Mutagenetix > Incidental Mutation

Incidental Mutation 'R4415:Slc15a5'

326790

Institutional Source

Beutler Lab

Gene Symbol

Slc15a5

Ensembl Gene

ENSMUSG00000044378

Gene Name

solute carrier family 15, member 5

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137983586-138079916 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138079756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 54 (V54A)

Ref Sequence

ENSEMBL: ENSMUSP00000129239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171804]

AlphaFold

Q8CBB2

Predicted Effect

probably benign
Transcript: ENSMUST00000171804
AA Change: V54A

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129239
Gene: ENSMUSG00000044378
AA Change: V54A

Domain	Start	End	E-Value	Type
Pfam:PTR2	101	485	4.3e-23	PFAM
low complexity region	536	543	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
Ace3	A	T	11: 106,005,121	D631V	probably benign	Het
Adam17	T	C	12: 21,345,701	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,865,451	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,017,417	*233R	probably null	Het
Bcl9l	C	T	9: 44,501,879	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,030,861	D2215G	probably damaging	Het
Caly	T	C	7: 140,072,680	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,696,309	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Colq	T	C	14: 31,535,688	K231E	probably damaging	Het
Fam32a	T	A	8: 72,221,941	I77N	probably damaging	Het
Gm597	T	A	1: 28,777,133	Q606L	probably benign	Het
Impdh1	C	T	6: 29,209,222	V49M	probably damaging	Het
Kcnh7	A	G	2: 62,706,073	I1055T	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lama2	G	T	10: 26,989,344	Y947*	probably null	Het
Myo5b	T	A	18: 74,580,408	I108N	probably damaging	Het
Nvl	T	C	1: 181,105,114	T713A	probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Pappa	A	G	4: 65,305,295	T1236A	probably benign	Het
Rcl1	G	A	19: 29,118,362	V116I	probably benign	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Rfx2	T	A	17: 56,787,733	T204S	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor1	T	C	8: 105,617,976	S581P	probably benign	Het
Rnf213	T	A	11: 119,483,964	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,526,693	V1077E	probably damaging	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Snx19	T	A	9: 30,437,483	L804Q	probably damaging	Het
Specc1l	C	A	10: 75,246,328	N519K	possibly damaging	Het
Stambp	A	T	6: 83,557,482	N274K	probably damaging	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Tacc3	T	G	5: 33,666,684		probably null	Het
Tmem55a	C	T	4: 14,912,463	R191C	probably damaging	Het
Tubb1	G	A	2: 174,457,673	E383K	probably benign	Het
Ube3b	A	T	5: 114,412,444	D844V	probably damaging	Het

Other mutations in Slc15a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Slc15a5	APN	6	138043538	missense	probably damaging	1.00
IGL02090:Slc15a5	APN	6	138043600	missense	probably benign	0.00
R0288:Slc15a5	UTSW	6	138017916	splice site	probably benign
R0355:Slc15a5	UTSW	6	138018114	splice site	probably benign
R0825:Slc15a5	UTSW	6	138018089	missense	possibly damaging	0.84
R1470:Slc15a5	UTSW	6	138072994	missense	probably benign	0.01
R1470:Slc15a5	UTSW	6	138072994	missense	probably benign	0.01
R1721:Slc15a5	UTSW	6	138072847	splice site	probably benign
R1897:Slc15a5	UTSW	6	138079764	missense	possibly damaging	0.93
R4159:Slc15a5	UTSW	6	138072940	missense	possibly damaging	0.84
R4703:Slc15a5	UTSW	6	138055645	missense	probably benign	0.08
R4951:Slc15a5	UTSW	6	138073066	missense	probably damaging	1.00
R4996:Slc15a5	UTSW	6	138043585	missense	probably damaging	1.00
R5268:Slc15a5	UTSW	6	138079753	missense	probably damaging	1.00
R5310:Slc15a5	UTSW	6	138073036	missense	probably benign	0.28
R5321:Slc15a5	UTSW	6	137987438	missense	probably benign	0.08
R5963:Slc15a5	UTSW	6	138079693	missense	probably damaging	1.00
R5988:Slc15a5	UTSW	6	138043531	missense	probably benign	0.07
R7400:Slc15a5	UTSW	6	138073057	missense	probably benign	0.01
R7515:Slc15a5	UTSW	6	138043498	missense	possibly damaging	0.89
R7604:Slc15a5	UTSW	6	138079786	missense	probably damaging	1.00
R7707:Slc15a5	UTSW	6	138079747	missense	probably damaging	1.00
R8344:Slc15a5	UTSW	6	138079900	missense	probably damaging	1.00
R8410:Slc15a5	UTSW	6	138012155	missense
R9020:Slc15a5	UTSW	6	138055706	missense	probably benign	0.00
R9157:Slc15a5	UTSW	6	137984458	missense
R9222:Slc15a5	UTSW	6	137984452	missense
R9526:Slc15a5	UTSW	6	138072956	missense	probably benign	0.02
Z1188:Slc15a5	UTSW	6	138017958	missense

Predicted Primers

PCR Primer
(F):5'- GGGACACTCACCTAGGAAATGTAG -3'
(R):5'- GTGAAATTCTAAGCAGCCGTC -3'

Sequencing Primer
(F):5'- GAGATAAGGCTATGTACATCAGTTTG -3'
(R):5'- TGATAGTCTAGGAAAAGCAGTCATG -3'

Posted On

2015-07-07