Mutagenetix > Incidental Mutation

Incidental Mutation 'R5732:Slc35a4'

451514

Institutional Source

Beutler Lab

Gene Symbol

Slc35a4

Ensembl Gene

ENSMUSG00000033272

Gene Name

solute carrier family 35, member A4

Synonyms

2610030J16Rik

MMRRC Submission

043347-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R5732 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36812268-36816914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36815394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 75 (T75S)

Ref Sequence

ENSEMBL: ENSMUSP00000140615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001415] [ENSMUST00000036158] [ENSMUST00000050476] [ENSMUST00000115682] [ENSMUST00000185899] [ENSMUST00000186538]

AlphaFold

Q9D321

Predicted Effect

probably benign
Transcript: ENSMUST00000001415

SMART Domains

Protein: ENSMUSP00000001415
Gene: ENSMUSG00000006050

Domain	Start	End	E-Value	Type
WW	30	61	1.72e-7	SMART
low complexity region	85	100	N/A	INTRINSIC
PTB	114	260	7.64e-37	SMART
PTB	286	420	4.07e-32	SMART
low complexity region	444	468	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036158
AA Change: T75S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272
AA Change: T75S

Domain	Start	End	E-Value	Type
Pfam:Nuc_sug_transp	36	321	6.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050476
AA Change: T75S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272
AA Change: T75S

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:Nuc_sug_transp	78	313	2.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115682

SMART Domains

Protein: ENSMUSP00000111346
Gene: ENSMUSG00000044719

Domain	Start	End	E-Value	Type
Blast:KISc	1	105	2e-10	BLAST
SCOP:d1bg2__	1	105	3e-9	SMART
low complexity region	120	130	N/A	INTRINSIC
low complexity region	273	284	N/A	INTRINSIC
coiled coil region	354	385	N/A	INTRINSIC
coiled coil region	433	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170288

Predicted Effect

probably benign
Transcript: ENSMUST00000185899

SMART Domains

Protein: ENSMUSP00000140201
Gene: ENSMUSG00000033272

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:DUF4535	63	101	3.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186538
AA Change: T75S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272
AA Change: T75S

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
Pfam:Nuc_sug_transp	78	313	2.8e-38	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	A	9: 118,977,462 (GRCm39)	M407L	possibly damaging	Het
Acsf2	T	C	11: 94,460,768 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,353 (GRCm39)	D2945G	probably benign	Het
Atg2a	T	C	19: 6,307,490 (GRCm39)	Y1475H	probably damaging	Het
Capn5	A	G	7: 97,778,593 (GRCm39)	L342P	possibly damaging	Het
Ccdc152	A	G	15: 3,321,860 (GRCm39)		probably null	Het
Ccdc7b	A	G	8: 129,799,195 (GRCm39)	M91V	possibly damaging	Het
Cd3g	T	C	9: 44,884,929 (GRCm39)	E105G	possibly damaging	Het
Cdadc1	A	G	14: 59,834,360 (GRCm39)	L44P	probably damaging	Het
Cdh23	A	G	10: 60,167,096 (GRCm39)	V1852A	possibly damaging	Het
Cdx2	T	C	5: 147,238,833 (GRCm39)	Q252R	possibly damaging	Het
Cps1	A	T	1: 67,196,923 (GRCm39)	I325F	probably benign	Het
Dctn1	G	A	6: 83,174,931 (GRCm39)		probably null	Het
Dcun1d3	T	C	7: 119,457,256 (GRCm39)	K152R	probably benign	Het
Dhx35	G	A	2: 158,673,705 (GRCm39)	V379M	probably damaging	Het
Fam171a2	T	C	11: 102,330,807 (GRCm39)	E224G	possibly damaging	Het
Flt1	G	T	5: 147,571,293 (GRCm39)	Y671*	probably null	Het
Fndc3b	T	C	3: 27,515,922 (GRCm39)	Y628C	probably damaging	Het
Foxj3	A	T	4: 119,443,008 (GRCm39)	D144V	probably damaging	Het
Gp2	A	G	7: 119,048,331 (GRCm39)	V429A	probably damaging	Het
Hydin	T	A	8: 111,178,690 (GRCm39)	I1095N	probably benign	Het
Kat2a	A	G	11: 100,599,066 (GRCm39)	F571S	probably damaging	Het
Kcnq1	C	A	7: 142,702,493 (GRCm39)		probably benign	Het
Letm2	A	C	8: 26,077,341 (GRCm39)	S250A	possibly damaging	Het
Llgl1	T	C	11: 60,600,286 (GRCm39)	V545A	probably benign	Het
Lrfn3	T	C	7: 30,059,031 (GRCm39)	D398G	probably benign	Het
Lrig1	G	T	6: 94,676,520 (GRCm39)	C49*	probably null	Het
Mug1	A	G	6: 121,855,452 (GRCm39)	I929V	probably benign	Het
Naaa	G	A	5: 92,411,314 (GRCm39)	T291I	probably damaging	Het
Ndufaf1	G	A	2: 119,490,521 (GRCm39)	Q180*	probably null	Het
Nr3c1	A	T	18: 39,548,752 (GRCm39)	H741Q	probably damaging	Het
Nsun5	T	C	5: 135,400,204 (GRCm39)	L109P	probably damaging	Het
Pacsin3	A	G	2: 91,090,605 (GRCm39)	E18G	probably damaging	Het
Rpgr	G	A	X: 10,032,511 (GRCm39)	P857L	probably benign	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Slc52a2	T	C	15: 76,425,274 (GRCm39)	I434T	probably benign	Het
Slco2a1	C	T	9: 102,927,455 (GRCm39)	T116I	probably damaging	Het
Snrpd2	T	C	7: 18,886,538 (GRCm39)		probably null	Het
Tbc1d32	T	A	10: 55,964,489 (GRCm39)	L903F	probably damaging	Het
Tex10	G	T	4: 48,460,046 (GRCm39)	T435K	probably damaging	Het
Tmem266	T	C	9: 55,288,120 (GRCm39)	S66P	probably damaging	Het
Top2b	A	T	14: 16,400,106 (GRCm38)	E581D	possibly damaging	Het
Uggt1	A	T	1: 36,200,852 (GRCm39)		probably null	Het
Wdr47	T	A	3: 108,540,472 (GRCm39)	Y622*	probably null	Het
Zfp644	A	T	5: 106,784,989 (GRCm39)	H519Q	probably damaging	Het
Zfp687	T	C	3: 94,918,528 (GRCm39)	M415V	possibly damaging	Het

Other mutations in Slc35a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02656:Slc35a4	APN	18	36,815,500 (GRCm39)	missense	probably damaging	0.99
R0980:Slc35a4	UTSW	18	36,815,834 (GRCm39)	missense	probably damaging	1.00
R1586:Slc35a4	UTSW	18	36,816,058 (GRCm39)	missense	probably benign
R1723:Slc35a4	UTSW	18	36,815,788 (GRCm39)	missense	possibly damaging	0.61
R3827:Slc35a4	UTSW	18	36,816,041 (GRCm39)	missense	probably damaging	0.99
R5180:Slc35a4	UTSW	18	36,815,688 (GRCm39)	missense	probably benign
R7101:Slc35a4	UTSW	18	36,814,591 (GRCm39)	missense	probably damaging	0.99
R7257:Slc35a4	UTSW	18	36,812,669 (GRCm39)	missense	unknown
R7402:Slc35a4	UTSW	18	36,813,570 (GRCm39)	missense	unknown
R7606:Slc35a4	UTSW	18	36,815,638 (GRCm39)	missense	probably benign	0.01
R8299:Slc35a4	UTSW	18	36,815,980 (GRCm39)	missense	possibly damaging	0.89
R9300:Slc35a4	UTSW	18	36,815,274 (GRCm39)	missense	probably damaging	1.00
R9441:Slc35a4	UTSW	18	36,816,111 (GRCm39)	missense	probably damaging	1.00
R9665:Slc35a4	UTSW	18	36,813,651 (GRCm39)	missense	probably benign
Z1088:Slc35a4	UTSW	18	36,816,146 (GRCm39)	makesense	probably null
Z1176:Slc35a4	UTSW	18	36,815,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACAAATGTGTCCCAGCCC -3'
(R):5'- CAGTACAATAGAGCTGTGCTTCC -3'

Sequencing Primer
(F):5'- TTGCTAGCTACCCAGGCCAC -3'
(R):5'- CAATAGAGCTGTGCTTCCAATCTTG -3'

Posted On

2017-01-03