Mutagenetix > Incidental Mutations

Incidental Mutation 'V8831:Slc9c1'

44637

Institutional Source

Beutler Lab

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

Is this an essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

V8831 () of strain 710

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45577899 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 676 (I676F)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: I676F

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I676F

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

probably benign
Transcript: ENSMUST00000162151

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa1	A	G	12: 87,269,923	N107S	probably damaging	Het
Arhgap23	A	G	11: 97,456,545	I690V	probably benign	Het
Bard1	G	A	1: 71,088,217	P78S	probably damaging	Het
Ccar1	G	A	10: 62,747,406	T976I	unknown	Het
Cdc7	T	A	5: 106,968,910	N50K	probably benign	Het
Cep85	C	T	4: 134,156,069	E170K	possibly damaging	Het
Cpsf2	C	T	12: 102,003,141	R757C	probably damaging	Het
Csmd3	A	T	15: 48,457,696	D239E	probably damaging	Het
Dnah7b	T	G	1: 46,373,298	Y4022*	probably null	Het
Elmo3	A	G	8: 105,307,061	N179S	probably benign	Het
H2-T24	T	A	17: 36,017,324	Q89L	probably damaging	Het
Hist1h2bj	G	C	13: 22,043,281		probably benign	Het
Irak4	T	C	15: 94,561,484	I327T	probably damaging	Het
Itpr2	A	T	6: 146,385,882	L157Q	probably damaging	Het
Lama1	G	A	17: 67,752,883	D656N	probably benign	Het
Lrrc72	G	T	12: 36,208,657	T67K	possibly damaging	Het
Map2	T	G	1: 66,415,845	I1298S	probably damaging	Het
Mroh2a	T	TN	1: 88,256,167		probably null	Het
Ndst1	G	A	18: 60,702,927	A428V	probably damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,003	Y104H	possibly damaging	Het
Olfr177	G	T	16: 58,873,075	T25K	probably benign	Het
Olfr481	C	T	7: 108,081,535	A247V	probably benign	Het
Plxna1	A	G	6: 89,357,137	V170A	probably damaging	Het
Rfx6	G	A	10: 51,718,208		probably null	Het
Shprh	G	A	10: 11,186,862	D1238N	probably damaging	Het
Slc15a2	A	G	16: 36,772,445	M179T	probably benign	Het
Smoc1	A	G	12: 81,168,255	D305G	probably damaging	Het
Spdef	C	T	17: 27,718,077	R184H	probably damaging	Het
Stxbp4	C	T	11: 90,480,671	A535T	probably benign	Het
Tcp11l1	C	G	2: 104,685,484	V345L	probably benign	Het
Ticam1	TC	T	17: 56,269,969		probably null	Het
Ttc28	A	T	5: 111,100,712	Y177F	probably benign	Het
Ugt2b34	A	T	5: 86,906,674	Y83N	probably benign	Het
Vmn2r30	G	A	7: 7,334,149	R163C	probably benign	Het
Xirp1	T	G	9: 120,016,907	Q970P	probably benign	Het

Other mutations in Slc9c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc9c1	APN	16	45573389	missense	possibly damaging	0.93
IGL00510:Slc9c1	APN	16	45539639	missense	probably benign	0.00
IGL00949:Slc9c1	APN	16	45593358	missense	probably benign
IGL01287:Slc9c1	APN	16	45584448	nonsense	probably null
IGL01536:Slc9c1	APN	16	45589629	critical splice donor site	probably null
IGL01655:Slc9c1	APN	16	45582972	missense	probably benign
IGL01671:Slc9c1	APN	16	45560315	missense	probably benign
IGL01720:Slc9c1	APN	16	45555769	missense	probably damaging	1.00
IGL01758:Slc9c1	APN	16	45541461	missense	probably damaging	1.00
IGL02031:Slc9c1	APN	16	45599470	missense	probably benign	0.00
IGL02321:Slc9c1	APN	16	45556614	missense	probably benign	0.02
IGL02472:Slc9c1	APN	16	45580142	missense	probably benign	0.10
IGL02516:Slc9c1	APN	16	45577875	missense	probably damaging	0.96
IGL02732:Slc9c1	APN	16	45550185	missense	possibly damaging	0.78
IGL02741:Slc9c1	APN	16	45581598	missense	possibly damaging	0.48
IGL02795:Slc9c1	APN	16	45575419	missense	probably benign	0.06
IGL03032:Slc9c1	APN	16	45543261	splice site	probably benign
IGL03062:Slc9c1	APN	16	45599758	missense	probably benign	0.20
IGL03184:Slc9c1	APN	16	45547640	missense	probably damaging	1.00
IGL03351:Slc9c1	APN	16	45543168	missense	probably benign	0.01
P0041:Slc9c1	UTSW	16	45550161	missense	possibly damaging	0.65
R0052:Slc9c1	UTSW	16	45606856	utr 3 prime	probably benign
R0107:Slc9c1	UTSW	16	45575420	missense	probably benign	0.00
R0255:Slc9c1	UTSW	16	45554300	missense	probably benign	0.25
R0316:Slc9c1	UTSW	16	45580232	missense	possibly damaging	0.72
R0437:Slc9c1	UTSW	16	45599887	splice site	probably benign
R0611:Slc9c1	UTSW	16	45581602	missense	possibly damaging	0.83
R0624:Slc9c1	UTSW	16	45573356	missense	probably benign	0.00
R0630:Slc9c1	UTSW	16	45543120	splice site	probably benign
R1106:Slc9c1	UTSW	16	45555807	missense	possibly damaging	0.66
R1396:Slc9c1	UTSW	16	45573347	missense	probably benign	0.43
R1727:Slc9c1	UTSW	16	45601961	missense	probably benign	0.27
R1732:Slc9c1	UTSW	16	45552928	missense	probably benign	0.21
R1754:Slc9c1	UTSW	16	45589509	missense	probably benign	0.11
R1799:Slc9c1	UTSW	16	45554289	missense	probably damaging	1.00
R1802:Slc9c1	UTSW	16	45558281	missense	probably benign
R1813:Slc9c1	UTSW	16	45573347	missense	probably benign	0.43
R1972:Slc9c1	UTSW	16	45593472	missense	possibly damaging	0.89
R1985:Slc9c1	UTSW	16	45550106	missense	probably benign	0.01
R1995:Slc9c1	UTSW	16	45554255	missense	probably damaging	0.99
R2045:Slc9c1	UTSW	16	45580250	missense	probably damaging	1.00
R2146:Slc9c1	UTSW	16	45593464	missense	probably benign	0.19
R2511:Slc9c1	UTSW	16	45544736	missense	possibly damaging	0.79
R3716:Slc9c1	UTSW	16	45580219	missense	probably benign
R3765:Slc9c1	UTSW	16	45590881	missense	possibly damaging	0.89
R3936:Slc9c1	UTSW	16	45606830	utr 3 prime	probably benign
R4051:Slc9c1	UTSW	16	45543230	missense	probably damaging	1.00
R4302:Slc9c1	UTSW	16	45544791	missense	probably benign	0.35
R4433:Slc9c1	UTSW	16	45599466	missense	possibly damaging	0.93
R4651:Slc9c1	UTSW	16	45547393	makesense	probably null
R4928:Slc9c1	UTSW	16	45575409	missense	probably benign	0.42
R4957:Slc9c1	UTSW	16	45544831	missense	probably benign	0.45
R4989:Slc9c1	UTSW	16	45593437	missense	probably benign	0.03
R5478:Slc9c1	UTSW	16	45554246	missense	probably damaging	1.00
R5534:Slc9c1	UTSW	16	45556614	missense	probably benign	0.00
R5898:Slc9c1	UTSW	16	45544760	missense	probably damaging	1.00
R5939:Slc9c1	UTSW	16	45547668	missense	probably benign	0.00
R6110:Slc9c1	UTSW	16	45575368	missense	probably damaging	1.00
R6115:Slc9c1	UTSW	16	45555769	missense	probably damaging	1.00
R6277:Slc9c1	UTSW	16	45606841	utr 3 prime	probably benign
R6286:Slc9c1	UTSW	16	45577831	missense	probably benign	0.14
R7268:Slc9c1	UTSW	16	45550116	missense	probably damaging	1.00
R7272:Slc9c1	UTSW	16	45581515	missense	possibly damaging	0.89
R7431:Slc9c1	UTSW	16	45593484	missense	probably damaging	1.00
R7573:Slc9c1	UTSW	16	45577893	missense	probably benign	0.00
R7881:Slc9c1	UTSW	16	45582969	missense	probably benign	0.00
R8207:Slc9c1	UTSW	16	45539713	missense	possibly damaging	0.65
R8289:Slc9c1	UTSW	16	45582981	missense	probably benign	0.09
Z1176:Slc9c1	UTSW	16	45558238	missense	possibly damaging	0.48
Z1177:Slc9c1	UTSW	16	45573419	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCCTGGCTCCAGTTAAGTAGGAATAGAA -3'
(R):5'- agcatccacttgtCTCAATATCGCTTT -3'

Sequencing Primer
(F):5'- CCAGTTAAGTAGGAATAGAATTGACC -3'
(R):5'- ttcccagcaaccacacag -3'

Posted On

2013-06-11