Mutagenetix > Incidental Mutation

Incidental Mutation 'R9501:Slc5a3'

717588

Institutional Source

Beutler Lab

Gene Symbol

Slc5a3

Ensembl Gene

ENSMUSG00000089774

Gene Name

solute carrier family 5 (inositol transporters), member 3

Synonyms

Smit1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9501 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91855210-91884361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91875257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 438 (Y438C)

Ref Sequence

ENSEMBL: ENSMUSP00000109608 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000113975
AA Change: Y438C

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

SMART Domains

Protein: ENSMUSP00000109608
Gene: ENSMUSG00000089774
AA Change: Y438C

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

probably benign
Transcript: ENSMUST00000232677

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,214,853 (GRCm39)	V439D	probably damaging	Het
Abcf3	T	C	16: 20,379,125 (GRCm39)	S664P	probably damaging	Het
Anp32a	A	G	9: 62,282,019 (GRCm39)	S202G	unknown	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
AU040320	A	G	4: 126,735,032 (GRCm39)	K782R	probably benign	Het
Bach1	A	G	16: 87,515,999 (GRCm39)	Q180R	probably benign	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Chd2	T	C	7: 73,091,481 (GRCm39)	S1587G	possibly damaging	Het
Chd2	A	T	7: 73,130,294 (GRCm39)	I787N	probably damaging	Het
Chd8	T	A	14: 52,452,045 (GRCm39)	I1317L	probably benign	Het
Clca3a2	C	A	3: 144,777,322 (GRCm39)	E850*	probably null	Het
Clpb	G	A	7: 101,427,780 (GRCm39)	G375D	probably damaging	Het
Cobl	T	A	11: 12,328,235 (GRCm39)	I124F	possibly damaging	Het
Cope	A	G	8: 70,765,363 (GRCm39)	N271S	probably benign	Het
Cyp11b2	T	C	15: 74,722,961 (GRCm39)	D479G	probably damaging	Het
Dennd3	T	A	15: 73,419,041 (GRCm39)	C611S	probably benign	Het
Drosha	G	T	15: 12,928,992 (GRCm39)	V1299L	probably damaging	Het
Dst	A	G	1: 34,227,849 (GRCm39)	Y1814C	probably damaging	Het
Fbn2	A	G	18: 58,209,130 (GRCm39)	C1082R	probably damaging	Het
Fbxw22	A	T	9: 109,207,920 (GRCm39)	N450K	probably benign	Het
Hmcn1	T	A	1: 150,470,990 (GRCm39)	I4925F	possibly damaging	Het
Iho1	A	T	9: 108,282,500 (GRCm39)	V396E	probably benign	Het
Kin	G	T	2: 10,085,478 (GRCm39)	A13S	probably benign	Het
Lrp1b	G	A	2: 41,172,247 (GRCm39)	R1581C		Het
Myl2	T	C	5: 122,241,921 (GRCm39)	I66T	probably benign	Het
Npy5r	A	G	8: 67,134,137 (GRCm39)	C219R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oosp1	A	T	19: 11,664,757 (GRCm39)	Y100N	probably damaging	Het
Pdk4	A	G	6: 5,491,084 (GRCm39)	L227P	probably damaging	Het
Perm1	A	T	4: 156,302,177 (GRCm39)	E240D	probably benign	Het
Pi4ka	A	G	16: 17,204,156 (GRCm39)	L46P		Het
Pik3ca	A	G	3: 32,504,062 (GRCm39)	Y584C	probably damaging	Het
Prnp	T	C	2: 131,779,037 (GRCm39)	S230P	probably benign	Het
Rftn2	A	G	1: 55,241,355 (GRCm39)	F315S	possibly damaging	Het
Rp1l1	A	G	14: 64,266,039 (GRCm39)	R542G	probably benign	Het
Scn7a	T	C	2: 66,582,579 (GRCm39)	N106S	probably benign	Het
Sec24a	A	T	11: 51,603,122 (GRCm39)	N775K	probably damaging	Het
Slc13a2	G	A	11: 78,291,633 (GRCm39)	T340M	probably damaging	Het
Smarca2	A	G	19: 26,617,977 (GRCm39)	Q336R	probably benign	Het
Snx7	A	G	3: 117,632,611 (GRCm39)	V160A	possibly damaging	Het
Stim1	A	T	7: 102,060,506 (GRCm39)	D183V	possibly damaging	Het
Strn3	A	T	12: 51,696,956 (GRCm39)	D258E	probably damaging	Het
Stxbp1	G	A	2: 32,692,825 (GRCm39)	A397V	probably benign	Het
Tacr3	A	G	3: 134,535,092 (GRCm39)	H20R	probably benign	Het
Tg	T	A	15: 66,718,923 (GRCm39)	D2626E	possibly damaging	Het
Tmem131	A	G	1: 36,858,265 (GRCm39)	M694T	possibly damaging	Het
Tpp1	G	A	7: 105,398,464 (GRCm39)	A284V	probably benign	Het
Trank1	A	T	9: 111,176,943 (GRCm39)	T327S	probably benign	Het
Trim14	A	G	4: 46,510,404 (GRCm39)	W274R	unknown	Het
Tshz2	A	T	2: 169,725,759 (GRCm39)	E118D	probably benign	Het
Tshz3	A	G	7: 36,470,980 (GRCm39)	T990A	probably damaging	Het
Usp40	T	C	1: 87,925,557 (GRCm39)	D224G	probably benign	Het
Vmn2r130	A	G	17: 23,282,650 (GRCm39)	Q110R	probably benign	Het
Zscan2	A	G	7: 80,525,890 (GRCm39)	K537R	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GATGGCAGTGATGATTGCAGC -3'
(R):5'- ATCAGGTTGATCACACTCAGG -3'

Sequencing Primer
(F):5'- ATGAGTGACTTGGACTCCATC -3'
(R):5'- GGTTGATCACACTCAGGAGCAC -3'

Posted On

2022-07-18