Mutagenetix > Incidental Mutation

Incidental Mutation 'R8784:Slc25a22'

670490

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

068606-MU

Accession Numbers

Essential gene?

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

Stock #

R8784 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

141009662-141017787 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to C at 141011020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glycine at position 324 (*324G)

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 null
Transcript: ENSMUST00000019226
AA Change: *324G

SMART Domains

Protein: ENSMUSP00000019226
Gene: ENSMUSG00000019082
AA Change: *324G

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 null
Transcript: ENSMUST00000106006
AA Change: *230G

SMART Domains

Protein: ENSMUSP00000101628
Gene: ENSMUSG00000019082
AA Change: *230G

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 null
Transcript: ENSMUST00000106007
AA Change: *324G

SMART Domains

Protein: ENSMUSP00000101629
Gene: ENSMUSG00000019082
AA Change: *324G

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 null
Transcript: ENSMUST00000201710
AA Change: *324G

SMART Domains

Protein: ENSMUSP00000144231
Gene: ENSMUSG00000019082
AA Change: *324G

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,652,025 (GRCm39)	M614K	probably benign	Het
Adamts7	G	T	9: 90,075,918 (GRCm39)	V1217L	probably null	Het
Adcyap1r1	T	A	6: 55,458,100 (GRCm39)	N300K	probably damaging	Het
Atf7ip	A	G	6: 136,576,648 (GRCm39)	D1017G	probably damaging	Het
Atg2b	A	C	12: 105,605,500 (GRCm39)	D1488E	probably damaging	Het
Atxn2	A	G	5: 121,933,091 (GRCm39)	T805A	probably benign	Het
Azi2	A	T	9: 117,884,960 (GRCm39)	H223L	probably benign	Het
Banp	T	A	8: 122,727,852 (GRCm39)	S349T	probably damaging	Het
Bicra	A	T	7: 15,705,875 (GRCm39)	I1522N	probably damaging	Het
Brca2	A	T	5: 150,472,126 (GRCm39)	R2342*	probably null	Het
C6	T	C	15: 4,822,622 (GRCm39)	C623R	probably damaging	Het
Cc2d2a	T	C	5: 43,860,645 (GRCm39)	Y574H	possibly damaging	Het
Cdk5rap3	C	T	11: 96,803,212 (GRCm39)	C115Y	probably benign	Het
Chrm4	T	A	2: 91,758,033 (GRCm39)	M147K	probably benign	Het
Cit	A	T	5: 115,984,442 (GRCm39)	K5*	probably null	Het
Ciz1	T	A	2: 32,260,262 (GRCm39)	S231T	probably benign	Het
Crebrf	A	G	17: 26,961,520 (GRCm39)	I206V	probably benign	Het
Cyc1	T	C	15: 76,227,863 (GRCm39)	S34P	probably benign	Het
Dnah5	A	G	15: 28,388,097 (GRCm39)	I3185M	probably benign	Het
Dtnbp1	T	C	13: 45,075,702 (GRCm39)	D347G	unknown	Het
Dzip3	A	T	16: 48,751,628 (GRCm39)	V767E	probably damaging	Het
Gdf3	A	T	6: 122,583,279 (GRCm39)	C363S	probably damaging	Het
Glb1l	T	C	1: 75,176,975 (GRCm39)	K487R	probably damaging	Het
Gm9747	T	C	1: 82,212,002 (GRCm39)	V67A	unknown	Het
Hoxb2	A	G	11: 96,242,736 (GRCm39)	T34A	possibly damaging	Het
Ifnk	C	T	4: 35,152,383 (GRCm39)	R104C	probably damaging	Het
Igfbp1	A	T	11: 7,151,952 (GRCm39)	I252F	probably damaging	Het
Ighv1-74	T	C	12: 115,766,480 (GRCm39)	T47A	probably benign	Het
Igkv4-62	A	T	6: 69,376,946 (GRCm39)	W68R	probably damaging	Het
Il23r	A	G	6: 67,443,401 (GRCm39)	I234T	probably damaging	Het
Ints2	T	A	11: 86,112,963 (GRCm39)	I852F	probably damaging	Het
Ints2	G	A	11: 86,115,941 (GRCm39)	Q763*	probably null	Het
Jhy	T	G	9: 40,872,182 (GRCm39)	H109P	probably benign	Het
Katna1	T	A	10: 7,614,579 (GRCm39)	V29D	possibly damaging	Het
Kcng4	T	A	8: 120,352,970 (GRCm39)	E313D	probably benign	Het
Klf14	T	A	6: 30,935,049 (GRCm39)	H195L	probably damaging	Het
Lama3	A	G	18: 12,554,212 (GRCm39)	N472S	probably benign	Het
Layn	A	T	9: 50,970,781 (GRCm39)	V254E	possibly damaging	Het
Lrba	A	T	3: 86,283,235 (GRCm39)	S1850C	probably damaging	Het
Map1s	A	G	8: 71,358,909 (GRCm39)	I2V	unknown	Het
Map3k12	T	A	15: 102,413,797 (GRCm39)	Q58L	possibly damaging	Het
Minpp1	T	C	19: 32,491,396 (GRCm39)	V358A	probably benign	Het
Mymk	C	G	2: 26,961,947 (GRCm39)	K27N	possibly damaging	Het
Nek8	T	C	11: 78,063,375 (GRCm39)	K130E	probably damaging	Het
Ngef	T	A	1: 87,405,293 (GRCm39)	S706C	probably damaging	Het
Nsun6	G	A	2: 15,001,306 (GRCm39)	Q417*	probably null	Het
Ntsr2	G	T	12: 16,706,852 (GRCm39)	Q293H	probably damaging	Het
Ocln	T	A	13: 100,676,050 (GRCm39)	I148F	probably damaging	Het
Or12d12	A	G	17: 37,610,701 (GRCm39)	I204T	probably benign	Het
Or4p19	A	T	2: 88,242,091 (GRCm39)	Y304N	probably benign	Het
Or8g30	T	A	9: 39,229,989 (GRCm39)	Q307L	probably benign	Het
Pank3	T	G	11: 35,672,412 (GRCm39)	F272V	probably damaging	Het
Piezo1	A	T	8: 123,223,328 (GRCm39)		probably benign	Het
Plppr4	G	A	3: 117,116,190 (GRCm39)	R556*	probably null	Het
Polr1a	G	T	6: 71,927,612 (GRCm39)	R821L	probably benign	Het
Ppp1r36	C	T	12: 76,485,967 (GRCm39)	T375I	probably benign	Het
Ptprj	T	A	2: 90,290,856 (GRCm39)	I628F	possibly damaging	Het
Puf60	C	A	15: 75,949,525 (GRCm39)	V29F	unknown	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf1	A	G	9: 107,435,041 (GRCm39)	S179G	probably benign	Het
Rbm6	A	G	9: 107,665,337 (GRCm39)	S772P	possibly damaging	Het
Rnf103	T	G	6: 71,486,982 (GRCm39)	S538A	probably benign	Het
Scoc	C	A	8: 84,164,245 (GRCm39)	V58L	probably benign	Het
Secisbp2l	G	A	2: 125,602,263 (GRCm39)	Q366*	probably null	Het
Slc16a14	T	C	1: 84,890,784 (GRCm39)	T174A	probably benign	Het
Smarca2	C	T	19: 26,753,558 (GRCm39)	T197I	probably benign	Het
Speg	T	C	1: 75,381,793 (GRCm39)		probably benign	Het
Srgap2	T	A	1: 131,223,212 (GRCm39)	N858I	unknown	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tbc1d22b	T	C	17: 29,818,918 (GRCm39)	I424T	probably damaging	Het
Tcaf1	T	G	6: 42,656,221 (GRCm39)	T252P	probably benign	Het
Thbs1	A	G	2: 117,943,613 (GRCm39)	D77G	probably damaging	Het
Tlcd3a	T	C	11: 76,098,941 (GRCm39)	F237S	probably damaging	Het
Trim21	T	C	7: 102,208,675 (GRCm39)	E348G	probably benign	Het
Trpm3	A	G	19: 22,896,040 (GRCm39)	D959G	probably benign	Het
Ttc24	A	T	3: 87,980,033 (GRCm39)	C182*	probably null	Het
Tti1	T	C	2: 157,850,514 (GRCm39)	T242A	probably benign	Het
Ube2q2l	G	A	6: 136,378,729 (GRCm39)	Q34*	probably null	Het
Ube3b	G	T	5: 114,526,800 (GRCm39)	C100F	probably damaging	Het
Vmn1r26	T	A	6: 57,985,440 (GRCm39)	T250S	possibly damaging	Het
Vnn1	A	G	10: 23,780,526 (GRCm39)	T505A	probably benign	Het
Vps13a	C	A	19: 16,642,153 (GRCm39)	W2158L	probably damaging	Het
Vwa1	A	T	4: 155,857,345 (GRCm39)	V151E	probably damaging	Het
Zfp14	A	G	7: 29,742,961 (GRCm39)	S46P	probably damaging	Het
Zfp773	C	A	7: 7,135,570 (GRCm39)	C342F	probably benign	Het
Zscan12	T	A	13: 21,547,991 (GRCm39)	S58T	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
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
R8991:Slc25a22	UTSW	7	141,013,871 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGACAGAACTGGCTTGAG -3'
(R):5'- CACTTACTCTGGGTTTCTGGAC -3'

Sequencing Primer
(F):5'- ACTGGCTTGAGGAATGTACAGATTTC -3'
(R):5'- ACTGTGCAAGGTGGGCCAG -3'

Posted On

2021-04-30