Mutagenetix > Incidental Mutation

Incidental Mutation 'R4944:Slc5a3'

383375

Institutional Source

Beutler Lab

Gene Symbol

Slc5a3

Ensembl Gene

ENSMUSG00000089774

Gene Name

solute carrier family 5 (inositol transporters), member 3

Synonyms

Smit1

MMRRC Submission

042541-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91855210-91884361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91875571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 543 (T543A)

Ref Sequence

ENSEMBL: ENSMUSP00000109608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047429] [ENSMUST00000113975] [ENSMUST00000131098] [ENSMUST00000232677]

AlphaFold

Q9JKZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000047429

SMART Domains

Protein: ENSMUSP00000037631
Gene: ENSMUSG00000039680

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S6	3	95	7.2e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113975
AA Change: T543A

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: T543A

Domain	Start	End	E-Value	Type
Pfam:SSF	39	477	1.3e-163	PFAM
transmembrane domain	511	533	N/A	INTRINSIC
low complexity region	665	675	N/A	INTRINSIC
transmembrane domain	696	715	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131098

SMART Domains

Protein: ENSMUSP00000139098
Gene: ENSMUSG00000089774

Domain	Start	End	E-Value	Type
Pfam:SSF	1	142	3.4e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232222

Predicted Effect

probably benign
Transcript: ENSMUST00000232677

Meta Mutation Damage Score

0.0901

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after birth due to respiratory failure and abnormal development of peripheral nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	A	5: 8,984,327 (GRCm39)		probably null	Het
Angptl7	C	G	4: 148,584,534 (GRCm39)	Q71H	probably damaging	Het
Arhgap30	A	T	1: 171,229,822 (GRCm39)	N176Y	probably damaging	Het
Armc9	T	A	1: 86,202,256 (GRCm39)	S805T	probably damaging	Het
Atxn1	T	G	13: 45,720,407 (GRCm39)	H496P	probably damaging	Het
Cabin1	C	T	10: 75,557,197 (GRCm39)	G1147D	probably damaging	Het
Cabin1	A	G	10: 75,575,255 (GRCm39)	S597P	probably damaging	Het
Catsperd	T	C	17: 56,969,744 (GRCm39)	S613P	probably damaging	Het
Cdh2	A	G	18: 16,783,466 (GRCm39)	Y88H	probably damaging	Het
Cntn1	C	A	15: 92,126,549 (GRCm39)	P47Q	probably damaging	Het
Col11a2	T	C	17: 34,261,164 (GRCm39)	L38P	possibly damaging	Het
Col5a2	T	G	1: 45,415,855 (GRCm39)	I1431L	possibly damaging	Het
Csmd1	C	T	8: 16,048,772 (GRCm39)	G2310D	probably damaging	Het
Dhcr7	T	A	7: 143,391,528 (GRCm39)	I39N	probably damaging	Het
Dnajc13	C	T	9: 104,044,586 (GRCm39)		probably benign	Het
Drgx	G	T	14: 32,330,206 (GRCm39)	Q136H	probably damaging	Het
Folr2	T	C	7: 101,489,497 (GRCm39)		probably null	Het
Galnt11	T	C	5: 25,470,336 (GRCm39)	I595T	probably damaging	Het
Gp5	G	A	16: 30,128,326 (GRCm39)	A116V	possibly damaging	Het
Gpn3	T	C	5: 122,520,303 (GRCm39)		probably benign	Het
Gprin3	T	C	6: 59,331,644 (GRCm39)	N221S	probably benign	Het
Hfm1	T	C	5: 107,022,079 (GRCm39)	E989G	possibly damaging	Het
Ints1	T	C	5: 139,743,847 (GRCm39)		probably null	Het
Josd2	T	C	7: 44,120,592 (GRCm39)	S110P	probably damaging	Het
Kat14	C	A	2: 144,217,873 (GRCm39)	T123K	probably damaging	Het
Lamtor1	C	T	7: 101,558,971 (GRCm39)	T48I	probably damaging	Het
Lrrc24	A	G	15: 76,602,546 (GRCm39)	L113P	probably damaging	Het
Lrrc37	T	C	11: 103,504,286 (GRCm39)	T2561A	possibly damaging	Het
Mog	T	C	17: 37,331,433 (GRCm39)	E89G	probably damaging	Het
Mon2	A	G	10: 122,874,364 (GRCm39)		probably null	Het
Mtx1	T	C	3: 89,121,205 (GRCm39)	Y143C	probably benign	Het
Nacad	T	C	11: 6,548,507 (GRCm39)	E1409G	possibly damaging	Het
Ndst3	T	C	3: 123,400,676 (GRCm39)	H410R	probably damaging	Het
Nkx6-2	T	C	7: 139,161,486 (GRCm39)	E233G	possibly damaging	Het
Oas1h	A	G	5: 121,000,846 (GRCm39)	E152G	probably damaging	Het
Or8g22	A	G	9: 38,958,158 (GRCm39)	S186P	probably damaging	Het
Ovgp1	T	C	3: 105,887,269 (GRCm39)	F222L	possibly damaging	Het
Pkhd1	T	C	1: 20,358,429 (GRCm39)	S2716G	probably null	Het
Pla2g4e	T	C	2: 120,001,718 (GRCm39)	T644A	probably benign	Het
Plxnd1	A	G	6: 115,932,726 (GRCm39)	I1918T	probably damaging	Het
Psmg1	A	T	16: 95,790,812 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,047,136 (GRCm39)	R364C	probably damaging	Het
Rgs22	T	C	15: 36,026,088 (GRCm39)	I945V	possibly damaging	Het
Rgs7bp	T	C	13: 105,088,072 (GRCm39)	N234S	probably benign	Het
Rrp7a	T	C	15: 83,004,010 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,414,193 (GRCm39)	R177*	probably null	Het
Sema4c	C	A	1: 36,589,392 (GRCm39)	C578F	probably damaging	Het
Slc1a5	T	A	7: 16,531,668 (GRCm39)		probably benign	Het
Slx4ip	T	A	2: 136,888,687 (GRCm39)	F123I	probably benign	Het
Smtn	C	T	11: 3,472,916 (GRCm39)	R737H	probably damaging	Het
Stox2	A	G	8: 47,866,300 (GRCm39)	I14T	possibly damaging	Het
Stradb	T	C	1: 59,019,599 (GRCm39)	F43L	probably benign	Het
Szt2	T	C	4: 118,245,866 (GRCm39)	D1029G	probably benign	Het
Taar6	T	C	10: 23,860,613 (GRCm39)	Y311C	probably damaging	Het
Tcea3	A	T	4: 135,995,404 (GRCm39)	N249I	probably damaging	Het
Tecta	A	G	9: 42,241,573 (GRCm39)	M2134T	probably benign	Het
Tg	G	A	15: 66,636,186 (GRCm39)	G591D	probably damaging	Het
Tm4sf20	T	A	1: 82,746,084 (GRCm39)	I19F	probably benign	Het
Top2a	T	C	11: 98,888,676 (GRCm39)	K1262E	probably benign	Het
Ube2r2	A	G	4: 41,190,742 (GRCm39)		probably benign	Het
Usp29	T	C	7: 6,964,927 (GRCm39)	S257P	possibly damaging	Het
Usp40	T	C	1: 87,880,077 (GRCm39)	N1038S	probably benign	Het
Utp25	A	T	1: 192,797,262 (GRCm39)	M530K	probably damaging	Het
Vmn1r121	C	T	7: 20,831,538 (GRCm39)	E301K	probably benign	Het
Vmn2r49	T	A	7: 9,722,959 (GRCm39)	H105L	probably benign	Het
Zgrf1	C	T	3: 127,355,517 (GRCm39)	Q248*	probably null	Het

Other mutations in Slc5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Slc5a3	APN	16	91,874,519 (GRCm39)	missense	probably damaging	1.00
IGL01100:Slc5a3	APN	16	91,876,110 (GRCm39)	intron	probably benign
IGL01374:Slc5a3	APN	16	91,874,006 (GRCm39)	missense	probably benign	0.03
IGL01566:Slc5a3	APN	16	91,874,465 (GRCm39)	missense	probably damaging	0.99
IGL01615:Slc5a3	APN	16	91,876,000 (GRCm39)	nonsense	probably null
IGL02489:Slc5a3	APN	16	91,874,593 (GRCm39)	missense	possibly damaging	0.78
IGL03329:Slc5a3	APN	16	91,874,348 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Slc5a3	UTSW	16	91,874,702 (GRCm39)	missense	probably benign
R0054:Slc5a3	UTSW	16	91,874,522 (GRCm39)	missense	probably damaging	1.00
R0054:Slc5a3	UTSW	16	91,874,522 (GRCm39)	missense	probably damaging	1.00
R0166:Slc5a3	UTSW	16	91,874,581 (GRCm39)	missense	possibly damaging	0.73
R1022:Slc5a3	UTSW	16	91,874,383 (GRCm39)	missense	probably damaging	1.00
R1024:Slc5a3	UTSW	16	91,874,383 (GRCm39)	missense	probably damaging	1.00
R1102:Slc5a3	UTSW	16	91,874,765 (GRCm39)	missense	probably damaging	1.00
R1635:Slc5a3	UTSW	16	91,874,284 (GRCm39)	missense	possibly damaging	0.89
R1777:Slc5a3	UTSW	16	91,874,644 (GRCm39)	missense	probably benign	0.00
R1955:Slc5a3	UTSW	16	91,874,762 (GRCm39)	missense	possibly damaging	0.46
R2068:Slc5a3	UTSW	16	91,874,128 (GRCm39)	missense	probably damaging	1.00
R3787:Slc5a3	UTSW	16	91,874,816 (GRCm39)	missense	possibly damaging	0.82
R4152:Slc5a3	UTSW	16	91,874,696 (GRCm39)	nonsense	probably null
R4651:Slc5a3	UTSW	16	91,874,090 (GRCm39)	missense	probably benign	0.26
R5008:Slc5a3	UTSW	16	91,874,169 (GRCm39)	missense	probably damaging	0.96
R6058:Slc5a3	UTSW	16	91,875,963 (GRCm39)	missense	probably benign	0.00
R7459:Slc5a3	UTSW	16	91,875,905 (GRCm39)	missense	probably benign
R7544:Slc5a3	UTSW	16	91,874,682 (GRCm39)	missense	probably benign	0.00
R7843:Slc5a3	UTSW	16	91,875,907 (GRCm39)	missense	probably benign
R9432:Slc5a3	UTSW	16	91,874,615 (GRCm39)	missense	probably benign	0.00
R9501:Slc5a3	UTSW	16	91,875,257 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGGCTTTTACCTACCGTG -3'
(R):5'- AATGACCCATGGAAGCCACTG -3'

Sequencing Primer
(F):5'- GCTCCTGAGTGTGATCAACCTG -3'
(R):5'- CCAGCAGATTAACGTCTTCAGGTTG -3'

Posted On

2016-04-27