Mutagenetix > Incidental Mutation

Incidental Mutation 'R7526:Slc25a22'

582995

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

045598-MU

Accession Numbers

Essential gene?

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

Stock #

R7526 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141009662-141017787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141011296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 262 (E262G)

Ref Sequence

ENSEMBL: ENSMUSP00000019226 (fasta)

Gene Model

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

AlphaFold

Q9D6M3

Predicted Effect

probably benign
Transcript: ENSMUST00000019226
AA Change: E262G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082
AA Change: E262G

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

possibly damaging
Transcript: ENSMUST00000106006
AA Change: E168G

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082
AA Change: E168G

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
AA Change: E262G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101629
Gene: ENSMUSG00000019082
AA Change: E262G

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

probably benign
Transcript: ENSMUST00000133021

Predicted Effect

probably benign
Transcript: ENSMUST00000133206

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: 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: 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: ENSMUST00000150026

Predicted Effect

probably benign
Transcript: ENSMUST00000153190

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: 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: ENSMUST00000174095

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: ENSMUST00000201127

Predicted Effect

probably benign
Transcript: ENSMUST00000201710
AA Change: E262G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082
AA Change: E262G

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	T	11: 65,043,807 (GRCm39)	F85I	unknown	Het
Ankrd22	A	T	19: 34,126,765 (GRCm39)	W22R	possibly damaging	Het
Aqr	A	T	2: 113,938,590 (GRCm39)	H1287Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atp8b5	A	G	4: 43,366,609 (GRCm39)	E791G	probably damaging	Het
Bicd1	T	G	6: 149,415,224 (GRCm39)	S646A	possibly damaging	Het
Bmpr1b	A	T	3: 141,562,360 (GRCm39)	Y276N	probably damaging	Het
Cadps2	T	C	6: 23,496,850 (GRCm39)	H465R	probably damaging	Het
Card11	A	T	5: 140,899,184 (GRCm39)		probably null	Het
Ccdc9	A	G	7: 16,016,325 (GRCm39)	L139P	probably damaging	Het
Cdk5rap3	A	T	11: 96,800,771 (GRCm39)	M355K	probably benign	Het
Cnot2	A	T	10: 116,342,985 (GRCm39)	V116E	probably benign	Het
Defb48	A	G	14: 63,215,280 (GRCm39)	V32A	possibly damaging	Het
Dmkn	A	G	7: 30,477,076 (GRCm39)	D460G	possibly damaging	Het
Dmxl2	A	G	9: 54,308,241 (GRCm39)	V2170A	possibly damaging	Het
Dnah1	A	T	14: 31,009,833 (GRCm39)	F1912I	possibly damaging	Het
Dok3	C	T	13: 55,675,306 (GRCm39)	V71I	probably benign	Het
Dzip3	A	T	16: 48,795,837 (GRCm39)	F178Y	probably damaging	Het
Enpp1	T	C	10: 24,550,308 (GRCm39)		probably null	Het
Eogt	A	G	6: 97,090,913 (GRCm39)	F409L	probably damaging	Het
Erich6	A	T	3: 58,538,110 (GRCm39)	L218H	probably damaging	Het
Fam186a	G	C	15: 99,839,796 (GRCm39)	I2149M	possibly damaging	Het
Fat1	G	A	8: 45,476,464 (GRCm39)	V1837I	probably damaging	Het
Flrt3	T	A	2: 140,502,126 (GRCm39)	T501S	probably damaging	Het
Fmn1	A	C	2: 113,518,479 (GRCm39)	E1365D	probably damaging	Het
Fzd5	G	T	1: 64,775,251 (GRCm39)	P170Q	probably benign	Het
Gm14326	G	A	2: 177,588,298 (GRCm39)	H233Y	probably damaging	Het
Gm19410	G	A	8: 36,257,766 (GRCm39)	V735M	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,919 (GRCm39)	I143L		Het
Greb1	G	A	12: 16,766,766 (GRCm39)	T344I	probably benign	Het
Grik2	A	T	10: 49,399,918 (GRCm39)	Y271N	possibly damaging	Het
Grin3b	A	G	10: 79,808,885 (GRCm39)	N212D	probably benign	Het
Hgsnat	A	G	8: 26,461,077 (GRCm39)	L187P	probably damaging	Het
Hmcn1	A	G	1: 150,532,324 (GRCm39)	I3152T	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,728 (GRCm39)	I96N	unknown	Het
Il18r1	T	A	1: 40,510,932 (GRCm39)	L6I	probably damaging	Het
Ing3	G	A	6: 21,953,798 (GRCm39)	V80I	probably damaging	Het
Kif18b	T	C	11: 102,805,493 (GRCm39)	I255V	probably damaging	Het
Kif2c	A	T	4: 117,039,629 (GRCm39)	N20K	possibly damaging	Het
Mfsd6l	T	C	11: 68,448,864 (GRCm39)	W572R	probably damaging	Het
Mybphl	A	G	3: 108,281,496 (GRCm39)	T71A	probably benign	Het
Myo7a	G	T	7: 97,734,655 (GRCm39)	T613K	possibly damaging	Het
Nfatc3	T	C	8: 106,805,715 (GRCm39)	S195P	probably damaging	Het
Nrg1	T	C	8: 32,308,351 (GRCm39)	N603S	probably benign	Het
Or52ae9	T	C	7: 103,389,607 (GRCm39)	Y280C	probably damaging	Het
Or8k22	A	T	2: 86,163,697 (GRCm39)	M1K	probably null	Het
Or8k37	A	G	2: 86,470,013 (GRCm39)	I13T	possibly damaging	Het
Parp8	T	C	13: 117,031,341 (GRCm39)	E457G	probably damaging	Het
Pclo	T	C	5: 14,571,076 (GRCm39)	F154L	probably benign	Het
Pear1	A	G	3: 87,659,875 (GRCm39)	S704P	probably damaging	Het
Pkib	A	G	10: 57,612,394 (GRCm39)	T92A	probably benign	Het
Pnpla7	A	G	2: 24,888,678 (GRCm39)	R376G	possibly damaging	Het
Pramel28	A	T	4: 143,692,387 (GRCm39)	C205S	probably benign	Het
Ptprd	T	A	4: 75,984,564 (GRCm39)	E527D	probably benign	Het
Pum1	T	C	4: 130,474,337 (GRCm39)	V469A	probably damaging	Het
Rnf148	G	A	6: 23,654,283 (GRCm39)	Q238*	probably null	Het
Scn9a	A	C	2: 66,313,990 (GRCm39)	N1909K	probably benign	Het
Sema3c	A	T	5: 17,932,594 (GRCm39)	H699L	possibly damaging	Het
Sema3f	A	T	9: 107,566,927 (GRCm39)	C201S	probably damaging	Het
Serinc2	T	A	4: 130,152,583 (GRCm39)	D206V	probably benign	Het
Serping1	A	T	2: 84,597,637 (GRCm39)	S415T	probably benign	Het
Sirpb1b	A	T	3: 15,613,932 (GRCm39)	L50Q	probably damaging	Het
Slc5a8	A	G	10: 88,738,353 (GRCm39)	I205M	probably damaging	Het
Sod2	G	T	17: 13,226,918 (GRCm39)		probably benign	Het
Tec	T	C	5: 72,943,362 (GRCm39)	I118V	probably benign	Het
Tenm3	A	T	8: 48,740,847 (GRCm39)	V1212E	probably damaging	Het
Tex44	G	A	1: 86,354,237 (GRCm39)	V49I	probably benign	Het
Tmem132d	A	T	5: 127,861,205 (GRCm39)	L972*	probably null	Het
Tpte	G	A	8: 22,815,563 (GRCm39)		probably null	Het
Trim6	T	A	7: 103,882,039 (GRCm39)	I456N	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Ubxn8	A	T	8: 34,123,635 (GRCm39)	N101K	probably benign	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vmn2r83	A	G	10: 79,327,392 (GRCm39)	T667A	probably damaging	Het
Zpld2	T	C	4: 133,927,384 (GRCm39)		probably null	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
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
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'- AGTATGCGCCTTTCAGGAAG -3'
(R):5'- TTGCCAACCTGAATCAGCTGG -3'

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

Posted On

2019-10-17