Mutagenetix > Incidental Mutation

Incidental Mutation 'R8217:Slc9a5'

636423

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

067658-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R8217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106075475-106096513 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106089956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 638 (E638V)

Ref Sequence

ENSEMBL: ENSMUSP00000072893 (fasta)

Gene Model

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

AlphaFold

B2RXE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000073149
AA Change: E638V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786
AA Change: E638V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,037,921 (GRCm39)	L406P	probably damaging	Het
Aph1b	T	C	9: 66,686,554 (GRCm39)	K239E	possibly damaging	Het
Atp13a4	C	A	16: 29,222,619 (GRCm39)	V1102F		Het
B3gat1	G	A	9: 26,668,165 (GRCm39)	A265T	probably damaging	Het
Bod1l	T	C	5: 41,988,850 (GRCm39)	E419G	probably damaging	Het
Ccdc142	T	C	6: 83,080,197 (GRCm39)	L380P	probably damaging	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cfi	A	C	3: 129,648,650 (GRCm39)	N178T	possibly damaging	Het
Col5a1	T	A	2: 27,812,135 (GRCm39)	D72E	unknown	Het
Cspg4	T	A	9: 56,797,637 (GRCm39)	V1367D	possibly damaging	Het
D5Ertd579e	A	C	5: 36,771,402 (GRCm39)	S998A	probably benign	Het
Ehf	T	C	2: 103,109,976 (GRCm39)	E77G	possibly damaging	Het
Erap1	T	C	13: 74,820,937 (GRCm39)	I662T	probably benign	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Klhl8	A	G	5: 104,015,466 (GRCm39)	V486A	possibly damaging	Het
Lrrc72	A	T	12: 36,258,676 (GRCm39)	D60E	probably damaging	Het
Marchf5	C	T	19: 37,185,210 (GRCm39)		probably benign	Het
Mtmr12	T	C	15: 12,259,726 (GRCm39)	I365T	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nod2	A	C	8: 89,390,785 (GRCm39)	D364A	probably benign	Het
Numa1	T	A	7: 101,641,876 (GRCm39)	M108K	possibly damaging	Het
Nutm2	G	T	13: 50,623,759 (GRCm39)	R152L	probably benign	Het
Or14c43	A	G	7: 86,115,390 (GRCm39)	Y257C	probably damaging	Het
Or2t46	A	T	11: 58,471,792 (GRCm39)	M41L	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pak1ip1	T	A	13: 41,166,126 (GRCm39)	S350R	probably benign	Het
Pcdha3	T	C	18: 37,079,974 (GRCm39)	F239L	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,586,092 (GRCm39)	T524I	possibly damaging	Het
Plekhg2	T	A	7: 28,067,717 (GRCm39)	Q245L	probably null	Het
Pola2	T	A	19: 6,013,855 (GRCm39)	K26N	possibly damaging	Het
Prune2	G	T	19: 17,097,480 (GRCm39)	A995S	probably benign	Het
Rap2b	C	A	3: 61,272,551 (GRCm39)	T25K	possibly damaging	Het
Scrib	A	G	15: 75,939,004 (GRCm39)	S165P	probably damaging	Het
Sdk1	A	T	5: 142,197,713 (GRCm39)	H2122L	possibly damaging	Het
Sec24b	A	T	3: 129,834,599 (GRCm39)	F200I	possibly damaging	Het
Sh3rf1	T	C	8: 61,782,964 (GRCm39)	V226A	possibly damaging	Het
Sik1	T	A	17: 32,070,286 (GRCm39)	H141L	probably damaging	Het
Slco1a5	A	G	6: 142,221,202 (GRCm39)	C15R	probably benign	Het
Slit1	C	T	19: 41,612,959 (GRCm39)	D854N	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tec	A	T	5: 72,921,602 (GRCm39)	M372K	probably benign	Het
Tlr2	A	G	3: 83,745,373 (GRCm39)	F237L	probably benign	Het
Trio	A	T	15: 27,819,055 (GRCm39)	L1597Q	probably damaging	Het
Trpa1	A	T	1: 14,957,247 (GRCm39)	M723K	probably damaging	Het
Ttc21a	T	C	9: 119,783,694 (GRCm39)	I592T	probably benign	Het
Vmn2r94	T	C	17: 18,463,986 (GRCm39)	E768G	probably damaging	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zpld1	A	G	16: 55,047,295 (GRCm39)		probably null	Het

Other mutations in Slc9a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02105:Slc9a5	APN	8	106,076,075 (GRCm39)	missense	probably damaging	0.99
IGL02339:Slc9a5	APN	8	106,085,091 (GRCm39)	missense	probably damaging	1.00
IGL03220:Slc9a5	APN	8	106,094,652 (GRCm39)	missense	probably benign	0.09
stein	UTSW	8	106,091,316 (GRCm39)	missense	probably benign	0.00
P0026:Slc9a5	UTSW	8	106,081,923 (GRCm39)	missense	probably damaging	1.00
R0680:Slc9a5	UTSW	8	106,082,539 (GRCm39)	missense	probably null	1.00
R0990:Slc9a5	UTSW	8	106,086,078 (GRCm39)	missense	probably damaging	1.00
R1440:Slc9a5	UTSW	8	106,081,785 (GRCm39)	missense	possibly damaging	0.91
R1625:Slc9a5	UTSW	8	106,094,755 (GRCm39)	missense	possibly damaging	0.88
R1737:Slc9a5	UTSW	8	106,094,766 (GRCm39)	missense	probably damaging	1.00
R4169:Slc9a5	UTSW	8	106,084,032 (GRCm39)	missense	possibly damaging	0.77
R4209:Slc9a5	UTSW	8	106,085,103 (GRCm39)	missense	possibly damaging	0.89
R4210:Slc9a5	UTSW	8	106,085,103 (GRCm39)	missense	possibly damaging	0.89
R4211:Slc9a5	UTSW	8	106,085,103 (GRCm39)	missense	possibly damaging	0.89
R4345:Slc9a5	UTSW	8	106,076,087 (GRCm39)	missense	probably benign
R4665:Slc9a5	UTSW	8	106,094,760 (GRCm39)	missense	probably damaging	1.00
R5058:Slc9a5	UTSW	8	106,082,490 (GRCm39)	missense	probably benign	0.03
R5553:Slc9a5	UTSW	8	106,083,672 (GRCm39)	missense	probably damaging	1.00
R5574:Slc9a5	UTSW	8	106,091,323 (GRCm39)	missense	probably benign	0.12
R5631:Slc9a5	UTSW	8	106,076,141 (GRCm39)	missense	possibly damaging	0.73
R5645:Slc9a5	UTSW	8	106,083,645 (GRCm39)	missense	probably benign	0.00
R5856:Slc9a5	UTSW	8	106,083,797 (GRCm39)	missense	possibly damaging	0.58
R5907:Slc9a5	UTSW	8	106,083,807 (GRCm39)	critical splice donor site	probably null
R6481:Slc9a5	UTSW	8	106,085,025 (GRCm39)	nonsense	probably null
R6799:Slc9a5	UTSW	8	106,090,600 (GRCm39)	missense	possibly damaging	0.84
R6834:Slc9a5	UTSW	8	106,091,316 (GRCm39)	missense	probably benign	0.00
R6938:Slc9a5	UTSW	8	106,080,064 (GRCm39)	missense	probably damaging	1.00
R7064:Slc9a5	UTSW	8	106,076,078 (GRCm39)	missense	possibly damaging	0.91
R7095:Slc9a5	UTSW	8	106,084,268 (GRCm39)	missense	probably benign	0.16
R7152:Slc9a5	UTSW	8	106,095,025 (GRCm39)	missense	probably benign	0.03
R7303:Slc9a5	UTSW	8	106,083,345 (GRCm39)	missense	probably damaging	0.99
R7508:Slc9a5	UTSW	8	106,089,885 (GRCm39)	splice site	probably null
R7583:Slc9a5	UTSW	8	106,089,904 (GRCm39)	missense	possibly damaging	0.62
R7895:Slc9a5	UTSW	8	106,089,998 (GRCm39)	missense	probably damaging	1.00
R8077:Slc9a5	UTSW	8	106,086,012 (GRCm39)	missense	probably damaging	1.00
R8751:Slc9a5	UTSW	8	106,085,981 (GRCm39)	missense	probably damaging	1.00
R9170:Slc9a5	UTSW	8	106,080,139 (GRCm39)	missense	probably damaging	1.00
X0058:Slc9a5	UTSW	8	106,081,937 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATGGTGAACTCTGGAAAC -3'
(R):5'- AAGCATCTCCTCGAGCTGAG -3'

Sequencing Primer
(F):5'- TGGAAACGCCAGGCTGG -3'
(R):5'- CATCTCCTCGAGCTGAGTTGAG -3'

Posted On

2020-07-13