Mutagenetix > Incidental Mutation

Incidental Mutation 'R3547:Slc25a45'

268275

Institutional Source

Beutler Lab

Gene Symbol

Slc25a45

Ensembl Gene

ENSMUSG00000024818

Gene Name

solute carrier family 25, member 45

Synonyms

MMRRC Submission

040666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5927828-5935796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5934574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 181 (Y181H)

Ref Sequence

ENSEMBL: ENSMUSP00000121596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025732] [ENSMUST00000125114] [ENSMUST00000136833] [ENSMUST00000145200] [ENSMUST00000155697]

AlphaFold

Q8CFJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025732
AA Change: Y181H

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

SMART Domains

Protein: ENSMUSP00000025732
Gene: ENSMUSG00000024818
AA Change: Y181H

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	1.2e-20	PFAM
Pfam:Mito_carr	95	195	6.9e-22	PFAM
Pfam:Mito_carr	197	288	7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125114
AA Change: Y181H

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

SMART Domains

Protein: ENSMUSP00000122076
Gene: ENSMUSG00000024818
AA Change: Y181H

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	4.7e-22	PFAM
Pfam:Mito_carr	95	195	3.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136833

SMART Domains

Protein: ENSMUSP00000121602
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	102	2.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141362

SMART Domains

Protein: ENSMUSP00000114648
Gene: ENSMUSG00000024818

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	70	3.1e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000145200
AA Change: Y123H

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

SMART Domains

Protein: ENSMUSP00000117220
Gene: ENSMUSG00000024818
AA Change: Y123H

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Mito_carr	37	137	5.1e-23	PFAM
Pfam:Mito_carr	139	195	4.1e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155697
AA Change: Y181H

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

SMART Domains

Protein: ENSMUSP00000121596
Gene: ENSMUSG00000024818
AA Change: Y181H

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	87	8.9e-22	PFAM
Pfam:Mito_carr	95	195	6.8e-23	PFAM
Pfam:Mito_carr	197	288	2.4e-23	PFAM

Meta Mutation Damage Score

0.8076

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A45 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg5	A	G	3: 54,656,736 (GRCm39)	R316G	probably benign	Het
Anapc1	T	C	2: 128,484,602 (GRCm39)	N1121D	possibly damaging	Het
Antxr2	A	T	5: 98,125,516 (GRCm39)	I247N	probably benign	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl9	A	G	5: 77,158,326 (GRCm39)	D136G	probably benign	Het
Atxn1l	A	G	8: 110,458,981 (GRCm39)	L427P	possibly damaging	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Clec4a3	A	G	6: 122,941,239 (GRCm39)	E78G	probably damaging	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Col12a1	T	G	9: 79,540,698 (GRCm39)	K2429T	probably damaging	Het
Col20a1	G	T	2: 180,636,704 (GRCm39)	E228D	probably damaging	Het
Cx3cl1	A	C	8: 95,504,752 (GRCm39)	E56A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Gdi1	T	A	X: 73,351,414 (GRCm39)	F175L	possibly damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Gpr149	A	T	3: 62,502,549 (GRCm39)	C436S	probably benign	Het
Grid2	T	C	6: 64,297,005 (GRCm39)	V456A	probably damaging	Het
Gstcd	G	T	3: 132,790,599 (GRCm39)	T56K	possibly damaging	Het
Hydin	G	A	8: 111,308,699 (GRCm39)	G3995D	possibly damaging	Het
Igkv4-50	G	A	6: 69,677,765 (GRCm39)	T113I	probably benign	Het
Igkv5-43	A	G	6: 69,753,240 (GRCm39)		probably benign	Het
Igsf10	G	A	3: 59,237,962 (GRCm39)	H740Y	probably benign	Het
Igsf10	C	A	3: 59,243,935 (GRCm39)	R133L	probably damaging	Het
Lcmt1	A	G	7: 122,999,702 (GRCm39)	E94G	probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Ly6m	C	A	15: 74,753,463 (GRCm39)	A18S	probably null	Het
Map3k3	C	T	11: 106,033,379 (GRCm39)	Q211*	probably null	Het
Map4	T	A	9: 109,881,266 (GRCm39)	F43L	possibly damaging	Het
Mcf2	T	C	X: 59,180,806 (GRCm39)	K74R	probably damaging	Het
Mylk	G	A	16: 34,700,538 (GRCm39)	V460I	possibly damaging	Het
Nat1	A	G	8: 67,943,684 (GRCm39)	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Ncf1	T	A	5: 134,255,463 (GRCm39)	K143*	probably null	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or52b3	A	G	7: 102,203,677 (GRCm39)	Y62C	probably damaging	Het
Pi4k2a	C	T	19: 42,078,987 (GRCm39)	P16L	probably benign	Het
Pitx3	T	A	19: 46,124,548 (GRCm39)	Q273L	possibly damaging	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Prickle2	T	C	6: 92,388,118 (GRCm39)	Y428C	probably damaging	Het
Prkcq	A	G	2: 11,288,627 (GRCm39)	K527E	probably benign	Het
Prune2	T	A	19: 17,101,712 (GRCm39)	S2405R	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rnf167	T	C	11: 70,540,507 (GRCm39)	I129T	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfxn2	T	C	19: 46,578,635 (GRCm39)	S217P	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Slc22a17	A	G	14: 55,144,694 (GRCm39)	L573P	probably damaging	Het
Slc6a20a	A	G	9: 123,489,567 (GRCm39)	S159P	probably damaging	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,217,438 (GRCm39)	D397E	probably benign	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ube4b	T	C	4: 149,419,573 (GRCm39)	D1045G	probably damaging	Het
Ugt8a	A	T	3: 125,661,031 (GRCm39)	L487*	probably null	Het
Uprt	T	A	X: 103,526,934 (GRCm39)	L123H	probably damaging	Het
Usp9x	T	C	X: 12,994,629 (GRCm39)	L940P	probably benign	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Uty	A	C	Y: 1,158,512 (GRCm39)	D463E	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het
Vps13d	T	G	4: 144,801,545 (GRCm39)	T3558P	probably damaging	Het
Zfp319	A	G	8: 96,055,445 (GRCm39)	S253P	probably damaging	Het
Zfp831	A	G	2: 174,499,476 (GRCm39)	S1265G	probably benign	Het

Other mutations in Slc25a45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Slc25a45	APN	19	5,934,637 (GRCm39)	splice site	probably null
IGL02620:Slc25a45	APN	19	5,934,554 (GRCm39)	missense	probably damaging	1.00
IGL02622:Slc25a45	APN	19	5,928,725 (GRCm39)	splice site	probably benign
R0055:Slc25a45	UTSW	19	5,930,495 (GRCm39)	missense	probably damaging	1.00
R0055:Slc25a45	UTSW	19	5,930,495 (GRCm39)	missense	probably damaging	1.00
R0630:Slc25a45	UTSW	19	5,930,556 (GRCm39)	missense	probably damaging	1.00
R1464:Slc25a45	UTSW	19	5,929,928 (GRCm39)	splice site	probably benign
R1764:Slc25a45	UTSW	19	5,934,958 (GRCm39)	missense	probably damaging	1.00
R1902:Slc25a45	UTSW	19	5,934,550 (GRCm39)	missense	probably damaging	1.00
R2372:Slc25a45	UTSW	19	5,934,580 (GRCm39)	missense	probably benign	0.00
R3889:Slc25a45	UTSW	19	5,930,661 (GRCm39)	splice site	probably benign
R4173:Slc25a45	UTSW	19	5,930,611 (GRCm39)	nonsense	probably null
R4222:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4223:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4225:Slc25a45	UTSW	19	5,930,146 (GRCm39)	missense	probably damaging	1.00
R4598:Slc25a45	UTSW	19	5,934,464 (GRCm39)	missense	probably damaging	1.00
R4998:Slc25a45	UTSW	19	5,934,945 (GRCm39)	missense	probably damaging	1.00
R5063:Slc25a45	UTSW	19	5,934,490 (GRCm39)	missense	possibly damaging	0.89
R5711:Slc25a45	UTSW	19	5,934,451 (GRCm39)	missense	probably benign
R6693:Slc25a45	UTSW	19	5,930,162 (GRCm39)	missense	possibly damaging	0.63
R7486:Slc25a45	UTSW	19	5,934,997 (GRCm39)	missense	probably damaging	0.96
R8437:Slc25a45	UTSW	19	5,930,135 (GRCm39)	missense	probably benign	0.06
R9415:Slc25a45	UTSW	19	5,934,967 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc25a45	UTSW	19	5,934,460 (GRCm39)	missense	probably damaging	0.99
Z1177:Slc25a45	UTSW	19	5,930,207 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACCTCATCAAAGTCCGTC -3'
(R):5'- AAGGAGTGGCTGTGATCCAG -3'

Sequencing Primer
(F):5'- GTCCGTCTACAAAACCAGACAGAG -3'
(R):5'- ACCAGAACTGTGGCTGAACCTG -3'

Posted On

2015-02-19