Mutagenetix > Incidental Mutation

Incidental Mutation 'R7508:Slc9a5'

585922

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

045581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7508 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106075475-106096513 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 106089885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072893 (fasta)

Gene Model

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

AlphaFold

B2RXE2

Predicted Effect

probably null
Transcript: ENSMUST00000073149

SMART Domains

Protein: ENSMUSP00000072893
Gene: ENSMUSG00000014786

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,174,209 (GRCm39)	A110T	probably benign	Het
Adra1a	A	C	14: 66,875,384 (GRCm39)	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,740,839 (GRCm39)	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,547,707 (GRCm39)	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,851 (GRCm39)	L564V	probably benign	Het
Celsr3	T	A	9: 108,713,821 (GRCm39)	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,473,164 (GRCm39)	M918K	probably benign	Het
Cmtm6	A	G	9: 114,560,308 (GRCm39)	E2G	probably damaging	Het
Ctsg	A	G	14: 56,337,998 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,256 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,807,772 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,614,323 (GRCm39)	R333H	probably benign	Het
Egln3	T	C	12: 54,227,414 (GRCm39)	D239G	probably benign	Het
Eif1ad12	T	C	12: 87,541,612 (GRCm39)	M41T	possibly damaging	Het
Fam13a	A	T	6: 58,964,269 (GRCm39)	D54E	probably damaging	Het
Fn1	A	G	1: 71,636,675 (GRCm39)	V2159A	probably benign	Het
Gcnt2	T	A	13: 41,041,157 (GRCm39)	F105L	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Hacd4	A	G	4: 88,355,715 (GRCm39)	F57L	probably benign	Het
Helb	T	C	10: 119,941,188 (GRCm39)	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,752,062 (GRCm39)	S94F	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Klra7	A	T	6: 130,207,054 (GRCm39)		probably null	Het
Lyl1	T	C	8: 85,430,929 (GRCm39)	V277A	probably benign	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Myo9b	T	C	8: 71,807,445 (GRCm39)	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Odf4	A	T	11: 68,813,249 (GRCm39)	C218S	possibly damaging	Het
Or2b6	T	A	13: 21,822,779 (GRCm39)	I305F	probably benign	Het
Or8u3-ps	A	G	2: 85,952,282 (GRCm39)	N5S	possibly damaging	Het
Pde5a	A	G	3: 122,611,679 (GRCm39)	D571G	probably damaging	Het
Pgc	A	G	17: 48,045,111 (GRCm39)	E343G	probably benign	Het
Pik3cd	A	G	4: 149,739,040 (GRCm39)	F667L	possibly damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,189,896 (GRCm39)	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,036,077 (GRCm39)	N523K	probably benign	Het
Rbm25	T	C	12: 83,719,651 (GRCm39)	L557P	probably damaging	Het
Rhobtb3	C	T	13: 76,026,976 (GRCm39)	V466I	probably benign	Het
Rnpep	A	G	1: 135,206,596 (GRCm39)	V166A	probably benign	Het
Sgo2a	A	G	1: 58,056,954 (GRCm39)	K1046R	probably benign	Het
Slc12a2	T	C	18: 58,037,465 (GRCm39)	V525A	probably benign	Het
Slc1a4	A	T	11: 20,256,487 (GRCm39)	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Spag16	A	T	1: 69,926,679 (GRCm39)	N258I	possibly damaging	Het
Sspo	T	A	6: 48,443,633 (GRCm39)	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,436,152 (GRCm39)	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,035,947 (GRCm39)	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,202,176 (GRCm39)	Y12H	probably benign	Het
Traj6	C	T	14: 54,450,171 (GRCm39)	T9M		Het
Ttll4	A	G	1: 74,726,418 (GRCm39)	N672S	possibly damaging	Het
Ube3a	T	A	7: 58,953,437 (GRCm39)	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,983,205 (GRCm39)	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,470,373 (GRCm39)	V515M	possibly damaging	Het
Wars1	A	G	12: 108,848,801 (GRCm39)	S49P	probably benign	Het
Zbp1	T	A	2: 173,049,604 (GRCm39)	Q386L	possibly damaging	Het
Zfp369	T	C	13: 65,427,087 (GRCm39)	F10S	unknown	Het
Zfp512	C	G	5: 31,630,883 (GRCm39)	I408M	possibly damaging	Het
Zfp952	A	G	17: 33,222,756 (GRCm39)	I412V	probably benign	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
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
R8217:Slc9a5	UTSW	8	106,089,956 (GRCm39)	missense	probably damaging	0.97
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'- CAGGGTCTCTGGCTATATTCC -3'
(R):5'- TTGTTACCAGCCTATAGCCG -3'

Sequencing Primer
(F):5'- CAGGGTCTCTGGCTATATTCCATTTG -3'
(R):5'- TGTTACCAGCCTATAGCCGTAAAGG -3'

Posted On

2019-10-18