Mutagenetix > Incidental Mutation

Incidental Mutation 'U24488:Slc25a21'

509890

Institutional Source

Beutler Lab

Gene Symbol

Slc25a21

Ensembl Gene

ENSMUSG00000035472

Gene Name

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

Synonyms

9930033G19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

U24488 (G0')

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56759419-57244257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56785282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 198 (N198K)

Ref Sequence

ENSEMBL: ENSMUSP00000151751 (fasta)

Gene Model

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

AlphaFold

Q8BZ09

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044634
AA Change: N191K

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472
AA Change: N191K

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

possibly damaging
Transcript: ENSMUST00000110680
AA Change: N198K

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: N198K

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

noncoding transcript
Transcript: ENSMUST00000160709

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217690
AA Change: N198K

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,580,772 (GRCm39)	Y922C	probably damaging	Het
Arhgef40	A	G	14: 52,235,673 (GRCm39)	T1185A	probably benign	Het
Atf7ip2	A	G	16: 10,022,537 (GRCm39)	N72S	probably damaging	Het
Carmil3	A	G	14: 55,734,636 (GRCm39)	D455G	probably benign	Het
Ccdc171	A	T	4: 83,579,954 (GRCm39)	E567V	probably damaging	Het
Chmp1b	T	A	18: 67,338,945 (GRCm39)	L125Q	probably damaging	Het
Cnr1	T	A	4: 33,944,927 (GRCm39)	N438K	probably benign	Het
Cplane1	G	T	15: 8,211,694 (GRCm39)	G345C	probably damaging	Het
Csmd3	G	A	15: 47,573,795 (GRCm39)	T2091M	probably damaging	Het
Cyp4a29	A	T	4: 115,108,204 (GRCm39)	H342L	possibly damaging	Het
Dnah10	G	A	5: 124,891,044 (GRCm39)	D3212N	probably damaging	Het
Dnah2	G	A	11: 69,374,648 (GRCm39)	T1447I	probably damaging	Het
F11	A	G	8: 45,695,349 (GRCm39)	S540P	probably benign	Het
Fcrl6	T	A	1: 172,426,437 (GRCm39)	H120L	probably damaging	Het
Frmd6	T	C	12: 70,940,653 (GRCm39)	S433P	probably damaging	Het
Fundc1	G	T	X: 17,434,342 (GRCm39)	A64E	probably damaging	Het
Garin2	A	T	12: 78,761,811 (GRCm39)	K158N	probably damaging	Het
Grid1	A	G	14: 35,302,534 (GRCm39)	E933G	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hoxb3	C	A	11: 96,235,456 (GRCm39)	Q128K	probably benign	Het
Il6st	C	T	13: 112,631,168 (GRCm39)	T369M	possibly damaging	Het
Itk	A	C	11: 46,228,971 (GRCm39)	M403R	probably damaging	Het
Katnip	A	T	7: 125,369,853 (GRCm39)	D147V	probably damaging	Het
Kif2c	T	C	4: 117,039,639 (GRCm39)	Q17R	probably benign	Het
Kifap3	T	C	1: 163,610,604 (GRCm39)	I28T	possibly damaging	Het
Kit	A	T	5: 75,783,674 (GRCm39)	R384*	probably null	Het
Ksr1	T	A	11: 78,938,267 (GRCm39)	I42F	probably damaging	Het
Lhcgr	T	A	17: 89,079,513 (GRCm39)		probably null	Het
Lrrc36	C	T	8: 106,176,384 (GRCm39)	H253Y	probably benign	Het
Mad1l1	T	A	5: 140,300,840 (GRCm39)	N19Y	probably damaging	Het
Marf1	A	T	16: 13,950,230 (GRCm39)	L1022*	probably null	Het
Mical3	T	G	6: 120,978,457 (GRCm39)	Q225P	possibly damaging	Het
Minar1	C	A	9: 89,485,100 (GRCm39)	G99V	probably damaging	Het
Myt1l	T	A	12: 29,876,895 (GRCm39)	M182K	unknown	Het
Nepro	A	G	16: 44,554,949 (GRCm39)	T342A	probably benign	Het
Nlrp5	A	T	7: 23,117,653 (GRCm39)	D459V	possibly damaging	Het
Nrcam	C	T	12: 44,584,042 (GRCm39)	P39S	probably damaging	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Ostm1	A	G	10: 42,555,227 (GRCm39)	D83G	possibly damaging	Het
Otoa	A	T	7: 120,717,763 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,143,040 (GRCm39)	I824T	probably damaging	Het
Plec	C	T	15: 76,061,930 (GRCm39)	R2534H	probably benign	Het
Plin2	A	G	4: 86,580,314 (GRCm39)	V60A	probably damaging	Het
Rps6ka4	A	G	19: 6,809,724 (GRCm39)	L367P	probably damaging	Het
Senp7	A	G	16: 56,005,182 (GRCm39)	N912D	probably damaging	Het
Slc4a10	A	G	2: 61,877,002 (GRCm39)	D5G	probably benign	Het
Tex16	T	C	X: 111,028,815 (GRCm39)	V438A	probably benign	Het
Tmem37	T	C	1: 119,995,684 (GRCm39)	Y131C	probably benign	Het
Top2a	A	C	11: 98,913,252 (GRCm39)	M60R	probably damaging	Het
Ush2a	C	T	1: 188,162,963 (GRCm39)	T1015I	probably damaging	Het
Vmn1r172	A	T	7: 23,359,171 (GRCm39)	I19F	probably benign	Het
Vmn1r230	A	C	17: 21,067,014 (GRCm39)	I68L	probably benign	Het
Vmn2r45	A	C	7: 8,475,361 (GRCm39)	C556G	probably damaging	Het
Vmn2r54	A	G	7: 12,349,356 (GRCm39)	I742T	possibly damaging	Het
Vps13c	A	G	9: 67,813,198 (GRCm39)	K960E	probably benign	Het
Wdcp	T	A	12: 4,900,405 (GRCm39)	V87E	probably damaging	Het
Wiz	C	T	17: 32,606,649 (GRCm39)	E29K	probably damaging	Het
Wnk3	C	T	X: 149,992,456 (GRCm39)	T298I	probably damaging	Het
Yif1b	A	C	7: 28,943,594 (GRCm39)	Q56P	probably benign	Het
Zbtb25	A	G	12: 76,396,014 (GRCm39)	W403R	probably benign	Het
Zcrb1	A	T	15: 93,285,515 (GRCm39)	S155R	probably damaging	Het
Zmym4	A	T	4: 126,819,453 (GRCm39)	I150K	possibly damaging	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
R7337:Slc25a21	UTSW	12	56,904,828 (GRCm39)	missense	probably benign	0.03
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

Predicted Primers

PCR Primer
(F):5'- CTTCGGAAGTCTCAGTTTCTGG -3'
(R):5'- TAGTCTGTTGCCTCCCATGG -3'

Sequencing Primer
(F):5'- CTCAGTTTCTGGATTTGAAAAGGAC -3'
(R):5'- CATGGTCCCAAAATGATGTCTC -3'

Posted On

2018-04-02