Mutagenetix > Incidental Mutation

Incidental Mutation 'R0980:Slc35a4'

97096

Institutional Source

Beutler Lab

Gene Symbol

Slc35a4

Ensembl Gene

ENSMUSG00000033272

Gene Name

solute carrier family 35, member A4

Synonyms

2610030J16Rik

MMRRC Submission

039106-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R0980 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

36812268-36816914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36815834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 221 (N221K)

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 damaging
Transcript: ENSMUST00000036158
AA Change: N221K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272
AA Change: N221K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050476
AA Change: N221K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272
AA Change: N221K

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 damaging
Transcript: ENSMUST00000186538
AA Change: N221K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272
AA Change: N221K

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: 98.0%
10x: 95.1%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	T	C	9: 65,424,253 (GRCm39)	H20R	probably damaging	Het
Arfgef3	T	C	10: 18,467,866 (GRCm39)	E1778G	possibly damaging	Het
Arhgef18	C	T	8: 3,439,095 (GRCm39)		probably benign	Het
Blm	A	T	7: 80,149,706 (GRCm39)		probably null	Het
Ccr6	A	G	17: 8,474,846 (GRCm39)	E17G	probably benign	Het
Cep126	T	C	9: 8,100,720 (GRCm39)	T605A	probably damaging	Het
Cnga4	C	A	7: 105,057,213 (GRCm39)	P439T	probably damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cyp2a5	A	G	7: 26,538,431 (GRCm39)		probably null	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Elp3	T	C	14: 65,815,402 (GRCm39)	T197A	probably damaging	Het
Etl4	A	G	2: 20,806,378 (GRCm39)	D1200G	probably damaging	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Gprin1	T	C	13: 54,888,214 (GRCm39)	D20G	possibly damaging	Het
Hltf	T	C	3: 20,145,665 (GRCm39)	S432P	probably benign	Het
Immt	T	C	6: 71,851,310 (GRCm39)	V54A	probably benign	Het
Jhy	T	G	9: 40,856,133 (GRCm39)	Y118S	possibly damaging	Het
Kif23	C	A	9: 61,844,046 (GRCm39)	K154N	possibly damaging	Het
Krt79	T	C	15: 101,846,442 (GRCm39)	T169A	probably damaging	Het
Llgl2	A	G	11: 115,740,827 (GRCm39)	E443G	probably damaging	Het
Ltbp4	A	T	7: 27,023,587 (GRCm39)	C786S	probably damaging	Het
Mme	A	T	3: 63,247,550 (GRCm39)	E278D	probably benign	Het
Nt5c2	G	T	19: 46,887,317 (GRCm39)	Q162K	probably benign	Het
Obscn	A	G	11: 58,888,887 (GRCm39)	V2109A	possibly damaging	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Or8k28	T	C	2: 86,285,704 (GRCm39)	T304A	probably benign	Het
Or8k38	T	A	2: 86,488,209 (GRCm39)	I198L	probably benign	Het
Osmr	G	T	15: 6,881,921 (GRCm39)	N74K	probably benign	Het
Pes1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	11: 3,927,636 (GRCm39)		probably benign	Het
Pgd	A	T	4: 149,238,768 (GRCm39)		probably null	Het
Pld1	T	A	3: 28,178,724 (GRCm39)	S873T	probably damaging	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Proca1	A	C	11: 78,095,773 (GRCm39)	H135P	probably benign	Het
Ptgs2	A	C	1: 149,980,061 (GRCm39)	D333A	probably damaging	Het
Rexo5	T	C	7: 119,423,035 (GRCm39)	V289A	probably damaging	Het
Rnf125	T	A	18: 21,112,117 (GRCm39)	C49*	probably null	Het
Rprd2	C	A	3: 95,673,216 (GRCm39)	R729L	probably damaging	Het
Sipa1l1	A	G	12: 82,388,994 (GRCm39)	S407G	possibly damaging	Het
Sorcs1	T	C	19: 50,220,761 (GRCm39)	D563G	probably benign	Het
Stk39	G	T	2: 68,222,515 (GRCm39)	T183K	probably damaging	Het
Tc2n	T	A	12: 101,644,835 (GRCm39)	K264*	probably null	Het
Trim23	C	T	13: 104,324,635 (GRCm39)	R238W	probably damaging	Het
Trim66	C	A	7: 109,054,877 (GRCm39)	V1240L	probably damaging	Het
Ttn	T	C	2: 76,584,389 (GRCm39)	T13913A	probably damaging	Het
Ubap1	T	G	4: 41,379,832 (GRCm39)	C349G	probably damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	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
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
R5732:Slc35a4	UTSW	18	36,815,394 (GRCm39)	missense	probably benign	0.05
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'- GCACAGCTCTATTGTACTGCCTCTG -3'
(R):5'- TGCTGCTGCCATGCTTCATGAC -3'

Sequencing Primer
(F):5'- GCTTTCAGGAACCTGTGAAC -3'
(R):5'- TGCTTCATGACAGCCGAC -3'

Posted On

2014-01-05