Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Slc5a6'

448494

Institutional Source

Beutler Lab

Gene Symbol

Slc5a6

Ensembl Gene

ENSMUSG00000006641

Gene Name

solute carrier family 5 (sodium-dependent vitamin transporter), member 6

Synonyms

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31193380-31206268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31198114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 254 (T254A)

Ref Sequence

ENSEMBL: ENSMUSP00000143993 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080431] [ENSMUST00000114668] [ENSMUST00000200816] [ENSMUST00000202520] [ENSMUST00000202556] [ENSMUST00000202984]

AlphaFold

Q5U4D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000006817
AA Change: T254A

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

SMART Domains

Protein: ENSMUSP00000006817
Gene: ENSMUSG00000006641
AA Change: T254A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000080431
AA Change: T254A

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

SMART Domains

Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: T254A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114668
AA Change: T254A

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

SMART Domains

Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: T254A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200816

SMART Domains

Protein: ENSMUSP00000144665
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201017

Predicted Effect

probably damaging
Transcript: ENSMUST00000202520
AA Change: T254A

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

SMART Domains

Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: T254A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202556
AA Change: T254A

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

SMART Domains

Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: T254A

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202984

SMART Domains

Protein: ENSMUSP00000144349
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
Pfam:SSF	2	104	6.3e-15	PFAM
transmembrane domain	158	180	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Mdm1	A	T	10: 118,002,563 (GRCm39)	H628L	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	probably damaging	Het

Other mutations in Slc5a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Slc5a6	APN	5	31,196,279 (GRCm39)	unclassified	probably benign
IGL02305:Slc5a6	APN	5	31,195,179 (GRCm39)	missense	probably benign	0.01
IGL02457:Slc5a6	APN	5	31,198,002 (GRCm39)	missense	probably damaging	1.00
IGL02691:Slc5a6	APN	5	31,199,518 (GRCm39)	missense	probably damaging	0.99
IGL02737:Slc5a6	APN	5	31,194,511 (GRCm39)	missense	probably benign	0.01
IGL03277:Slc5a6	APN	5	31,195,372 (GRCm39)	missense	possibly damaging	0.90
IGL03389:Slc5a6	APN	5	31,194,821 (GRCm39)	missense	probably damaging	1.00
Burke	UTSW	5	31,194,228 (GRCm39)	nonsense	probably null
whig	UTSW	5	31,194,155 (GRCm39)	missense	probably damaging	1.00
F5770:Slc5a6	UTSW	5	31,199,957 (GRCm39)	splice site	probably null
R1177:Slc5a6	UTSW	5	31,196,646 (GRCm39)	critical splice donor site	probably null
R1505:Slc5a6	UTSW	5	31,194,455 (GRCm39)	missense	probably benign	0.00
R1680:Slc5a6	UTSW	5	31,199,988 (GRCm39)	missense	probably damaging	1.00
R1800:Slc5a6	UTSW	5	31,198,020 (GRCm39)	nonsense	probably null
R1881:Slc5a6	UTSW	5	31,194,155 (GRCm39)	missense	probably damaging	1.00
R2216:Slc5a6	UTSW	5	31,196,679 (GRCm39)	missense	possibly damaging	0.77
R3803:Slc5a6	UTSW	5	31,200,295 (GRCm39)	missense	probably damaging	1.00
R4250:Slc5a6	UTSW	5	31,195,062 (GRCm39)	missense	probably benign	0.00
R4765:Slc5a6	UTSW	5	31,195,427 (GRCm39)	missense	possibly damaging	0.85
R4821:Slc5a6	UTSW	5	31,194,228 (GRCm39)	nonsense	probably null
R5187:Slc5a6	UTSW	5	31,200,322 (GRCm39)	missense	probably damaging	1.00
R5536:Slc5a6	UTSW	5	31,200,446 (GRCm39)	missense	probably damaging	1.00
R5554:Slc5a6	UTSW	5	31,195,444 (GRCm39)	missense	probably damaging	0.98
R6035:Slc5a6	UTSW	5	31,206,168 (GRCm39)	unclassified	probably benign
R6035:Slc5a6	UTSW	5	31,206,168 (GRCm39)	unclassified	probably benign
R6615:Slc5a6	UTSW	5	31,194,174 (GRCm39)	missense	probably benign
R6621:Slc5a6	UTSW	5	31,198,122 (GRCm39)	missense	probably damaging	0.98
R6983:Slc5a6	UTSW	5	31,197,749 (GRCm39)	missense	probably benign
R7989:Slc5a6	UTSW	5	31,199,480 (GRCm39)	critical splice donor site	probably null
R8433:Slc5a6	UTSW	5	31,194,806 (GRCm39)	missense	possibly damaging	0.54
R9180:Slc5a6	UTSW	5	31,195,190 (GRCm39)	missense	probably damaging	0.97
R9390:Slc5a6	UTSW	5	31,197,803 (GRCm39)	missense	possibly damaging	0.65
R9628:Slc5a6	UTSW	5	31,197,746 (GRCm39)	missense	probably benign	0.00
V7581:Slc5a6	UTSW	5	31,199,957 (GRCm39)	splice site	probably null
X0022:Slc5a6	UTSW	5	31,200,682 (GRCm39)	start codon destroyed	probably null	0.97
Z1176:Slc5a6	UTSW	5	31,195,369 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCGGAAAGTCCCCAGTAAG -3'
(R):5'- AGGGTTGGGAAAATGGAATCTTCTC -3'

Sequencing Primer
(F):5'- TGAGAAGCCTGAACCCCGTC -3'
(R):5'- GGGAAAATGGAATCTTCTCTCCAAC -3'

Posted On

2016-12-15