Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Slc9a5'

391026

Institutional Source

Beutler Lab

Gene Symbol

Slc9a5

Ensembl Gene

ENSMUSG00000014786

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 5

Synonyms

LOC277973

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5058 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

105348843-105369881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105355858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 252 (V252L)

Ref Sequence

ENSEMBL: ENSMUSP00000072893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073149]

AlphaFold

B2RXE2

Predicted Effect

probably benign
Transcript: ENSMUST00000073149
AA Change: V252L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: V252L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	39	N/A	INTRINSIC
Pfam:Na_H_Exchanger	53	458	9.8e-89	PFAM
low complexity region	705	723	N/A	INTRINSIC
low complexity region	807	823	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212772

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Slc9a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02105:Slc9a5	APN	8	105349443	missense	probably damaging	0.99
IGL02339:Slc9a5	APN	8	105358459	missense	probably damaging	1.00
IGL03220:Slc9a5	APN	8	105368020	missense	probably benign	0.09
stein	UTSW	8	105364684	missense	probably benign	0.00
P0026:Slc9a5	UTSW	8	105355291	missense	probably damaging	1.00
R0680:Slc9a5	UTSW	8	105355907	missense	probably null	1.00
R0990:Slc9a5	UTSW	8	105359446	missense	probably damaging	1.00
R1440:Slc9a5	UTSW	8	105355153	missense	possibly damaging	0.91
R1625:Slc9a5	UTSW	8	105368123	missense	possibly damaging	0.88
R1737:Slc9a5	UTSW	8	105368134	missense	probably damaging	1.00
R4169:Slc9a5	UTSW	8	105357400	missense	possibly damaging	0.77
R4209:Slc9a5	UTSW	8	105358471	missense	possibly damaging	0.89
R4210:Slc9a5	UTSW	8	105358471	missense	possibly damaging	0.89
R4211:Slc9a5	UTSW	8	105358471	missense	possibly damaging	0.89
R4345:Slc9a5	UTSW	8	105349455	missense	probably benign
R4665:Slc9a5	UTSW	8	105368128	missense	probably damaging	1.00
R5553:Slc9a5	UTSW	8	105357040	missense	probably damaging	1.00
R5574:Slc9a5	UTSW	8	105364691	missense	probably benign	0.12
R5631:Slc9a5	UTSW	8	105349509	missense	possibly damaging	0.73
R5645:Slc9a5	UTSW	8	105357013	missense	probably benign	0.00
R5856:Slc9a5	UTSW	8	105357165	missense	possibly damaging	0.58
R5907:Slc9a5	UTSW	8	105357175	critical splice donor site	probably null
R6481:Slc9a5	UTSW	8	105358393	nonsense	probably null
R6799:Slc9a5	UTSW	8	105363968	missense	possibly damaging	0.84
R6834:Slc9a5	UTSW	8	105364684	missense	probably benign	0.00
R6938:Slc9a5	UTSW	8	105353432	missense	probably damaging	1.00
R7064:Slc9a5	UTSW	8	105349446	missense	possibly damaging	0.91
R7095:Slc9a5	UTSW	8	105357636	missense	probably benign	0.16
R7152:Slc9a5	UTSW	8	105368393	missense	probably benign	0.03
R7303:Slc9a5	UTSW	8	105356713	missense	probably damaging	0.99
R7508:Slc9a5	UTSW	8	105363253	splice site	probably null
R7583:Slc9a5	UTSW	8	105363272	missense	possibly damaging	0.62
R7895:Slc9a5	UTSW	8	105363366	missense	probably damaging	1.00
R8077:Slc9a5	UTSW	8	105359380	missense	probably damaging	1.00
R8217:Slc9a5	UTSW	8	105363324	missense	probably damaging	0.97
R8751:Slc9a5	UTSW	8	105359349	missense	probably damaging	1.00
R9170:Slc9a5	UTSW	8	105353507	missense	probably damaging	1.00
X0058:Slc9a5	UTSW	8	105355305	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAGGCTATTCCGATGTCTC -3'
(R):5'- AGGACTCACGCAAGAATGGC -3'

Sequencing Primer
(F):5'- CCTCTATGGAGAAATGGGGTC -3'
(R):5'- CACGCAAGAATGGCGGACAAC -3'

Posted On

2016-06-06