Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02732:Slc9c1'

305503

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc9c1

Ensembl Gene

ENSMUSG00000033210

Gene Name

solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1

Synonyms

LOC208169, Slc9a10, spermNHE

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

IGL02732

Quality Score

Status

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45550185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 263 (V263A)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159945]

AlphaFold

Q6UJY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: V263A

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: V263A

Domain	Start	End	E-Value	Type
Pfam:Na_H_Exchanger	40	445	2.3e-31	PFAM
low complexity region	588	602	N/A	INTRINSIC
transmembrane domain	635	654	N/A	INTRINSIC
transmembrane domain	669	686	N/A	INTRINSIC
transmembrane domain	691	713	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC
cNMP	890	1026	4.99e-1	SMART
low complexity region	1161	1175	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162151
AA Change: V234A

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Homozygous null mice display male infertility and asthenozoospermia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoo-ps	C	A	13: 107,414,623 (GRCm38)		noncoding transcript	Het
Ash1l	T	A	3: 88,966,228 (GRCm38)	V106E	probably damaging	Het
Baz2a	A	G	10: 128,125,175 (GRCm38)	T1618A	possibly damaging	Het
Brca1	A	G	11: 101,492,219 (GRCm38)	S1732P	probably benign	Het
Cdh1	T	A	8: 106,666,323 (GRCm38)	I813N	probably damaging	Het
Cdk5rap2	G	A	4: 70,266,665 (GRCm38)	R1183*	probably null	Het
Cep170	C	T	1: 176,736,874 (GRCm38)	E1479K	probably damaging	Het
Cep68	A	T	11: 20,236,109 (GRCm38)		probably benign	Het
Cog7	C	T	7: 121,923,367 (GRCm38)	V750I	probably benign	Het
Cplane1	A	G	15: 8,179,891 (GRCm38)	T271A	probably benign	Het
Cyb5d1	A	C	11: 69,393,809 (GRCm38)		probably null	Het
Dlgap4	A	G	2: 156,749,323 (GRCm38)	K120E	probably benign	Het
Dmtf1	T	C	5: 9,136,098 (GRCm38)	I75V	possibly damaging	Het
Fam103a1	T	C	7: 81,767,725 (GRCm38)		probably null	Het
Fnip2	T	C	3: 79,465,697 (GRCm38)	T995A	probably damaging	Het
Hecw2	G	A	1: 53,926,688 (GRCm38)		probably benign	Het
Il17rd	T	A	14: 27,087,419 (GRCm38)	F111I	probably damaging	Het
Itgb8	A	C	12: 119,163,353 (GRCm38)	M722R	probably benign	Het
Maip1	A	G	1: 57,409,955 (GRCm38)	D165G	probably damaging	Het
Mcm6	A	T	1: 128,359,490 (GRCm38)	C26S	probably benign	Het
Mdp1	T	C	14: 55,659,221 (GRCm38)	I128V	possibly damaging	Het
Myof	A	T	19: 37,977,716 (GRCm38)	F385L	possibly damaging	Het
Nebl	C	T	2: 17,452,484 (GRCm38)		probably benign	Het
Nusap1	A	G	2: 119,635,580 (GRCm38)	E227G	probably damaging	Het
Or4b13	A	G	2: 90,252,308 (GRCm38)	S227P	probably damaging	Het
Or51m1	T	G	7: 103,929,129 (GRCm38)	M102R	probably damaging	Het
Or52e3	A	C	7: 103,220,240 (GRCm38)	N174T	probably benign	Het
Pamr1	A	T	2: 102,642,141 (GRCm38)	H595L	probably benign	Het
Pate5	C	T	9: 35,839,049 (GRCm38)	G109D	probably damaging	Het
Pdgfc	G	A	3: 81,037,557 (GRCm38)		probably benign	Het
Pierce1	T	C	2: 28,465,180 (GRCm38)	N91S	probably damaging	Het
Ptpn22	A	T	3: 103,886,033 (GRCm38)	E500V	probably damaging	Het
Ptprg	G	T	14: 12,225,617 (GRCm38)		probably null	Het
R3hdm2	T	C	10: 127,484,060 (GRCm38)	F513L	probably benign	Het
Rhobtb3	C	A	13: 75,910,937 (GRCm38)	L247F	probably damaging	Het
Scfd1	T	C	12: 51,422,973 (GRCm38)	S434P	probably benign	Het
Serpinb3d	T	A	1: 107,082,796 (GRCm38)		probably null	Het
Sin3b	T	C	8: 72,733,453 (GRCm38)	F223L	possibly damaging	Het
Sntb1	A	G	15: 55,792,200 (GRCm38)	S207P	possibly damaging	Het
Sqor	A	T	2: 122,799,762 (GRCm38)	T1S	possibly damaging	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Ssh2	A	G	11: 77,437,776 (GRCm38)		probably null	Het
Tasor2	A	G	13: 3,573,626 (GRCm38)	V2108A	probably benign	Het
Tmod2	A	G	9: 75,586,172 (GRCm38)	V167A	possibly damaging	Het
Trak2	G	A	1: 58,910,063 (GRCm38)	T526M	probably benign	Het
Trdn	G	A	10: 33,468,199 (GRCm38)		probably null	Het
Trim5	T	A	7: 104,278,465 (GRCm38)	E156V	probably benign	Het
Twf1	A	G	15: 94,581,009 (GRCm38)	S273P	probably damaging	Het
Xylt1	T	C	7: 117,591,937 (GRCm38)	V320A	possibly damaging	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	probably damaging	Het

Other mutations in Slc9c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc9c1	APN	16	45,573,389 (GRCm38)	missense	possibly damaging	0.93
IGL00510:Slc9c1	APN	16	45,539,639 (GRCm38)	missense	probably benign	0.00
IGL00949:Slc9c1	APN	16	45,593,358 (GRCm38)	missense	probably benign
IGL01287:Slc9c1	APN	16	45,584,448 (GRCm38)	nonsense	probably null
IGL01536:Slc9c1	APN	16	45,589,629 (GRCm38)	critical splice donor site	probably null
IGL01655:Slc9c1	APN	16	45,582,972 (GRCm38)	missense	probably benign
IGL01671:Slc9c1	APN	16	45,560,315 (GRCm38)	missense	probably benign
IGL01720:Slc9c1	APN	16	45,555,769 (GRCm38)	missense	probably damaging	1.00
IGL01758:Slc9c1	APN	16	45,541,461 (GRCm38)	missense	probably damaging	1.00
IGL02031:Slc9c1	APN	16	45,599,470 (GRCm38)	missense	probably benign	0.00
IGL02321:Slc9c1	APN	16	45,556,614 (GRCm38)	missense	probably benign	0.02
IGL02472:Slc9c1	APN	16	45,580,142 (GRCm38)	missense	probably benign	0.10
IGL02516:Slc9c1	APN	16	45,577,875 (GRCm38)	missense	probably damaging	0.96
IGL02741:Slc9c1	APN	16	45,581,598 (GRCm38)	missense	possibly damaging	0.48
IGL02795:Slc9c1	APN	16	45,575,419 (GRCm38)	missense	probably benign	0.06
IGL03032:Slc9c1	APN	16	45,543,261 (GRCm38)	splice site	probably benign
IGL03062:Slc9c1	APN	16	45,599,758 (GRCm38)	missense	probably benign	0.20
IGL03184:Slc9c1	APN	16	45,547,640 (GRCm38)	missense	probably damaging	1.00
IGL03351:Slc9c1	APN	16	45,543,168 (GRCm38)	missense	probably benign	0.01
P0041:Slc9c1	UTSW	16	45,550,161 (GRCm38)	missense	possibly damaging	0.65
R0052:Slc9c1	UTSW	16	45,606,856 (GRCm38)	utr 3 prime	probably benign
R0107:Slc9c1	UTSW	16	45,575,420 (GRCm38)	missense	probably benign	0.00
R0255:Slc9c1	UTSW	16	45,554,300 (GRCm38)	missense	probably benign	0.25
R0316:Slc9c1	UTSW	16	45,580,232 (GRCm38)	missense	possibly damaging	0.72
R0437:Slc9c1	UTSW	16	45,599,887 (GRCm38)	splice site	probably benign
R0611:Slc9c1	UTSW	16	45,581,602 (GRCm38)	missense	possibly damaging	0.83
R0624:Slc9c1	UTSW	16	45,573,356 (GRCm38)	missense	probably benign	0.00
R0630:Slc9c1	UTSW	16	45,543,120 (GRCm38)	splice site	probably benign
R1106:Slc9c1	UTSW	16	45,555,807 (GRCm38)	missense	possibly damaging	0.66
R1396:Slc9c1	UTSW	16	45,573,347 (GRCm38)	missense	probably benign	0.43
R1727:Slc9c1	UTSW	16	45,601,961 (GRCm38)	missense	probably benign	0.27
R1732:Slc9c1	UTSW	16	45,552,928 (GRCm38)	missense	probably benign	0.21
R1754:Slc9c1	UTSW	16	45,589,509 (GRCm38)	missense	probably benign	0.11
R1799:Slc9c1	UTSW	16	45,554,289 (GRCm38)	missense	probably damaging	1.00
R1802:Slc9c1	UTSW	16	45,558,281 (GRCm38)	missense	probably benign
R1813:Slc9c1	UTSW	16	45,573,347 (GRCm38)	missense	probably benign	0.43
R1972:Slc9c1	UTSW	16	45,593,472 (GRCm38)	missense	possibly damaging	0.89
R1985:Slc9c1	UTSW	16	45,550,106 (GRCm38)	missense	probably benign	0.01
R1995:Slc9c1	UTSW	16	45,554,255 (GRCm38)	missense	probably damaging	0.99
R2045:Slc9c1	UTSW	16	45,580,250 (GRCm38)	missense	probably damaging	1.00
R2146:Slc9c1	UTSW	16	45,593,464 (GRCm38)	missense	probably benign	0.19
R2511:Slc9c1	UTSW	16	45,544,736 (GRCm38)	missense	possibly damaging	0.79
R3716:Slc9c1	UTSW	16	45,580,219 (GRCm38)	missense	probably benign
R3765:Slc9c1	UTSW	16	45,590,881 (GRCm38)	missense	possibly damaging	0.89
R3936:Slc9c1	UTSW	16	45,606,830 (GRCm38)	utr 3 prime	probably benign
R4051:Slc9c1	UTSW	16	45,543,230 (GRCm38)	missense	probably damaging	1.00
R4302:Slc9c1	UTSW	16	45,544,791 (GRCm38)	missense	probably benign	0.35
R4433:Slc9c1	UTSW	16	45,599,466 (GRCm38)	missense	possibly damaging	0.93
R4651:Slc9c1	UTSW	16	45,547,393 (GRCm38)	makesense	probably null
R4928:Slc9c1	UTSW	16	45,575,409 (GRCm38)	missense	probably benign	0.42
R4957:Slc9c1	UTSW	16	45,544,831 (GRCm38)	missense	probably benign	0.45
R4989:Slc9c1	UTSW	16	45,593,437 (GRCm38)	missense	probably benign	0.03
R5478:Slc9c1	UTSW	16	45,554,246 (GRCm38)	missense	probably damaging	1.00
R5534:Slc9c1	UTSW	16	45,556,614 (GRCm38)	missense	probably benign	0.00
R5898:Slc9c1	UTSW	16	45,544,760 (GRCm38)	missense	probably damaging	1.00
R5939:Slc9c1	UTSW	16	45,547,668 (GRCm38)	missense	probably benign	0.00
R6110:Slc9c1	UTSW	16	45,575,368 (GRCm38)	missense	probably damaging	1.00
R6115:Slc9c1	UTSW	16	45,555,769 (GRCm38)	missense	probably damaging	1.00
R6277:Slc9c1	UTSW	16	45,606,841 (GRCm38)	utr 3 prime	probably benign
R6286:Slc9c1	UTSW	16	45,577,831 (GRCm38)	missense	probably benign	0.14
R7268:Slc9c1	UTSW	16	45,550,116 (GRCm38)	missense	probably damaging	1.00
R7272:Slc9c1	UTSW	16	45,581,515 (GRCm38)	missense	possibly damaging	0.89
R7431:Slc9c1	UTSW	16	45,593,484 (GRCm38)	missense	probably damaging	1.00
R7573:Slc9c1	UTSW	16	45,577,893 (GRCm38)	missense	probably benign	0.00
R7881:Slc9c1	UTSW	16	45,582,969 (GRCm38)	missense	probably benign	0.00
R8207:Slc9c1	UTSW	16	45,539,713 (GRCm38)	missense	possibly damaging	0.65
R8289:Slc9c1	UTSW	16	45,582,981 (GRCm38)	missense	probably benign	0.09
R8302:Slc9c1	UTSW	16	45,547,695 (GRCm38)	missense	probably benign
R8328:Slc9c1	UTSW	16	45,577,864 (GRCm38)	missense	probably damaging	0.97
R8421:Slc9c1	UTSW	16	45,593,371 (GRCm38)	missense	probably damaging	0.97
R8691:Slc9c1	UTSW	16	45,606,819 (GRCm38)	missense	probably benign	0.00
R8712:Slc9c1	UTSW	16	45,560,283 (GRCm38)	missense	probably benign	0.00
R9128:Slc9c1	UTSW	16	45,580,127 (GRCm38)	missense	probably benign	0.25
R9191:Slc9c1	UTSW	16	45,599,781 (GRCm38)	missense	possibly damaging	0.57
R9230:Slc9c1	UTSW	16	45,577,912 (GRCm38)	missense	possibly damaging	0.93
R9248:Slc9c1	UTSW	16	45,550,188 (GRCm38)	missense	probably benign	0.01
R9417:Slc9c1	UTSW	16	45,593,485 (GRCm38)	missense	probably benign	0.45
R9519:Slc9c1	UTSW	16	45,575,407 (GRCm38)	missense	probably damaging	1.00
R9570:Slc9c1	UTSW	16	45,560,342 (GRCm38)	missense	probably benign	0.13
R9686:Slc9c1	UTSW	16	45,580,214 (GRCm38)	missense	possibly damaging	0.72
R9695:Slc9c1	UTSW	16	45,547,663 (GRCm38)	missense	probably benign	0.00
R9742:Slc9c1	UTSW	16	45,580,253 (GRCm38)	missense	probably damaging	1.00
V8831:Slc9c1	UTSW	16	45,577,899 (GRCm38)	missense	possibly damaging	0.89
Z1176:Slc9c1	UTSW	16	45,558,238 (GRCm38)	missense	possibly damaging	0.48
Z1177:Slc9c1	UTSW	16	45,573,419 (GRCm38)	frame shift	probably null

Posted On

2015-04-16