Mutagenetix > Incidental Mutation

Incidental Mutation 'R1920:Slc25a36'

212959

Institutional Source

Beutler Lab

Gene Symbol

Slc25a36

Ensembl Gene

ENSMUSG00000032449

Gene Name

solute carrier family 25, member 36

Synonyms

C330005L02Rik

MMRRC Submission

039938-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

R1920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96957014-96993094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96975135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 127 (M127K)

Ref Sequence

ENSEMBL: ENSMUSP00000082302 (fasta)

Gene Model

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

AlphaFold

Q922G0

Predicted Effect

probably benign
Transcript: ENSMUST00000085206
AA Change: M127K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000082302
Gene: ENSMUSG00000032449
AA Change: M127K

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

unknown
Transcript: ENSMUST00000124250
AA Change: M107K

SMART Domains

Protein: ENSMUSP00000119696
Gene: ENSMUSG00000032449
AA Change: M107K

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
AA Change: M127K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116813
Gene: ENSMUSG00000032449
AA Change: M127K

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

0.1196

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

Validation Efficiency

98% (101/103)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,828 (GRCm39)	V77A	probably benign	Het
Actl7a	G	A	4: 56,744,135 (GRCm39)	V221M	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgef10	C	T	8: 15,006,987 (GRCm39)		probably benign	Het
Asgr2	T	C	11: 69,989,123 (GRCm39)	L86P	possibly damaging	Het
Atp12a	A	G	14: 56,624,308 (GRCm39)	R919G	probably benign	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
B3gnt5	T	G	16: 19,588,294 (GRCm39)	L171R	probably benign	Het
Bbof1	T	A	12: 84,457,859 (GRCm39)	N41K	possibly damaging	Het
Bdp1	A	T	13: 100,235,097 (GRCm39)	W166R	probably benign	Het
Bean1	A	T	8: 104,937,742 (GRCm39)	H107L	possibly damaging	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cep78	G	A	19: 15,951,715 (GRCm39)		probably benign	Het
Cfap70	C	T	14: 20,445,020 (GRCm39)	A1087T	probably damaging	Het
Cideb	A	G	14: 55,992,700 (GRCm39)	V72A	probably benign	Het
Cpz	T	C	5: 35,675,012 (GRCm39)	E79G	probably damaging	Het
Crybg1	A	G	10: 43,873,544 (GRCm39)	L1188P	probably damaging	Het
Cuzd1	G	A	7: 130,911,425 (GRCm39)	P518L	probably benign	Het
Cyp2j5	A	T	4: 96,551,491 (GRCm39)	N77K	probably damaging	Het
Cyp4f39	T	G	17: 32,702,265 (GRCm39)	F254C	probably benign	Het
Dkk1	C	A	19: 30,524,731 (GRCm39)	V225L	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dll3	T	C	7: 27,998,348 (GRCm39)	T206A	probably benign	Het
Dnhd1	T	C	7: 105,362,614 (GRCm39)	C3766R	probably benign	Het
Dock9	G	T	14: 121,820,792 (GRCm39)	S1534Y	probably damaging	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
F2r	A	G	13: 95,740,698 (GRCm39)	F279S	probably damaging	Het
Farp1	C	A	14: 121,492,908 (GRCm39)	N503K	probably benign	Het
Fbxw2	G	A	2: 34,712,776 (GRCm39)	T95I	probably damaging	Het
Fis1	A	G	5: 136,994,461 (GRCm39)	T50A	probably benign	Het
Frzb	T	G	2: 80,276,772 (GRCm39)	E138A	probably damaging	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Fyco1	C	T	9: 123,659,478 (GRCm39)	D233N	probably damaging	Het
Gmpr	A	G	13: 45,667,997 (GRCm39)		probably benign	Het
Hc	C	T	2: 34,919,407 (GRCm39)		probably benign	Het
Hnrnpa1	T	C	15: 103,150,699 (GRCm39)	M186T	possibly damaging	Het
Kl	A	G	5: 150,906,132 (GRCm39)	K501E	probably benign	Het
Klhl42	A	G	6: 147,009,427 (GRCm39)	N422S	probably damaging	Het
Kmt2d	C	G	15: 98,753,471 (GRCm39)	K127N	probably damaging	Het
Kmt2d	T	A	15: 98,753,472 (GRCm39)	K127M	probably damaging	Het
Krt39	T	A	11: 99,405,461 (GRCm39)	T480S	probably benign	Het
Lims2	T	A	18: 32,088,395 (GRCm39)	C198*	probably null	Het
Mctp1	A	G	13: 76,532,729 (GRCm39)	N26D	possibly damaging	Het
Mdm4	A	G	1: 132,931,538 (GRCm39)	S168P	probably benign	Het
Myo3a	A	G	2: 22,455,008 (GRCm39)	Y71C	probably benign	Het
Nlrp9c	T	A	7: 26,084,319 (GRCm39)	D420V	probably damaging	Het
Ntf3	A	T	6: 126,079,485 (GRCm39)	I7N	possibly damaging	Het
Or10ag52	G	A	2: 87,043,721 (GRCm39)	G162S	probably benign	Het
Or13c25	G	T	4: 52,910,849 (GRCm39)	T315K	probably benign	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Papln	C	A	12: 83,836,028 (GRCm39)	Y1222*	probably null	Het
Pgm3	T	G	9: 86,440,531 (GRCm39)	I387L	possibly damaging	Het
Pira12	G	C	7: 3,900,871 (GRCm39)	P20R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plcb4	T	A	2: 135,854,947 (GRCm39)	V1174E	probably damaging	Het
Polr1b	A	G	2: 128,943,031 (GRCm39)	N9D	probably benign	Het
Prkaa2	G	A	4: 104,893,950 (GRCm39)	Q456*	probably null	Het
Ptch2	G	T	4: 116,965,858 (GRCm39)	V425L	probably benign	Het
Ptprh	A	T	7: 4,552,394 (GRCm39)	S957T	probably benign	Het
Riok1	A	G	13: 38,241,177 (GRCm39)	D444G	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Sec24c	T	C	14: 20,736,955 (GRCm39)	S304P	probably damaging	Het
Serpinb6b	A	T	13: 33,158,991 (GRCm39)	D64V	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,531 (GRCm39)		probably null	Het
Six6	T	A	12: 72,988,538 (GRCm39)	I237N	probably damaging	Het
Slc2a10	A	G	2: 165,356,550 (GRCm39)	D70G	probably damaging	Het
Slc2a3	T	A	6: 122,713,700 (GRCm39)	I171F	probably damaging	Het
Smc4	A	G	3: 68,940,401 (GRCm39)	T1087A	probably damaging	Het
Spg21	A	G	9: 65,391,779 (GRCm39)	Y242C	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Stx2	G	A	5: 129,065,903 (GRCm39)	T251M	probably damaging	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Tasor2	A	T	13: 3,626,612 (GRCm39)	Y1113N	possibly damaging	Het
Tbc1d31	G	A	15: 57,775,760 (GRCm39)	R17H	probably damaging	Het
Tbl3	G	A	17: 24,923,477 (GRCm39)	T284I	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tgoln1	T	C	6: 72,593,084 (GRCm39)	E132G	probably benign	Het
Timeless	T	C	10: 128,077,583 (GRCm39)	I221T	probably damaging	Het
Tmem176b	C	T	6: 48,815,138 (GRCm39)	A52T	possibly damaging	Het
Tmem192	C	T	8: 65,418,235 (GRCm39)	L207F	probably damaging	Het
Trank1	T	C	9: 111,176,996 (GRCm39)		probably null	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vcan	T	C	13: 89,841,134 (GRCm39)	E1470G	probably damaging	Het
Vmn1r200	T	A	13: 22,579,663 (GRCm39)	N146K	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r61	T	C	7: 41,949,710 (GRCm39)	I710T	possibly damaging	Het
Wipf1	T	A	2: 73,270,499 (GRCm39)	K61N	probably benign	Het
Zfp112	T	C	7: 23,824,662 (GRCm39)	V210A	probably benign	Het
Zfp612	G	A	8: 110,815,095 (GRCm39)	V101M	probably benign	Het
Zfp637	A	G	6: 117,822,681 (GRCm39)	R270G	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	possibly damaging	Het
Zfp97	A	G	17: 17,365,265 (GRCm39)	I255V	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
R1439:Slc25a36	UTSW	9	96,975,126 (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
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'- CCCTGAGACACATAGATTCAACTG -3'
(R):5'- TGGGTAAACCTGATGTTATGTTGAC -3'

Sequencing Primer
(F):5'- TGAGACACATAGATTCAACTGATAAC -3'
(R):5'- ACCTGATGTTATGTTGACTATGACTG -3'

Posted On

2014-07-14