Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Slc5a4b'

34578

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

SGLT3b, pSGLT2, 2010104G07Rik, SAAT1

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75894452-75946852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75906462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 386 (M386V)

Ref Sequence

ENSEMBL: ENSMUSP00000113582 (fasta)

Gene Model

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

AlphaFold

Q91ZP4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120757
AA Change: M386V

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: M386V

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

0.3437

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,552,406 (GRCm39)		probably benign	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Ap1g1	G	T	8: 110,529,749 (GRCm39)	M56I	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,866,259 (GRCm39)	M378K	possibly damaging	Het
Atp1a3	T	C	7: 24,680,937 (GRCm39)		probably benign	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Fap	C	T	2: 62,333,746 (GRCm39)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,705,113 (GRCm39)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	possibly damaging	Het

Other mutations in Slc5a4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Slc5a4b	APN	10	75,906,422 (GRCm39)	missense	probably damaging	1.00
IGL01433:Slc5a4b	APN	10	75,906,329 (GRCm39)	splice site	probably benign
IGL01754:Slc5a4b	APN	10	75,906,449 (GRCm39)	missense	probably damaging	1.00
IGL01904:Slc5a4b	APN	10	75,896,260 (GRCm39)	missense	probably damaging	0.98
IGL01990:Slc5a4b	APN	10	75,896,188 (GRCm39)	missense	probably benign	0.01
IGL02211:Slc5a4b	APN	10	75,896,297 (GRCm39)	splice site	probably benign
IGL02254:Slc5a4b	APN	10	75,896,264 (GRCm39)	missense	probably benign
IGL02389:Slc5a4b	APN	10	75,908,299 (GRCm39)	nonsense	probably null
IGL02427:Slc5a4b	APN	10	75,894,713 (GRCm39)	missense	possibly damaging	0.47
IGL02493:Slc5a4b	APN	10	75,910,849 (GRCm39)	missense	probably damaging	1.00
IGL02554:Slc5a4b	APN	10	75,946,685 (GRCm39)	missense	possibly damaging	0.75
IGL02670:Slc5a4b	APN	10	75,910,934 (GRCm39)	missense	probably damaging	1.00
R0285:Slc5a4b	UTSW	10	75,898,117 (GRCm39)	missense	probably damaging	0.99
R0294:Slc5a4b	UTSW	10	75,917,161 (GRCm39)	missense	probably damaging	1.00
R0522:Slc5a4b	UTSW	10	75,926,534 (GRCm39)	missense	probably damaging	0.99
R0601:Slc5a4b	UTSW	10	75,899,870 (GRCm39)	missense	possibly damaging	0.81
R0714:Slc5a4b	UTSW	10	75,917,341 (GRCm39)	missense	probably benign	0.09
R0975:Slc5a4b	UTSW	10	75,917,241 (GRCm39)	missense	probably benign	0.09
R1934:Slc5a4b	UTSW	10	75,917,307 (GRCm39)	missense	possibly damaging	0.51
R2339:Slc5a4b	UTSW	10	75,944,383 (GRCm39)	missense	probably damaging	1.00
R2886:Slc5a4b	UTSW	10	75,910,907 (GRCm39)	missense	probably damaging	0.98
R3552:Slc5a4b	UTSW	10	75,917,358 (GRCm39)	missense	probably damaging	0.99
R3890:Slc5a4b	UTSW	10	75,898,094 (GRCm39)	missense	probably benign	0.01
R4012:Slc5a4b	UTSW	10	75,910,826 (GRCm39)	missense	probably damaging	1.00
R4259:Slc5a4b	UTSW	10	75,939,686 (GRCm39)	missense	probably damaging	1.00
R4260:Slc5a4b	UTSW	10	75,939,686 (GRCm39)	missense	probably damaging	1.00
R4471:Slc5a4b	UTSW	10	75,894,725 (GRCm39)	nonsense	probably null
R4667:Slc5a4b	UTSW	10	75,910,879 (GRCm39)	missense	possibly damaging	0.78
R4846:Slc5a4b	UTSW	10	75,898,073 (GRCm39)	missense	probably damaging	0.99
R4939:Slc5a4b	UTSW	10	75,917,301 (GRCm39)	missense	probably benign	0.44
R5181:Slc5a4b	UTSW	10	75,896,221 (GRCm39)	nonsense	probably null
R5319:Slc5a4b	UTSW	10	75,898,233 (GRCm39)	missense	probably benign	0.08
R6306:Slc5a4b	UTSW	10	75,917,185 (GRCm39)	missense	probably benign	0.01
R6422:Slc5a4b	UTSW	10	75,939,696 (GRCm39)	missense	probably damaging	0.97
R6837:Slc5a4b	UTSW	10	75,898,220 (GRCm39)	missense	possibly damaging	0.49
R6997:Slc5a4b	UTSW	10	75,925,812 (GRCm39)	missense	probably damaging	0.97
R7140:Slc5a4b	UTSW	10	75,910,943 (GRCm39)	missense	probably damaging	1.00
R7527:Slc5a4b	UTSW	10	75,946,742 (GRCm39)	missense	probably benign	0.01
R7683:Slc5a4b	UTSW	10	75,899,906 (GRCm39)	missense	probably damaging	0.96
R7718:Slc5a4b	UTSW	10	75,906,407 (GRCm39)	missense	probably damaging	1.00
R7794:Slc5a4b	UTSW	10	75,898,133 (GRCm39)	missense	probably benign	0.19
R7877:Slc5a4b	UTSW	10	75,910,886 (GRCm39)	missense	probably damaging	1.00
R8150:Slc5a4b	UTSW	10	75,939,680 (GRCm39)	missense	possibly damaging	0.93
R8843:Slc5a4b	UTSW	10	75,910,925 (GRCm39)	missense	probably damaging	1.00
R9111:Slc5a4b	UTSW	10	75,925,827 (GRCm39)	splice site	probably benign
R9163:Slc5a4b	UTSW	10	75,917,165 (GRCm39)	nonsense	probably null
R9195:Slc5a4b	UTSW	10	75,898,149 (GRCm39)	missense	probably damaging	1.00
R9600:Slc5a4b	UTSW	10	75,896,239 (GRCm39)	missense	probably damaging	1.00
R9643:Slc5a4b	UTSW	10	75,945,896 (GRCm39)	missense	probably benign	0.01
R9656:Slc5a4b	UTSW	10	75,944,391 (GRCm39)	missense	probably damaging	0.98
R9699:Slc5a4b	UTSW	10	75,946,674 (GRCm39)	missense	probably damaging	0.99
X0019:Slc5a4b	UTSW	10	75,946,685 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TGAGTCTTCCCCATTGTAGAACCACAT -3'
(R):5'- ACCCACTGATAGTTGCAGTAGCTCATA -3'

Sequencing Primer
(F):5'- TTCCCTCAGTCTAAGGGGC -3'
(R):5'- CAGTAGCTCATAACTCTGTGAGTG -3'

Posted On

2013-05-09