Mutagenetix > Incidental Mutations

Incidental Mutation 'R7683:Slc5a4b'

592884

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R7683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76057494-76110961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76064072 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 444 (V444A)

Ref Sequence

ENSEMBL: ENSMUSP00000113582 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120757
AA Change: V444A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: V444A

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	A	G	13: 59,512,498	C305R	probably damaging	Het
Anpep	C	A	7: 79,839,198	V381L	probably damaging	Het
Ap5s1	T	C	2: 131,212,707	L146P	probably damaging	Het
Arhgef11	A	G	3: 87,722,383	I599V	probably damaging	Het
Arpc2	T	C	1: 74,263,814	Y250H	probably damaging	Het
Baz1b	T	A	5: 135,217,728	M677K	probably damaging	Het
Begain	C	T	12: 109,033,487	A453T	unknown	Het
C1ql4	T	C	15: 99,087,211	D173G	probably benign	Het
Card11	T	G	5: 140,896,026	N461T	probably benign	Het
Ccdc9	T	C	7: 16,284,362	D7G	probably damaging	Het
Ces2a	T	C	8: 104,737,112	V152A	probably benign	Het
Chl1	G	A	6: 103,691,652	A449T	possibly damaging	Het
Col11a1	G	T	3: 114,113,736	G638W	unknown	Het
Cse1l	A	T	2: 166,922,788	T171S	probably benign	Het
D2hgdh	T	A	1: 93,838,965		probably null	Het
Dlg4	T	C	11: 70,039,854	Y432H	possibly damaging	Het
Dmwd	C	T	7: 19,080,735	L437F	probably damaging	Het
F11	T	A	8: 45,249,508	Q251L	probably damaging	Het
Gm13078	A	T	4: 143,726,714	K131*	probably null	Het
Gtf2f1	T	A	17: 57,005,458	E195V	possibly damaging	Het
Hap1	A	T	11: 100,351,548	L376Q	probably damaging	Het
Hars2	T	A	18: 36,788,236	I234N	probably damaging	Het
Hcfc2	T	C	10: 82,699,229	V29A	probably benign	Het
Hp	C	T	8: 109,579,099		probably benign	Het
Hrh1	T	C	6: 114,479,787	S10P	probably benign	Het
Kcnmb2	A	G	3: 32,198,316	Y222C	probably damaging	Het
Kdm3a	A	G	6: 71,599,454	V792A	probably benign	Het
Kif13b	G	A	14: 64,757,507	V903I	probably benign	Het
Lars2	G	T	9: 123,377,830		probably null	Het
Med7	A	G	11: 46,440,860	D94G	possibly damaging	Het
Mier3	A	G	13: 111,705,312	T136A	probably benign	Het
Nin	T	C	12: 70,078,182	E122G		Het
Olfr186	G	T	16: 59,027,106	T267K	probably benign	Het
Olfr427	A	G	1: 174,099,476	Q6R	probably benign	Het
Oxsr1	T	C	9: 119,241,755	I489V	probably benign	Het
Pdcd6ip	A	T	9: 113,687,695	L216Q	probably damaging	Het
Ppp4r4	T	A	12: 103,587,105	C379*	probably null	Het
Ptpn13	T	A	5: 103,565,152	C1714S	probably benign	Het
Pum2	G	A	12: 8,728,922	R498Q	possibly damaging	Het
Sema3d	T	A	5: 12,573,856	Y577*	probably null	Het
Slc29a3	G	A	10: 60,716,366	P300S	not run	Het
Smad9	A	G	3: 54,789,264	E250G	probably damaging	Het
Srsf7	A	G	17: 80,207,274		probably benign	Het
Thsd7b	A	G	1: 129,595,946	Y239C	probably damaging	Het
Triml2	C	A	8: 43,185,288	Q98K	probably damaging	Het
Txndc11	A	T	16: 11,084,235	L705Q	probably damaging	Het
Vmn1r22	A	G	6: 57,900,419	M191T	probably damaging	Het
Vmn2r89	A	T	14: 51,455,194	K151N	probably benign	Het
Vwa5a	A	G	9: 38,734,829	I498V	probably damaging	Het
Zfp459	T	C	13: 67,408,496	H156R	probably damaging	Het
Zscan18	T	A	7: 12,769,605	K676*	probably null	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
R3890:Slc5a4b	UTSW	10	76062260	missense	probably benign	0.01
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
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
R7960:Slc5a4b	UTSW	10	76075052	missense	probably damaging	1.00
X0019:Slc5a4b	UTSW	10	76110851	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- AAAGTTGAAATGGGCCTGAAGTTAC -3'
(R):5'- CCAGCAAGGTCAAGCAGTTTG -3'

Sequencing Primer
(F):5'- ACGTAGATTGGACAGGATTCC -3'
(R):5'- AGCAGTTTGACTTTCCCTGGAAATC -3'

Posted On

2019-11-12