Mutagenetix > Incidental Mutation

Incidental Mutation 'R8261:Slc25a31'

639908

Institutional Source

Beutler Lab

Gene Symbol

Slc25a31

Ensembl Gene

ENSMUSG00000069041

Gene Name

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31

Synonyms

1700034J06Rik

MMRRC Submission

067686-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.464) question?

Stock #

R8261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40663301-40680525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40679351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 272 (I272T)

Ref Sequence

ENSEMBL: ENSMUSP00000088723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091184]

AlphaFold

Q3V132

Predicted Effect

probably damaging
Transcript: ENSMUST00000091184
AA Change: I272T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088723
Gene: ENSMUSG00000069041
AA Change: I272T

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:Mito_carr	17	116	1.3e-26	PFAM
Pfam:Mito_carr	122	219	1.3e-25	PFAM
Pfam:Mito_carr	219	313	8.9e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Male mice homozygous for a null allele exhibit infertility, arrested meiosis and increased apoptosis of the spermatocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,425 (GRCm39)	E5G	probably benign	Het
Adam23	T	C	1: 63,567,957 (GRCm39)	V202A	noncoding transcript	Het
Adamtsl1	A	C	4: 86,195,120 (GRCm39)	E512D	probably damaging	Het
Ahnak	A	T	19: 8,982,817 (GRCm39)	D1367V	probably damaging	Het
Angpt4	A	T	2: 151,769,084 (GRCm39)	Q198L	probably benign	Het
Apcdd1	T	A	18: 63,066,974 (GRCm39)	H29Q	possibly damaging	Het
Cdh16	T	A	8: 105,341,811 (GRCm39)	K755*	probably null	Het
Cdk6	T	G	5: 3,440,685 (GRCm39)	F80V	probably benign	Het
Chd1	T	C	17: 17,607,804 (GRCm39)	S451P	probably benign	Het
Chd6	A	G	2: 160,799,002 (GRCm39)	L2361P	probably damaging	Het
Chst8	A	G	7: 34,447,579 (GRCm39)	M13T	possibly damaging	Het
Cntnap2	T	C	6: 47,072,627 (GRCm39)	L1065P	probably damaging	Het
Dctn4	T	C	18: 60,659,343 (GRCm39)	V14A	possibly damaging	Het
Dicer1	A	T	12: 104,657,865 (GRCm39)	V1903D	probably damaging	Het
E2f2	A	G	4: 135,911,791 (GRCm39)		silent	Het
Eif4g3	T	A	4: 137,898,429 (GRCm39)	S902T	possibly damaging	Het
Emid1	G	T	11: 5,084,353 (GRCm39)	A152D	probably benign	Het
Fer1l6	T	A	15: 58,432,345 (GRCm39)	N297K	possibly damaging	Het
Fes	T	C	7: 80,032,902 (GRCm39)	D281G	probably null	Het
Frmpd2	T	C	14: 33,224,934 (GRCm39)	V133A	probably benign	Het
Fry	A	G	5: 150,369,372 (GRCm39)	Y2282C	probably damaging	Het
Gm10377	C	T	14: 42,616,664 (GRCm39)		probably null	Het
Gm1527	A	G	3: 28,974,749 (GRCm39)	T521A	probably damaging	Het
Gpr141	T	A	13: 19,936,013 (GRCm39)	H254L	probably benign	Het
Gpr160	A	G	3: 30,950,096 (GRCm39)	E56G	probably benign	Het
Grid2ip	T	G	5: 143,367,695 (GRCm39)		probably null	Het
Grin2a	A	G	16: 9,481,382 (GRCm39)	F473S	probably damaging	Het
Igkv1-131	T	C	6: 67,743,102 (GRCm39)	T94A	probably damaging	Het
Inava	T	A	1: 136,153,215 (GRCm39)	N226Y	probably damaging	Het
Iqgap2	A	G	13: 95,772,078 (GRCm39)	L1367P	probably damaging	Het
Kdm5d	T	A	Y: 936,929 (GRCm39)	M856K	probably damaging	Het
Kirrel1	T	C	3: 86,995,309 (GRCm39)		probably benign	Het
Lad1	T	C	1: 135,755,500 (GRCm39)	S259P	probably damaging	Het
Lalba	A	T	15: 98,379,992 (GRCm39)	F86Y	possibly damaging	Het
Lrfn5	G	A	12: 61,886,323 (GRCm39)	C37Y	probably damaging	Het
Man2c1	A	G	9: 57,046,942 (GRCm39)	T665A	probably benign	Het
Ms4a20	T	A	19: 11,087,707 (GRCm39)	S75C	probably damaging	Het
Myh11	T	C	16: 14,041,867 (GRCm39)	I719V		Het
Nbl1	A	T	4: 138,812,832 (GRCm39)	C34S	probably damaging	Het
Ncapg	T	A	5: 45,844,730 (GRCm39)	I575N	possibly damaging	Het
Nlgn1	T	C	3: 25,487,816 (GRCm39)	T840A	possibly damaging	Het
Nrdc	T	C	4: 108,873,876 (GRCm39)	S231P	possibly damaging	Het
Nrg2	T	C	18: 36,165,428 (GRCm39)	K395E	probably benign	Het
Nrip1	A	T	16: 76,088,949 (GRCm39)	N869K	possibly damaging	Het
Or2a14	T	A	6: 43,130,242 (GRCm39)	M1K	probably null	Het
Or4c12	A	G	2: 89,773,716 (GRCm39)	F248L	probably benign	Het
Or8s16	A	T	15: 98,210,546 (GRCm39)	M295K	probably benign	Het
Otub2	G	T	12: 103,369,161 (GRCm39)		probably null	Het
Paxbp1	T	C	16: 90,834,303 (GRCm39)	D161G	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Per2	T	A	1: 91,361,170 (GRCm39)	Q495L	possibly damaging	Het
Plxna2	T	A	1: 194,431,724 (GRCm39)	V571E	probably damaging	Het
Prr7	C	A	13: 55,620,735 (GRCm39)	P248T	possibly damaging	Het
Ptprr	A	T	10: 116,073,169 (GRCm39)	T464S	possibly damaging	Het
Rapgef2	A	G	3: 78,993,325 (GRCm39)	V721A	probably benign	Het
Rfx1	A	T	8: 84,819,479 (GRCm39)	Y625F	probably benign	Het
Rps6kb2	G	T	19: 4,211,195 (GRCm39)	A110D	possibly damaging	Het
Setdb2	A	T	14: 59,651,141 (GRCm39)		probably benign	Het
Smpd1	T	C	7: 105,204,520 (GRCm39)	V133A	probably benign	Het
Sorl1	T	C	9: 41,925,777 (GRCm39)	D1185G	probably damaging	Het
Spag6	T	A	2: 18,750,301 (GRCm39)	L449H	probably benign	Het
Sptb	C	A	12: 76,668,036 (GRCm39)	R687L	probably benign	Het
Sptbn5	A	T	2: 119,877,616 (GRCm39)	V1012E	noncoding transcript	Het
Tmem192	A	G	8: 65,416,972 (GRCm39)	I188V	probably benign	Het
Tmem253	G	A	14: 52,256,708 (GRCm39)	V194M	probably benign	Het
Tph1	A	G	7: 46,303,173 (GRCm39)		silent	Het
Trak1	A	G	9: 121,280,733 (GRCm39)	E374G	probably damaging	Het
Trpv1	A	T	11: 73,145,593 (GRCm39)		probably null	Het
Trub2	T	C	2: 29,667,725 (GRCm39)	H305R	probably benign	Het
Ttn	A	G	2: 76,747,768 (GRCm39)	V4427A	probably benign	Het
Vasn	A	G	16: 4,466,160 (GRCm39)	T36A	probably damaging	Het
Vmn1r8	A	T	6: 57,013,158 (GRCm39)	I70F	probably benign	Het
Vps13c	A	T	9: 67,862,262 (GRCm39)	I2960L	probably damaging	Het
Zdhhc4	C	A	5: 143,307,588 (GRCm39)	M144I	probably benign	Het
Zfp273	T	A	13: 67,974,070 (GRCm39)	N399K	probably benign	Het
Zfp976	T	A	7: 42,262,125 (GRCm39)	T572S	unknown	Het
Zmym4	A	G	4: 126,798,360 (GRCm39)	C756R	probably damaging	Het

Other mutations in Slc25a31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:Slc25a31	APN	3	40,679,308 (GRCm39)	missense	probably benign	0.33
R4706:Slc25a31	UTSW	3	40,670,975 (GRCm39)	missense	probably damaging	1.00
R4801:Slc25a31	UTSW	3	40,675,975 (GRCm39)	missense	probably damaging	0.98
R4802:Slc25a31	UTSW	3	40,675,975 (GRCm39)	missense	probably damaging	0.98
R4889:Slc25a31	UTSW	3	40,675,975 (GRCm39)	missense	probably benign	0.13
R7579:Slc25a31	UTSW	3	40,679,471 (GRCm39)	missense	possibly damaging	0.92
R8125:Slc25a31	UTSW	3	40,663,573 (GRCm39)	missense	probably damaging	1.00
R9430:Slc25a31	UTSW	3	40,679,297 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCACTCCCTTGGTACAGTATTAAC -3'
(R):5'- TGTAAGAGACACTGACAGTAGTAAC -3'

Sequencing Primer
(F):5'- TTCTCAGTAACTCAACACAG -3'
(R):5'- GACACTGACAGTAGTAACACACTATC -3'

Posted On

2020-07-28