Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Slc5a6'

188401

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

039716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31193380-31206268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31199988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 131 (Y131H)

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: ENSMUST00000080431
AA Change: Y131H

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

SMART Domains

Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641
AA Change: Y131H

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: Y131H

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

SMART Domains

Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641
AA Change: Y131H

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: Y131H

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

SMART Domains

Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641
AA Change: Y131H

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: Y131H

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

SMART Domains

Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641
AA Change: Y131H

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Ahnak	T	A	19: 8,987,327 (GRCm39)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,655,080 (GRCm39)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,106,521 (GRCm39)	D827V	probably damaging	Het
Bcat1	T	G	6: 144,985,354 (GRCm39)	D96A	probably damaging	Het
Birc6	A	T	17: 74,855,741 (GRCm39)	I184L	probably benign	Het
Clca3b	A	T	3: 144,543,585 (GRCm39)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,728,183 (GRCm39)	V617A	probably benign	Het
Col22a1	G	A	15: 71,671,210 (GRCm39)	A1050V	unknown	Het
Col5a3	C	T	9: 20,695,964 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,604,566 (GRCm39)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 161,838,545 (GRCm39)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,923,361 (GRCm39)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,497,103 (GRCm39)	Y710H	probably benign	Het
Eef1a2	A	T	2: 180,794,734 (GRCm39)	M155K	possibly damaging	Het
Entpd8	G	A	2: 24,974,036 (GRCm39)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,552,722 (GRCm39)	L1072R	probably damaging	Het
Fhip2b	T	C	14: 70,824,291 (GRCm39)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,331,212 (GRCm39)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,699,491 (GRCm39)	S617P	probably damaging	Het
Ice1	T	C	13: 70,753,567 (GRCm39)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,390,953 (GRCm39)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,353,274 (GRCm39)		probably null	Het
Ireb2	C	T	9: 54,788,802 (GRCm39)	T92I	probably damaging	Het
Itprid1	C	T	6: 55,945,751 (GRCm39)	T824I	probably damaging	Het
Kcnj8	A	T	6: 142,515,915 (GRCm39)	L64*	probably null	Het
Mapk8ip3	A	G	17: 25,119,985 (GRCm39)	V983A	probably damaging	Het
Mertk	A	G	2: 128,643,556 (GRCm39)	D985G	probably benign	Het
Mical3	A	T	6: 120,936,604 (GRCm39)	S1307R	probably benign	Het
Mtcl3	A	T	10: 29,072,835 (GRCm39)	Q709L	probably damaging	Het
Ncaph2	A	G	15: 89,248,825 (GRCm39)	D222G	probably benign	Het
Nf1	C	A	11: 79,441,824 (GRCm39)	S295*	probably null	Het
Nlrp12	T	A	7: 3,289,804 (GRCm39)	D236V	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Oasl1	A	G	5: 115,074,003 (GRCm39)	D304G	probably damaging	Het
Or52i2	A	G	7: 102,319,940 (GRCm39)	D271G	possibly damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Or8g22	T	C	9: 38,958,296 (GRCm39)	I140V	probably benign	Het
Or8h8	C	T	2: 86,753,505 (GRCm39)	V124I	probably benign	Het
Patz1	A	G	11: 3,257,812 (GRCm39)	K604E	probably damaging	Het
Pcsk6	T	A	7: 65,684,998 (GRCm39)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,108,231 (GRCm39)		probably null	Het
Plxnc1	A	C	10: 94,677,413 (GRCm39)	L938R	probably benign	Het
Pou4f2	G	T	8: 79,161,460 (GRCm39)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,735,087 (GRCm39)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,690,206 (GRCm39)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,016,703 (GRCm39)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,087,707 (GRCm39)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,682,262 (GRCm39)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc9a1	T	C	4: 133,145,391 (GRCm39)	I492T	probably damaging	Het
Spag5	A	G	11: 78,211,442 (GRCm39)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,109,371 (GRCm39)	I75L	possibly damaging	Het
Syngap1	T	C	17: 27,171,553 (GRCm39)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,335 (GRCm39)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm39)	V102A	probably benign	Het
Tomm70a	T	C	16: 56,942,324 (GRCm39)	S34P	unknown	Het
Txlnb	G	T	10: 17,718,981 (GRCm39)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,683,483 (GRCm39)	T143A	probably benign	Het
Unc80	C	T	1: 66,542,828 (GRCm39)	R361*	probably null	Het
Vcan	T	C	13: 89,851,666 (GRCm39)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,534,806 (GRCm39)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,345,249 (GRCm39)	R6K	probably benign	Het
Zan	T	A	5: 137,401,312 (GRCm39)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,227,898 (GRCm39)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,510,617 (GRCm39)	N433K	probably benign	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
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
R5806:Slc5a6	UTSW	5	31,198,114 (GRCm39)	missense	probably damaging	1.00
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'- TGTCAGTTTGAGAGCAGGGAGACC -3'
(R):5'- GAGCAGAACAGGATGACTTCCCAG -3'

Sequencing Primer
(F):5'- AGAGCAGGGAGACCTCCAC -3'
(R):5'- TGACTTCCCAGTACAGGGATG -3'

Posted On

2014-05-09