Mutagenetix > Incidental Mutation

Incidental Mutation 'R2518:Slc35f1'

254085

Institutional Source

Beutler Lab

Gene Symbol

Slc35f1

Ensembl Gene

ENSMUSG00000038602

Gene Name

solute carrier family 35, member F1

Synonyms

MMRRC Submission

040422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52690533-53111622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53073534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 240 (I240V)

Ref Sequence

ENSEMBL: ENSMUSP00000101113 (fasta)

Gene Model

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

AlphaFold

Q8BGK5

Predicted Effect

probably benign
Transcript: ENSMUST00000105473
AA Change: I240V

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101113
Gene: ENSMUSG00000038602
AA Change: I240V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	T	A	2: 132,750,527 (GRCm38)	S165T	probably damaging	Het
Adam18	A	G	8: 24,637,141 (GRCm38)	C480R	probably damaging	Het
Aftph	G	T	11: 20,725,797 (GRCm38)	T604K	probably damaging	Het
Bivm	T	C	1: 44,129,615 (GRCm38)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,922,086 (GRCm38)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,305,528 (GRCm38)	H527R	probably benign	Het
Cd226	A	G	18: 89,207,327 (GRCm38)	N116S	probably benign	Het
Cit	A	G	5: 115,987,046 (GRCm38)	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,681,980 (GRCm38)	Y663*	probably null	Het
Col3a1	T	A	1: 45,337,512 (GRCm38)		probably benign	Het
Copa	A	G	1: 172,119,901 (GRCm38)	N1095D	probably benign	Het
Cpne1	G	T	2: 156,073,971 (GRCm38)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,928,284 (GRCm38)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,612,930 (GRCm38)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,987,748 (GRCm38)		probably benign	Het
Fam135b	C	T	15: 71,463,911 (GRCm38)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,450,600 (GRCm38)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,236,467 (GRCm38)	S417A	probably benign	Het
Gm9945	C	T	11: 53,480,336 (GRCm38)		probably benign	Het
Golga4	A	G	9: 118,556,612 (GRCm38)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,428,291 (GRCm38)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,197,136 (GRCm38)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,769,749 (GRCm38)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,455,824 (GRCm38)	M94L	unknown	Het
Irs2	C	A	8: 11,005,352 (GRCm38)	A1027S	probably benign	Het
Itga2	A	T	13: 114,881,042 (GRCm38)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,720,747 (GRCm38)	T338A	probably benign	Het
Klk1	T	C	7: 44,220,737 (GRCm38)		probably null	Het
Kmt2b	T	C	7: 30,576,068 (GRCm38)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,994,441 (GRCm38)	I136T	probably benign	Het
Lyar	T	A	5: 38,227,932 (GRCm38)	D105E	probably benign	Het
Mat1a	T	A	14: 41,122,512 (GRCm38)	D366E	probably benign	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Naip1	A	T	13: 100,423,219 (GRCm38)	D1092E	probably benign	Het
Neb	T	A	2: 52,249,511 (GRCm38)	K95*	probably null	Het
Nectin4	A	G	1: 171,380,208 (GRCm38)	D56G	probably benign	Het
Nupl1	A	T	14: 60,232,660 (GRCm38)	F334Y	probably damaging	Het
Olfr1502	A	G	19: 13,862,309 (GRCm38)	N172S	probably damaging	Het
Olfr294	A	T	7: 86,616,187 (GRCm38)	F153I	probably benign	Het
Pde8a	C	A	7: 81,317,422 (GRCm38)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,378 (GRCm38)	N512K	possibly damaging	Het
Pqlc2	A	G	4: 139,302,499 (GRCm38)	F74L	probably damaging	Het
Pramef8	A	G	4: 143,417,903 (GRCm38)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,067 (GRCm38)	D330G	probably damaging	Het
Ren1	G	A	1: 133,360,124 (GRCm38)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,194,605 (GRCm38)		probably benign	Het
Sept14	A	T	5: 129,699,035 (GRCm38)	S27T	probably benign	Het
Shox2	T	C	3: 66,978,359 (GRCm38)	K128E	possibly damaging	Het
Skint1	T	C	4: 112,025,481 (GRCm38)	W241R	probably benign	Het
Slc24a4	T	A	12: 102,222,051 (GRCm38)	H134Q	probably benign	Het
Slc25a36	A	T	9: 97,079,071 (GRCm38)	L165Q	possibly damaging	Het
Tab2	G	A	10: 7,907,481 (GRCm38)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,518,557 (GRCm38)	E3G	possibly damaging	Het
Tas2r130	A	T	6: 131,630,073 (GRCm38)	I253K	probably damaging	Het
Timm44	A	C	8: 4,266,588 (GRCm38)	C319G	probably null	Het
Tjap1	A	T	17: 46,260,095 (GRCm38)	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,666,154 (GRCm38)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,599,903 (GRCm38)	D339V	probably damaging	Het
Tst	T	C	15: 78,405,833 (GRCm38)	M1V	probably null	Het
Ube4a	A	T	9: 44,948,137 (GRCm38)	N335K	probably benign	Het
Vps54	C	T	11: 21,306,394 (GRCm38)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,403,358 (GRCm38)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,347,939 (GRCm38)	Y13H	probably damaging	Het

Other mutations in Slc35f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc35f1	APN	10	53,062,452 (GRCm38)	missense	probably damaging	1.00
IGL01073:Slc35f1	APN	10	53,021,960 (GRCm38)	missense	probably benign	0.16
IGL01433:Slc35f1	APN	10	53,073,446 (GRCm38)	splice site	probably benign
IGL01566:Slc35f1	APN	10	53,089,455 (GRCm38)	missense	probably damaging	1.00
IGL02693:Slc35f1	APN	10	52,933,128 (GRCm38)	missense	probably damaging	1.00
IGL02870:Slc35f1	APN	10	52,933,207 (GRCm38)	missense	possibly damaging	0.82
IGL03082:Slc35f1	APN	10	52,933,138 (GRCm38)	missense	probably benign
R0884:Slc35f1	UTSW	10	53,089,347 (GRCm38)	missense	probably damaging	1.00
R1340:Slc35f1	UTSW	10	53,089,454 (GRCm38)	missense	probably damaging	1.00
R1781:Slc35f1	UTSW	10	53,062,436 (GRCm38)	splice site	probably null
R1813:Slc35f1	UTSW	10	52,933,195 (GRCm38)	missense	probably damaging	1.00
R1908:Slc35f1	UTSW	10	53,021,904 (GRCm38)	missense	possibly damaging	0.84
R2044:Slc35f1	UTSW	10	53,089,347 (GRCm38)	missense	probably damaging	1.00
R3872:Slc35f1	UTSW	10	53,021,910 (GRCm38)	missense	possibly damaging	0.87
R3934:Slc35f1	UTSW	10	53,108,218 (GRCm38)	missense	probably damaging	1.00
R3935:Slc35f1	UTSW	10	53,108,218 (GRCm38)	missense	probably damaging	1.00
R3936:Slc35f1	UTSW	10	53,108,218 (GRCm38)	missense	probably damaging	1.00
R4118:Slc35f1	UTSW	10	53,089,368 (GRCm38)	missense	probably damaging	0.98
R4921:Slc35f1	UTSW	10	53,062,602 (GRCm38)	missense	probably damaging	0.99
R5116:Slc35f1	UTSW	10	53,021,895 (GRCm38)	missense	probably benign	0.39
R5378:Slc35f1	UTSW	10	52,691,061 (GRCm38)	missense	possibly damaging	0.86
R5387:Slc35f1	UTSW	10	53,108,164 (GRCm38)	missense	probably damaging	1.00
R5500:Slc35f1	UTSW	10	52,933,222 (GRCm38)	missense	probably damaging	0.99
R5590:Slc35f1	UTSW	10	53,108,178 (GRCm38)	missense	possibly damaging	0.63
R5743:Slc35f1	UTSW	10	53,089,450 (GRCm38)	missense	probably benign	0.06
R5916:Slc35f1	UTSW	10	52,933,221 (GRCm38)	nonsense	probably null
R6985:Slc35f1	UTSW	10	53,021,911 (GRCm38)	missense	probably benign	0.02
R7068:Slc35f1	UTSW	10	53,062,500 (GRCm38)	missense	probably damaging	1.00
R7295:Slc35f1	UTSW	10	53,062,541 (GRCm38)	missense	probably benign	0.00
R7427:Slc35f1	UTSW	10	53,089,414 (GRCm38)	missense	probably damaging	1.00
R7428:Slc35f1	UTSW	10	53,089,414 (GRCm38)	missense	probably damaging	1.00
R8334:Slc35f1	UTSW	10	53,108,148 (GRCm38)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TTCCTAGACAGAAACGTGGGC -3'
(R):5'- AAGCTCTTACGGTGGAAGTTTG -3'

Sequencing Primer
(F):5'- CTGGGCTTCTTATGAAAGTATCAG -3'
(R):5'- CTTACGGTGGAAGTTTGGTGATTTTG -3'

Posted On

2014-12-04