Mutagenetix > Incidental Mutation

Incidental Mutation 'R5135:Slc5a4a'

396142

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

043261-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5135 (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 76147594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 22 (N22D)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000020450
AA Change: N22D

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: N22D

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

0.0869

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (82/84)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	C	1: 184,033,506	S119G	probably benign	Het
4930553M12Rik	G	T	4: 88,868,271	H37N	unknown	Het
Adam10	T	A	9: 70,766,074	C496S	probably damaging	Het
Akap2	G	T	4: 57,855,912	A414S	probably benign	Het
Aldh18a1	A	C	19: 40,554,817		probably benign	Het
Alox5	A	G	6: 116,413,786	F468S	probably benign	Het
Ankrd50	T	C	3: 38,455,803	H805R	probably damaging	Het
Ap2s1	T	A	7: 16,747,323	D72E	probably damaging	Het
Apaf1	T	C	10: 91,060,094	Y372C	probably damaging	Het
Apob	C	T	12: 8,010,086	T2823I	probably damaging	Het
Bhmt	A	G	13: 93,627,323	V70A	probably damaging	Het
Cdc42bpg	T	A	19: 6,320,618	L1247H	probably damaging	Het
Cel	A	G	2: 28,559,423	V264A	probably benign	Het
Celsr2	T	C	3: 108,398,659	N2043S	probably damaging	Het
Clca4a	A	T	3: 144,954,946	W706R	probably damaging	Het
Col22a1	G	T	15: 71,799,337	P1058Q	unknown	Het
Cyp4a14	A	G	4: 115,489,960		probably null	Het
Dhx30	T	G	9: 110,098,795	R55S	probably damaging	Het
Dlgap5	C	T	14: 47,399,665	R452H	probably damaging	Het
Dnah12	T	A	14: 26,770,477	D1191E	probably damaging	Het
Dock3	A	T	9: 106,932,997	I164N	probably damaging	Het
Edrf1	T	A	7: 133,651,044	M436K	probably benign	Het
Eif2ak2	T	A	17: 78,866,345	Y268F	probably damaging	Het
Evi2a	G	A	11: 79,527,451	T111M	possibly damaging	Het
Fzd4	A	G	7: 89,407,501	E252G	probably damaging	Het
Gcm2	A	G	13: 41,102,959	V438A	probably benign	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Gm21994	A	T	2: 150,255,490	Y34*	probably null	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm4846	T	C	1: 166,483,982	D436G	probably damaging	Het
Gm5414	T	A	15: 101,627,768	I141F	probably damaging	Het
Gm6185	T	A	1: 161,198,231		noncoding transcript	Het
Grip2	T	C	6: 91,773,916	E776G	possibly damaging	Het
H2-Ob	T	A	17: 34,243,516	V160E	probably benign	Het
Hormad1	T	C	3: 95,585,220		probably benign	Het
Ighv2-1	A	T	12: 113,574,462		probably benign	Het
Igkv4-92	A	T	6: 68,755,554	C14S	probably benign	Het
Iqsec3	T	C	6: 121,383,919	I993M	probably damaging	Het
Kdm5b	T	A	1: 134,588,746		probably benign	Het
Kitl	T	C	10: 100,088,222		probably null	Het
Klhl26	G	T	8: 70,452,718	R100S	probably benign	Het
Kpna4	C	T	3: 69,092,809		probably null	Het
Lama5	T	A	2: 180,202,220	N383Y	possibly damaging	Het
Large1	T	G	8: 72,818,096	I685L	probably benign	Het
Larp4b	A	G	13: 9,170,737	E590G	probably damaging	Het
Liph	A	T	16: 21,956,165	C425*	probably null	Het
Lrrc31	A	T	3: 30,684,890	C327*	probably null	Het
Lrrc36	T	C	8: 105,463,898	V733A	probably benign	Het
Mmel1	T	A	4: 154,882,324	I83K	probably benign	Het
Myo16	G	T	8: 10,476,114	V885L	probably benign	Het
Naip2	A	T	13: 100,179,440	N277K	probably damaging	Het
Ncapg2	T	A	12: 116,427,786	I485N	possibly damaging	Het
Npc1l1	A	T	11: 6,224,245	Y687N	possibly damaging	Het
Obscn	A	T	11: 59,129,653	V922E	probably damaging	Het
Oc90	A	G	15: 65,883,830	S223P	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1253	A	T	2: 89,751,895	L311H	possibly damaging	Het
Olfr1508	T	C	14: 52,463,854	I52V	probably benign	Het
Pdlim5	C	T	3: 142,304,365	R174H	probably benign	Het
Pex5l	G	T	3: 32,955,831	A386E	probably damaging	Het
Plcxd1	T	A	5: 110,101,363		probably benign	Het
Pramef8	T	G	4: 143,419,009	S349R	probably benign	Het
Prl8a1	A	T	13: 27,579,819		probably null	Het
Ryr2	G	T	13: 11,662,130	N3278K	probably benign	Het
Sacm1l	A	G	9: 123,577,025	M324V	probably benign	Het
Sdad1	T	C	5: 92,303,934	T143A	probably benign	Het
Sec11a	A	T	7: 80,923,064		probably benign	Het
Sema6a	A	G	18: 47,291,172	V223A	probably damaging	Het
Serpinb6c	A	G	13: 33,880,097	V325A	probably damaging	Het
Slc4a2	G	A	5: 24,430,127	A177T	possibly damaging	Het
Stard13	C	T	5: 151,062,767	W308*	probably null	Het
Tanc2	C	T	11: 105,857,553	L504F	possibly damaging	Het
Tfap2e	G	T	4: 126,720,544	N282K	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,789,355	I48T	probably damaging	Het
Usp36	G	T	11: 118,264,905	T682K	possibly damaging	Het
Zc3h11a	T	C	1: 133,633,789	T315A	probably benign	Het
Zfa-ps	T	A	10: 52,543,022		noncoding transcript	Het
Zfp663	A	T	2: 165,353,670	C210S	possibly damaging	Het
Zfp747	T	C	7: 127,374,394	I201M	probably damaging	Het
Zic4	C	T	9: 91,384,152	T276M	probably damaging	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Slc5a4a	APN	10	76163733	missense	probably damaging	1.00
IGL01725:Slc5a4a	APN	10	76181674	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	76147579	missense	unknown
IGL02976:Slc5a4a	APN	10	76170693	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	76150512	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	76150552	missense	possibly damaging	0.81
R0054:Slc5a4a	UTSW	10	76178197	missense	probably null	0.00
R0244:Slc5a4a	UTSW	10	76189152	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76182722	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76176534	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76178161	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76186528	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76189269	splice site	probably null
R1857:Slc5a4a	UTSW	10	76166735	missense	probably benign	0.27
R1858:Slc5a4a	UTSW	10	76166735	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76166735	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	76147588	missense	unknown
R2016:Slc5a4a	UTSW	10	76153580	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76178081	splice site	probably null
R3420:Slc5a4a	UTSW	10	76176573	missense	probably benign	0.00
R3421:Slc5a4a	UTSW	10	76176573	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76176573	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76189149	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76181655	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	76148362	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76178095	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76178095	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76186564	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76178231	missense	probably damaging	0.98
R5254:Slc5a4a	UTSW	10	76182738	nonsense	probably null
R6083:Slc5a4a	UTSW	10	76147597	missense	unknown
R6331:Slc5a4a	UTSW	10	76178200	missense	probably damaging	0.98
R7591:Slc5a4a	UTSW	10	76147667	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	76147550	missense	unknown
R8785:Slc5a4a	UTSW	10	76150404	critical splice acceptor site	probably benign
R8929:Slc5a4a	UTSW	10	76170783	missense	probably benign	0.27
R8993:Slc5a4a	UTSW	10	76186535	missense	probably benign	0.15
R9018:Slc5a4a	UTSW	10	76166712	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	76150404	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76186562	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76166774	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76166744	missense	probably benign	0.01
Z1177:Slc5a4a	UTSW	10	76182847	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTTTAAAGGTCTCCAGTGCG -3'
(R):5'- AACTTTTCCAGGCAGAAAGACC -3'

Sequencing Primer
(F):5'- TTTAAAGGTCTCCAGTGCGTAGAAG -3'
(R):5'- GACCTTGGAAAAACCTTTGTCTCAGC -3'

Posted On

2016-06-21