Mutagenetix > Incidental Mutation

Incidental Mutation 'R1628:Slc25a17'

172642

Institutional Source

Beutler Lab

Gene Symbol

Slc25a17

Ensembl Gene

ENSMUSG00000022404

Gene Name

solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17

Synonyms

PMP34, 34kDa

MMRRC Submission

039665-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R1628 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

81203122-81244966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81244925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3 (S3P)

Ref Sequence

ENSEMBL: ENSMUSP00000155823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023039] [ENSMUST00000023040] [ENSMUST00000172107] [ENSMUST00000230309] [ENSMUST00000231140]

AlphaFold

O70579

Predicted Effect

probably benign
Transcript: ENSMUST00000023039

SMART Domains

Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	6e-25	PDB
low complexity region	52	72	N/A	INTRINSIC
TPR	104	137	1.2e1	SMART
TPR	138	171	6.95e-4	SMART
TPR	172	205	4.8e1	SMART
coiled coil region	225	264	N/A	INTRINSIC
low complexity region	271	305	N/A	INTRINSIC
STI1	312	351	3.37e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023040
AA Change: S3P

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023040
Gene: ENSMUSG00000022404
AA Change: S3P

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	6	97	1e-17	PFAM
Pfam:Mito_carr	97	197	6.3e-24	PFAM
Pfam:Mito_carr	199	297	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172107

SMART Domains

Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	6e-25	PDB
low complexity region	52	66	N/A	INTRINSIC
low complexity region	71	81	N/A	INTRINSIC
TPR	113	146	1.2e1	SMART
TPR	147	180	6.95e-4	SMART
TPR	181	214	4.8e1	SMART
coiled coil region	234	273	N/A	INTRINSIC
low complexity region	280	314	N/A	INTRINSIC
STI1	321	360	3.37e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229617

Predicted Effect

unknown
Transcript: ENSMUST00000230309
AA Change: S2P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231078

Predicted Effect

possibly damaging
Transcript: ENSMUST00000231140
AA Change: S3P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 84,999,419 (GRCm39)	Q172*	probably null	Het
AI467606	G	A	7: 126,691,755 (GRCm39)	G110D	probably benign	Het
Arhgef15	A	C	11: 68,835,640 (GRCm39)	L805R	possibly damaging	Het
B3galnt1	G	A	3: 69,482,961 (GRCm39)	T100I	probably damaging	Het
Bod1l	T	A	5: 41,974,325 (GRCm39)	M2330L	probably benign	Het
Calcr	A	T	6: 3,700,251 (GRCm39)	H280Q	possibly damaging	Het
Camk1d	T	C	2: 5,315,848 (GRCm39)	D263G	probably damaging	Het
Cd48	T	A	1: 171,532,420 (GRCm39)	I233N	probably damaging	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dapk3	C	A	10: 81,027,643 (GRCm39)	T227K	possibly damaging	Het
Dnajc22	A	G	15: 98,998,817 (GRCm39)	M1V	probably null	Het
Etv5	C	T	16: 22,220,421 (GRCm39)		probably null	Het
Gabrr1	A	G	4: 33,152,432 (GRCm39)	Y124C	probably damaging	Het
Gba2	C	T	4: 43,570,118 (GRCm39)	R392Q	probably benign	Het
Gli3	C	G	13: 15,900,897 (GRCm39)	A1428G	probably benign	Het
Gls	G	A	1: 52,271,835 (GRCm39)	A106V	probably benign	Het
Gm21370	A	G	13: 120,488,414 (GRCm39)	V45A	possibly damaging	Het
Gpr4	A	G	7: 18,957,124 (GRCm39)	T349A	probably benign	Het
Gpr6	C	T	10: 40,947,544 (GRCm39)	V13M	possibly damaging	Het
Gvin3	A	T	7: 106,202,476 (GRCm39)	L256*	probably null	Het
Hectd3	A	G	4: 116,854,589 (GRCm39)	H345R	probably damaging	Het
Igfl3	A	T	7: 17,914,232 (GRCm39)	K135N	probably benign	Het
Il23r	A	G	6: 67,400,593 (GRCm39)	L579S	probably damaging	Het
Itsn2	A	C	12: 4,679,652 (GRCm39)	M154L	probably benign	Het
Junb	T	A	8: 85,705,039 (GRCm39)	Q7L	possibly damaging	Het
Kif21b	T	A	1: 136,098,958 (GRCm39)	H1415Q	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhdc10	T	G	6: 30,444,461 (GRCm39)	F79L	probably damaging	Het
Klk1b8	A	G	7: 43,603,565 (GRCm39)		probably null	Het
Lmbrd2	T	A	15: 9,182,593 (GRCm39)	N509K	probably damaging	Het
Mctp2	A	G	7: 71,861,337 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,117,306 (GRCm39)	N913S	probably benign	Het
N4bp2	G	A	5: 65,960,915 (GRCm39)		probably null	Het
Nt5c1a	A	G	4: 123,102,284 (GRCm39)	E70G	possibly damaging	Het
Or12k5	A	G	2: 36,894,738 (GRCm39)	V296A	probably damaging	Het
Papln	A	G	12: 83,831,180 (GRCm39)		probably benign	Het
Pcnx3	G	T	19: 5,736,093 (GRCm39)	S244R	probably damaging	Het
Pecam1	A	T	11: 106,573,786 (GRCm39)		probably null	Het
Plppr4	A	T	3: 117,121,921 (GRCm39)	L219Q	probably damaging	Het
Ppp2r5b	A	G	19: 6,280,935 (GRCm39)		probably null	Het
Ralgapb	A	G	2: 158,272,383 (GRCm39)	R146G	probably benign	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rfpl4b	T	G	10: 38,697,530 (GRCm39)	I24L	probably benign	Het
Serpinb1b	G	A	13: 33,277,637 (GRCm39)	C290Y	probably benign	Het
Skic3	A	G	13: 76,259,910 (GRCm39)	E70G	possibly damaging	Het
Slc4a11	A	C	2: 130,529,047 (GRCm39)		probably null	Het
Spata31e4	T	C	13: 50,856,324 (GRCm39)	L654P	probably benign	Het
Sptb	A	G	12: 76,630,622 (GRCm39)	Y2231H	probably damaging	Het
Srgap1	T	G	10: 121,706,244 (GRCm39)	M221L	probably benign	Het
Srgap3	A	G	6: 112,716,331 (GRCm39)	L599P	probably damaging	Het
Svep1	C	T	4: 58,107,561 (GRCm39)	V1177M	probably benign	Het
Tarbp1	A	G	8: 127,157,599 (GRCm39)	F1303L	possibly damaging	Het
Tbxa2r	T	C	10: 81,170,341 (GRCm39)	S276P	possibly damaging	Het
Try10	A	T	6: 41,334,390 (GRCm39)	D194V	probably damaging	Het
Ttc39c	T	C	18: 12,867,936 (GRCm39)		probably benign	Het
Ttc8	G	A	12: 98,948,780 (GRCm39)	V489M	probably benign	Het
Unc13b	G	T	4: 43,263,371 (GRCm39)	R1912L	probably damaging	Het
Unc45b	T	A	11: 82,820,206 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,048 (GRCm39)	Y292C	probably damaging	Het
Usp34	A	G	11: 23,438,725 (GRCm39)	D3429G	probably damaging	Het
Usp42	A	G	5: 143,703,122 (GRCm39)	S500P	probably damaging	Het
Vmn2r14	T	C	5: 109,367,838 (GRCm39)	M385V	probably benign	Het
Vmn2r60	G	A	7: 41,785,830 (GRCm39)	W211*	probably null	Het
Vwf	A	T	6: 125,624,701 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,918 (GRCm39)	F3018I	probably damaging	Het
Wwox	A	G	8: 115,174,973 (GRCm39)	T102A	probably benign	Het
Zfp142	A	C	1: 74,611,047 (GRCm39)	L813R	possibly damaging	Het
Zfp407	G	A	18: 84,372,658 (GRCm39)	T1670M	probably damaging	Het
Zfp93	A	G	7: 23,974,282 (GRCm39)	E89G	probably benign	Het
Zwint	C	T	10: 72,492,127 (GRCm39)	Q18*	probably null	Het

Other mutations in Slc25a17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01710:Slc25a17	APN	15	81,211,527 (GRCm39)	nonsense	probably null
IGL02655:Slc25a17	APN	15	81,207,844 (GRCm39)	missense	probably benign	0.02
IGL03258:Slc25a17	APN	15	81,213,243 (GRCm39)	splice site	probably benign
Acquisitive	UTSW	15	81,211,485 (GRCm39)	missense	probably benign	0.01
big_guy	UTSW	15	81,244,975 (GRCm39)	utr 5 prime	probably benign
grubbing	UTSW	15	81,213,346 (GRCm39)	missense	probably damaging	1.00
R0114:Slc25a17	UTSW	15	81,222,160 (GRCm39)	missense	probably damaging	1.00
R0763:Slc25a17	UTSW	15	81,207,907 (GRCm39)	splice site	probably benign
R2179:Slc25a17	UTSW	15	81,222,151 (GRCm39)	missense	probably benign	0.02
R3420:Slc25a17	UTSW	15	81,244,901 (GRCm39)	missense	probably benign	0.04
R3421:Slc25a17	UTSW	15	81,244,901 (GRCm39)	missense	probably benign	0.04
R3687:Slc25a17	UTSW	15	81,211,485 (GRCm39)	missense	probably benign	0.01
R3688:Slc25a17	UTSW	15	81,211,485 (GRCm39)	missense	probably benign	0.01
R4707:Slc25a17	UTSW	15	81,211,527 (GRCm39)	missense	probably damaging	0.97
R5617:Slc25a17	UTSW	15	81,244,975 (GRCm39)	utr 5 prime	probably benign
R5650:Slc25a17	UTSW	15	81,213,377 (GRCm39)	splice site	probably null
R5817:Slc25a17	UTSW	15	81,211,261 (GRCm39)	missense	probably damaging	0.97
R6207:Slc25a17	UTSW	15	81,213,265 (GRCm39)	missense	probably damaging	1.00
R6727:Slc25a17	UTSW	15	81,222,154 (GRCm39)	missense	probably benign	0.05
R7331:Slc25a17	UTSW	15	81,213,346 (GRCm39)	missense	probably damaging	1.00
R8101:Slc25a17	UTSW	15	81,222,248 (GRCm39)	missense	probably damaging	1.00
R9276:Slc25a17	UTSW	15	81,207,814 (GRCm39)	missense	probably benign	0.37
R9703:Slc25a17	UTSW	15	81,224,193 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAGCAACTTTCCATTTATGCCCG -3'
(R):5'- TCCATAGCCACTGAGCATTGCTCC -3'

Sequencing Primer
(F):5'- GTCCTTTTCGTTCCAGTTGTG -3'
(R):5'- CCGGACCAATCGATGTTCAG -3'

Posted On

2014-04-24