Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Slc25a16'

671004

Institutional Source

Beutler Lab

Gene Symbol

Slc25a16

Ensembl Gene

ENSMUSG00000071253

Gene Name

solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16

Synonyms

ML7, 3110021G18Rik, HGT.1

MMRRC Submission

068635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62756454-62782278 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 62764119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 59 (R59*)

Ref Sequence

ENSEMBL: ENSMUSP00000043370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000144459]

AlphaFold

Q8C0K5

Predicted Effect

probably null
Transcript: ENSMUST00000044977
AA Change: R59*

SMART Domains

Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253
AA Change: R59*

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	1.7e-25	PFAM
Pfam:Mito_carr	127	220	2.3e-26	PFAM
Pfam:Mito_carr	237	332	8.6e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000144459
AA Change: R59*

SMART Domains

Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253
AA Change: R59*

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Pfam:Mito_carr	32	125	9.4e-28	PFAM
Pfam:Mito_carr	126	223	4.6e-25	PFAM
Pfam:Mito_carr	240	322	2.3e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,793,697 (GRCm39)	I382T	probably damaging	Het
Adam39	G	T	8: 41,279,613 (GRCm39)	R668L	probably benign	Het
Adam6b	T	C	12: 113,455,310 (GRCm39)	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,836,522 (GRCm39)	E692G	probably damaging	Het
Asxl2	T	C	12: 3,546,536 (GRCm39)	L440P	probably benign	Het
Atosb	G	A	4: 43,033,546 (GRCm39)	P536S	probably damaging	Het
Bmf	A	G	2: 118,377,386 (GRCm39)	F121L	probably damaging	Het
Cblif	C	A	19: 11,727,599 (GRCm39)	A141E	probably damaging	Het
Cdk9	A	T	2: 32,598,269 (GRCm39)	F262L	probably benign	Het
Clock	T	A	5: 76,410,574 (GRCm39)	D99V	probably damaging	Het
Dnah14	A	T	1: 181,642,189 (GRCm39)	T102S		Het
Eps15	T	C	4: 109,162,908 (GRCm39)	V67A	probably benign	Het
Fam171b	T	A	2: 83,643,103 (GRCm39)	L4H	probably damaging	Het
Fcho2	T	A	13: 98,951,769 (GRCm39)		probably benign	Het
Gal3st4	C	T	5: 138,269,251 (GRCm39)	V70M	probably damaging	Het
Garin2	C	T	12: 78,761,924 (GRCm39)	T196M	probably damaging	Het
Got1l1	C	A	8: 27,690,749 (GRCm39)		probably null	Het
Gpr146	A	G	5: 139,378,549 (GRCm39)	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,558,137 (GRCm39)	V346M	probably damaging	Het
Herc1	C	A	9: 66,372,768 (GRCm39)	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,890,226 (GRCm39)	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,835,104 (GRCm39)		probably benign	Het
Ift70a1	C	A	2: 75,811,898 (GRCm39)	E62*	probably null	Het
Lama4	T	G	10: 38,924,048 (GRCm39)	I485M	probably benign	Het
Lrp4	C	T	2: 91,325,300 (GRCm39)	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,463,549 (GRCm39)	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,821,773 (GRCm39)	Q692*	probably null	Het
Mark2	G	T	19: 7,258,580 (GRCm39)	H570N	probably benign	Het
Mlph	T	C	1: 90,870,682 (GRCm39)		probably benign	Het
Mnx1	G	A	5: 29,683,372 (GRCm39)		probably benign	Het
Nkx2-2	A	T	2: 147,019,813 (GRCm39)	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,050,919 (GRCm39)	I1058V	probably benign	Het
Nwd2	T	C	5: 63,963,047 (GRCm39)	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,508,669 (GRCm39)	N509I	possibly damaging	Het
Or1e27-ps1	T	C	11: 73,555,471 (GRCm39)	L12P	probably damaging	Het
Or4c121	T	C	2: 89,024,231 (GRCm39)	Y49C	probably benign	Het
Or4f14b	G	C	2: 111,775,073 (GRCm39)	H243D	probably damaging	Het
Pabpc6	T	C	17: 9,888,332 (GRCm39)	N73S	probably damaging	Het
Parp12	A	G	6: 39,065,984 (GRCm39)	F580L	probably benign	Het
Parvg	C	A	15: 84,213,160 (GRCm39)	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,582,541 (GRCm39)	V549A	probably damaging	Het
Pde8b	T	A	13: 95,179,534 (GRCm39)	H374L	probably benign	Het
Pgap4	T	C	4: 49,587,067 (GRCm39)	T34A	possibly damaging	Het
Phf2	C	T	13: 48,970,981 (GRCm39)		probably benign	Het
Pld4	T	C	12: 112,729,924 (GRCm39)	F69L	probably benign	Het
Qrich2	T	C	11: 116,347,456 (GRCm39)	I1123V	unknown	Het
Rida	C	T	15: 34,495,242 (GRCm39)	V8M	possibly damaging	Het
Rnf19b	T	A	4: 128,952,478 (GRCm39)	C139S	probably damaging	Het
Rp1	T	C	1: 4,095,091 (GRCm39)	I1254M	unknown	Het
Rpl3l	A	G	17: 24,947,447 (GRCm39)	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 34,022,942 (GRCm39)	I147N	possibly damaging	Het
Slc12a4	G	A	8: 106,673,390 (GRCm39)	T727I	probably damaging	Het
Strc	T	A	2: 121,208,286 (GRCm39)	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tll1	T	A	8: 64,538,499 (GRCm39)	T382S	probably damaging	Het
Tmprss6	T	A	15: 78,328,328 (GRCm39)	D556V	probably damaging	Het
Ttc13	A	G	8: 125,401,099 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,767,244 (GRCm39)	K709*	probably null	Het
Vcan	A	T	13: 89,840,230 (GRCm39)	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,659,669 (GRCm39)	I81V	probably benign	Het
Zxdc	A	G	6: 90,346,986 (GRCm39)	T116A	probably benign	Het

Other mutations in Slc25a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Slc25a16	APN	10	62,780,212 (GRCm39)	splice site	probably null
IGL01963:Slc25a16	APN	10	62,766,220 (GRCm39)	splice site	probably null
IGL02130:Slc25a16	APN	10	62,780,137 (GRCm39)	missense	probably benign	0.02
R1503:Slc25a16	UTSW	10	62,764,155 (GRCm39)	missense	probably damaging	1.00
R1533:Slc25a16	UTSW	10	62,756,643 (GRCm39)	missense	probably damaging	0.97
R2067:Slc25a16	UTSW	10	62,768,530 (GRCm39)	missense	probably benign	0.25
R4388:Slc25a16	UTSW	10	62,764,105 (GRCm39)	missense	probably benign	0.18
R6225:Slc25a16	UTSW	10	62,764,102 (GRCm39)	missense	probably damaging	1.00
R6457:Slc25a16	UTSW	10	62,776,938 (GRCm39)	missense	probably benign	0.20
R6459:Slc25a16	UTSW	10	62,773,256 (GRCm39)	nonsense	probably null
R7009:Slc25a16	UTSW	10	62,773,233 (GRCm39)	missense	possibly damaging	0.95
R7814:Slc25a16	UTSW	10	62,773,199 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGAACCTTTTACCAAGCACTTC -3'
(R):5'- GGCAAGTTGGCAAAATTTCAAC -3'

Sequencing Primer
(F):5'- CAAGCACTTCTCCCCATGG -3'
(R):5'- CTGGGAATCATCTCTGTGAAGCC -3'

Posted On

2021-04-30