Mutagenetix > Incidental Mutation

Incidental Mutation 'R1439:Slc25a36'

160854

Institutional Source

Beutler Lab

Gene Symbol

Slc25a36

Ensembl Gene

ENSMUSG00000032449

Gene Name

solute carrier family 25, member 36

Synonyms

C330005L02Rik

MMRRC Submission

039494-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R1439 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96957014-96993094 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 96975126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085206] [ENSMUST00000124250] [ENSMUST00000153070]

AlphaFold

Q922G0

Predicted Effect

probably benign
Transcript: ENSMUST00000085206

SMART Domains

Protein: ENSMUSP00000082302
Gene: ENSMUSG00000032449

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	113	9.5e-27	PFAM
Pfam:Mito_carr	114	207	2.5e-23	PFAM
Pfam:Mito_carr	222	311	6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124250

SMART Domains

Protein: ENSMUSP00000119696
Gene: ENSMUSG00000032449

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	93	3.6e-23	PFAM
low complexity region	102	115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148337

Predicted Effect

probably benign
Transcript: ENSMUST00000153070

SMART Domains

Protein: ENSMUSP00000116813
Gene: ENSMUSG00000032449

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	2	113	5.8e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155291

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,770,908 (GRCm39)	N499S	probably damaging	Het
AI661453	C	A	17: 47,777,587 (GRCm39)		probably benign	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Alkbh1	A	G	12: 87,475,915 (GRCm39)	V289A	probably damaging	Het
Bnc2	C	T	4: 84,194,305 (GRCm39)	E1035K	probably benign	Het
C1s2	T	A	6: 124,607,126 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,492,640 (GRCm39)	I1885T	probably damaging	Het
Col22a1	A	G	15: 71,824,226 (GRCm39)		probably benign	Het
Cpne4	A	T	9: 104,866,831 (GRCm39)	T248S	probably damaging	Het
Cracd	T	C	5: 76,988,757 (GRCm39)	V36A	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Ddx10	T	A	9: 53,151,787 (GRCm39)	K79N	probably damaging	Het
Dennd1a	A	C	2: 37,933,412 (GRCm39)	L131R	probably damaging	Het
Dnah9	T	C	11: 65,764,958 (GRCm39)	Y3862C	probably benign	Het
Eif3e	A	G	15: 43,141,824 (GRCm39)		probably benign	Het
Emsy	T	C	7: 98,250,048 (GRCm39)		probably benign	Het
Ep400	A	T	5: 110,833,344 (GRCm39)	D1959E	unknown	Het
Fpr-rs7	A	G	17: 20,333,869 (GRCm39)	I207T	probably benign	Het
Fubp3	C	A	2: 31,488,563 (GRCm39)	L140I	probably damaging	Het
Gas2l2	T	C	11: 83,318,298 (GRCm39)	D137G	probably damaging	Het
Git1	G	T	11: 77,397,244 (GRCm39)	R699L	possibly damaging	Het
Gnao1	T	A	8: 94,690,065 (GRCm39)	F27L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga6	T	G	2: 71,664,378 (GRCm39)	Y505D	probably damaging	Het
Itgad	A	T	7: 127,782,178 (GRCm39)	T205S	probably benign	Het
Jakmip3	A	T	7: 138,631,375 (GRCm39)	Y574F	probably benign	Het
Laptm5	G	T	4: 130,653,520 (GRCm39)		probably benign	Het
Mlana	A	T	19: 29,684,252 (GRCm39)	R71S	probably benign	Het
Mroh2a	G	C	1: 88,185,524 (GRCm39)	E1510D	probably damaging	Het
Mus81	G	C	19: 5,535,145 (GRCm39)	R295G	probably benign	Het
Ncapd3	T	A	9: 26,998,862 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,703,396 (GRCm39)	E218G	possibly damaging	Het
Nectin3	A	T	16: 46,268,757 (GRCm39)	Y548*	probably null	Het
Nif3l1	T	C	1: 58,487,102 (GRCm39)	F96S	probably damaging	Het
Ntrk1	A	G	3: 87,696,918 (GRCm39)		probably null	Het
Obsl1	C	A	1: 75,463,428 (GRCm39)	E1755*	probably null	Het
Or4p23	T	C	2: 88,577,178 (GRCm39)	E18G	possibly damaging	Het
Osbpl9	T	C	4: 108,958,353 (GRCm39)	D74G	probably damaging	Het
Osgin1	T	A	8: 120,169,852 (GRCm39)		probably null	Het
Otogl	A	G	10: 107,615,113 (GRCm39)	Y1931H	probably benign	Het
Pmepa1	A	G	2: 173,069,874 (GRCm39)	I227T	probably benign	Het
Pprc1	T	A	19: 46,052,175 (GRCm39)	N564K	possibly damaging	Het
Prkaa1	T	C	15: 5,194,225 (GRCm39)	F92S	probably damaging	Het
Ptprd	A	G	4: 75,984,437 (GRCm39)	F811L	probably damaging	Het
Rad54b	A	G	4: 11,606,152 (GRCm39)	K520R	possibly damaging	Het
Rbfox1	A	G	16: 7,148,297 (GRCm39)	T269A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,920 (GRCm39)	Y554C	probably damaging	Het
Rfx2	A	T	17: 57,094,720 (GRCm39)	V208E	probably damaging	Het
Rgs22	G	T	15: 36,025,939 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,797,032 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,729,389 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,522,523 (GRCm39)		probably benign	Het
Secisbp2	T	C	13: 51,833,759 (GRCm39)		probably benign	Het
Sgsm2	C	A	11: 74,759,964 (GRCm39)	R58L	probably benign	Het
Spink4	A	G	4: 40,929,121 (GRCm39)	T49A	possibly damaging	Het
Steap3	A	T	1: 120,155,550 (GRCm39)	F470I	probably damaging	Het
Stk10	A	G	11: 32,567,919 (GRCm39)	Q907R	probably damaging	Het
Tdrd5	A	G	1: 156,105,057 (GRCm39)	V446A	probably damaging	Het
Tmem117	G	A	15: 94,992,478 (GRCm39)	M379I	probably benign	Het
Trappc12	A	G	12: 28,797,160 (GRCm39)	L124P	possibly damaging	Het
Trim9	G	A	12: 70,297,867 (GRCm39)	H613Y	probably damaging	Het
Trio	A	G	15: 27,898,000 (GRCm39)	W371R	probably damaging	Het
Ulk4	G	C	9: 121,095,324 (GRCm39)	H110D	possibly damaging	Het
Upb1	T	C	10: 75,275,776 (GRCm39)	V387A	probably benign	Het
Utrn	A	T	10: 12,619,793 (GRCm39)	I284N	possibly damaging	Het
Vmn2r111	C	A	17: 22,790,097 (GRCm39)	W303L	probably benign	Het
Vmn2r15	G	T	5: 109,441,953 (GRCm39)	P160Q	probably damaging	Het
Wdtc1	A	G	4: 133,029,118 (GRCm39)	S323P	probably benign	Het
Zfp846	T	A	9: 20,505,393 (GRCm39)	C418S	possibly damaging	Het
Zfyve26	G	T	12: 79,298,937 (GRCm39)	P441Q	probably benign	Het

Other mutations in Slc25a36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01552:Slc25a36	APN	9	96,961,286 (GRCm39)	missense	probably benign	0.01
IGL01634:Slc25a36	APN	9	96,962,534 (GRCm39)	missense	probably benign	0.00
IGL02149:Slc25a36	APN	9	96,975,122 (GRCm39)	splice site	probably benign
R0394:Slc25a36	UTSW	9	96,962,257 (GRCm39)	missense	probably benign	0.36
R0518:Slc25a36	UTSW	9	96,979,228 (GRCm39)	missense	probably damaging	1.00
R1024:Slc25a36	UTSW	9	96,961,254 (GRCm39)	missense	probably damaging	1.00
R1208:Slc25a36	UTSW	9	96,967,188 (GRCm39)	splice site	probably benign
R1466:Slc25a36	UTSW	9	96,962,408 (GRCm39)	missense	probably damaging	1.00
R1466:Slc25a36	UTSW	9	96,962,408 (GRCm39)	missense	probably damaging	1.00
R1920:Slc25a36	UTSW	9	96,975,135 (GRCm39)	missense	probably benign	0.00
R2247:Slc25a36	UTSW	9	96,982,191 (GRCm39)	missense	probably damaging	1.00
R2317:Slc25a36	UTSW	9	96,961,235 (GRCm39)	missense	probably damaging	1.00
R2518:Slc25a36	UTSW	9	96,961,124 (GRCm39)	missense	possibly damaging	0.95
R3756:Slc25a36	UTSW	9	96,982,208 (GRCm39)	nonsense	probably null
R4405:Slc25a36	UTSW	9	96,967,171 (GRCm39)	missense	probably benign	0.00
R4624:Slc25a36	UTSW	9	96,961,178 (GRCm39)	missense	probably damaging	0.99
R4719:Slc25a36	UTSW	9	96,972,172 (GRCm39)	utr 3 prime	probably benign
R5492:Slc25a36	UTSW	9	96,982,259 (GRCm39)	missense	probably damaging	1.00
R6152:Slc25a36	UTSW	9	96,982,210 (GRCm39)	missense	probably damaging	1.00
R7823:Slc25a36	UTSW	9	96,966,444 (GRCm39)	critical splice donor site	probably null
R8139:Slc25a36	UTSW	9	96,962,505 (GRCm39)	missense	probably benign
R8925:Slc25a36	UTSW	9	96,982,126 (GRCm39)	critical splice donor site	probably null
R8927:Slc25a36	UTSW	9	96,982,126 (GRCm39)	critical splice donor site	probably null
R8984:Slc25a36	UTSW	9	96,961,259 (GRCm39)	missense	probably benign	0.36
R9280:Slc25a36	UTSW	9	96,982,233 (GRCm39)	missense	probably damaging	1.00
R9485:Slc25a36	UTSW	9	96,962,522 (GRCm39)	missense	probably benign
R9631:Slc25a36	UTSW	9	96,982,153 (GRCm39)	missense	probably benign	0.00
R9712:Slc25a36	UTSW	9	96,961,230 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAACAAGTGGCAGCTCTAACTCCAG -3'
(R):5'- CACGGCTTAGGTGATCTGAGAATGG -3'

Sequencing Primer
(F):5'- CTCTAACTCCAGTAGAGGTATGGC -3'
(R):5'- TGCTGCTTATTCAAACTGCAA -3'

Posted On

2014-03-14