Mutagenetix > Incidental Mutation

Incidental Mutation 'R7722:Slc35f4'

595297

Institutional Source

Beutler Lab

Gene Symbol

Slc35f4

Ensembl Gene

ENSMUSG00000021852

Gene Name

solute carrier family 35, member F4

Synonyms

4930550L21Rik

MMRRC Submission

045778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R7722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49535976-49763354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49543731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 288 (N288K)

Ref Sequence

ENSEMBL: ENSMUSP00000073972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074368] [ENSMUST00000138884]

AlphaFold

Q8BZK4

Predicted Effect

probably benign
Transcript: ENSMUST00000074368
AA Change: N288K

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: N288K

Domain	Start	End	E-Value	Type
low complexity region	22	30	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
transmembrane domain	160	182	N/A	INTRINSIC
Pfam:SLC35F	216	435	7.6e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138884
AA Change: N138K

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: N138K

Domain	Start	End	E-Value	Type
Pfam:EmrE	18	143	1e-12	PFAM
Pfam:EamA	57	135	8.4e-9	PFAM
Pfam:DUF914	68	314	4.8e-8	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,029,231 (GRCm39)	E151G	probably benign	Het
Alpk2	A	T	18: 65,483,228 (GRCm39)	L260H	probably damaging	Het
Amh	T	C	10: 80,642,458 (GRCm39)	V247A	probably benign	Het
Ank2	T	A	3: 126,822,951 (GRCm39)	I431L	probably benign	Het
Ano7	G	A	1: 93,318,145 (GRCm39)	A286T	probably damaging	Het
Atp8a1	T	A	5: 67,780,041 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,613,762 (GRCm39)	S378T	probably damaging	Het
Clrn1	T	A	3: 58,753,755 (GRCm39)	N202I	possibly damaging	Het
Cspp1	T	C	1: 10,145,126 (GRCm39)	V308A	probably benign	Het
Cyp2a5	T	C	7: 26,536,543 (GRCm39)	L174P	probably benign	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Fancm	T	A	12: 65,153,235 (GRCm39)	D1230E	probably damaging	Het
Fbxl17	A	T	17: 63,663,823 (GRCm39)	N555K	probably damaging	Het
Fmnl2	A	C	2: 52,944,479 (GRCm39)	S153R		Het
Fras1	G	A	5: 96,917,413 (GRCm39)	V3478M	probably damaging	Het
Gnptab	T	C	10: 88,215,390 (GRCm39)	F37S	probably damaging	Het
Gpr183	T	G	14: 122,192,270 (GRCm39)	I84L	probably damaging	Het
Hcn1	A	G	13: 118,039,314 (GRCm39)	H410R	unknown	Het
Hmcn1	A	G	1: 150,543,631 (GRCm39)	V2848A	probably damaging	Het
Hmcn2	A	T	2: 31,272,512 (GRCm39)	R1331*	probably null	Het
Hsd17b4	A	C	18: 50,279,591 (GRCm39)	N190T	probably damaging	Het
Itprid2	T	C	2: 79,492,689 (GRCm39)	S1079P	probably damaging	Het
Kif14	A	G	1: 136,396,033 (GRCm39)	D113G	probably benign	Het
Kmt2e	T	G	5: 23,702,016 (GRCm39)	D881E	probably benign	Het
Lamb1	T	A	12: 31,373,570 (GRCm39)	L1481Q	probably damaging	Het
Limk2	T	C	11: 3,306,092 (GRCm39)		probably null	Het
Luc7l2	T	A	6: 38,580,243 (GRCm39)	S281T	unknown	Het
Map3k5	A	G	10: 20,007,891 (GRCm39)	D1240G	probably benign	Het
Med13l	C	A	5: 118,885,472 (GRCm39)	T1475K	probably benign	Het
Med17	G	T	9: 15,182,987 (GRCm39)	Q353K	probably benign	Het
Mlh3	A	G	12: 85,314,266 (GRCm39)	V640A	probably benign	Het
Mms22l	T	A	4: 24,517,201 (GRCm39)	Y361N	probably damaging	Het
Mtmr2	T	A	9: 13,716,104 (GRCm39)	N532K	probably benign	Het
Mtss1	G	A	15: 58,926,935 (GRCm39)	T47I	probably damaging	Het
Mturn	T	C	6: 54,676,545 (GRCm39)		probably null	Het
Muc20	A	C	16: 32,617,756 (GRCm39)	S3A	probably benign	Het
Nde1	T	C	16: 14,008,128 (GRCm39)	Y164H	unknown	Het
Neurl1b	A	G	17: 26,660,132 (GRCm39)	T451A	probably benign	Het
Or52u1	C	A	7: 104,237,505 (GRCm39)	Q165K	possibly damaging	Het
Or8g18	A	T	9: 39,148,885 (GRCm39)	Y278*	probably null	Het
Pgap3	G	A	11: 98,281,610 (GRCm39)	A196V	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scart1	C	A	7: 139,802,299 (GRCm39)	C209*	probably null	Het
Sdcbp	T	A	4: 6,385,063 (GRCm39)	V94E	possibly damaging	Het
Sgo2a	T	G	1: 58,055,696 (GRCm39)	F627V	probably benign	Het
Skor2	A	C	18: 76,950,339 (GRCm39)	N889T	probably benign	Het
Slc9b2	T	A	3: 135,035,596 (GRCm39)	V355E	probably null	Het
Smarcc2	A	G	10: 128,317,597 (GRCm39)	E566G	possibly damaging	Het
Sorcs2	T	C	5: 36,200,871 (GRCm39)	E559G	probably damaging	Het
Sphkap	T	C	1: 83,256,642 (GRCm39)	D369G	probably benign	Het
Stc1	T	A	14: 69,269,729 (GRCm39)	I103N	possibly damaging	Het
Stx8	T	C	11: 68,094,544 (GRCm39)	V219A	probably damaging	Het
Tg	C	T	15: 66,636,158 (GRCm39)	R582C	possibly damaging	Het
Tshz2	T	A	2: 169,727,192 (GRCm39)	L596Q	probably benign	Het
Tti1	A	G	2: 157,849,527 (GRCm39)	Y571H	probably benign	Het
Zbtb40	A	G	4: 136,718,829 (GRCm39)	I956T	probably damaging	Het
Zfp990	A	C	4: 145,263,532 (GRCm39)	N177H	possibly damaging	Het

Other mutations in Slc35f4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc35f4	APN	14	49,536,334 (GRCm39)	missense	probably benign	0.15
IGL01640:Slc35f4	APN	14	49,556,225 (GRCm39)	missense	probably damaging	0.99
IGL01942:Slc35f4	APN	14	49,762,962 (GRCm39)	splice site	probably benign
IGL01990:Slc35f4	APN	14	49,541,626 (GRCm39)	critical splice donor site	probably null
IGL02097:Slc35f4	APN	14	49,543,703 (GRCm39)	missense	probably damaging	1.00
IGL02803:Slc35f4	APN	14	49,541,714 (GRCm39)	missense	probably benign	0.00
R0005:Slc35f4	UTSW	14	49,559,943 (GRCm39)	splice site	probably benign
R0238:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0238:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0239:Slc35f4	UTSW	14	49,541,713 (GRCm39)	missense	possibly damaging	0.78
R0764:Slc35f4	UTSW	14	49,543,796 (GRCm39)	splice site	probably benign
R1884:Slc35f4	UTSW	14	49,551,091 (GRCm39)	missense	probably damaging	1.00
R1916:Slc35f4	UTSW	14	49,541,380 (GRCm39)	intron	probably benign
R2047:Slc35f4	UTSW	14	49,541,029 (GRCm39)	intron	probably benign
R2239:Slc35f4	UTSW	14	49,543,660 (GRCm39)	critical splice donor site	probably null
R2380:Slc35f4	UTSW	14	49,543,660 (GRCm39)	critical splice donor site	probably null
R4273:Slc35f4	UTSW	14	49,541,758 (GRCm39)	missense	possibly damaging	0.81
R4420:Slc35f4	UTSW	14	49,551,034 (GRCm39)	unclassified	probably benign
R4425:Slc35f4	UTSW	14	49,556,307 (GRCm39)	missense	possibly damaging	0.85
R5261:Slc35f4	UTSW	14	49,540,946 (GRCm39)	intron	probably benign
R5398:Slc35f4	UTSW	14	49,536,304 (GRCm39)	missense	probably damaging	1.00
R5402:Slc35f4	UTSW	14	49,556,331 (GRCm39)	missense	probably damaging	1.00
R6310:Slc35f4	UTSW	14	49,559,914 (GRCm39)	missense	probably damaging	1.00
R6596:Slc35f4	UTSW	14	49,763,057 (GRCm39)	missense	probably damaging	1.00
R6729:Slc35f4	UTSW	14	49,556,417 (GRCm39)	missense	probably benign	0.16
R6864:Slc35f4	UTSW	14	49,556,310 (GRCm39)	missense	possibly damaging	0.55
R7427:Slc35f4	UTSW	14	49,536,355 (GRCm39)	missense	probably damaging	0.99
R7428:Slc35f4	UTSW	14	49,536,355 (GRCm39)	missense	probably damaging	0.99
R7559:Slc35f4	UTSW	14	49,541,732 (GRCm39)	missense	probably benign	0.03
R7596:Slc35f4	UTSW	14	49,543,666 (GRCm39)	missense	probably damaging	1.00
R8263:Slc35f4	UTSW	14	49,551,084 (GRCm39)	missense	probably damaging	1.00
R8525:Slc35f4	UTSW	14	49,541,681 (GRCm39)	missense	possibly damaging	0.56
R9198:Slc35f4	UTSW	14	49,556,377 (GRCm39)	missense	unknown
R9615:Slc35f4	UTSW	14	49,556,306 (GRCm39)	missense	probably benign	0.00
R9751:Slc35f4	UTSW	14	49,536,291 (GRCm39)	missense	possibly damaging	0.49
R9772:Slc35f4	UTSW	14	49,551,175 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTTAGATGCCCAGCACA -3'
(R):5'- GAAGGAGGAGGTAATTAGCCTCA -3'

Sequencing Primer
(F):5'- GACACATTATTATTTAACACGCCTGC -3'
(R):5'- CCTCAAAGAAGGATTTAGCAGCTTTC -3'

Posted On

2019-11-12