Mutagenetix > Incidental Mutation

Incidental Mutation 'R7368:Slc35f5'

571909

Institutional Source

Beutler Lab

Gene Symbol

Slc35f5

Ensembl Gene

ENSMUSG00000026342

Gene Name

solute carrier family 35, member F5

Synonyms

1300003P13Rik

MMRRC Submission

045452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R7368 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125488332-125523557 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125512256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 352 (V352E)

Ref Sequence

ENSEMBL: ENSMUSP00000027580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027580]

AlphaFold

Q8R314

Predicted Effect

probably damaging
Transcript: ENSMUST00000027580
AA Change: V352E

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

SMART Domains

Protein: ENSMUSP00000027580
Gene: ENSMUSG00000026342
AA Change: V352E

Domain	Start	End	E-Value	Type
low complexity region	8	27	N/A	INTRINSIC
transmembrane domain	69	86	N/A	INTRINSIC
transmembrane domain	101	120	N/A	INTRINSIC
Pfam:EamA	226	317	2.1e-8	PFAM
transmembrane domain	329	348	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	397	419	N/A	INTRINSIC
transmembrane domain	421	443	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

Meta Mutation Damage Score

0.5259

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	A	T	12: 84,659,639 (GRCm39)	F153I	possibly damaging	Het
Adcy1	G	A	11: 7,094,765 (GRCm39)	V564I	probably damaging	Het
Apol9b	T	C	15: 77,620,134 (GRCm39)	I310T	possibly damaging	Het
Arhgef28	C	A	13: 98,133,370 (GRCm39)	V366F	probably benign	Het
B020004C17Rik	C	T	14: 57,254,773 (GRCm39)	T199I	possibly damaging	Het
Carmil2	C	T	8: 106,417,467 (GRCm39)	T575I	possibly damaging	Het
Catsper1	A	T	19: 5,386,691 (GRCm39)	Q308L	unknown	Het
Cpa2	T	A	6: 30,551,989 (GRCm39)	S239T	probably damaging	Het
Cyrib	A	T	15: 63,810,507 (GRCm39)		probably null	Het
Ddit3	G	A	10: 127,131,776 (GRCm39)	G108D	probably damaging	Het
Dnah3	T	C	7: 119,628,239 (GRCm39)	I1473V	probably benign	Het
Dscam	A	G	16: 96,445,131 (GRCm39)	V1520A	probably benign	Het
Edc4	TAGTAGCAGCAGCAGTAGCAGCAGCAG	TAGTAGCAGCAGCAG	8: 106,615,037 (GRCm39)		probably benign	Het
Ednrb	T	A	14: 104,057,453 (GRCm39)	I370F	probably benign	Het
Ehd3	A	G	17: 74,134,457 (GRCm39)	E272G	possibly damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fkbp11	T	C	15: 98,622,307 (GRCm39)	K189E	unknown	Het
Frem1	T	A	4: 82,884,381 (GRCm39)	E1190D	probably benign	Het
Gabrg2	A	C	11: 41,867,390 (GRCm39)	Y76*	probably null	Het
Gm11437	T	A	11: 84,058,298 (GRCm39)		probably benign	Het
Gm8947	C	A	1: 151,068,847 (GRCm39)	Q227K	probably benign	Het
Gm9195	A	G	14: 72,717,496 (GRCm39)	F279S	probably damaging	Het
Gpbp1l1	T	C	4: 116,430,655 (GRCm39)	I42T	probably benign	Het
Hdac5	A	T	11: 102,088,207 (GRCm39)	V939E	probably null	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kitl	A	T	10: 99,851,943 (GRCm39)	I21F	probably benign	Het
Krt1	T	C	15: 101,755,307 (GRCm39)	D484G	probably damaging	Het
Larp1	C	A	11: 57,938,904 (GRCm39)	P527T	probably damaging	Het
Lrp5	A	G	19: 3,670,085 (GRCm39)	V673A	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mmp27	G	A	9: 7,577,318 (GRCm39)	V228M	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	G	T	11: 60,381,741 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,424,384 (GRCm39)	K26E	possibly damaging	Het
Nek1	T	A	8: 61,542,741 (GRCm39)	I777N	probably benign	Het
Nlrc5	C	T	8: 95,203,021 (GRCm39)	R374*	probably null	Het
Nol8	T	C	13: 49,814,695 (GRCm39)	S268P	probably benign	Het
Nynrin	T	A	14: 56,107,968 (GRCm39)	L1025Q	probably damaging	Het
Or8h9	A	G	2: 86,789,602 (GRCm39)	S67P	probably damaging	Het
Osbpl3	A	T	6: 50,325,078 (GRCm39)	L140H	probably damaging	Het
Pcnt	T	C	10: 76,235,835 (GRCm39)	N1382S	probably benign	Het
Pef1	T	A	4: 130,021,178 (GRCm39)	L244*	probably null	Het
Phf11a	T	C	14: 59,518,174 (GRCm39)	E191G	probably benign	Het
Polr3a	A	T	14: 24,517,144 (GRCm39)	D702E	probably damaging	Het
Ptch1	C	T	13: 63,659,798 (GRCm39)	G1285D	probably benign	Het
Ptpn3	T	C	4: 57,221,993 (GRCm39)	D566G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Scgb1b12	T	C	7: 32,033,992 (GRCm39)	I84T	probably damaging	Het
Sh2b1	A	T	7: 126,067,685 (GRCm39)	D618E	possibly damaging	Het
Sppl2c	A	G	11: 104,078,430 (GRCm39)	E410G	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stra6	G	A	9: 58,058,543 (GRCm39)	R468Q	probably benign	Het
Taf3	T	C	2: 9,921,188 (GRCm39)	H924R	unknown	Het
Tbx18	C	A	9: 87,612,750 (GRCm39)	V50L	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Unc45b	C	T	11: 82,833,321 (GRCm39)	T845I	probably benign	Het
Usp15	T	C	10: 123,032,798 (GRCm39)	D8G	possibly damaging	Het
Vmn2r91	A	G	17: 18,356,540 (GRCm39)	I736V	possibly damaging	Het
Vps13c	C	A	9: 67,821,355 (GRCm39)	D1288E	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	Het
Zfp638	A	G	6: 83,906,437 (GRCm39)	N201D	possibly damaging	Het

Other mutations in Slc35f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc35f5	APN	1	125,515,161 (GRCm39)	missense	probably damaging	1.00
IGL01844:Slc35f5	APN	1	125,517,612 (GRCm39)	missense	probably damaging	0.96
IGL02218:Slc35f5	APN	1	125,512,292 (GRCm39)	missense	probably damaging	1.00
IGL02586:Slc35f5	APN	1	125,512,273 (GRCm39)	missense	probably damaging	1.00
IGL03000:Slc35f5	APN	1	125,502,479 (GRCm39)	missense	probably damaging	1.00
IGL03160:Slc35f5	APN	1	125,502,472 (GRCm39)	missense	probably damaging	1.00
IGL03181:Slc35f5	APN	1	125,512,922 (GRCm39)	missense	probably damaging	1.00
IGL02984:Slc35f5	UTSW	1	125,490,250 (GRCm39)	missense	probably benign	0.28
R0127:Slc35f5	UTSW	1	125,503,942 (GRCm39)	missense	probably damaging	1.00
R0390:Slc35f5	UTSW	1	125,512,832 (GRCm39)	missense	probably damaging	1.00
R0513:Slc35f5	UTSW	1	125,503,906 (GRCm39)	splice site	probably benign
R1701:Slc35f5	UTSW	1	125,498,330 (GRCm39)	missense	possibly damaging	0.77
R1716:Slc35f5	UTSW	1	125,512,269 (GRCm39)	missense	possibly damaging	0.65
R2211:Slc35f5	UTSW	1	125,507,001 (GRCm39)	missense	possibly damaging	0.74
R3024:Slc35f5	UTSW	1	125,496,335 (GRCm39)	missense	probably benign	0.00
R3870:Slc35f5	UTSW	1	125,490,098 (GRCm39)	missense	probably benign	0.00
R4239:Slc35f5	UTSW	1	125,500,211 (GRCm39)	missense	possibly damaging	0.94
R4547:Slc35f5	UTSW	1	125,500,119 (GRCm39)	missense	probably benign	0.00
R5622:Slc35f5	UTSW	1	125,517,693 (GRCm39)	missense	probably damaging	1.00
R5688:Slc35f5	UTSW	1	125,518,775 (GRCm39)	missense	probably benign	0.23
R5876:Slc35f5	UTSW	1	125,515,100 (GRCm39)	critical splice acceptor site	probably null
R6701:Slc35f5	UTSW	1	125,490,347 (GRCm39)	missense	probably damaging	1.00
R7292:Slc35f5	UTSW	1	125,500,222 (GRCm39)	missense	probably damaging	0.99
R7530:Slc35f5	UTSW	1	125,512,275 (GRCm39)	missense	probably damaging	1.00
R7807:Slc35f5	UTSW	1	125,512,278 (GRCm39)	missense	probably damaging	1.00
R8004:Slc35f5	UTSW	1	125,517,624 (GRCm39)	missense	probably damaging	0.98
R8289:Slc35f5	UTSW	1	125,490,252 (GRCm39)	nonsense	probably null
R8435:Slc35f5	UTSW	1	125,488,994 (GRCm39)	nonsense	probably null
R9011:Slc35f5	UTSW	1	125,490,050 (GRCm39)	missense	probably benign	0.03
R9339:Slc35f5	UTSW	1	125,517,628 (GRCm39)	missense	probably benign	0.34
R9365:Slc35f5	UTSW	1	125,496,333 (GRCm39)	missense	probably benign	0.08
Z1177:Slc35f5	UTSW	1	125,512,971 (GRCm39)	critical splice donor site	probably null
Z1177:Slc35f5	UTSW	1	125,488,442 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCTCCAAGGCAAATGCTTTTG -3'
(R):5'- GCACTGGTAACTGGTAACTGC -3'

Sequencing Primer
(F):5'- TACCCTGCTGGAGGATCTG -3'
(R):5'- TAGGACCCACTAGCCAGTTAGTCTG -3'

Posted On

2019-09-13