Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02377:Slc9a7'

291196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc9a7

Ensembl Gene

ENSMUSG00000037341

Gene Name

solute carrier family 9 (sodium/hydrogen exchanger), member 7

Synonyms

A530087D17Rik, NHE7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL02377

Quality Score

Status

Chromosome

Chromosomal Location

19971993-20158046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20068963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 197 (Y197H)

Ref Sequence

ENSEMBL: ENSMUSP00000111051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072451] [ENSMUST00000115393]

AlphaFold

Q8BLV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072451
AA Change: Y197H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072274
Gene: ENSMUSG00000037341
AA Change: Y197H

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Na_H_Exchanger	77	535	2e-94	PFAM
low complexity region	563	573	N/A	INTRINSIC
low complexity region	676	685	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115393
AA Change: Y197H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111051
Gene: ENSMUSG00000037341
AA Change: Y197H

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Na_H_Exchanger	77	535	8.6e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151845

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,937,689 (GRCm39)		probably benign	Het
Abca15	T	C	7: 119,965,133 (GRCm39)		probably benign	Het
App	T	C	16: 84,879,719 (GRCm39)	Q138R	probably benign	Het
Asah2	T	A	19: 31,986,814 (GRCm39)	I529F	probably benign	Het
Atp8b3	A	G	10: 80,356,128 (GRCm39)	S1195P	probably benign	Het
Brca1	A	G	11: 101,415,149 (GRCm39)	M134T	probably benign	Het
Cacna1s	T	C	1: 135,996,732 (GRCm39)	L111P	probably damaging	Het
Capns2	A	T	8: 93,628,215 (GRCm39)	N35Y	probably benign	Het
Ccne1	A	G	7: 37,798,415 (GRCm39)		probably null	Het
Cfap91	G	T	16: 38,153,181 (GRCm39)		probably benign	Het
Csf1r	G	T	18: 61,257,540 (GRCm39)		probably benign	Het
Dipk2b	T	A	X: 18,313,930 (GRCm39)	I131F	possibly damaging	Het
Dlg3	A	T	X: 99,817,007 (GRCm39)	Y326F	possibly damaging	Het
Dnah8	T	C	17: 31,013,770 (GRCm39)	V3837A	probably damaging	Het
Dock10	A	G	1: 80,562,711 (GRCm39)		probably null	Het
Emg1	A	G	6: 124,681,620 (GRCm39)	V208A	probably benign	Het
Eml6	T	A	11: 29,727,282 (GRCm39)	D1280V	probably damaging	Het
Ep400	T	C	5: 110,868,691 (GRCm39)	D911G	unknown	Het
Fam171a1	T	C	2: 3,224,623 (GRCm39)		probably null	Het
Fcgbp	T	C	7: 27,806,395 (GRCm39)	V2121A	possibly damaging	Het
Fggy	G	A	4: 95,511,714 (GRCm39)		probably benign	Het
Fignl1	G	T	11: 11,752,845 (GRCm39)	T70K	possibly damaging	Het
Fndc3b	T	C	3: 27,674,801 (GRCm39)	E47G	probably damaging	Het
Frmd4a	A	G	2: 4,539,385 (GRCm39)	K189E	possibly damaging	Het
Hpse	T	A	5: 100,839,199 (GRCm39)	Y383F	probably damaging	Het
Ip6k2	T	C	9: 108,681,798 (GRCm39)	L197P	probably damaging	Het
Klf1	A	C	8: 85,631,561 (GRCm39)	H375P	probably damaging	Het
Krtap6-5	T	A	16: 88,844,734 (GRCm39)		probably benign	Het
Lacc1	A	T	14: 77,267,055 (GRCm39)	S403T	probably damaging	Het
Lama3	A	G	18: 12,689,807 (GRCm39)	I2850V	possibly damaging	Het
Lats2	C	T	14: 57,929,052 (GRCm39)	R941Q	probably damaging	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrig3	A	T	10: 125,850,743 (GRCm39)	H1103L	probably benign	Het
Lrrc40	G	A	3: 157,742,365 (GRCm39)	M1I	probably null	Het
Magee2	A	T	X: 103,900,399 (GRCm39)	V84D	possibly damaging	Het
Msantd2	G	A	9: 37,434,602 (GRCm39)	V281I	possibly damaging	Het
Mycbpap	A	G	11: 94,394,076 (GRCm39)	V340A	probably damaging	Het
Myh6	A	T	14: 55,181,775 (GRCm39)	M1842K	probably benign	Het
Mylk4	T	C	13: 32,906,130 (GRCm39)	D145G	possibly damaging	Het
Nfkbid	C	T	7: 30,124,689 (GRCm39)	Q160*	probably null	Het
Or11h6	T	A	14: 50,879,975 (GRCm39)		probably null	Het
Or2y1d	A	T	11: 49,321,859 (GRCm39)	K185N	probably damaging	Het
Or5w1b	T	A	2: 87,475,630 (GRCm39)	Y279F	probably damaging	Het
Or7e168	C	T	9: 19,720,343 (GRCm39)	S243F	probably damaging	Het
Or8c11	A	T	9: 38,289,542 (GRCm39)	T122S	probably damaging	Het
Or9q2	T	G	19: 13,772,693 (GRCm39)	Q94P	possibly damaging	Het
Pdgfrb	A	C	18: 61,213,404 (GRCm39)	Q916P	probably damaging	Het
Pex14	T	C	4: 149,050,743 (GRCm39)	Q174R	probably benign	Het
Pogz	T	C	3: 94,786,321 (GRCm39)	S970P	probably damaging	Het
Potegl	T	C	2: 23,102,667 (GRCm39)		probably benign	Het
Rabggta	A	G	14: 55,955,952 (GRCm39)	V165A	possibly damaging	Het
Rdh10	G	A	1: 16,176,438 (GRCm39)	W66*	probably null	Het
Ripor2	T	A	13: 24,879,549 (GRCm39)		probably benign	Het
Slc35g1	T	A	19: 38,391,678 (GRCm39)	M320K	possibly damaging	Het
Smn1	T	C	13: 100,272,192 (GRCm39)		probably benign	Het
Spam1	G	A	6: 24,796,696 (GRCm39)	G216S	probably damaging	Het
Spata31	A	T	13: 65,068,194 (GRCm39)	N114I	probably damaging	Het
Sptbn1	A	T	11: 30,069,491 (GRCm39)	V1615D	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc2	T	A	X: 40,914,355 (GRCm39)	Q1005H	possibly damaging	Het
Thra	G	A	11: 98,652,742 (GRCm39)	R189Q	probably damaging	Het
Trappc11	A	T	8: 47,983,685 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,882,934 (GRCm39)	H886Q	probably damaging	Het
Zfp157	G	A	5: 138,445,859 (GRCm39)	W71*	probably null	Het

Other mutations in Slc9a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slc9a7	APN	X	20,005,158 (GRCm39)	missense	probably damaging	1.00
IGL00743:Slc9a7	APN	X	19,972,260 (GRCm39)	missense	possibly damaging	0.81
IGL02960:Slc9a7	APN	X	20,052,382 (GRCm39)	missense	probably benign	0.17
IGL03029:Slc9a7	APN	X	20,157,608 (GRCm39)	missense	probably benign	0.00
R0539:Slc9a7	UTSW	X	20,069,001 (GRCm39)	missense	probably damaging	1.00
R0648:Slc9a7	UTSW	X	20,028,659 (GRCm39)	unclassified	probably benign
R1750:Slc9a7	UTSW	X	20,028,717 (GRCm39)	missense	probably damaging	0.97
R3891:Slc9a7	UTSW	X	20,052,352 (GRCm39)	missense	probably damaging	0.99
R4067:Slc9a7	UTSW	X	20,071,793 (GRCm39)	missense	probably damaging	1.00
X0018:Slc9a7	UTSW	X	20,157,879 (GRCm39)	missense	probably benign
Z1176:Slc9a7	UTSW	X	20,157,978 (GRCm39)	start gained	probably benign
Z1176:Slc9a7	UTSW	X	20,052,298 (GRCm39)	critical splice donor site	probably null
Z1177:Slc9a7	UTSW	X	20,157,827 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16