Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Slc5a4a'

679754

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

068773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75983285-76025099 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76006617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 340 (T340A)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020450]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020450
AA Change: T340A

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: T340A

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
Pfam:SSF	58	492	4e-161	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	636	655	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 179,814,730 (GRCm39)	K99E	unknown	Het
Agxt2	C	A	15: 10,393,830 (GRCm39)	L375I	probably benign	Het
Akap13	T	C	7: 75,258,752 (GRCm39)	S459P	probably benign	Het
Arfgef3	T	A	10: 18,479,203 (GRCm39)	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,092,928 (GRCm39)		probably benign	Het
Azi2	C	A	9: 117,879,044 (GRCm39)	T141K	probably damaging	Het
B4galt6	A	G	18: 20,821,422 (GRCm39)	S369P	possibly damaging	Het
BC051019	C	T	7: 109,315,233 (GRCm39)	E341K	probably damaging	Het
Bdh1	G	A	16: 31,275,712 (GRCm39)	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cdipt	T	G	7: 126,578,825 (GRCm39)	D205E	probably damaging	Het
Clec4b1	G	T	6: 123,046,728 (GRCm39)		probably null	Het
Clip4	T	C	17: 72,138,203 (GRCm39)	L467S	probably damaging	Het
Cndp2	A	G	18: 84,693,298 (GRCm39)	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,546,977 (GRCm39)	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,009,174 (GRCm39)	I100F	probably benign	Het
Dppa5a	A	G	9: 78,275,165 (GRCm39)	S46P	probably benign	Het
Epyc	A	G	10: 97,511,607 (GRCm39)	D200G	probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fndc3b	C	T	3: 27,596,253 (GRCm39)	S112N	probably damaging	Het
Fras1	T	C	5: 96,917,366 (GRCm39)	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,615,138 (GRCm39)	I733T	probably damaging	Het
Gdf3	C	T	6: 122,586,756 (GRCm39)	R57Q		Het
Grwd1	A	T	7: 45,480,056 (GRCm39)	D50E	probably damaging	Het
Hgf	G	T	5: 16,798,988 (GRCm39)	D339Y	probably benign	Het
Kat7	T	C	11: 95,196,982 (GRCm39)	D19G	probably damaging	Het
Lefty1	A	G	1: 180,765,290 (GRCm39)	E286G	probably damaging	Het
Lrriq3	T	C	3: 154,893,819 (GRCm39)	F507L	probably damaging	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Metap1	T	C	3: 138,174,643 (GRCm39)	K247E	probably benign	Het
Muc4	T	G	16: 32,575,285 (GRCm39)	I1290S	probably benign	Het
Muc4	A	T	16: 32,754,017 (GRCm38)	T1298S	possibly damaging	Het
Nars1	G	T	18: 64,644,895 (GRCm39)	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,415,983 (GRCm39)	E1121V	probably damaging	Het
Nebl	C	A	2: 17,397,991 (GRCm39)	E481*	probably null	Het
Pdap1	T	C	5: 145,069,672 (GRCm39)	E111G	probably damaging	Het
Pds5b	T	C	5: 150,643,379 (GRCm39)	F67S	probably damaging	Het
Pole	T	C	5: 110,445,654 (GRCm39)	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,655,396 (GRCm39)	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,595,278 (GRCm39)	M887K	probably damaging	Het
Sec24b	T	C	3: 129,803,507 (GRCm39)	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,467,737 (GRCm39)		probably benign	Het
Slain1	A	T	14: 103,923,164 (GRCm39)	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,028,137 (GRCm39)	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,249,964 (GRCm39)	H90R	unknown	Het
Slc44a4	A	T	17: 35,136,508 (GRCm39)	D58V	probably damaging	Het
Sod2	C	A	17: 13,233,974 (GRCm39)	N195K	probably damaging	Het
Spart	T	C	3: 55,035,979 (GRCm39)	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,024,810 (GRCm39)	A266V	probably benign	Het
Tbx15	T	A	3: 99,222,219 (GRCm39)	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,882,308 (GRCm39)	V26A	probably benign	Het
Trank1	T	A	9: 111,208,003 (GRCm39)	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,411 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,706,924 (GRCm39)	I9089N	unknown	Het
Tut7	A	G	13: 59,947,942 (GRCm39)	V793A	probably benign	Het
Unc13a	T	C	8: 72,103,835 (GRCm39)	T866A	probably benign	Het
Vmn1r212	T	A	13: 23,067,494 (GRCm39)	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,232,541 (GRCm39)	T847A	probably benign	Het
Zer1	A	G	2: 30,000,881 (GRCm39)	L180P	probably damaging	Het
Zfp445	T	G	9: 122,682,732 (GRCm39)	Y403S	probably benign	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Slc5a4a	APN	10	75,999,567 (GRCm39)	missense	probably damaging	1.00
IGL01725:Slc5a4a	APN	10	76,017,508 (GRCm39)	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	75,983,413 (GRCm39)	missense	unknown
IGL02976:Slc5a4a	APN	10	76,006,527 (GRCm39)	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	75,986,346 (GRCm39)	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	75,986,386 (GRCm39)	missense	possibly damaging	0.81
R0054:Slc5a4a	UTSW	10	76,014,031 (GRCm39)	missense	probably null	0.00
R0244:Slc5a4a	UTSW	10	76,024,986 (GRCm39)	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76,018,556 (GRCm39)	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76,012,368 (GRCm39)	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76,013,995 (GRCm39)	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76,022,362 (GRCm39)	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76,025,103 (GRCm39)	splice site	probably null
R1857:Slc5a4a	UTSW	10	76,002,569 (GRCm39)	missense	probably benign	0.27
R1858:Slc5a4a	UTSW	10	76,002,569 (GRCm39)	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76,002,569 (GRCm39)	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	75,983,422 (GRCm39)	missense	unknown
R2016:Slc5a4a	UTSW	10	75,989,414 (GRCm39)	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76,013,915 (GRCm39)	splice site	probably null
R3420:Slc5a4a	UTSW	10	76,012,407 (GRCm39)	missense	probably benign	0.00
R3421:Slc5a4a	UTSW	10	76,012,407 (GRCm39)	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76,012,407 (GRCm39)	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76,024,983 (GRCm39)	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76,017,489 (GRCm39)	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	75,984,196 (GRCm39)	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76,013,929 (GRCm39)	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76,013,929 (GRCm39)	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76,022,398 (GRCm39)	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76,014,065 (GRCm39)	missense	probably damaging	0.98
R5135:Slc5a4a	UTSW	10	75,983,428 (GRCm39)	missense	unknown
R5254:Slc5a4a	UTSW	10	76,018,572 (GRCm39)	nonsense	probably null
R6083:Slc5a4a	UTSW	10	75,983,431 (GRCm39)	missense	unknown
R6331:Slc5a4a	UTSW	10	76,014,034 (GRCm39)	missense	probably damaging	0.98
R7591:Slc5a4a	UTSW	10	75,983,501 (GRCm39)	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	75,983,384 (GRCm39)	missense	unknown
R8785:Slc5a4a	UTSW	10	75,986,238 (GRCm39)	critical splice acceptor site	probably benign
R8993:Slc5a4a	UTSW	10	76,022,369 (GRCm39)	missense	probably benign	0.15
R9018:Slc5a4a	UTSW	10	76,002,546 (GRCm39)	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	75,986,238 (GRCm39)	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76,022,396 (GRCm39)	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76,002,608 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76,018,681 (GRCm39)	nonsense	probably null
Z1177:Slc5a4a	UTSW	10	76,002,578 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGCTCAGAAGACAGATTAGACATC -3'
(R):5'- CCCGCAGAAGCTGTTTTCTC -3'

Sequencing Primer
(F):5'- GATTAGACATCATTTTCTGGTTGCC -3'
(R):5'- GTCTAACTCAAGTTCTGGAGGACC -3'

Posted On

2021-08-02