Mutagenetix > Incidental Mutation

Incidental Mutation 'R7125:Slc25a22'

552270

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

045327-MU

Accession Numbers

Essential gene?

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

Stock #

R7125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141009662-141017787 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141011655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 195 (L195P)

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 damaging
Transcript: ENSMUST00000019226
AA Change: L195P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082
AA Change: L195P

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 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 damaging
Transcript: ENSMUST00000106007
AA Change: L195P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101629
Gene: ENSMUSG00000019082
AA Change: L195P

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 damaging
Transcript: ENSMUST00000136354
AA Change: L195P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118948
Gene: ENSMUSG00000019082
AA Change: L195P

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 damaging
Transcript: ENSMUST00000138865
AA Change: L195P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120721
Gene: ENSMUSG00000019082
AA Change: L195P

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 damaging
Transcript: ENSMUST00000201127
AA Change: L191P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201710
AA Change: L195P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082
AA Change: L195P

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

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

96% (48/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	A	T	11: 80,255,751 (GRCm39)	C296S	probably damaging	Het
Ago3	T	C	4: 126,264,145 (GRCm39)	I354V	probably null	Het
Aldh1l1	G	A	6: 90,553,761 (GRCm39)		probably null	Het
Ankrd49	TAA	TA	9: 14,693,836 (GRCm39)		probably null	Het
B3gnt7	A	G	1: 86,233,099 (GRCm39)	Y115C	probably damaging	Het
Cacna1h	A	T	17: 25,602,510 (GRCm39)	M1506K	probably damaging	Het
Cars1	T	C	7: 143,138,510 (GRCm39)	T226A	probably benign	Het
Ccdc28b	T	A	4: 129,514,885 (GRCm39)	T75S	probably benign	Het
Cdc42bpg	A	G	19: 6,372,321 (GRCm39)	I1436V	probably damaging	Het
Cep152	A	T	2: 125,408,593 (GRCm39)	Y1320*	probably null	Het
Cntnap2	A	T	6: 46,965,580 (GRCm39)	Y797F	probably benign	Het
Coq8a	T	A	1: 179,996,366 (GRCm39)	N490I	probably damaging	Het
Csmd2	T	C	4: 128,389,955 (GRCm39)	L2230P		Het
Cyp4a14	A	T	4: 115,348,358 (GRCm39)	I373N	probably damaging	Het
Ddx1	A	G	12: 13,293,864 (GRCm39)	S86P	probably benign	Het
Dennd3	A	T	15: 73,405,140 (GRCm39)	I298F	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dnah2	T	C	11: 69,327,008 (GRCm39)	T3533A	probably damaging	Het
Fam53b	T	C	7: 132,373,357 (GRCm39)	H27R	probably damaging	Het
Firrm	T	C	1: 163,789,631 (GRCm39)	T635A	probably benign	Het
Fyb1	G	A	15: 6,674,337 (GRCm39)	E658K	possibly damaging	Het
Gapvd1	T	C	2: 34,585,612 (GRCm39)	S996G	probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Golgb1	T	A	16: 36,738,325 (GRCm39)	H2262Q	possibly damaging	Het
Gpam	T	C	19: 55,064,767 (GRCm39)	T646A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hexd	C	T	11: 121,095,496 (GRCm39)		probably benign	Het
Micu2	A	T	14: 58,209,238 (GRCm39)	Y73*	probably null	Het
N4bp2l2	T	C	5: 150,573,894 (GRCm39)		probably null	Het
Or11h7	T	C	14: 50,891,041 (GRCm39)	C116R	possibly damaging	Het
Or1e31	T	C	11: 73,689,990 (GRCm39)	M198V	probably benign	Het
Or1m1	A	T	9: 18,666,174 (GRCm39)	Y252*	probably null	Het
Or51t4	T	C	7: 102,598,386 (GRCm39)	V238A	probably damaging	Het
Or5b112	A	T	19: 13,319,103 (GRCm39)		probably null	Het
P3r3urf	A	G	4: 116,030,667 (GRCm39)	M24V	probably benign	Het
Prkca	A	G	11: 107,874,848 (GRCm39)	Y365H	probably damaging	Het
Ptpre	C	T	7: 135,255,744 (GRCm39)	R155*	probably null	Het
Ryr2	T	A	13: 11,684,873 (GRCm39)	N3023Y	probably damaging	Het
S100a7a	A	G	3: 90,562,822 (GRCm39)	D3G	probably benign	Het
Scn2a	T	C	2: 65,594,277 (GRCm39)	F1709L	probably damaging	Het
Slc15a2	T	C	16: 36,602,660 (GRCm39)	E67G	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,572,290 (GRCm39)		probably benign	Het
Stim1	T	A	7: 102,084,741 (GRCm39)	H564Q	possibly damaging	Het
Sulf2	C	T	2: 165,917,448 (GRCm39)	W855*	probably null	Het
Tenm3	T	C	8: 49,127,588 (GRCm39)	N30S	probably benign	Het
Trim59	T	C	3: 68,944,197 (GRCm39)	D381G	probably benign	Het
Ttc21b	T	C	2: 66,066,670 (GRCm39)	T328A	probably benign	Het
Ttc6	C	G	12: 57,623,125 (GRCm39)	Q175E	probably benign	Het
Vmn2r44	T	C	7: 8,370,941 (GRCm39)	I702V	probably damaging	Het
Zfp768	A	T	7: 126,943,959 (GRCm39)	F59L	probably 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
R5234:Slc25a22	UTSW	7	141,014,116 (GRCm39)	start gained	probably benign
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'- GACCATCACAAGGGTTGACG -3'
(R):5'- CTCAGAGGAAGATTCTGGCTG -3'

Sequencing Primer
(F):5'- CAGCCTGCTAGGAAGGACAC -3'
(R):5'- TGCCCAGGCTCAGCTCTC -3'

Posted On

2019-05-15