Mutagenetix > Incidental Mutation

Incidental Mutation 'R9441:Slc35a4'

713667

Institutional Source

Beutler Lab

Gene Symbol

Slc35a4

Ensembl Gene

ENSMUSG00000033272

Gene Name

solute carrier family 35, member A4

Synonyms

2610030J16Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9441 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36812268-36816914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36816111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 314 (G314S)

Ref Sequence

ENSEMBL: ENSMUSP00000036081 (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: G314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036081
Gene: ENSMUSG00000033272
AA Change: G314S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050476
AA Change: G314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129718
Gene: ENSMUSG00000033272
AA Change: G314S

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

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: G314S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140615
Gene: ENSMUSG00000033272
AA Change: G314S

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	C	A	9: 55,917,776 (GRCm39)	G20V	unknown	Het
Adam22	T	C	5: 8,161,974 (GRCm39)	T733A	possibly damaging	Het
Adam28	T	A	14: 68,874,943 (GRCm39)	N245Y	probably damaging	Het
Aldh9a1	C	G	1: 167,177,919 (GRCm39)	R39G	probably benign	Het
Armc3	A	C	2: 19,253,426 (GRCm39)	E189A	possibly damaging	Het
Atg9a	C	T	1: 75,163,086 (GRCm39)	C338Y	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cars1	G	A	7: 143,123,185 (GRCm39)	T560I	probably benign	Het
Casp8ap2	A	G	4: 32,645,873 (GRCm39)	K1649E	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd84	G	A	1: 171,713,994 (GRCm39)		probably null	Het
Ces2g	G	T	8: 105,690,623 (GRCm39)	A135S	possibly damaging	Het
Cfh	T	C	1: 140,030,149 (GRCm39)	D926G	probably benign	Het
Chrm2	A	G	6: 36,500,955 (GRCm39)	T271A	probably benign	Het
Col6a3	G	T	1: 90,705,249 (GRCm39)	Y2824*	probably null	Het
Cth	T	A	3: 157,616,575 (GRCm39)	R196S	probably damaging	Het
Cyp2g1	T	C	7: 26,514,060 (GRCm39)	M222T	possibly damaging	Het
Depdc5	T	A	5: 33,095,042 (GRCm39)	M773K	probably benign	Het
Dmbx1	G	A	4: 115,780,884 (GRCm39)	P39L	probably damaging	Het
Dst	G	C	1: 34,238,432 (GRCm39)	W1697C	probably damaging	Het
Eno1	C	T	4: 150,321,208 (GRCm39)		probably benign	Het
Erc2	G	T	14: 27,802,114 (GRCm39)	V761L	possibly damaging	Het
Frem1	A	T	4: 82,924,083 (GRCm39)	I292N	probably damaging	Het
Ftdc2	G	A	16: 58,458,884 (GRCm39)		probably benign	Het
Hip1	G	T	5: 135,460,571 (GRCm39)	L530M	possibly damaging	Het
Kcna2	A	G	3: 107,012,268 (GRCm39)	Q283R	probably benign	Het
Kndc1	G	A	7: 139,501,392 (GRCm39)	D894N	probably damaging	Het
Lats1	G	T	10: 7,578,681 (GRCm39)	G602W	probably damaging	Het
Lgals12	A	G	19: 7,581,356 (GRCm39)	L117P	probably damaging	Het
Mfsd4b1	A	T	10: 39,878,680 (GRCm39)	L406I	possibly damaging	Het
Msln	A	T	17: 25,969,731 (GRCm39)	M333K	probably benign	Het
Mup2	A	G	4: 60,139,740 (GRCm39)	V16A	probably benign	Het
Mybpc2	T	C	7: 44,166,330 (GRCm39)	E220G	probably null	Het
Myh6	A	G	14: 55,197,771 (GRCm39)	Y456H	probably benign	Het
Nlrp1a	A	G	11: 71,013,934 (GRCm39)	S439P	probably damaging	Het
Nyap1	T	C	5: 137,733,194 (GRCm39)	E613G	probably benign	Het
Or10b1	G	A	10: 78,355,609 (GRCm39)	V56M	probably benign	Het
Parp8	C	T	13: 117,029,562 (GRCm39)	V554M	probably damaging	Het
Phpt1	A	T	2: 25,464,750 (GRCm39)	D34E	probably benign	Het
Ppip5k2	G	A	1: 97,672,921 (GRCm39)	S463L	probably benign	Het
Prss28	A	G	17: 25,530,215 (GRCm39)	Q173R	probably benign	Het
Rtel1	T	A	2: 180,988,860 (GRCm39)	W441R	possibly damaging	Het
Serbp1	T	C	6: 67,244,025 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,347,848 (GRCm39)	K1319E	unknown	Het
Slc8a1	A	G	17: 81,956,498 (GRCm39)	I180T	probably damaging	Het
Spire1	G	A	18: 67,652,462 (GRCm39)	P205L	probably benign	Het
Tat	G	T	8: 110,720,547 (GRCm39)	G168W	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Trh	C	T	6: 92,219,939 (GRCm39)	G126R	probably benign	Het
Ugcg	G	A	4: 59,207,843 (GRCm39)	G61R	probably damaging	Het
Uggt1	T	C	1: 36,260,306 (GRCm39)	T170A	probably benign	Het
Unc5b	G	A	10: 60,608,028 (GRCm39)	P702S	probably damaging	Het
Usp8	A	G	2: 126,562,073 (GRCm39)	D89G	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,674 (GRCm39)	I845K	probably damaging	Het
Vnn3	A	G	10: 23,740,498 (GRCm39)	N267S	possibly damaging	Het
Xkr9	A	G	1: 13,771,587 (GRCm39)	R368G	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
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
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'- TGAACCAAGCAGTCAATGGG -3'
(R):5'- GCGTTTCCTTAACCAAGCC -3'

Sequencing Primer
(F):5'- CAGTCAATGGGCTGCTCATGTC -3'
(R):5'- ATGCCTCCTAGGGGTAACTC -3'

Posted On

2022-06-15