Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Slc28a1'

483842

Institutional Source

Beutler Lab

Gene Symbol

Slc28a1

Ensembl Gene

ENSMUSG00000025726

Gene Name

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

Synonyms

Cnt1

MMRRC Submission

044227-MU

Accession Numbers

Essential gene?

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

Stock #

R6062 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80764547-80820164 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 80765311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 9 (R9*)

Ref Sequence

ENSEMBL: ENSMUSP00000112421 (fasta)

Gene Model

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

AlphaFold

E9PXX9

Predicted Effect

probably null
Transcript: ENSMUST00000026820
AA Change: R9*

SMART Domains

Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: R9*

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 null
Transcript: ENSMUST00000119083
AA Change: R9*

SMART Domains

Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: R9*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly damaging	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
IGL02836:Slc28a1	APN	7	80,775,909 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTTGGAGCTTACAAGGAC -3'
(R):5'- CCACCTAGTGAGATGCCAATC -3'

Sequencing Primer
(F):5'- GGAGCTTACAAGGACTTGCATCTC -3'
(R):5'- CCTAGTGAGATGCCAATCAAGCTG -3'

Posted On

2017-07-14