Mutagenetix > Incidental Mutation

Incidental Mutation 'R6719:Slc25a18'

529494

Institutional Source

Beutler Lab

Gene Symbol

Slc25a18

Ensembl Gene

ENSMUSG00000004902

Gene Name

solute carrier family 25 (mitochondrial carrier), member 18

Synonyms

1500015I14Rik

MMRRC Submission

044837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6719 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120750539-120771297 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120765215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 92 (D92G)

Ref Sequence

ENSEMBL: ENSMUSP00000108302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112682]

AlphaFold

Q9DB41

Predicted Effect

probably damaging
Transcript: ENSMUST00000112682
AA Change: D92G

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

SMART Domains

Protein: ENSMUSP00000108302
Gene: ENSMUSG00000004902
AA Change: D92G

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	9	102	6.8e-27	PFAM
Pfam:Mito_carr	104	218	1.2e-17	PFAM
Pfam:Mito_carr	222	310	7.9e-20	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	C	19: 42,041,151 (GRCm39)	I94T	possibly damaging	Het
Afp	T	A	5: 90,651,562 (GRCm39)	N392K	probably benign	Het
Asrgl1	C	T	19: 9,090,512 (GRCm39)	G278D	probably damaging	Het
Atp2c1	T	C	9: 105,301,377 (GRCm39)	I611V	probably damaging	Het
Avl9	A	G	6: 56,730,370 (GRCm39)	Y571C	probably damaging	Het
Clrn1	A	T	3: 58,753,861 (GRCm39)	C167S	probably damaging	Het
Ctsr	C	T	13: 61,308,265 (GRCm39)	G293D	possibly damaging	Het
Dmbt1	T	A	7: 130,721,332 (GRCm39)	S1867T	possibly damaging	Het
Dock9	A	T	14: 121,847,439 (GRCm39)	I1025N	probably damaging	Het
Dppa4	G	A	16: 48,108,247 (GRCm39)	A11T	probably damaging	Het
Duox2	T	A	2: 122,114,867 (GRCm39)		probably null	Het
Fat3	A	G	9: 15,907,440 (GRCm39)	L2854P	probably benign	Het
Fcer1a	A	G	1: 173,050,340 (GRCm39)	S61P	possibly damaging	Het
Fyb2	A	T	4: 104,867,656 (GRCm39)	D669V	probably benign	Het
Herc2	G	T	7: 55,862,574 (GRCm39)	C4081F	probably damaging	Het
Hexim1	T	C	11: 103,008,091 (GRCm39)	L115P	probably benign	Het
Kat2a	T	G	11: 100,602,967 (GRCm39)	Q88H	probably benign	Het
Lrriq1	T	C	10: 102,906,977 (GRCm39)	Y1581C	probably damaging	Het
Ltbp4	T	G	7: 27,028,188 (GRCm39)	D323A	probably damaging	Het
Mark3	T	A	12: 111,581,876 (GRCm39)	I115K	probably damaging	Het
Nudt9	A	G	5: 104,209,562 (GRCm39)	D271G	probably damaging	Het
Or2a54	T	A	6: 43,092,907 (GRCm39)	V77D	probably damaging	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pcdha5	T	C	18: 37,093,925 (GRCm39)	S145P	probably damaging	Het
Pzp	T	C	6: 128,501,046 (GRCm39)	E104G	probably benign	Het
Rho	T	C	6: 115,910,854 (GRCm39)	I133T	possibly damaging	Het
Sall3	G	T	18: 81,014,721 (GRCm39)	T997K	probably damaging	Het
Scn8a	A	T	15: 100,908,896 (GRCm39)		probably null	Het
Sfxn1	T	A	13: 54,260,583 (GRCm39)	H310Q	probably benign	Het
Slc26a9	T	C	1: 131,689,523 (GRCm39)	I490T	probably benign	Het
Terf1	T	C	1: 15,908,460 (GRCm39)	V351A	probably benign	Het
Thsd7b	A	G	1: 130,087,451 (GRCm39)		probably null	Het
Trgj2	A	G	13: 19,495,426 (GRCm39)		probably benign	Het
Tti1	A	T	2: 157,824,220 (GRCm39)	C1078S	probably benign	Het
Ttll3	A	G	6: 113,375,993 (GRCm39)		probably benign	Het
Tubb1	A	C	2: 174,299,187 (GRCm39)	T290P	probably damaging	Het
Ugt2b35	G	T	5: 87,155,247 (GRCm39)	D361Y	probably damaging	Het
Zc2hc1c	T	C	12: 85,337,446 (GRCm39)	S368P	probably damaging	Het

Other mutations in Slc25a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02054:Slc25a18	APN	6	120,769,358 (GRCm39)	splice site	probably null
R1066:Slc25a18	UTSW	6	120,765,249 (GRCm39)	splice site	probably null
R1618:Slc25a18	UTSW	6	120,763,303 (GRCm39)	splice site	probably benign
R2220:Slc25a18	UTSW	6	120,770,518 (GRCm39)	splice site	probably null
R4715:Slc25a18	UTSW	6	120,763,051 (GRCm39)	missense	probably damaging	1.00
R5786:Slc25a18	UTSW	6	120,769,035 (GRCm39)	missense	probably damaging	0.99
R5873:Slc25a18	UTSW	6	120,763,242 (GRCm39)	critical splice acceptor site	probably null
R6103:Slc25a18	UTSW	6	120,766,399 (GRCm39)	missense	probably damaging	1.00
R8032:Slc25a18	UTSW	6	120,769,452 (GRCm39)	missense	probably damaging	1.00
R9072:Slc25a18	UTSW	6	120,769,022 (GRCm39)	missense	probably benign	0.05
R9723:Slc25a18	UTSW	6	120,770,489 (GRCm39)	missense	probably benign	0.06
Z1176:Slc25a18	UTSW	6	120,766,326 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTCATGCTGGACCGTGTAC -3'
(R):5'- TGAATATACAGTCTCTCCCCGC -3'

Sequencing Primer
(F):5'- TCATGCTGGACCGTGTACTAAGAC -3'
(R):5'- AATATACAGTCTCTCCCCGCTTACAC -3'

Posted On

2018-08-01