345	A	G	7: 19,588,901 (GRCm39)		probably benign	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Hmgcs2	A	T	3: 98,198,264 (GRCm39)	I56F	probably damaging	Het
Ifna9	T	A	4: 88,510,508 (GRCm39)	T39S	possibly damaging	Het
Il21	T	G	3: 37,281,923 (GRCm39)	K74Q	possibly damaging	Het
Itpripl1	G	T	2: 126,983,011 (GRCm39)	Y370*	probably null	Het
Kif24	G	A	4: 41,393,706 (GRCm39)	P1056S	probably damaging	Het
L2hgdh	A	T	12: 69,748,046 (GRCm39)		probably benign	Het
Lipo2	A	T	19: 33,724,298 (GRCm39)	L156Q	probably damaging	Het
Nlrp4c	T	A	7: 6,063,844 (GRCm39)	M84K	probably benign	Het
Npy4r	G	A	14: 33,868,640 (GRCm39)	T216I	probably benign	Het
Or12d17	T	C	17: 37,777,238 (GRCm39)	V47A	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or6c1	A	T	10: 129,518,106 (GRCm39)	C167*	probably null	Het
Pafah1b2	T	C	9: 45,880,011 (GRCm39)	E222G	probably benign	Het
Pop1	T	A	15: 34,510,115 (GRCm39)	D406E	possibly damaging	Het
Proser1	A	G	3: 53,374,572 (GRCm39)	Y32C	probably damaging	Het
Ptprj	C	A	2: 90,266,913 (GRCm39)		probably null	Het
Slc1a3	T	A	15: 8,717,793 (GRCm39)	I100F	probably damaging	Het
Stard7	T	C	2: 127,126,473 (GRCm39)	V99A	probably damaging	Het
Stk33	C	T	7: 108,924,904 (GRCm39)	V184I	probably damaging	Het
Timmdc1	A	G	16: 38,342,745 (GRCm39)	L51P	probably benign	Het
Tppp	T	C	13: 74,169,352 (GRCm39)	S31P	probably benign	Het
Upf2	A	T	2: 5,993,240 (GRCm39)	R599W	unknown	Het
Vav1	G	T	17: 57,586,271 (GRCm39)	W25L	probably benign	Het

Other mutations in Slc25a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5234:Slc25a22	UTSW	7	141,014,116 (GRCm39)	start gained	probably benign
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'- TCGGCAATGCCCAGAAAGTAGACC -3'
(R):5'- CCCTGTTTGCCAACCTGAATCAGC -3'

Sequencing Primer
(F):5'- ACCTGGGCGATGCCAAAC -3'
(R):5'- CTCTGAGGAGAAGTCGCCTTTC -3'

Posted On

2013-07-11