Mutagenetix > Incidental Mutation

Incidental Mutation 'R8435:Slc35f5'

653928

Institutional Source

Beutler Lab

Gene Symbol

Slc35f5

Ensembl Gene

ENSMUSG00000026342

Gene Name

solute carrier family 35, member F5

Synonyms

1300003P13Rik

MMRRC Submission

067824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R8435 (G1)

Quality Score

153.008

Status

Not validated

Chromosome

Chromosomal Location

125488332-125523557 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 125488994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 5 (R5*)

Ref Sequence

ENSEMBL: ENSMUSP00000027580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027580] [ENSMUST00000190037]

AlphaFold

Q8R314

Predicted Effect

probably null
Transcript: ENSMUST00000027580
AA Change: R5*

SMART Domains

Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: R5*

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
transmembrane domain	69	86	N/A	INTRINSIC
transmembrane domain	101	120	N/A	INTRINSIC
Pfam:EamA	226	317	2.1e-8	PFAM
transmembrane domain	329	348	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	397	419	N/A	INTRINSIC
transmembrane domain	421	443	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190037

SMART Domains

Protein: ENSMUSP00000139639
Gene: ENSMUSG00000026342

Domain	Start	End	E-Value	Type
low complexity region	34	48	N/A	INTRINSIC
transmembrane domain	91	108	N/A	INTRINSIC
transmembrane domain	123	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	G	T	12: 24,146,881 (GRCm39)	T30K	possibly damaging	Het
Adam20	C	T	8: 41,248,072 (GRCm39)	P61S	probably damaging	Het
Akip1	C	T	7: 109,304,193 (GRCm39)	S90L	unknown	Het
Atp13a5	C	T	16: 29,099,747 (GRCm39)		probably null	Het
Atp1a1	A	G	3: 101,490,078 (GRCm39)	Y684H	probably benign	Het
Bach2	T	A	4: 32,501,682 (GRCm39)	C20S	possibly damaging	Het
Cage1	T	C	13: 38,203,161 (GRCm39)	I634M	possibly damaging	Het
Cckbr	T	C	7: 105,075,280 (GRCm39)	S17P	probably benign	Het
Celsr2	T	C	3: 108,321,715 (GRCm39)	T366A	probably benign	Het
Cps1	G	A	1: 67,251,589 (GRCm39)	V1196I	probably benign	Het
Ddc	A	T	11: 11,814,902 (GRCm39)	S188T	probably damaging	Het
Eml4	T	C	17: 83,729,070 (GRCm39)	C82R	possibly damaging	Het
Fig4	T	A	10: 41,161,670 (GRCm39)	H31L	probably benign	Het
Fkbp5	T	C	17: 28,621,752 (GRCm39)	D366G	possibly damaging	Het
Ift80	A	G	3: 68,892,787 (GRCm39)	S134P	probably damaging	Het
Lacc1	A	T	14: 77,272,475 (GRCm39)	V107D	possibly damaging	Het
Lcp2	A	G	11: 34,004,316 (GRCm39)	E51G	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lrp1	A	G	10: 127,392,199 (GRCm39)	Y2815H	probably damaging	Het
Lrp4	T	C	2: 91,307,998 (GRCm39)	L481P	probably damaging	Het
Ltbp4	C	A	7: 27,034,870 (GRCm39)	R97L	unknown	Het
Mbnl1	G	A	3: 60,437,090 (GRCm39)	W13*	probably null	Het
Neb	T	A	2: 52,157,729 (GRCm39)	T2293S	probably benign	Het
Nrg3	CCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGC	14: 39,194,654 (GRCm39)		probably benign	Het
Odr4	T	G	1: 150,258,020 (GRCm39)	K205T	possibly damaging	Het
Or56b1	A	T	7: 104,285,657 (GRCm39)	T259S	probably benign	Het
Or5v1	A	G	17: 37,809,676 (GRCm39)	I45V	probably benign	Het
Or8a1b	T	A	9: 37,622,846 (GRCm39)	H243L	probably damaging	Het
Pcmt1	G	A	10: 7,515,825 (GRCm39)	P221L	possibly damaging	Het
Plag1	T	A	4: 3,905,648 (GRCm39)	D14V	probably benign	Het
Ppp4r3a	A	G	12: 101,049,048 (GRCm39)	S28P	probably benign	Het
Rab11fip5	T	A	6: 85,314,522 (GRCm39)	I1232F	possibly damaging	Het
Rpl18a	C	T	8: 71,348,341 (GRCm39)	G114D	possibly damaging	Het
Rtel1	A	G	2: 180,995,897 (GRCm39)	D927G	possibly damaging	Het
Shcbp1	C	T	8: 4,798,734 (GRCm39)	C395Y	probably benign	Het
Slc22a28	T	A	19: 8,048,565 (GRCm39)	T361S	probably benign	Het
Slc37a4	G	A	9: 44,310,759 (GRCm39)	C121Y	probably damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tc2n	C	T	12: 101,615,376 (GRCm39)	W483*	probably null	Het
Tex101	G	A	7: 24,367,791 (GRCm39)	T187I	probably damaging	Het
Trpc6	T	C	9: 8,610,441 (GRCm39)	L303P	probably damaging	Het
Trpv5	A	T	6: 41,647,827 (GRCm39)	Y329N	probably damaging	Het
Tshz1	C	A	18: 84,032,149 (GRCm39)	S753I	probably damaging	Het
Ttn	G	A	2: 76,546,264 (GRCm39)	T32383I	probably damaging	Het
Txlnb	A	G	10: 17,703,544 (GRCm39)	E234G	probably damaging	Het
Vmn1r120	T	A	7: 20,787,557 (GRCm39)	R51S	probably benign	Het
Vmn2r17	A	T	5: 109,576,172 (GRCm39)	T348S	probably benign	Het
Zdhhc21	T	C	4: 82,753,714 (GRCm39)	Y158C	probably damaging	Het
Zfp236	C	T	18: 82,658,366 (GRCm39)	G632D	probably damaging	Het

Other mutations in Slc35f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc35f5	APN	1	125,515,161 (GRCm39)	missense	probably damaging	1.00
IGL01844:Slc35f5	APN	1	125,517,612 (GRCm39)	missense	probably damaging	0.96
IGL02218:Slc35f5	APN	1	125,512,292 (GRCm39)	missense	probably damaging	1.00
IGL02586:Slc35f5	APN	1	125,512,273 (GRCm39)	missense	probably damaging	1.00
IGL03000:Slc35f5	APN	1	125,502,479 (GRCm39)	missense	probably damaging	1.00
IGL03160:Slc35f5	APN	1	125,502,472 (GRCm39)	missense	probably damaging	1.00
IGL03181:Slc35f5	APN	1	125,512,922 (GRCm39)	missense	probably damaging	1.00
IGL02984:Slc35f5	UTSW	1	125,490,250 (GRCm39)	missense	probably benign	0.28
R0127:Slc35f5	UTSW	1	125,503,942 (GRCm39)	missense	probably damaging	1.00
R0390:Slc35f5	UTSW	1	125,512,832 (GRCm39)	missense	probably damaging	1.00
R0513:Slc35f5	UTSW	1	125,503,906 (GRCm39)	splice site	probably benign
R1701:Slc35f5	UTSW	1	125,498,330 (GRCm39)	missense	possibly damaging	0.77
R1716:Slc35f5	UTSW	1	125,512,269 (GRCm39)	missense	possibly damaging	0.65
R2211:Slc35f5	UTSW	1	125,507,001 (GRCm39)	missense	possibly damaging	0.74
R3024:Slc35f5	UTSW	1	125,496,335 (GRCm39)	missense	probably benign	0.00
R3870:Slc35f5	UTSW	1	125,490,098 (GRCm39)	missense	probably benign	0.00
R4239:Slc35f5	UTSW	1	125,500,211 (GRCm39)	missense	possibly damaging	0.94
R4547:Slc35f5	UTSW	1	125,500,119 (GRCm39)	missense	probably benign	0.00
R5622:Slc35f5	UTSW	1	125,517,693 (GRCm39)	missense	probably damaging	1.00
R5688:Slc35f5	UTSW	1	125,518,775 (GRCm39)	missense	probably benign	0.23
R5876:Slc35f5	UTSW	1	125,515,100 (GRCm39)	critical splice acceptor site	probably null
R6701:Slc35f5	UTSW	1	125,490,347 (GRCm39)	missense	probably damaging	1.00
R7292:Slc35f5	UTSW	1	125,500,222 (GRCm39)	missense	probably damaging	0.99
R7368:Slc35f5	UTSW	1	125,512,256 (GRCm39)	missense	probably damaging	1.00
R7530:Slc35f5	UTSW	1	125,512,275 (GRCm39)	missense	probably damaging	1.00
R7807:Slc35f5	UTSW	1	125,512,278 (GRCm39)	missense	probably damaging	1.00
R8004:Slc35f5	UTSW	1	125,517,624 (GRCm39)	missense	probably damaging	0.98
R8289:Slc35f5	UTSW	1	125,490,252 (GRCm39)	nonsense	probably null
R9011:Slc35f5	UTSW	1	125,490,050 (GRCm39)	missense	probably benign	0.03
R9339:Slc35f5	UTSW	1	125,517,628 (GRCm39)	missense	probably benign	0.34
R9365:Slc35f5	UTSW	1	125,496,333 (GRCm39)	missense	probably benign	0.08
Z1177:Slc35f5	UTSW	1	125,512,971 (GRCm39)	critical splice donor site	probably null
Z1177:Slc35f5	UTSW	1	125,488,442 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTCTAGGTGGTCAATAGGTC -3'
(R):5'- TCACGACAGAAAACAGCTGG -3'

Sequencing Primer
(F):5'- AGTCTGACTGGCTGACGG -3'
(R):5'- TGGCACAGGGAAGCCGC -3'

Posted On

2020-10-20