Mutagenetix > Incidental Mutation

Incidental Mutation 'R5378:Slc35f1'

425701

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

MMRRC Submission

042953-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5378 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52691061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 22 (H22L)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105473]

AlphaFold

Q8BGK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105473
AA Change: H22L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: H22L

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
Pfam:SLC35F	56	355	1.4e-151	PFAM
Pfam:CRT-like	66	315	2.3e-13	PFAM
Pfam:EamA	217	355	1.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220050

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit no detectable phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,578,277	F39L	probably benign	Het
Abca2	T	G	2: 25,446,068	L2150R	probably damaging	Het
Apob	T	A	12: 8,011,865	V3449D	probably damaging	Het
Arfgef2	T	A	2: 166,873,628	V1331D	probably damaging	Het
Bora	A	G	14: 99,068,493	N433D	probably damaging	Het
Cand2	G	A	6: 115,801,951	A1159T	probably benign	Het
Ccser1	C	T	6: 61,311,666	A271V	probably benign	Het
Ccser2	G	A	14: 36,879,434	T331I	possibly damaging	Het
Cemip	A	G	7: 83,958,525	S758P	probably damaging	Het
Cenpf	C	T	1: 189,653,466	V2206I	possibly damaging	Het
Chrnb1	A	T	11: 69,785,181	S412T	probably benign	Het
Cks1b	A	C	3: 89,416,301	W54G	probably damaging	Het
Col5a3	C	T	9: 20,797,576	V630M	unknown	Het
Dnajb14	A	G	3: 137,885,378	D30G	probably benign	Het
Dpp8	T	C	9: 65,078,014	Y785H	probably damaging	Het
Dsel	T	A	1: 111,862,821		probably benign	Het
Dzip1	C	T	14: 118,911,393	M291I	probably damaging	Het
Esp8	G	A	17: 40,530,142	C98Y	unknown	Het
F11	C	A	8: 45,252,143	M120I	probably benign	Het
Fsip2	T	C	2: 82,989,841	F5306S	possibly damaging	Het
Gm4841	T	C	18: 60,271,041		probably null	Het
Gpr180	T	A	14: 118,139,839	L84Q	probably benign	Het
Grwd1	A	T	7: 45,830,081	D123E	probably benign	Het
Hsfy2	T	C	1: 56,636,668	R237G	probably benign	Het
Htr5a	A	G	5: 27,850,995	Y328C	probably damaging	Het
Klrb1f	G	A	6: 129,053,831	A127T	probably damaging	Het
Mcpt4	A	T	14: 56,062,293		probably null	Het
Muc5b	T	C	7: 141,862,203	V2962A	unknown	Het
Olfr1095	A	T	2: 86,851,463	N78K	probably benign	Het
Olfr601	T	A	7: 103,358,445	I250F	probably damaging	Het
Otog	A	T	7: 46,255,004	T518S	probably damaging	Het
Phgdh	A	T	3: 98,321,323		probably null	Het
Pip5kl1	A	T	2: 32,579,094	T213S	probably benign	Het
Plekhg2	G	A	7: 28,362,669	R594W	probably damaging	Het
Prg4	T	A	1: 150,455,226		probably benign	Het
Prpf40a	T	A	2: 53,145,876	D621V	probably damaging	Het
Ptprz1	A	T	6: 23,007,402	I1655F	probably damaging	Het
Rbm28	T	C	6: 29,128,559	K55E	probably damaging	Het
Rbm43	A	T	2: 51,925,621	V196E	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Serinc4	T	A	2: 121,452,380	M434L	possibly damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg6	A	G	11: 75,041,994	D98G	possibly damaging	Het
Strbp	A	G	2: 37,599,174	Y527H	probably damaging	Het
Strbp	A	G	2: 37,600,806	V479A	probably benign	Het
Tcrg-C2	T	C	13: 19,305,127	Y145C	unknown	Het
Tdg	G	T	10: 82,641,471	V119L	probably benign	Het
Trav10d	G	A	14: 52,811,368	R72H	probably benign	Het
Trim25	T	C	11: 89,009,267	L280P	probably damaging	Het
Tsc22d4	A	G	5: 137,762,464	D49G	probably damaging	Het
Ttn	T	C	2: 76,890,190		probably benign	Het
Tyr	T	A	7: 87,472,495	H363L	probably damaging	Het
Ubr5	A	G	15: 37,989,578	S2020P	probably damaging	Het
Usp9y	T	C	Y: 1,315,928	D2069G	probably damaging	Het
Vmn1r170	T	C	7: 23,606,538	W122R	probably benign	Het
Wdr7	G	A	18: 63,825,239		probably null	Het
Ylpm1	T	A	12: 85,030,255	H793Q	probably damaging	Het
Zadh2	G	A	18: 84,094,678	A160T	probably damaging	Het
Zfp266	G	A	9: 20,499,363	T506I	probably damaging	Het
Zfp518a	T	C	19: 40,915,856	S1410P	probably damaging	Het

Other mutations in Slc35f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc35f1	APN	10	53062452	missense	probably damaging	1.00
IGL01073:Slc35f1	APN	10	53021960	missense	probably benign	0.16
IGL01433:Slc35f1	APN	10	53073446	splice site	probably benign
IGL01566:Slc35f1	APN	10	53089455	missense	probably damaging	1.00
IGL02693:Slc35f1	APN	10	52933128	missense	probably damaging	1.00
IGL02870:Slc35f1	APN	10	52933207	missense	possibly damaging	0.82
IGL03082:Slc35f1	APN	10	52933138	missense	probably benign
R0884:Slc35f1	UTSW	10	53089347	missense	probably damaging	1.00
R1340:Slc35f1	UTSW	10	53089454	missense	probably damaging	1.00
R1781:Slc35f1	UTSW	10	53062436	splice site	probably null
R1813:Slc35f1	UTSW	10	52933195	missense	probably damaging	1.00
R1908:Slc35f1	UTSW	10	53021904	missense	possibly damaging	0.84
R2044:Slc35f1	UTSW	10	53089347	missense	probably damaging	1.00
R2518:Slc35f1	UTSW	10	53073534	missense	probably benign	0.07
R3872:Slc35f1	UTSW	10	53021910	missense	possibly damaging	0.87
R3934:Slc35f1	UTSW	10	53108218	missense	probably damaging	1.00
R3935:Slc35f1	UTSW	10	53108218	missense	probably damaging	1.00
R3936:Slc35f1	UTSW	10	53108218	missense	probably damaging	1.00
R4118:Slc35f1	UTSW	10	53089368	missense	probably damaging	0.98
R4921:Slc35f1	UTSW	10	53062602	missense	probably damaging	0.99
R5116:Slc35f1	UTSW	10	53021895	missense	probably benign	0.39
R5387:Slc35f1	UTSW	10	53108164	missense	probably damaging	1.00
R5500:Slc35f1	UTSW	10	52933222	missense	probably damaging	0.99
R5590:Slc35f1	UTSW	10	53108178	missense	possibly damaging	0.63
R5743:Slc35f1	UTSW	10	53089450	missense	probably benign	0.06
R5916:Slc35f1	UTSW	10	52933221	nonsense	probably null
R6985:Slc35f1	UTSW	10	53021911	missense	probably benign	0.02
R7068:Slc35f1	UTSW	10	53062500	missense	probably damaging	1.00
R7295:Slc35f1	UTSW	10	53062541	missense	probably benign	0.00
R7427:Slc35f1	UTSW	10	53089414	missense	probably damaging	1.00
R7428:Slc35f1	UTSW	10	53089414	missense	probably damaging	1.00
R8334:Slc35f1	UTSW	10	53108148	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TAGCAACCCGAGAGCACTGG -3'
(R):5'- TAGGACCCAGTGCCAAAGG -3'

Sequencing Primer
(F):5'- GCTTCGTCGCTTCGCAAG -3'
(R):5'- AGTGCCAAAGGACCTCGG -3'

Posted On

2016-08-04