Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4810001:Slc25a41'

556881

Institutional Source

Beutler Lab

Gene Symbol

Slc25a41

Ensembl Gene

ENSMUSG00000011486

Gene Name

solute carrier family 25, member 41

Synonyms

4933406J04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

PIT4810001 (G1)

Quality Score

203.009

Status

Not validated

Chromosome

Chromosomal Location

57339773-57348654 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57346933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 20 (V20A)

Ref Sequence

ENSEMBL: ENSMUSP00000058877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000058661] [ENSMUST00000169012]

AlphaFold

Q8BVN7

Predicted Effect

probably benign
Transcript: ENSMUST00000040280

SMART Domains

Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329

Domain	Start	End	E-Value	Type
EFh	13	41	2.72e-3	SMART
EFh	80	108	1.09e0	SMART
EFh	116	144	3.07e1	SMART
Pfam:Mito_carr	181	273	3.8e-25	PFAM
Pfam:Mito_carr	274	366	4.1e-26	PFAM
Pfam:Mito_carr	372	465	6.5e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058661
AA Change: V20A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058877
Gene: ENSMUSG00000011486
AA Change: V20A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	25	118	4.5e-22	PFAM
Pfam:Mito_carr	119	210	7.8e-21	PFAM
Pfam:Mito_carr	215	308	2.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169012
AA Change: V6A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130857
Gene: ENSMUSG00000011486
AA Change: V6A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	11	104	3.7e-24	PFAM
Pfam:Mito_carr	105	197	3.5e-22	PFAM
Pfam:Mito_carr	201	294	4e-19	PFAM

Coding Region Coverage

1x: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,822 (GRCm39)	S105P	probably damaging	Het
Adtrp	C	T	13: 41,981,724 (GRCm39)	W48*	probably null	Het
Agxt2	A	T	15: 10,399,151 (GRCm39)	M413L	probably benign	Het
Ahnak2	T	A	12: 112,749,214 (GRCm39)	D211V		Het
Aplnr	T	A	2: 84,967,628 (GRCm39)	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,901,162 (GRCm39)	E189V	probably damaging	Het
Atp10a	T	C	7: 58,463,596 (GRCm39)	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,133,382 (GRCm39)	C468Y	probably damaging	Het
Cars2	A	T	8: 11,564,699 (GRCm39)	C459S	probably benign	Het
Ccr3	T	A	9: 123,829,645 (GRCm39)	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,171,400 (GRCm39)	I355F	probably damaging	Het
Celsr3	T	C	9: 108,722,932 (GRCm39)	L2773P	probably damaging	Het
Ces2g	A	T	8: 105,691,521 (GRCm39)	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,671,444 (GRCm39)	F121L	probably damaging	Het
Champ1	G	A	8: 13,929,234 (GRCm39)	S464N	probably benign	Het
Clasp2	T	A	9: 113,735,135 (GRCm39)	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,706,516 (GRCm39)	L2806Q	unknown	Het
Cpz	T	C	5: 35,665,536 (GRCm39)	E435G	possibly damaging	Het
Crbn	T	A	6: 106,761,440 (GRCm39)	R233*	probably null	Het
Ctc1	C	T	11: 68,913,352 (GRCm39)	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,743,574 (GRCm39)	S314P	possibly damaging	Het
Dmxl1	A	G	18: 50,065,030 (GRCm39)	E2625G	probably damaging	Het
Dock7	T	A	4: 98,833,796 (GRCm39)	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,823,122 (GRCm39)	L174*	probably null	Het
Etnppl	A	G	3: 130,414,363 (GRCm39)	D86G	probably benign	Het
Fbxw18	C	A	9: 109,505,958 (GRCm39)	E438*	probably null	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Gpr155	A	C	2: 73,178,607 (GRCm39)	L727R	probably benign	Het
Gpr158	C	G	2: 21,831,682 (GRCm39)	D927E	probably benign	Het
Igsf10	T	C	3: 59,225,903 (GRCm39)	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,328,348 (GRCm39)	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,647,473 (GRCm39)	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,801,308 (GRCm39)	S553T	probably damaging	Het
Klhl14	G	T	18: 21,690,880 (GRCm39)	Y523*	probably null	Het
Krtap14	A	G	16: 88,622,515 (GRCm39)	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273 (GRCm38)	V111A	probably benign	Het
Maml2	A	G	9: 13,531,320 (GRCm39)	N178S		Het
Megf8	G	A	7: 25,041,710 (GRCm39)	C1208Y	probably damaging	Het
Mocos	A	G	18: 24,819,759 (GRCm39)	D667G	probably damaging	Het
Nid2	A	G	14: 19,860,158 (GRCm39)	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,007,106 (GRCm39)	E1357G	probably damaging	Het
Or2d2	A	T	7: 106,727,766 (GRCm39)	M278K	probably benign	Het
Or4a2	A	T	2: 89,248,297 (GRCm39)	H153Q	probably damaging	Het
Or9s15	T	A	1: 92,524,876 (GRCm39)	F212I	probably benign	Het
Pign	A	G	1: 105,525,487 (GRCm39)	V447A	possibly damaging	Het
Pomp	T	C	5: 147,806,229 (GRCm39)	L57P	probably benign	Het
Pou2af2	C	T	9: 51,202,992 (GRCm39)	G54D	possibly damaging	Het
Rbms3	T	A	9: 116,885,861 (GRCm39)	Y128F	probably damaging	Het
Slc12a4	A	G	8: 106,678,228 (GRCm39)	F322L	probably benign	Het
Slc16a9	T	A	10: 70,119,762 (GRCm39)	C468*	probably null	Het
Slc22a18	A	G	7: 143,046,668 (GRCm39)	I271V	probably benign	Het
Smim7	A	T	8: 73,324,857 (GRCm39)	L6Q	probably damaging	Het
Snx29	T	C	16: 11,218,845 (GRCm39)	V227A	probably damaging	Het
Sowaha	A	T	11: 53,369,290 (GRCm39)	L482Q	probably damaging	Het
Srp19	A	G	18: 34,467,523 (GRCm39)	Y68C	probably damaging	Het
Tecr	A	G	8: 84,298,884 (GRCm39)	S298P	probably damaging	Het
Terb2	T	A	2: 122,035,379 (GRCm39)	I200N	probably damaging	Het
Togaram1	G	A	12: 65,030,286 (GRCm39)	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,329,193 (GRCm39)	M68V	probably benign	Het
Tshz1	A	C	18: 84,031,375 (GRCm39)	L1011R	possibly damaging	Het
Tubb3	A	G	8: 124,148,396 (GRCm39)	E443G	possibly damaging	Het
Uba5	A	T	9: 103,932,396 (GRCm39)	I189K	probably damaging	Het
Vasn	A	G	16: 4,467,909 (GRCm39)	T619A	probably benign	Het
Wbp1l	A	G	19: 46,642,761 (GRCm39)	D254G	probably benign	Het
Zzef1	T	C	11: 72,741,571 (GRCm39)	F738L	probably damaging	Het

Other mutations in Slc25a41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Slc25a41	APN	17	57,341,957 (GRCm39)	splice site	probably null
R1730:Slc25a41	UTSW	17	57,346,921 (GRCm39)	missense	probably benign
R6127:Slc25a41	UTSW	17	57,341,914 (GRCm39)	missense	probably damaging	1.00
R7549:Slc25a41	UTSW	17	57,340,791 (GRCm39)	missense	probably damaging	1.00
R8472:Slc25a41	UTSW	17	57,348,582 (GRCm39)	missense	probably benign	0.10
R9258:Slc25a41	UTSW	17	57,348,580 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GTCCATCCTGAGTTCCATCAAC -3'
(R):5'- GAGCTACAAAGTGAGACCCTG -3'

Sequencing Primer
(F):5'- AGTTCCATCAACTCTGTCTTTACTG -3'
(R):5'- GTGAGACCCTGCCACAAAAC -3'

Posted On

2019-06-07