Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Slc5a4b'

269003

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

040669-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R3552 (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 76081524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 226 (V226A)

Ref Sequence

ENSEMBL: ENSMUSP00000113582 (fasta)

Gene Model

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

AlphaFold

Q91ZP4

Predicted Effect

probably damaging
Transcript: ENSMUST00000120757
AA Change: V226A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: V226A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124320

Meta Mutation Damage Score

0.5090

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	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
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
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'- TGTGCAAATGTCGATGCTCAC -3'
(R):5'- AATCTATCATGGACAATCCCAAAGG -3'

Sequencing Primer
(F):5'- AAATGTCGATGCTCACCTGATCG -3'
(R):5'- AGGCATACTCGGACCATTGG -3'

Posted On

2015-02-19