Mutagenetix > Incidental Mutation

Incidental Mutation 'R7730:Slc35a5'

595792

Institutional Source

Beutler Lab

Gene Symbol

Slc35a5

Ensembl Gene

ENSMUSG00000022664

Gene Name

solute carrier family 35, member A5

Synonyms

1010001J06Rik, D730043G07Rik, D16Ertd450e

MMRRC Submission

045786-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R7730 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44959936-44979036 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44964246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 329 (Q329R)

Ref Sequence

ENSEMBL: ENSMUSP00000023344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023344] [ENSMUST00000114600] [ENSMUST00000180636] [ENSMUST00000181177]

AlphaFold

Q921R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023344
AA Change: Q329R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023344
Gene: ENSMUSG00000022664
AA Change: Q329R

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	28	387	1.3e-54	PFAM
low complexity region	424	437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114600

SMART Domains

Protein: ENSMUSP00000110247
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	43	65	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
Pfam:Nuc_sug_transp	107	155	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180636

SMART Domains

Protein: ENSMUSP00000137821
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:UAA	30	196	5.2e-8	PFAM
Pfam:TPT	31	177	3.3e-7	PFAM
Pfam:EamA	73	179	1.2e-7	PFAM
Pfam:Nuc_sug_transp	91	222	7.5e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000181177

SMART Domains

Protein: ENSMUSP00000137789
Gene: ENSMUSG00000022664

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	30	94	1.1e-12	PFAM
low complexity region	139	152	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,703 (GRCm39)	H628L	probably benign	Het
Adam6a	T	A	12: 113,507,660 (GRCm39)	V11E	possibly damaging	Het
Amotl1	T	G	9: 14,467,059 (GRCm39)	K660T	possibly damaging	Het
Ap4m1	T	C	5: 138,171,077 (GRCm39)	I59T	probably damaging	Het
Brd3	T	C	2: 27,346,967 (GRCm39)	Y389C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Card11	C	A	5: 140,871,751 (GRCm39)	R650L	probably damaging	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Cnst	T	C	1: 179,452,650 (GRCm39)	C673R	probably damaging	Het
Dld	G	T	12: 31,390,864 (GRCm39)	T194K	probably benign	Het
Dnah12	T	A	14: 26,507,890 (GRCm39)	W1714R	probably damaging	Het
Dsg1a	T	G	18: 20,464,768 (GRCm39)	V421G	possibly damaging	Het
Fer1l4	G	T	2: 155,890,854 (GRCm39)	P188Q	probably benign	Het
Gpr158	T	C	2: 21,831,158 (GRCm39)	S753P	probably damaging	Het
Hdc	A	T	2: 126,436,002 (GRCm39)	M623K	possibly damaging	Het
Herc1	CAACCCTGGTAAC	CAAC	9: 66,400,472 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,954,878 (GRCm39)	F203I	probably damaging	Het
Jag2	A	T	12: 112,885,661 (GRCm39)	I145N	probably damaging	Het
Kcnt2	T	A	1: 140,446,686 (GRCm39)	F694I	probably benign	Het
Lpl	A	T	8: 69,340,100 (GRCm39)	R32*	probably null	Het
Mcpt4	T	A	14: 56,297,428 (GRCm39)	I243L	probably benign	Het
Mtf1	C	A	4: 124,732,412 (GRCm39)	A490E	possibly damaging	Het
Mycbp2	A	T	14: 103,360,791 (GRCm39)	M4497K	probably damaging	Het
Myog	T	C	1: 134,218,914 (GRCm39)		probably null	Het
Nav2	T	C	7: 49,222,145 (GRCm39)	S1757P	probably damaging	Het
Or7g18	T	G	9: 18,786,709 (GRCm39)	F26V	probably benign	Het
Osmr	T	A	15: 6,853,963 (GRCm39)	I583F	probably damaging	Het
Phf19	T	A	2: 34,785,816 (GRCm39)	E551V	probably damaging	Het
Plxnb2	A	G	15: 89,046,533 (GRCm39)	M870T	probably benign	Het
Psat1	A	G	19: 15,895,720 (GRCm39)	F83L	probably damaging	Het
Reep1	T	A	6: 71,757,725 (GRCm39)	V108D	possibly damaging	Het
Rorc	A	G	3: 94,300,421 (GRCm39)	T455A	probably benign	Het
Serinc5	T	G	13: 92,821,698 (GRCm39)	I169S	probably damaging	Het
Serpinb6c	T	C	13: 34,083,292 (GRCm39)	M41V	probably damaging	Het
Sgsm3	A	T	15: 80,892,927 (GRCm39)	N335Y	probably damaging	Het
Slamf7	C	T	1: 171,468,589 (GRCm39)	R101H	possibly damaging	Het
Slc17a4	A	T	13: 24,084,503 (GRCm39)	L427*	probably null	Het
Slc45a1	C	T	4: 150,715,397 (GRCm39)	C656Y	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Syn3	T	G	10: 86,284,773 (GRCm39)	H109P	probably benign	Het
Synj2	T	C	17: 6,066,562 (GRCm39)	V580A	probably benign	Het
Tbc1d9b	T	C	11: 50,026,742 (GRCm39)	V70A	possibly damaging	Het
Tc2n	A	G	12: 101,617,406 (GRCm39)	Y402H	probably damaging	Het
Tmbim4	T	C	10: 120,059,767 (GRCm39)	C164R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,117,470 (GRCm39)	R262*	probably null	Het
Tnip1	T	C	11: 54,828,805 (GRCm39)	K121E	probably benign	Het
Tut1	T	C	19: 8,941,740 (GRCm39)		probably null	Het
Uhrf2	T	A	19: 30,052,501 (GRCm39)	C332S	probably damaging	Het
Vmn2r101	A	G	17: 19,831,950 (GRCm39)	I649V	possibly damaging	Het
Vwa8	A	G	14: 79,232,589 (GRCm39)	T644A	probably benign	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp384	A	G	6: 125,008,635 (GRCm39)	I306V	probably benign	Het
Zfp964	A	G	8: 70,116,360 (GRCm39)	E320G	possibly damaging	Het
Zmym2	A	T	14: 57,193,638 (GRCm39)	Y1151F	possibly damaging	Het

Other mutations in Slc35a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Slc35a5	APN	16	44,972,971 (GRCm39)	nonsense	probably null
IGL01012:Slc35a5	APN	16	44,964,195 (GRCm39)	missense	probably damaging	1.00
IGL01396:Slc35a5	APN	16	44,971,866 (GRCm39)	missense	probably damaging	1.00
IGL03293:Slc35a5	APN	16	44,964,144 (GRCm39)	missense	probably damaging	1.00
3-1:Slc35a5	UTSW	16	44,964,255 (GRCm39)	missense	probably damaging	0.99
R1532:Slc35a5	UTSW	16	44,971,920 (GRCm39)	missense	probably benign	0.03
R1561:Slc35a5	UTSW	16	44,971,884 (GRCm39)	missense	possibly damaging	0.93
R1864:Slc35a5	UTSW	16	44,964,071 (GRCm39)	missense	possibly damaging	0.66
R2086:Slc35a5	UTSW	16	44,964,628 (GRCm39)	missense	probably damaging	0.99
R2887:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R2888:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R2889:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R2890:Slc35a5	UTSW	16	44,971,923 (GRCm39)	missense	probably damaging	1.00
R3080:Slc35a5	UTSW	16	44,964,758 (GRCm39)	missense	probably benign	0.06
R3434:Slc35a5	UTSW	16	44,964,396 (GRCm39)	missense	probably benign	0.23
R3720:Slc35a5	UTSW	16	44,967,685 (GRCm39)	missense	probably damaging	0.99
R3722:Slc35a5	UTSW	16	44,967,685 (GRCm39)	missense	probably damaging	0.99
R3916:Slc35a5	UTSW	16	44,978,521 (GRCm39)	intron	probably benign
R3917:Slc35a5	UTSW	16	44,978,521 (GRCm39)	intron	probably benign
R4616:Slc35a5	UTSW	16	44,964,655 (GRCm39)	missense	probably benign	0.12
R6648:Slc35a5	UTSW	16	44,964,280 (GRCm39)	missense	probably damaging	1.00
R6881:Slc35a5	UTSW	16	44,964,443 (GRCm39)	missense	possibly damaging	0.83
R7832:Slc35a5	UTSW	16	44,964,570 (GRCm39)	missense	possibly damaging	0.76
R8113:Slc35a5	UTSW	16	44,962,551 (GRCm39)	missense	unknown
R8726:Slc35a5	UTSW	16	44,964,021 (GRCm39)	missense	probably damaging	0.98
R9478:Slc35a5	UTSW	16	44,964,426 (GRCm39)	missense	probably damaging	1.00
R9714:Slc35a5	UTSW	16	44,964,426 (GRCm39)	missense	probably damaging	1.00
R9777:Slc35a5	UTSW	16	44,972,939 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTCTAGATTTTGAGGCTTGC -3'
(R):5'- GGGCCACGTTCTGATTATAGTTC -3'

Sequencing Primer
(F):5'- TGATGGGGCTTCTAGGAA -3'
(R):5'- GGCCAATATCTATAATGAGAAGATCC -3'

Posted On

2019-11-12