Mutagenetix > Incidental Mutation

Incidental Mutation 'R0316:Slc9c1'

34226

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

MMRRC Submission

038526-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R0316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45580232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 735 (R735Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: R735Q

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: R735Q

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,025,369	F276I	probably damaging	Het
Ado	A	G	10: 67,548,718	L19P	possibly damaging	Het
Ago2	T	C	15: 73,130,876	H169R	probably damaging	Het
Asic1	G	A	15: 99,671,938	A47T	probably benign	Het
Atg16l2	A	T	7: 101,293,396	I364N	probably damaging	Het
C130050O18Rik	G	A	5: 139,414,558	R122Q	probably damaging	Het
Capn7	T	A	14: 31,347,809	C197S	probably benign	Het
Casp16-ps	T	C	17: 23,552,092	D113G	probably damaging	Het
Cdh18	T	A	15: 23,366,913	V235D	probably damaging	Het
Clca4a	G	T	3: 144,953,764	T777K	probably damaging	Het
Col17a1	A	G	19: 47,685,533		probably null	Het
Col5a3	C	A	9: 20,775,325	D1335Y	unknown	Het
Cpxm1	T	C	2: 130,393,171	E576G	probably damaging	Het
Dcbld2	T	C	16: 58,433,445	S182P	probably damaging	Het
Dclk1	C	T	3: 55,502,892	S616L	probably damaging	Het
Dgcr14	G	A	16: 17,910,094	P103S	probably benign	Het
Dll4	C	A	2: 119,331,153	D405E	probably damaging	Het
Dnah1	G	A	14: 31,278,151	R2462C	probably benign	Het
Dnah3	A	T	7: 119,965,659	Y2594N	possibly damaging	Het
Fam110a	C	A	2: 151,970,086	A255S	probably benign	Het
Fbn2	G	A	18: 58,113,325	R502W	probably damaging	Het
Fgl2	A	G	5: 21,375,523	S288G	possibly damaging	Het
Gm1527	T	C	3: 28,915,774	S342P	probably damaging	Het
Gm19668	A	T	10: 77,798,730		probably benign	Het
Gm5901	A	T	7: 105,377,315	T97S	probably damaging	Het
Greb1l	A	G	18: 10,547,420	Y1546C	probably damaging	Het
Impg1	A	T	9: 80,342,065	S619T	probably damaging	Het
Itih2	C	A	2: 10,105,246	Q565H	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,024	N386K	probably benign	Het
Lama3	T	C	18: 12,519,877	M218T	probably benign	Het
Lipg	T	C	18: 74,960,941	S12G	probably benign	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mex3d	G	T	10: 80,381,671	P571T	probably damaging	Het
Neb	A	C	2: 52,195,470	Y1538D	possibly damaging	Het
Nsd1	T	C	13: 55,213,771	I184T	probably damaging	Het
Olfr1143	T	C	2: 87,803,181	F264S	probably damaging	Het
Olfr1451	T	A	19: 12,999,402	C139S	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pacs1	T	C	19: 5,135,121		silent	Het
Pdcd11	T	C	19: 47,113,172	V932A	probably damaging	Het
Pkd2	A	G	5: 104,477,166	D276G	probably damaging	Het
Pkia	T	A	3: 7,437,439	D25E	probably damaging	Het
Plxna2	A	C	1: 194,644,150	S131R	probably damaging	Het
Prelid1	T	C	13: 55,324,407	V132A	possibly damaging	Het
Psma3	T	C	12: 70,983,389	Y59H	probably benign	Het
Ptchd3	A	C	11: 121,842,090	E602A	possibly damaging	Het
Ptpro	T	C	6: 137,376,989	V121A	possibly damaging	Het
Ptprt	A	G	2: 161,607,319	L878P	probably damaging	Het
Pxn	G	A	5: 115,553,968	G370S	probably damaging	Het
Rcn2	G	T	9: 56,042,169	A40S	probably benign	Het
Rnf215	A	G	11: 4,139,760	N258D	probably damaging	Het
Rnpc3	T	C	3: 113,629,973	T28A	probably damaging	Het
Rtel1	T	A	2: 181,356,002	V1100E	possibly damaging	Het
Scn3a	T	A	2: 65,460,829	I1858F	probably damaging	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Spata13	A	G	14: 60,692,339	T449A	probably benign	Het
Svep1	A	G	4: 58,072,737	W2191R	probably damaging	Het
Thbs1	G	A	2: 118,117,574	R405H	probably damaging	Het
Tnn	A	G	1: 160,120,567	Y859H	possibly damaging	Het
Tonsl	A	G	15: 76,629,300	S1245P	possibly damaging	Het
Tpcn1	G	A	5: 120,539,259	T661M	probably damaging	Het
Trap1	A	G	16: 4,045,560	F533L	probably benign	Het
Ttc23	T	C	7: 67,679,073		probably null	Het
Vax2	T	C	6: 83,711,444	S50P	possibly damaging	Het
Vmn1r5	A	C	6: 56,985,799	E153A	probably benign	Het
Vmn2r14	G	T	5: 109,218,896	P486Q	probably benign	Het
Vmn2r96	T	A	17: 18,582,565	F246I	probably damaging	Het
Zc3h10	C	A	10: 128,544,755	E244D	probably damaging	Het
Zdhhc18	T	A	4: 133,613,655	K265*	probably null	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
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
R8302:Slc9c1	UTSW	16	45547695	missense	probably benign
R8328:Slc9c1	UTSW	16	45577864	missense	probably damaging	0.97
R8421:Slc9c1	UTSW	16	45593371	missense	probably damaging	0.97
R8691:Slc9c1	UTSW	16	45606819	missense	probably benign	0.00
R8712:Slc9c1	UTSW	16	45560283	missense	probably benign	0.00
R9128:Slc9c1	UTSW	16	45580127	missense	probably benign	0.25
R9191:Slc9c1	UTSW	16	45599781	missense	possibly damaging	0.57
R9230:Slc9c1	UTSW	16	45577912	missense	possibly damaging	0.93
R9248:Slc9c1	UTSW	16	45550188	missense	probably benign	0.01
R9417:Slc9c1	UTSW	16	45593485	missense	probably benign	0.45
R9519:Slc9c1	UTSW	16	45575407	missense	probably damaging	1.00
R9570:Slc9c1	UTSW	16	45560342	missense	probably benign	0.13
R9686:Slc9c1	UTSW	16	45580214	missense	possibly damaging	0.72
R9695:Slc9c1	UTSW	16	45547663	missense	probably benign	0.00
R9742:Slc9c1	UTSW	16	45580253	missense	probably damaging	1.00
V8831:Slc9c1	UTSW	16	45577899	missense	possibly damaging	0.89
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'- TGTATCAACAGGTGGCAGCAATGAG -3'
(R):5'- GCATTCTGCACCAAAAGGGAAAGC -3'

Sequencing Primer
(F):5'- TGGCAGCAATGAGGAAGG -3'
(R):5'- CCGTGATGAGTGCCTATAGC -3'

Posted On

2013-05-09