Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Slc25a42'

545020

Institutional Source

Beutler Lab

Gene Symbol

Slc25a42

Ensembl Gene

ENSMUSG00000002346

Gene Name

solute carrier family 25, member 42

Synonyms

2900084M01Rik

MMRRC Submission

045112-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70636990-70664931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70639352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 242 (S242P)

Ref Sequence

ENSEMBL: ENSMUSP00000105754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002413] [ENSMUST00000063788] [ENSMUST00000110127] [ENSMUST00000147656] [ENSMUST00000149105] [ENSMUST00000182715] [ENSMUST00000182980]

AlphaFold

Q8R0Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000002413

SMART Domains

Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	478	6.8e-182	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063788
AA Change: S242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
AA Change: S242P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	29	122	3.4e-23	PFAM
Pfam:Mito_carr	127	219	1.4e-26	PFAM
Pfam:Mito_carr	222	316	3.8e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110127
AA Change: S242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
AA Change: S242P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	29	122	1.6e-23	PFAM
Pfam:Mito_carr	127	219	7.2e-27	PFAM
Pfam:Mito_carr	222	317	3.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147656

SMART Domains

Protein: ENSMUSP00000138017
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	270	4.6e-122	PFAM
low complexity region	283	296	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149105

SMART Domains

Protein: ENSMUSP00000123084
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	1	95	5.1e-41	PFAM
Pfam:Tmemb_161AB	93	454	9.5e-148	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182715

SMART Domains

Protein: ENSMUSP00000138432
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	2	45	3.3e-15	PFAM
low complexity region	152	165	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182980

SMART Domains

Protein: ENSMUSP00000138499
Gene: ENSMUSG00000002342

Domain	Start	End	E-Value	Type
Pfam:Tmemb_161AB	1	328	4.6e-133	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Apbb1ip	A	T	2: 22,725,943 (GRCm39)	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Htr1d	T	C	4: 136,170,317 (GRCm39)	M182T	probably benign	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,649,825 (GRCm39)	C47R	probably damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Smurf2	A	G	11: 106,724,610 (GRCm39)	L511P	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,770,969 (GRCm39)	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,187,186 (GRCm39)	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	Het

Other mutations in Slc25a42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Slc25a42	APN	8	70,642,092 (GRCm39)	missense	probably benign
IGL01651:Slc25a42	APN	8	70,639,250 (GRCm39)	missense	possibly damaging	0.92
R0892:Slc25a42	UTSW	8	70,644,597 (GRCm39)	missense	probably damaging	0.97
R1990:Slc25a42	UTSW	8	70,644,519 (GRCm39)	missense	probably benign	0.41
R4567:Slc25a42	UTSW	8	70,641,504 (GRCm39)	missense	probably damaging	0.99
R4717:Slc25a42	UTSW	8	70,642,107 (GRCm39)	missense	probably damaging	1.00
R6795:Slc25a42	UTSW	8	70,641,040 (GRCm39)	missense	probably damaging	1.00
R6927:Slc25a42	UTSW	8	70,641,573 (GRCm39)	missense	probably damaging	0.96
R7220:Slc25a42	UTSW	8	70,642,148 (GRCm39)	missense	probably damaging	1.00
R8901:Slc25a42	UTSW	8	70,646,799 (GRCm39)	missense	probably benign
R9234:Slc25a42	UTSW	8	70,642,736 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGGTGAAGCTGATCCCC -3'
(R):5'- AAGTCTCACTGCTGCAAAGTG -3'

Sequencing Primer
(F):5'- TGATCCCCACGGCAATTG -3'
(R):5'- AGGCTAGGATGTGGGTCCC -3'

Posted On

2019-05-13