Mutagenetix > Incidental Mutation

Incidental Mutation 'R7337:Slc25a21'

569601

Institutional Source

Beutler Lab

Gene Symbol

Slc25a21

Ensembl Gene

ENSMUSG00000035472

Gene Name

solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21

Synonyms

9930033G19Rik

MMRRC Submission

045427-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

R7337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56759419-57244257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56904828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 62 (I62V)

Ref Sequence

ENSEMBL: ENSMUSP00000039289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044634] [ENSMUST00000110680] [ENSMUST00000217690]

AlphaFold

Q8BZ09

Predicted Effect

probably benign
Transcript: ENSMUST00000044634
AA Change: I62V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472
AA Change: I62V

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	10	104	2.3e-24	PFAM
Pfam:Mito_carr	107	200	1.3e-16	PFAM
Pfam:Mito_carr	202	298	3.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110680
AA Change: I69V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: I69V

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	28	111	4.7e-21	PFAM
Pfam:Mito_carr	114	207	7.7e-17	PFAM
Pfam:Mito_carr	209	305	2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217690
AA Change: I69V

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,076,113 (GRCm39)	H1198Q	probably damaging	Het
Adamts14	A	G	10: 61,043,239 (GRCm39)	V743A	probably damaging	Het
Adgrg6	A	G	10: 14,343,095 (GRCm39)	V284A	possibly damaging	Het
Alb	A	G	5: 90,622,452 (GRCm39)	K560R	probably damaging	Het
Aqp9	A	T	9: 71,069,764 (GRCm39)	F8L	probably benign	Het
Arhgef7	T	C	8: 11,835,789 (GRCm39)	L182P	probably damaging	Het
Atr	A	G	9: 95,753,501 (GRCm39)	D701G	probably damaging	Het
Calr3	C	T	8: 73,185,339 (GRCm39)	D187N	probably damaging	Het
Ccdc198	A	G	14: 49,471,948 (GRCm39)	M163T	possibly damaging	Het
Ccdc65	A	G	15: 98,618,977 (GRCm39)	T319A	probably benign	Het
Ccdc66	A	T	14: 27,222,290 (GRCm39)	L151H	probably damaging	Het
Ces2e	T	A	8: 105,657,688 (GRCm39)		probably null	Het
Cfap46	A	G	7: 139,210,492 (GRCm39)		probably null	Het
Cfap74	A	G	4: 155,544,472 (GRCm39)	T1034A	unknown	Het
Cldnd1	T	G	16: 58,549,322 (GRCm39)		probably null	Het
Clec4f	C	A	6: 83,630,190 (GRCm39)	V123L	probably benign	Het
Cntn6	C	T	6: 104,627,491 (GRCm39)	T108I	probably damaging	Het
Crygn	T	G	5: 24,961,147 (GRCm39)	D53A	possibly damaging	Het
Cyp27a1	T	A	1: 74,774,594 (GRCm39)	V204E	probably damaging	Het
Cyp2c67	A	T	19: 39,597,708 (GRCm39)		probably null	Het
Ddb1	T	C	19: 10,605,195 (GRCm39)	V1061A	possibly damaging	Het
Dnah12	G	T	14: 26,488,534 (GRCm39)		probably null	Het
Draxin	T	C	4: 148,197,216 (GRCm39)	T194A	probably benign	Het
Drosha	T	A	15: 12,846,285 (GRCm39)	D473E	possibly damaging	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
G6pd2	T	A	5: 61,967,562 (GRCm39)	C446S	probably benign	Het
Gm29106	C	T	1: 118,104,642 (GRCm39)	S3L	unknown	Het
Grin3a	T	C	4: 49,702,762 (GRCm39)	Y908C	probably damaging	Het
Ints2	G	A	11: 86,108,668 (GRCm39)	A893V	probably benign	Het
Ippk	C	T	13: 49,602,767 (GRCm39)	T371I	probably benign	Het
Irf2	T	A	8: 47,260,316 (GRCm39)	C83S	probably damaging	Het
Jph3	C	T	8: 122,480,441 (GRCm39)	A373V	probably benign	Het
Kcnj6	C	T	16: 94,634,073 (GRCm39)	V13I	probably benign	Het
Lama3	T	C	18: 12,640,097 (GRCm39)		probably null	Het
Lmo7	A	T	14: 102,121,640 (GRCm39)	Q235L	probably damaging	Het
Marchf7	A	G	2: 60,071,189 (GRCm39)		probably null	Het
Mfsd6l	A	T	11: 68,448,109 (GRCm39)	Y320F	possibly damaging	Het
Mroh1	T	A	15: 76,335,676 (GRCm39)	W1440R	probably benign	Het
Mrps17	G	A	5: 129,793,863 (GRCm39)	G19D	probably damaging	Het
Myt1	A	G	2: 181,444,756 (GRCm39)	H566R	possibly damaging	Het
Nav2	T	C	7: 49,201,521 (GRCm39)	L176P	possibly damaging	Het
Nop58	T	A	1: 59,737,599 (GRCm39)	C139S	probably benign	Het
Nsd1	A	G	13: 55,394,022 (GRCm39)	D644G	probably damaging	Het
Nsd2	T	A	5: 34,042,816 (GRCm39)	C1027S	probably damaging	Het
Nsmce2	A	G	15: 59,473,265 (GRCm39)	I235V	probably damaging	Het
Nyap2	T	C	1: 81,314,230 (GRCm39)	V642A	possibly damaging	Het
Or14n1-ps1	A	T	7: 86,092,328 (GRCm39)	L46F	unknown	Het
Or8g51	A	G	9: 38,609,161 (GRCm39)	V167A	probably benign	Het
Paqr7	A	G	4: 134,234,431 (GRCm39)	D96G	probably benign	Het
Parp4	A	G	14: 56,839,852 (GRCm39)	Y520C	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Piezo1	A	T	8: 123,212,463 (GRCm39)	Y1955N		Het
Pnma8a	A	G	7: 16,695,315 (GRCm39)	K390R	probably benign	Het
Prdm10	G	T	9: 31,227,537 (GRCm39)	Q47H	probably damaging	Het
Psg22	T	A	7: 18,453,499 (GRCm39)	F104I	probably benign	Het
Ptprf	T	C	4: 118,068,322 (GRCm39)	E1738G	probably damaging	Het
Rad21l	A	T	2: 151,500,365 (GRCm39)	L218Q	probably damaging	Het
Rad54l2	A	G	9: 106,583,024 (GRCm39)	I798T	probably damaging	Het
Rgs5	G	T	1: 169,483,149 (GRCm39)	M1I	probably null	Het
Rhbdl2	T	C	4: 123,711,659 (GRCm39)	V132A	possibly damaging	Het
Rmi1	T	A	13: 58,557,393 (GRCm39)	Y547*	probably null	Het
Rptn	A	T	3: 93,304,212 (GRCm39)	D515V	probably benign	Het
Rsph10b	A	G	5: 143,898,033 (GRCm39)	N505D	probably benign	Het
Samhd1	T	C	2: 156,948,164 (GRCm39)	D539G	probably damaging	Het
Scube3	A	T	17: 28,387,156 (GRCm39)	I885F	probably damaging	Het
Sfmbt1	A	G	14: 30,506,696 (GRCm39)	I247V	possibly damaging	Het
Slc4a11	T	A	2: 130,527,452 (GRCm39)	N648Y	probably damaging	Het
Slc7a11	A	G	3: 50,397,448 (GRCm39)	V88A	possibly damaging	Het
Slc7a8	A	C	14: 54,964,263 (GRCm39)	F397V	possibly damaging	Het
Sox12	A	C	2: 152,239,377 (GRCm39)	L81R	probably damaging	Het
Spg11	T	C	2: 121,915,474 (GRCm39)	I1057V	probably benign	Het
St8sia3	G	A	18: 64,402,987 (GRCm39)	V265I	probably benign	Het
Stxbp5	A	G	10: 9,684,874 (GRCm39)	S509P	possibly damaging	Het
Svep1	T	C	4: 58,108,323 (GRCm39)	Y1129C	probably damaging	Het
Tenm4	G	T	7: 96,523,333 (GRCm39)	R1625L	probably benign	Het
Tlr4	T	C	4: 66,758,191 (GRCm39)	F328S	possibly damaging	Het
Tmprss15	T	C	16: 78,868,164 (GRCm39)	T215A	probably benign	Het
Tmprss9	A	T	10: 80,718,504 (GRCm39)	I62L	probably benign	Het
Trpm5	C	T	7: 142,642,756 (GRCm39)	A64T	probably benign	Het
Txk	A	C	5: 72,889,109 (GRCm39)	Y148*	probably null	Het
Uba5	C	T	9: 103,932,454 (GRCm39)	G170R	possibly damaging	Het
Uggt2	A	T	14: 119,323,587 (GRCm39)	D231E	probably benign	Het
Ulk4	A	T	9: 121,077,993 (GRCm39)	D525E	probably benign	Het
Vmn1r158	T	A	7: 22,489,649 (GRCm39)	T187S	probably benign	Het
Vmn1r52	T	A	6: 90,156,605 (GRCm39)	M303K	probably benign	Het
Vmn2r54	A	G	7: 12,356,044 (GRCm39)	F454S	probably benign	Het
Zbp1	A	T	2: 173,060,546 (GRCm39)	L8*	probably null	Het
Zmym2	A	T	14: 57,181,557 (GRCm39)	D924V	probably benign	Het

Other mutations in Slc25a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Slc25a21	APN	12	56,764,922 (GRCm39)	splice site	probably null
IGL00776:Slc25a21	APN	12	56,816,990 (GRCm39)	missense	probably benign	0.43
IGL00788:Slc25a21	APN	12	56,760,597 (GRCm39)	utr 3 prime	probably benign
IGL01396:Slc25a21	APN	12	57,205,974 (GRCm39)	missense	probably benign
IGL01656:Slc25a21	APN	12	56,785,280 (GRCm39)	missense	probably damaging	1.00
IGL03095:Slc25a21	APN	12	56,785,410 (GRCm39)	missense	probably benign	0.09
R0285:Slc25a21	UTSW	12	56,904,810 (GRCm39)	critical splice donor site	probably null
R1238:Slc25a21	UTSW	12	56,785,272 (GRCm39)	missense	probably benign	0.00
R1509:Slc25a21	UTSW	12	56,904,864 (GRCm39)	missense	probably benign	0.00
R1803:Slc25a21	UTSW	12	56,904,872 (GRCm39)	missense	probably benign	0.01
R3862:Slc25a21	UTSW	12	56,764,920 (GRCm39)	splice site	probably benign
R4684:Slc25a21	UTSW	12	57,243,721 (GRCm39)	missense	probably benign	0.00
R4816:Slc25a21	UTSW	12	56,760,623 (GRCm39)	missense	probably damaging	1.00
R5718:Slc25a21	UTSW	12	56,764,941 (GRCm39)	missense	probably benign	0.00
R6265:Slc25a21	UTSW	12	57,243,685 (GRCm39)	missense	probably benign	0.33
R6953:Slc25a21	UTSW	12	57,205,954 (GRCm39)	missense	probably benign
R8980:Slc25a21	UTSW	12	56,816,949 (GRCm39)	missense	probably benign	0.00
R9750:Slc25a21	UTSW	12	56,785,382 (GRCm39)	missense	probably benign	0.00
U24488:Slc25a21	UTSW	12	56,785,282 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CTGACTCTAGGGAATGGAGGTG -3'
(R):5'- GAAACAGAAACCTGGGCTCTC -3'

Sequencing Primer
(F):5'- CTAGGGAATGGAGGTGGGCTAAAG -3'
(R):5'- GAAACCTGGGCTCTCATAAAGTAC -3'

Posted On

2019-09-13