Mutagenetix > Incidental Mutation

Incidental Mutation 'R1635:Slc5a3'

173120

Institutional Source

Beutler Lab

Gene Symbol

Slc5a3

Ensembl Gene

ENSMUSG00000089774

Gene Name

solute carrier family 5 (inositol transporters), member 3

Synonyms

Smit1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1635 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91855210-91884361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91874284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 114 (S114P)

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: S114P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: S114P

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.9%

Validation Efficiency

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,334,868 (GRCm39)	I1947F	probably benign	Het
Adgrd1	G	T	5: 129,205,971 (GRCm39)	V182F	probably damaging	Het
Agmat	A	G	4: 141,474,380 (GRCm39)	D87G	probably damaging	Het
AI182371	T	C	2: 34,978,749 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,470,452 (GRCm39)	H1559Q	probably damaging	Het
Ankar	T	C	1: 72,689,297 (GRCm39)	Y1278C	probably damaging	Het
Arhgef2	A	T	3: 88,546,628 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Banp	A	T	8: 122,727,750 (GRCm39)	I130F	probably damaging	Het
C130050O18Rik	G	T	5: 139,400,248 (GRCm39)	R100S	probably benign	Het
Carmil3	A	G	14: 55,733,739 (GRCm39)	T374A	possibly damaging	Het
Cc2d2a	T	A	5: 43,879,812 (GRCm39)	W1076R	probably damaging	Het
Cdc34	T	G	10: 79,523,888 (GRCm39)	S235A	probably benign	Het
Cdh8	G	T	8: 99,757,656 (GRCm39)	H647Q	probably damaging	Het
Cdk1	A	T	10: 69,174,377 (GRCm39)	L282Q	probably damaging	Het
Ceacam3	A	G	7: 16,893,902 (GRCm39)	D471G	probably damaging	Het
Ciao2b	A	T	8: 105,367,620 (GRCm39)	I108N	possibly damaging	Het
Cltc	A	T	11: 86,648,105 (GRCm39)	I4N	probably benign	Het
Cntfr	T	A	4: 41,658,816 (GRCm39)	E305V	probably damaging	Het
Cwh43	T	A	5: 73,591,653 (GRCm39)	I496N	probably damaging	Het
Cyp2f2	A	G	7: 26,829,149 (GRCm39)	N218S	probably benign	Het
D16Ertd472e	A	G	16: 78,343,392 (GRCm39)		probably null	Het
Dab2	A	G	15: 6,459,351 (GRCm39)	Q400R	possibly damaging	Het
Dapl1	A	T	2: 59,326,906 (GRCm39)	I51F	probably benign	Het
Drc7	G	A	8: 95,800,960 (GRCm39)		probably null	Het
Etl4	A	G	2: 20,811,219 (GRCm39)	T1101A	probably damaging	Het
Fam83c	C	A	2: 155,671,971 (GRCm39)	R488M	possibly damaging	Het
Fbxo42	A	G	4: 140,927,840 (GRCm39)	T707A	probably damaging	Het
Fcmr	A	T	1: 130,803,922 (GRCm39)		probably null	Het
Fer1l6	G	C	15: 58,518,930 (GRCm39)	K1687N	probably damaging	Het
Fgd4	G	A	16: 16,292,893 (GRCm39)	R275*	probably null	Het
Fxr2	G	A	11: 69,532,139 (GRCm39)	C87Y	possibly damaging	Het
Gja4	A	T	4: 127,206,472 (GRCm39)	I97N	probably damaging	Het
Gm136	A	G	4: 34,750,919 (GRCm39)		probably null	Het
Gm14496	A	G	2: 181,642,837 (GRCm39)	D836G	possibly damaging	Het
Grm3	T	A	5: 9,561,520 (GRCm39)	T777S	probably damaging	Het
Guca2b	A	G	4: 119,514,912 (GRCm39)	Y50H	probably damaging	Het
Herc2	C	T	7: 55,786,415 (GRCm39)	P1587S	probably benign	Het
Hmcn1	C	T	1: 150,545,309 (GRCm39)	S2766N	probably benign	Het
Idi2	T	A	13: 9,009,455 (GRCm39)	I224K	probably damaging	Het
Kmt2a	A	T	9: 44,735,666 (GRCm39)		probably benign	Het
Lonp2	A	T	8: 87,440,078 (GRCm39)	M693L	possibly damaging	Het
Megf8	G	T	7: 25,046,172 (GRCm39)	M1525I	possibly damaging	Het
Mgme1	T	C	2: 144,121,018 (GRCm39)	V276A	possibly damaging	Het
Mief2	G	T	11: 60,622,234 (GRCm39)	W268L	probably damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mreg	T	C	1: 72,231,356 (GRCm39)	N34S	probably benign	Het
Myf6	T	C	10: 107,330,534 (GRCm39)	Y11C	probably damaging	Het
Myh9	C	A	15: 77,655,367 (GRCm39)	Q1196H	probably benign	Het
Myh9	A	T	15: 77,660,099 (GRCm39)	D56E	probably benign	Het
Myo5c	A	T	9: 75,184,357 (GRCm39)	R949S	probably benign	Het
Ncapg2	TAA	TA	12: 116,398,305 (GRCm39)		probably null	Het
Nfx1	T	A	4: 40,977,004 (GRCm39)	V226E	probably benign	Het
Nlrp10	T	A	7: 108,523,737 (GRCm39)	K581M	possibly damaging	Het
Nmd3	T	G	3: 69,647,317 (GRCm39)	I273S	probably benign	Het
Or4c3	A	T	2: 89,852,314 (GRCm39)	I32N	possibly damaging	Het
P4hb	T	C	11: 120,462,442 (GRCm39)	E88G	probably damaging	Het
Pcnx3	A	T	19: 5,715,773 (GRCm39)	H1444Q	probably benign	Het
Pdia4	A	T	6: 47,776,133 (GRCm39)	F421L	possibly damaging	Het
Picalm	T	A	7: 89,840,459 (GRCm39)	S538T	probably damaging	Het
Ppp2r2b	T	A	18: 43,192,275 (GRCm39)	I11F	probably benign	Het
Prb1c	A	G	6: 132,339,969 (GRCm39)		probably null	Het
Ptk7	C	T	17: 46,884,460 (GRCm39)	E757K	possibly damaging	Het
Rbm22	T	G	18: 60,694,340 (GRCm39)	C24W	probably damaging	Het
Rev3l	A	G	10: 39,682,658 (GRCm39)	D288G	probably damaging	Het
Rgs18	T	A	1: 144,629,791 (GRCm39)	H156L	probably benign	Het
Rnf213	A	G	11: 119,333,405 (GRCm39)	I2871M	probably damaging	Het
Rrm2b	A	T	15: 37,945,328 (GRCm39)	M137K	probably damaging	Het
Rrp12	A	T	19: 41,857,224 (GRCm39)	D1183E	probably benign	Het
Sacs	G	A	14: 61,441,277 (GRCm39)	V1108M	probably damaging	Het
Scube2	A	T	7: 109,442,421 (GRCm39)	D270E	possibly damaging	Het
Serpina3a	T	A	12: 104,082,737 (GRCm39)	F170Y	probably damaging	Het
Serpinb3b	T	C	1: 107,082,403 (GRCm39)	E287G	probably benign	Het
Slamf8	C	T	1: 172,412,186 (GRCm39)	V130M	probably damaging	Het
Sos1	T	A	17: 80,730,108 (GRCm39)		probably null	Het
Sox10	A	T	15: 79,040,660 (GRCm39)	D293E	probably damaging	Het
Sphk1	A	G	11: 116,426,596 (GRCm39)	D177G	probably damaging	Het
Sphkap	T	G	1: 83,256,121 (GRCm39)	M543L	probably benign	Het
Syt13	A	T	2: 92,783,760 (GRCm39)	K343N	probably damaging	Het
Tatdn3	A	G	1: 190,792,373 (GRCm39)	M34T	probably benign	Het
Timd4	T	G	11: 46,732,989 (GRCm39)	V305G	possibly damaging	Het
Tnnc2	T	C	2: 164,619,512 (GRCm39)	I111V	probably benign	Het
Togaram2	C	T	17: 72,004,846 (GRCm39)	P301L	probably benign	Het
Trpc3	T	C	3: 36,694,776 (GRCm39)	N726S	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ugt1a5	T	A	1: 88,093,805 (GRCm39)		probably benign	Het
Ulk3	A	T	9: 57,500,443 (GRCm39)		probably null	Het
Unc5d	T	A	8: 29,250,777 (GRCm39)	I297L	probably benign	Het
Usp20	A	G	2: 30,908,830 (GRCm39)	I804V	probably benign	Het
Usp22	G	T	11: 61,052,144 (GRCm39)	C278*	probably null	Het
Usp53	A	T	3: 122,727,872 (GRCm39)	N903K	probably benign	Het
V1rd19	T	C	7: 23,702,812 (GRCm39)	F93L	probably benign	Het
Zdbf2	T	A	1: 63,343,493 (GRCm39)	V624E	possibly damaging	Het
Zfyve16	A	T	13: 92,645,528 (GRCm39)	S1073T	probably damaging	Het
Zkscan8	T	C	13: 21,710,765 (GRCm39)	H115R	possibly damaging	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
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
R4944:Slc5a3	UTSW	16	91,875,571 (GRCm39)	missense	possibly damaging	0.67
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'- GGGAGTGAACACTTCATTGGGCTG -3'
(R):5'- GCATTCGCCTTAGGATGGACCATAC -3'

Sequencing Primer
(F):5'- ACTTCATTGGGCTGGCAGG -3'
(R):5'- CTGTGTAGATCACTGCAACAAG -3'

Posted On

2014-04-24