Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Slc5a4a'

41002

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

038348-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76178197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 413 (I413V)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020450
AA Change: I413V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: I413V

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,601,774 (GRCm38)		probably null	Het
Ahnak	T	A	19: 9,012,056 (GRCm38)	V3568E	probably damaging	Het
Alpi	T	C	1: 87,099,765 (GRCm38)	E293G	possibly damaging	Het
Apoa4	A	G	9: 46,242,524 (GRCm38)	D141G	probably benign	Het
Arntl2	T	G	6: 146,829,718 (GRCm38)	V507G	probably benign	Het
Atg9a	T	C	1: 75,184,499 (GRCm38)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,932,166 (GRCm38)	R922Q	probably damaging	Het
Bpnt1	G	A	1: 185,341,216 (GRCm38)		probably benign	Het
Brms1	T	A	19: 5,046,699 (GRCm38)	C136*	probably null	Het
Ccdc129	T	C	6: 55,872,472 (GRCm38)		probably benign	Het
Ccdc180	T	A	4: 45,890,900 (GRCm38)	V24E	probably benign	Het
Cdh17	A	G	4: 11,785,186 (GRCm38)	Y326C	possibly damaging	Het
Cgn	A	T	3: 94,762,592 (GRCm38)	D1080E	possibly damaging	Het
Clec4f	C	T	6: 83,652,929 (GRCm38)	V216M	probably benign	Het
Cpd	C	G	11: 76,790,838 (GRCm38)	G1160R	probably damaging	Het
Csf2ra	A	G	19: 61,226,597 (GRCm38)	L143P	probably damaging	Het
Ddb2	G	T	2: 91,234,820 (GRCm38)	Q87K	probably benign	Het
Defb41	A	G	1: 18,251,247 (GRCm38)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,661,474 (GRCm38)	N1546D	probably benign	Het
Dll1	A	T	17: 15,368,954 (GRCm38)	H486Q	probably damaging	Het
Dmac1	A	G	4: 75,278,100 (GRCm38)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,862,619 (GRCm38)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,807,579 (GRCm38)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,766,826 (GRCm38)	D973Y	unknown	Het
Entpd3	T	A	9: 120,557,542 (GRCm38)	N196K	probably damaging	Het
Fam53a	C	A	5: 33,607,732 (GRCm38)	G210V	probably damaging	Het
Farsb	T	A	1: 78,462,374 (GRCm38)	K395*	probably null	Het
Fem1b	A	G	9: 62,796,800 (GRCm38)	S393P	probably damaging	Het
Fsip2	A	C	2: 82,986,955 (GRCm38)	N4344T	possibly damaging	Het
Fsip2	T	A	2: 82,976,608 (GRCm38)	D1090E	probably damaging	Het
Gata3	G	A	2: 9,858,447 (GRCm38)	P419S	probably damaging	Het
Gm13023	T	A	4: 143,795,002 (GRCm38)	L396H	probably damaging	Het
Gm7247	T	A	14: 51,569,600 (GRCm38)		probably benign	Het
Gphn	A	G	12: 78,637,503 (GRCm38)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,798,929 (GRCm38)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm38)		probably benign	Het
Grik3	C	A	4: 125,623,575 (GRCm38)	N70K	probably damaging	Het
Gsap	T	A	5: 21,250,935 (GRCm38)		probably benign	Het
Iars	T	A	13: 49,693,135 (GRCm38)	C237S	probably damaging	Het
Kank2	G	A	9: 21,774,674 (GRCm38)	R635*	probably null	Het
Kcnj16	G	T	11: 111,024,723 (GRCm38)	W70C	probably damaging	Het
Kpna6	T	C	4: 129,657,458 (GRCm38)	M85V	probably benign	Het
Kri1	G	A	9: 21,275,365 (GRCm38)	S447L	probably damaging	Het
L2hgdh	G	A	12: 69,721,331 (GRCm38)	P131L	possibly damaging	Het
Lrp1b	A	G	2: 40,742,817 (GRCm38)	V3528A	probably benign	Het
Lrrc46	A	T	11: 97,038,779 (GRCm38)	L77Q	probably damaging	Het
Mdc1	A	G	17: 35,849,033 (GRCm38)	T678A	probably benign	Het
Mrpl44	T	C	1: 79,779,495 (GRCm38)	L219S	probably damaging	Het
Myo7a	T	C	7: 98,065,698 (GRCm38)	D112G	probably damaging	Het
Ncoa3	A	G	2: 166,055,178 (GRCm38)	T630A	possibly damaging	Het
Nsl1	T	C	1: 191,082,184 (GRCm38)	L194P	probably damaging	Het
Olfr1037	T	C	2: 86,085,361 (GRCm38)	K139E	probably benign	Het
Olfr1285	G	A	2: 111,408,795 (GRCm38)	G127S	probably benign	Het
Olfr205	T	C	16: 59,329,065 (GRCm38)	Y148C	possibly damaging	Het
Pde4d	A	G	13: 109,740,421 (GRCm38)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,325,114 (GRCm38)	R845G	probably null	Het
Pld1	A	G	3: 28,095,884 (GRCm38)		probably benign	Het
Psd	T	A	19: 46,323,342 (GRCm38)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,196 (GRCm38)	W332R	probably damaging	Het
Rab3d	A	T	9: 21,915,926 (GRCm38)	S3T	possibly damaging	Het
Rnf212	T	A	5: 108,745,664 (GRCm38)	M70L	possibly damaging	Het
Scd3	A	G	19: 44,215,637 (GRCm38)	Y88C	probably damaging	Het
Sema4f	A	G	6: 82,919,693 (GRCm38)		probably benign	Het
Sez6	C	A	11: 77,953,873 (GRCm38)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,645,463 (GRCm38)	I290T	probably benign	Het
Slc17a3	C	T	13: 23,855,858 (GRCm38)	S293F	probably damaging	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slc4a4	A	C	5: 89,156,336 (GRCm38)	H502P	possibly damaging	Het
Slc5a3	T	A	16: 92,077,634 (GRCm38)	I193N	probably damaging	Het
Snip1	T	A	4: 125,072,840 (GRCm38)	Y354*	probably null	Het
Spata31d1c	A	G	13: 65,033,062 (GRCm38)		probably benign	Het
Speer2	G	A	16: 69,858,752 (GRCm38)	T62M	probably damaging	Het
Tmco5	A	G	2: 116,887,287 (GRCm38)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,831,441 (GRCm38)		probably benign	Het
Trim43c	A	T	9: 88,847,515 (GRCm38)	K336N	probably damaging	Het
Trim60	T	C	8: 65,001,321 (GRCm38)	E92G	probably benign	Het
Ttc21a	C	A	9: 119,943,940 (GRCm38)	Q228K	probably damaging	Het
Ttn	A	T	2: 76,796,460 (GRCm38)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm38)	I168N	probably damaging	Het
Vmn1r167	T	G	7: 23,504,909 (GRCm38)	R227S	possibly damaging	Het
Vmn2r25	T	A	6: 123,853,025 (GRCm38)	I56L	probably benign	Het
Zfp385c	G	A	11: 100,629,956 (GRCm38)	P293S	probably benign	Het
Zfp473	T	A	7: 44,734,475 (GRCm38)	S144C	probably damaging	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Slc5a4a	APN	10	76,163,733 (GRCm38)	missense	probably damaging	1.00
IGL01725:Slc5a4a	APN	10	76,181,674 (GRCm38)	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	76,147,579 (GRCm38)	missense	unknown
IGL02976:Slc5a4a	APN	10	76,170,693 (GRCm38)	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	76,150,512 (GRCm38)	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	76,150,552 (GRCm38)	missense	possibly damaging	0.81
R0244:Slc5a4a	UTSW	10	76,189,152 (GRCm38)	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76,182,722 (GRCm38)	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76,176,534 (GRCm38)	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76,178,161 (GRCm38)	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76,186,528 (GRCm38)	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76,189,269 (GRCm38)	splice site	probably null
R1857:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1858:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	76,147,588 (GRCm38)	missense	unknown
R2016:Slc5a4a	UTSW	10	76,153,580 (GRCm38)	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76,178,081 (GRCm38)	splice site	probably null
R3420:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3421:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76,189,149 (GRCm38)	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76,181,655 (GRCm38)	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	76,148,362 (GRCm38)	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76,178,095 (GRCm38)	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76,178,095 (GRCm38)	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76,186,564 (GRCm38)	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76,178,231 (GRCm38)	missense	probably damaging	0.98
R5135:Slc5a4a	UTSW	10	76,147,594 (GRCm38)	missense	unknown
R5254:Slc5a4a	UTSW	10	76,182,738 (GRCm38)	nonsense	probably null
R6083:Slc5a4a	UTSW	10	76,147,597 (GRCm38)	missense	unknown
R6331:Slc5a4a	UTSW	10	76,178,200 (GRCm38)	missense	probably damaging	0.98
R7591:Slc5a4a	UTSW	10	76,147,667 (GRCm38)	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	76,147,550 (GRCm38)	missense	unknown
R8785:Slc5a4a	UTSW	10	76,150,404 (GRCm38)	critical splice acceptor site	probably benign
R8929:Slc5a4a	UTSW	10	76,170,783 (GRCm38)	missense	probably benign	0.27
R8993:Slc5a4a	UTSW	10	76,186,535 (GRCm38)	missense	probably benign	0.15
R9018:Slc5a4a	UTSW	10	76,166,712 (GRCm38)	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	76,150,404 (GRCm38)	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76,186,562 (GRCm38)	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76,166,774 (GRCm38)	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76,182,847 (GRCm38)	nonsense	probably null
Z1177:Slc5a4a	UTSW	10	76,166,744 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGACATCTGCTCAGTGACTGTTCC -3'
(R):5'- GCGTTAAACCATTCCCAGTGTCACC -3'

Sequencing Primer
(F):5'- TGTTCCTGAGAAATCCAGCG -3'
(R):5'- CTCTTCTGTGACGATTTTCACTG -3'

Posted On

2013-05-23