Mutagenetix > Incidental Mutation

Incidental Mutation 'R8304:Slc25a47'

639404

Institutional Source

Beutler Lab

Gene Symbol

Slc25a47

Ensembl Gene

ENSMUSG00000048856

Gene Name

solute carrier family 25, member 47

Synonyms

MMRRC Submission

067791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108815740-108822741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108821868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000050329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057026] [ENSMUST00000109848] [ENSMUST00000160477] [ENSMUST00000161154] [ENSMUST00000161410]

AlphaFold

Q6IS41

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057026
AA Change: V219A

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050329
Gene: ENSMUSG00000048856
AA Change: V219A

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	84	1.2e-19	PFAM
Pfam:Mito_carr	94	212	1.5e-19	PFAM
Pfam:Mito_carr	215	308	6.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109848

SMART Domains

Protein: ENSMUSP00000105474
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
WHEP-TRS	16	72	3.01e-23	SMART
Pfam:tRNA-synt_1b	155	447	5.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160477

Predicted Effect

probably benign
Transcript: ENSMUST00000161154

SMART Domains

Protein: ENSMUSP00000124625
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
WHEP-TRS	16	72	3.01e-23	SMART
Pfam:tRNA-synt_1b	155	446	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161410

SMART Domains

Protein: ENSMUSP00000125320
Gene: ENSMUSG00000021266

Domain	Start	End	E-Value	Type
WHEP-TRS	16	72	3.01e-23	SMART
Pfam:tRNA-synt_1b	155	447	5.8e-25	PFAM

Meta Mutation Damage Score

0.0864

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,997,954 (GRCm39)		probably null	Het
Akap11	T	C	14: 78,750,672 (GRCm39)	T572A		Het
Amigo2	A	T	15: 97,144,038 (GRCm39)	L128Q	probably damaging	Het
Ankrd12	A	G	17: 66,291,542 (GRCm39)	I1297T	possibly damaging	Het
Arhgap32	T	A	9: 32,167,233 (GRCm39)	C623*	probably null	Het
Armc2	T	C	10: 41,823,935 (GRCm39)	Y511C	probably damaging	Het
Asb15	C	T	6: 24,559,296 (GRCm39)	P147L	possibly damaging	Het
Caprin1	G	T	2: 103,599,862 (GRCm39)	N604K	probably damaging	Het
Ccnl2	T	C	4: 155,897,679 (GRCm39)	F113L	probably benign	Het
Cltc	C	T	11: 86,616,087 (GRCm39)	R393H	probably benign	Het
Cul4a	G	A	8: 13,177,727 (GRCm39)	C289Y	possibly damaging	Het
Cyp4a29	T	A	4: 115,111,653 (GRCm39)	F477I	probably damaging	Het
Dapk2	C	T	9: 66,139,027 (GRCm39)	A116V	possibly damaging	Het
Ddx60	T	C	8: 62,451,803 (GRCm39)	I1231T	possibly damaging	Het
Eif5b	A	G	1: 38,084,774 (GRCm39)	I874V	probably benign	Het
Eral1	A	T	11: 77,966,828 (GRCm39)	S196T	probably damaging	Het
Erc2	T	G	14: 27,375,122 (GRCm39)	D113E	probably damaging	Het
Frmpd2	A	G	14: 33,274,066 (GRCm39)	I1103V	possibly damaging	Het
Galm	A	G	17: 80,490,766 (GRCm39)	T308A	probably damaging	Het
Helz2	A	T	2: 180,871,950 (GRCm39)	N2650K	probably benign	Het
Herc2	A	G	7: 55,809,186 (GRCm39)	D2562G	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hspbap1	T	A	16: 35,607,695 (GRCm39)	L67*	probably null	Het
Irx3	T	A	8: 92,526,834 (GRCm39)	D290V	probably damaging	Het
Kcns1	A	T	2: 164,010,022 (GRCm39)	Y246N	probably damaging	Het
Kidins220	A	G	12: 25,107,127 (GRCm39)	T1557A	probably benign	Het
Lrriq1	T	C	10: 103,069,929 (GRCm39)	N29S	possibly damaging	Het
Mmp24	T	C	2: 155,641,759 (GRCm39)	F196L	possibly damaging	Het
Mroh2b	T	C	15: 4,955,119 (GRCm39)	V704A	probably damaging	Het
Mst1	A	G	9: 107,958,803 (GRCm39)	M112V	probably benign	Het
Myh8	C	A	11: 67,195,162 (GRCm39)	H1659N	possibly damaging	Het
Nlgn1	C	T	3: 26,187,534 (GRCm39)	C117Y	probably damaging	Het
Opa1	C	T	16: 29,416,489 (GRCm39)	T237M	possibly damaging	Het
Or2r2	C	T	6: 42,463,672 (GRCm39)	V152I	probably benign	Het
Or51f5	A	G	7: 102,423,917 (GRCm39)	Y62C	possibly damaging	Het
Or5v1	A	T	17: 37,810,261 (GRCm39)	T240S	probably damaging	Het
Or8b57	A	T	9: 40,003,650 (GRCm39)	I204N	probably damaging	Het
P3h1	C	T	4: 119,104,402 (GRCm39)	T641M	probably damaging	Het
Pak5	T	C	2: 135,940,203 (GRCm39)	H537R	probably benign	Het
Ppp1r12b	A	T	1: 134,824,101 (GRCm39)	L174Q	possibly damaging	Het
Prkg1	A	G	19: 30,701,584 (GRCm39)	V326A	possibly damaging	Het
Psmb3	T	A	11: 97,601,995 (GRCm39)	C122S	probably benign	Het
Sh3bgrl3	C	A	4: 133,855,312 (GRCm39)	A45S	probably benign	Het
Slfn9	A	C	11: 82,873,605 (GRCm39)	S433A	probably benign	Het
Spata13	A	T	14: 60,993,957 (GRCm39)	R1136S	possibly damaging	Het
Stab1	C	A	14: 30,870,911 (GRCm39)	A1313S	probably benign	Het
Stim1	G	A	7: 102,084,688 (GRCm39)	A547T	possibly damaging	Het
Taf5l	A	T	8: 124,730,251 (GRCm39)	I146N	probably benign	Het
Tbc1d12	A	T	19: 38,825,824 (GRCm39)	E225V	possibly damaging	Het
Tesc	T	C	5: 118,194,495 (GRCm39)	Y135H	probably benign	Het
Tfg	T	C	16: 56,521,581 (GRCm39)	E145G	possibly damaging	Het
Tg	T	A	15: 66,565,109 (GRCm39)	C1150*	probably null	Het
Tmtc1	T	C	6: 148,172,883 (GRCm39)	N616S	probably damaging	Het
Trpm7	A	T	2: 126,639,797 (GRCm39)	W1600R	probably damaging	Het
Ttc17	A	T	2: 94,199,526 (GRCm39)		probably benign	Het
Zfand1	A	T	3: 10,413,615 (GRCm39)	L24*	probably null	Het
Zfp282	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	6: 47,881,722 (GRCm39)		probably benign	Het
Zfp770	A	C	2: 114,027,891 (GRCm39)	F59L	probably damaging	Het

Other mutations in Slc25a47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Slc25a47	APN	12	108,821,314 (GRCm39)	missense	probably benign	0.00
IGL01138:Slc25a47	APN	12	108,821,948 (GRCm39)	missense	probably damaging	1.00
IGL01545:Slc25a47	APN	12	108,820,142 (GRCm39)	missense	probably benign	0.06
IGL01978:Slc25a47	APN	12	108,817,116 (GRCm39)	missense	probably damaging	0.96
R0592:Slc25a47	UTSW	12	108,820,184 (GRCm39)	missense	probably damaging	0.98
R4783:Slc25a47	UTSW	12	108,821,260 (GRCm39)	missense	probably damaging	1.00
R5549:Slc25a47	UTSW	12	108,822,143 (GRCm39)	makesense	probably null
R6085:Slc25a47	UTSW	12	108,820,254 (GRCm39)	missense	probably benign	0.19
R6378:Slc25a47	UTSW	12	108,822,069 (GRCm39)	missense	probably damaging	1.00
R6612:Slc25a47	UTSW	12	108,821,904 (GRCm39)	missense	probably benign	0.02
R7237:Slc25a47	UTSW	12	108,821,386 (GRCm39)	missense	probably damaging	1.00
R8711:Slc25a47	UTSW	12	108,820,313 (GRCm39)	missense	probably damaging	0.99
R8734:Slc25a47	UTSW	12	108,820,247 (GRCm39)	missense	probably benign
R9263:Slc25a47	UTSW	12	108,820,215 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TTAACCCAGGCATGCTTGTAC -3'
(R):5'- AGTGCCAGTCCCTTGAAGAG -3'

Sequencing Primer
(F):5'- TCTTGAGCTGCGCATGC -3'
(R):5'- AGTCCCTTGAAGAGCACCCTG -3'

Posted On

2020-07-28