Mutagenetix > Incidental Mutation

Incidental Mutation 'R1857:Slc5a4a'

206250

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

039881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76166735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 242 (S242P)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020450
AA Change: S242P

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: S242P

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

0.1672

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	A	8: 111,040,157 (GRCm38)	I57N	probably damaging	Het
Abca15	T	C	7: 120,361,369 (GRCm38)	S685P	probably damaging	Het
Adpgk	G	T	9: 59,314,965 (GRCm38)	V392L	probably benign	Het
Akap14	C	T	X: 37,157,126 (GRCm38)	A476T	probably damaging	Het
Amdhd1	A	T	10: 93,531,554 (GRCm38)	I246N	probably damaging	Het
Amhr2	T	A	15: 102,446,777 (GRCm38)	L165*	probably null	Het
Atr	T	A	9: 95,865,097 (GRCm38)	I144N	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,573 (GRCm38)	Y410C	probably damaging	Het
C87977	C	T	4: 144,208,521 (GRCm38)	V217I	possibly damaging	Het
Ccdc33	T	C	9: 58,032,708 (GRCm38)	N750S	possibly damaging	Het
Cdh23	A	G	10: 60,323,297 (GRCm38)	I2233T	probably damaging	Het
Cfap46	C	A	7: 139,653,408 (GRCm38)	V774F	probably damaging	Het
Cfap69	G	T	5: 5,582,518 (GRCm38)	T362K	possibly damaging	Het
Cnih3	A	G	1: 181,450,073 (GRCm38)	H101R	probably damaging	Het
Crebrf	T	A	17: 26,742,963 (GRCm38)	Y345N	probably benign	Het
Cyb5r4	C	T	9: 87,041,279 (GRCm38)	S185L	probably benign	Het
Cyp2j5	T	C	4: 96,659,486 (GRCm38)	E173G	possibly damaging	Het
Cyp3a41b	T	A	5: 145,566,850 (GRCm38)	I296F	probably benign	Het
Dse	T	C	10: 34,153,229 (GRCm38)	T622A	probably benign	Het
Dync1h1	T	A	12: 110,662,625 (GRCm38)	F4205L	probably damaging	Het
Eif3a	A	C	19: 60,782,197 (GRCm38)	L71V	probably damaging	Het
Eif3h	T	C	15: 51,799,278 (GRCm38)	Y124C	probably damaging	Het
Eif4g3	A	T	4: 138,175,876 (GRCm38)	Q1169L	possibly damaging	Het
Endod1	T	A	9: 14,357,109 (GRCm38)	H360L	probably benign	Het
Fbxo38	A	G	18: 62,515,418 (GRCm38)	I683T	probably damaging	Het
Frem2	T	A	3: 53,654,873 (GRCm38)	T738S	probably benign	Het
Gm1527	A	T	3: 28,903,390 (GRCm38)	T148S	probably damaging	Het
Gm4894	T	C	9: 49,278,676 (GRCm38)	S84P	unknown	Het
Gm4981	A	G	10: 58,235,780 (GRCm38)	V204A	probably benign	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Il1f10	A	T	2: 24,292,805 (GRCm38)	D31V	possibly damaging	Het
Lrrc56	A	G	7: 141,207,508 (GRCm38)	M353V	probably benign	Het
Meiob	T	C	17: 24,823,570 (GRCm38)	V124A	probably damaging	Het
Mmp11	A	T	10: 75,928,357 (GRCm38)	D91E	probably benign	Het
Mpped2	T	C	2: 106,783,644 (GRCm38)	Y108H	probably damaging	Het
Mroh9	A	G	1: 163,039,145 (GRCm38)	V674A	probably damaging	Het
Mtor	G	T	4: 148,480,879 (GRCm38)	Q1015H	probably damaging	Het
Mylk3	G	A	8: 85,328,594 (GRCm38)	T711I	probably damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm38)	H277Q	probably benign	Het
Neurl4	G	T	11: 69,905,535 (GRCm38)	G435V	probably damaging	Het
Nipal2	A	G	15: 34,678,633 (GRCm38)	S21P	possibly damaging	Het
Nphp1	T	A	2: 127,770,376 (GRCm38)	D217V	probably benign	Het
Nphp3	T	C	9: 104,021,294 (GRCm38)	I432T	possibly damaging	Het
Olfr1123	T	C	2: 87,418,648 (GRCm38)	L198P	probably damaging	Het
Olfr1367	A	G	13: 21,347,176 (GRCm38)	M83V	possibly damaging	Het
Olfr681	T	G	7: 105,121,544 (GRCm38)	L29R	probably benign	Het
Oprd1	T	G	4: 132,113,681 (GRCm38)	D322A	probably damaging	Het
Pcdh10	C	A	3: 45,379,937 (GRCm38)	Q229K	possibly damaging	Het
Pdlim7	G	A	13: 55,506,045 (GRCm38)	T253M	probably damaging	Het
Pfdn1	C	A	18: 36,451,100 (GRCm38)	M60I	probably benign	Het
Pigc	T	G	1: 161,970,877 (GRCm38)	S143A	possibly damaging	Het
Pkd1l2	T	C	8: 117,040,669 (GRCm38)	D1294G	possibly damaging	Het
Ppp2r1a	T	C	17: 20,961,689 (GRCm38)	S490P	possibly damaging	Het
Ppp2r3a	T	A	9: 101,212,893 (GRCm38)	N77I	probably damaging	Het
Prl7a2	A	T	13: 27,659,180 (GRCm38)	C213*	probably null	Het
Prpf8	T	A	11: 75,495,423 (GRCm38)		probably null	Het
Psmd7	A	T	8: 107,584,893 (GRCm38)	N109K	probably damaging	Het
Ptprn	T	C	1: 75,247,905 (GRCm38)	K936E	possibly damaging	Het
Ror1	A	T	4: 100,441,503 (GRCm38)	Q691L	probably damaging	Het
Sars2	A	G	7: 28,750,012 (GRCm38)	M322V	probably benign	Het
Scfd2	C	A	5: 74,212,301 (GRCm38)	E638*	probably null	Het
Scgb3a2	A	G	18: 43,766,835 (GRCm38)	T63A	probably benign	Het
Smarcd1	A	G	15: 99,709,414 (GRCm38)	K382E	probably damaging	Het
Sox5	T	A	6: 143,960,815 (GRCm38)	S305C	probably damaging	Het
Sp5	C	A	2: 70,476,869 (GRCm38)	H299Q	possibly damaging	Het
Stard13	T	C	5: 151,095,438 (GRCm38)	Y60C	probably damaging	Het
Tmprss6	A	G	15: 78,452,552 (GRCm38)	F383L	probably damaging	Het
Trove2	T	C	1: 143,770,750 (GRCm38)	T86A	probably benign	Het
Ttc23	T	C	7: 67,679,073 (GRCm38)		probably null	Het
Ugt2b34	T	C	5: 86,904,382 (GRCm38)	T252A	possibly damaging	Het
Vangl2	A	T	1: 172,009,897 (GRCm38)	L115Q	probably damaging	Het
Vmn1r42	A	G	6: 89,844,615 (GRCm38)	I324T	probably benign	Het
Vwa5b1	A	G	4: 138,569,102 (GRCm38)	F1205L	probably damaging	Het
Zfp951	G	C	5: 104,814,857 (GRCm38)	T281R	probably damaging	Het
Zscan30	A	G	18: 23,971,467 (GRCm38)		noncoding transcript	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Slc5a4a	APN	10	76,163,733 (GRCm38)	missense	probably damaging	1.00
IGL01725:Slc5a4a	APN	10	76,181,674 (GRCm38)	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	76,147,579 (GRCm38)	missense	unknown
IGL02976:Slc5a4a	APN	10	76,170,693 (GRCm38)	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	76,150,512 (GRCm38)	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	76,150,552 (GRCm38)	missense	possibly damaging	0.81
R0054:Slc5a4a	UTSW	10	76,178,197 (GRCm38)	missense	probably null	0.00
R0244:Slc5a4a	UTSW	10	76,189,152 (GRCm38)	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76,182,722 (GRCm38)	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76,176,534 (GRCm38)	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76,178,161 (GRCm38)	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76,186,528 (GRCm38)	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76,189,269 (GRCm38)	splice site	probably null
R1858:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	76,147,588 (GRCm38)	missense	unknown
R2016:Slc5a4a	UTSW	10	76,153,580 (GRCm38)	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76,178,081 (GRCm38)	splice site	probably null
R3420:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3421:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76,189,149 (GRCm38)	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76,181,655 (GRCm38)	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	76,148,362 (GRCm38)	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76,178,095 (GRCm38)	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76,178,095 (GRCm38)	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76,186,564 (GRCm38)	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76,178,231 (GRCm38)	missense	probably damaging	0.98
R5135:Slc5a4a	UTSW	10	76,147,594 (GRCm38)	missense	unknown
R5254:Slc5a4a	UTSW	10	76,182,738 (GRCm38)	nonsense	probably null
R6083:Slc5a4a	UTSW	10	76,147,597 (GRCm38)	missense	unknown
R6331:Slc5a4a	UTSW	10	76,178,200 (GRCm38)	missense	probably damaging	0.98
R7591:Slc5a4a	UTSW	10	76,147,667 (GRCm38)	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	76,147,550 (GRCm38)	missense	unknown
R8785:Slc5a4a	UTSW	10	76,150,404 (GRCm38)	critical splice acceptor site	probably benign
R8929:Slc5a4a	UTSW	10	76,170,783 (GRCm38)	missense	probably benign	0.27
R8993:Slc5a4a	UTSW	10	76,186,535 (GRCm38)	missense	probably benign	0.15
R9018:Slc5a4a	UTSW	10	76,166,712 (GRCm38)	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	76,150,404 (GRCm38)	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76,186,562 (GRCm38)	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76,166,774 (GRCm38)	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76,182,847 (GRCm38)	nonsense	probably null
Z1177:Slc5a4a	UTSW	10	76,166,744 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATTTGACCTGTTGCCAGTGG -3'
(R):5'- TACACGCATGCGCACTTAC -3'

Sequencing Primer
(F):5'- CACAGAAAGCCATGGATCAGG -3'
(R):5'- ATGCGCACTTACTCACTTACCTGG -3'

Posted On

2014-06-23