Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Slc28a1'

361653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc28a1

Ensembl Gene

ENSMUSG00000025726

Gene Name

solute carrier family 28 (sodium-coupled nucleoside transporter), member 1

Synonyms

Cnt1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

80764547-80820164 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80775909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 202 (V202M)

Ref Sequence

ENSEMBL: ENSMUSP00000112421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026820] [ENSMUST00000119083]

AlphaFold

E9PXX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000026820
AA Change: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: V202M

Domain	Start	End	E-Value	Type
transmembrane domain	82	104	N/A	INTRINSIC
transmembrane domain	109	128	N/A	INTRINSIC
transmembrane domain	149	168	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	183	257	1e-24	PFAM
Pfam:Gate	263	392	5.5e-10	PFAM
Pfam:Nucleos_tra2_C	366	591	4e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119083
AA Change: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: V202M

Domain	Start	End	E-Value	Type
transmembrane domain	82	104	N/A	INTRINSIC
transmembrane domain	109	128	N/A	INTRINSIC
transmembrane domain	149	168	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	183	256	4.8e-27	PFAM
Pfam:Gate	263	364	1.1e-9	PFAM
Pfam:Nucleos_tra2_C	366	590	9.2e-76	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abca8a	T	C	11: 109,961,177 (GRCm39)	K582E	possibly damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Slc28a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Slc28a1	APN	7	80,818,816 (GRCm39)	splice site	probably benign
IGL01386:Slc28a1	APN	7	80,814,427 (GRCm39)	missense	probably benign	0.01
IGL02586:Slc28a1	APN	7	80,814,167 (GRCm39)	missense	probably benign	0.04
IGL02695:Slc28a1	APN	7	80,817,739 (GRCm39)	missense	probably benign	0.00
7510:Slc28a1	UTSW	7	80,819,017 (GRCm39)	missense	probably benign
R0206:Slc28a1	UTSW	7	80,767,454 (GRCm39)	splice site	probably benign
R0208:Slc28a1	UTSW	7	80,767,454 (GRCm39)	splice site	probably benign
R0379:Slc28a1	UTSW	7	80,787,925 (GRCm39)	missense	probably benign
R0733:Slc28a1	UTSW	7	80,774,648 (GRCm39)	missense	probably benign	0.37
R1435:Slc28a1	UTSW	7	80,803,265 (GRCm39)	missense	probably damaging	1.00
R1827:Slc28a1	UTSW	7	80,787,950 (GRCm39)	missense	possibly damaging	0.85
R1909:Slc28a1	UTSW	7	80,791,783 (GRCm39)	missense	probably damaging	1.00
R1917:Slc28a1	UTSW	7	80,819,334 (GRCm39)	missense	probably benign	0.00
R2147:Slc28a1	UTSW	7	80,776,015 (GRCm39)	missense	possibly damaging	0.94
R3804:Slc28a1	UTSW	7	80,775,969 (GRCm39)	missense	probably damaging	1.00
R4004:Slc28a1	UTSW	7	80,818,786 (GRCm39)	missense	probably damaging	1.00
R4967:Slc28a1	UTSW	7	80,791,757 (GRCm39)	missense	possibly damaging	0.91
R5055:Slc28a1	UTSW	7	80,818,796 (GRCm39)	missense	possibly damaging	0.77
R5256:Slc28a1	UTSW	7	80,771,869 (GRCm39)	missense	probably damaging	0.98
R5494:Slc28a1	UTSW	7	80,817,787 (GRCm39)	missense	probably damaging	1.00
R5924:Slc28a1	UTSW	7	80,765,360 (GRCm39)	missense	probably benign	0.26
R6062:Slc28a1	UTSW	7	80,765,311 (GRCm39)	nonsense	probably null
R6229:Slc28a1	UTSW	7	80,774,753 (GRCm39)	missense	probably benign	0.00
R6737:Slc28a1	UTSW	7	80,818,996 (GRCm39)	missense	probably benign	0.21
R8177:Slc28a1	UTSW	7	80,814,164 (GRCm39)	missense	probably benign	0.05
R8747:Slc28a1	UTSW	7	80,774,719 (GRCm39)	missense	possibly damaging	0.80
R8830:Slc28a1	UTSW	7	80,810,794 (GRCm39)	missense	possibly damaging	0.90
R8930:Slc28a1	UTSW	7	80,817,715 (GRCm39)	missense	probably benign	0.07
R8932:Slc28a1	UTSW	7	80,817,715 (GRCm39)	missense	probably benign	0.07
RF018:Slc28a1	UTSW	7	80,819,032 (GRCm39)	splice site	probably null
X0020:Slc28a1	UTSW	7	80,774,711 (GRCm39)	missense	possibly damaging	0.85
Z1088:Slc28a1	UTSW	7	80,787,916 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18