Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Slc5a4b'

310351

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4b

Ensembl Gene

ENSMUSG00000020226

Gene Name

solute carrier family 5 (neutral amino acid transporters, system A), member 4b

Synonyms

pSGLT2, SGLT3b, 2010104G07Rik, SAAT1

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R3890 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76057494-76110961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76062260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 540 (V540A)

Ref Sequence

ENSEMBL: ENSMUSP00000113582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120757]

AlphaFold

Q91ZP4

Predicted Effect

probably benign
Transcript: ENSMUST00000120757
AA Change: V540A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: V540A

Domain	Start	End	E-Value	Type
low complexity region	16	21	N/A	INTRINSIC
Pfam:SSF	58	492	1.4e-163	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	640	659	N/A	INTRINSIC

Meta Mutation Damage Score

0.0889

Coding Region Coverage

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

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,554,700	Y201C	probably damaging	Het
Adam10	A	G	9: 70,768,854	T624A	probably benign	Het
Atf2	T	C	2: 73,863,213	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,587,045	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,483,553	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,426,169	T49P	probably benign	Het
Clip2	T	C	5: 134,522,993	K92E	probably damaging	Het
Clrn3	T	C	7: 135,518,465	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,170,480	C1342G	probably benign	Het
Def8	T	C	8: 123,458,344		probably benign	Het
Dennd4a	T	C	9: 64,872,028	S598P	probably damaging	Het
Deup1	A	G	9: 15,599,713	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Ect2	T	C	3: 27,138,540	D387G	probably damaging	Het
Fam208b	T	C	13: 3,596,785	E80G	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,794,055	I529N	probably benign	Het
Frs3	A	G	17: 47,703,435	D351G	probably damaging	Het
Gcat	T	A	15: 79,037,176	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,635,195	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,781,594	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,567,256	I571T	probably benign	Het
Lsamp	T	C	16: 39,984,692	V11A	probably benign	Het
Mettl1	T	C	10: 127,045,129		probably null	Het
Mettl15	A	G	2: 109,191,579	I127T	probably benign	Het
Mipep	T	C	14: 60,808,995	L322P	probably damaging	Het
Mob1b	T	A	5: 88,753,202	I156K	probably damaging	Het
Mobp	G	A	9: 120,167,956	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,632,907	N97S	probably benign	Het
Myrip	A	G	9: 120,422,258	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,349,456	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,331,485	A342S	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr170	A	G	16: 19,606,455	I71T	probably damaging	Het
Olfr58	T	G	9: 19,783,715	I194S	probably benign	Het
Olfr718-ps1	G	T	5: 143,137,397	S290R	probably benign	Het
Pdgfra	A	G	5: 75,167,927	N240S	probably null	Het
Pdxdc1	T	C	16: 13,836,448	T759A	probably benign	Het
Pex2	C	T	3: 5,560,948	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,945,703	I473T	probably damaging	Het
Prdm15	T	C	16: 97,799,571	H829R	probably damaging	Het
Pum1	T	C	4: 130,764,082	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,228,355	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,765,224	F956I	probably damaging	Het
Samd1	G	A	8: 83,997,732		probably benign	Het
Slc4a11	A	T	2: 130,685,785	S592T	probably damaging	Het
Slfn8	G	A	11: 83,004,444	T512I	possibly damaging	Het
Slx4	A	T	16: 3,979,909	I1537N	probably damaging	Het
Sorl1	G	A	9: 42,004,105	T1276M	probably damaging	Het
Specc1	C	T	11: 62,151,913	T872M	probably benign	Het
Speer4f1	T	C	5: 17,479,502	I176T	probably damaging	Het
Spint1	T	C	2: 119,248,802	I455T	probably benign	Het
Srp54a	A	G	12: 55,089,193		probably null	Het
Stoml3	T	A	3: 53,507,454	N222K	probably damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tanc2	A	T	11: 105,798,678	D222V	probably damaging	Het
Thsd7a	G	A	6: 12,418,337	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,857,936	H723Y	probably benign	Het
Wdfy4	T	C	14: 33,047,280	E2076G	probably damaging	Het

Other mutations in Slc5a4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Slc5a4b	APN	10	76070588	missense	probably damaging	1.00
IGL01433:Slc5a4b	APN	10	76070495	splice site	probably benign
IGL01754:Slc5a4b	APN	10	76070615	missense	probably damaging	1.00
IGL01904:Slc5a4b	APN	10	76060426	missense	probably damaging	0.98
IGL01990:Slc5a4b	APN	10	76060354	missense	probably benign	0.01
IGL02211:Slc5a4b	APN	10	76060463	splice site	probably benign
IGL02254:Slc5a4b	APN	10	76060430	missense	probably benign
IGL02389:Slc5a4b	APN	10	76072465	nonsense	probably null
IGL02427:Slc5a4b	APN	10	76058879	missense	possibly damaging	0.47
IGL02493:Slc5a4b	APN	10	76075015	missense	probably damaging	1.00
IGL02554:Slc5a4b	APN	10	76110851	missense	possibly damaging	0.75
IGL02670:Slc5a4b	APN	10	76075100	missense	probably damaging	1.00
R0254:Slc5a4b	UTSW	10	76070628	missense	possibly damaging	0.55
R0285:Slc5a4b	UTSW	10	76062283	missense	probably damaging	0.99
R0294:Slc5a4b	UTSW	10	76081327	missense	probably damaging	1.00
R0522:Slc5a4b	UTSW	10	76090700	missense	probably damaging	0.99
R0601:Slc5a4b	UTSW	10	76064036	missense	possibly damaging	0.81
R0714:Slc5a4b	UTSW	10	76081507	missense	probably benign	0.09
R0975:Slc5a4b	UTSW	10	76081407	missense	probably benign	0.09
R1934:Slc5a4b	UTSW	10	76081473	missense	possibly damaging	0.51
R2339:Slc5a4b	UTSW	10	76108549	missense	probably damaging	1.00
R2886:Slc5a4b	UTSW	10	76075073	missense	probably damaging	0.98
R3552:Slc5a4b	UTSW	10	76081524	missense	probably damaging	0.99
R4012:Slc5a4b	UTSW	10	76074992	missense	probably damaging	1.00
R4259:Slc5a4b	UTSW	10	76103852	missense	probably damaging	1.00
R4260:Slc5a4b	UTSW	10	76103852	missense	probably damaging	1.00
R4471:Slc5a4b	UTSW	10	76058891	nonsense	probably null
R4667:Slc5a4b	UTSW	10	76075045	missense	possibly damaging	0.78
R4846:Slc5a4b	UTSW	10	76062239	missense	probably damaging	0.99
R4939:Slc5a4b	UTSW	10	76081467	missense	probably benign	0.44
R5181:Slc5a4b	UTSW	10	76060387	nonsense	probably null
R5319:Slc5a4b	UTSW	10	76062399	missense	probably benign	0.08
R6306:Slc5a4b	UTSW	10	76081351	missense	probably benign	0.01
R6422:Slc5a4b	UTSW	10	76103862	missense	probably damaging	0.97
R6837:Slc5a4b	UTSW	10	76062386	missense	possibly damaging	0.49
R6997:Slc5a4b	UTSW	10	76089978	missense	probably damaging	0.97
R7140:Slc5a4b	UTSW	10	76075109	missense	probably damaging	1.00
R7527:Slc5a4b	UTSW	10	76110908	missense	probably benign	0.01
R7683:Slc5a4b	UTSW	10	76064072	missense	probably damaging	0.96
R7718:Slc5a4b	UTSW	10	76070573	missense	probably damaging	1.00
R7794:Slc5a4b	UTSW	10	76062299	missense	probably benign	0.19
R7877:Slc5a4b	UTSW	10	76075052	missense	probably damaging	1.00
R8150:Slc5a4b	UTSW	10	76103846	missense	possibly damaging	0.93
R8843:Slc5a4b	UTSW	10	76075091	missense	probably damaging	1.00
R9111:Slc5a4b	UTSW	10	76089993	splice site	probably benign
R9163:Slc5a4b	UTSW	10	76081331	nonsense	probably null
R9195:Slc5a4b	UTSW	10	76062315	missense	probably damaging	1.00
R9600:Slc5a4b	UTSW	10	76060405	missense	probably damaging	1.00
R9643:Slc5a4b	UTSW	10	76110062	missense	probably benign	0.01
R9656:Slc5a4b	UTSW	10	76108557	missense	probably damaging	0.98
R9699:Slc5a4b	UTSW	10	76110840	missense	probably damaging	0.99
X0019:Slc5a4b	UTSW	10	76110851	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACATCTTTCTCTGGGGCTTG -3'
(R):5'- GACTTTCTCTGAAGGAAGCCAGC -3'

Sequencing Primer
(F):5'- CTTGGCATATGTTAGGCGCAAAG -3'
(R):5'- CCAGCAAGCAGGATGGTAACC -3'

Posted On

2015-04-17