Mutagenetix > Incidental Mutation

Incidental Mutation 'R9128:Slc9c1'

693432

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R9128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45580127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 700 (L700P)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: L700P

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: L700P

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,002,518	V542A	possibly damaging	Het
Abhd8	G	T	8: 71,461,745	R80S	probably benign	Het
Actc1	T	C	2: 114,050,465	Y93C	possibly damaging	Het
Actn4	G	T	7: 28,894,504	D859E	possibly damaging	Het
Adcy2	C	T	13: 68,625,808	G1039R	probably damaging	Het
Als2	A	G	1: 59,180,550	M1202T	probably benign	Het
Aste1	T	A	9: 105,396,709	Y49*	probably null	Het
Atp8b4	T	C	2: 126,392,830	D422G	probably benign	Het
Bag6	T	A	17: 35,144,712	S791T	probably damaging	Het
Bivm	T	A	1: 44,128,789	W222R	probably null	Het
Bod1l	A	C	5: 41,788,923	V3003G	probably benign	Het
Bsn	T	C	9: 108,116,150	D801G	probably benign	Het
Ccdc14	G	A	16: 34,706,789	D403N	probably damaging	Het
Cenpj	T	A	14: 56,542,862	E964V	probably damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Clca3a1	G	A	3: 144,758,034	R161W	probably damaging	Het
Dcxr	A	T	11: 120,726,546	V57E		Het
Dnah17	T	G	11: 118,046,178	N3400T	possibly damaging	Het
Dnaja3	C	T	16: 4,702,300	T444I	possibly damaging	Het
Dopey1	T	C	9: 86,513,155	S772P	probably benign	Het
Ednrb	T	C	14: 103,843,092	N129D	probably damaging	Het
Ep300	T	A	15: 81,649,745	M2001K	unknown	Het
Fam3b	A	G	16: 97,501,000	I8T	probably benign	Het
Fam98c	A	T	7: 29,154,690	S85T		Het
Fat1	G	A	8: 45,009,841	V1232I	probably benign	Het
Fzd3	T	A	14: 65,212,177	Y484F	probably damaging	Het
Gm13023	T	A	4: 143,793,608	S141T	probably benign	Het
H3f3a	T	C	1: 180,803,095	I131M	possibly damaging	Het
Ifi206	A	T	1: 173,471,456	D861E	unknown	Het
Ihh	T	C	1: 74,946,339	Y329C	probably damaging	Het
Jak2	A	G	19: 29,301,062	N909D	probably damaging	Het
Krtap12-1	C	A	10: 77,720,789	C55*	probably null	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mpp5	A	G	12: 78,797,058	E12G	probably benign	Het
Mreg	T	C	1: 72,192,057	T81A	probably benign	Het
Muc16	T	C	9: 18,647,582	T2472A	unknown	Het
Nanos3	A	T	8: 84,176,451	D27E	probably benign	Het
Nox3	T	G	17: 3,669,861	S350R	probably damaging	Het
Olfr1049	T	A	2: 86,255,678	N5I	probably damaging	Het
Olfr734	A	G	14: 50,320,757	V26A	probably benign	Het
Pafah2	C	T	4: 134,419,970	T310M	probably damaging	Het
Pianp	A	G	6: 125,000,695	I185V	probably benign	Het
Pja2	T	C	17: 64,309,475	T142A	probably benign	Het
Poln	G	A	5: 34,014,314	P747L	probably damaging	Het
Rdx	T	A	9: 52,064,879	L39*	probably null	Het
Rnf146	A	G	10: 29,347,543	W116R	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Het
Sec24d	A	G	3: 123,294,161	T224A	probably benign	Het
Serpinb9	T	A	13: 33,006,703	I54K	possibly damaging	Het
Slc25a13	A	T	6: 6,109,987	L324Q	probably null	Het
Snta1	T	C	2: 154,380,936	K289R	probably benign	Het
Sppl2a	A	G	2: 126,923,473	F243S	probably damaging	Het
Syne1	T	C	10: 5,108,556	E7319G	probably benign	Het
Taf5l	G	A	8: 124,003,275	P225L	probably benign	Het
Tet2	A	T	3: 133,469,613	N1324K	possibly damaging	Het
Usp5	A	T	6: 124,823,451		probably null	Het
Vmn2r124	G	T	17: 18,074,177	R842L	probably benign	Het
Vps16	A	G	2: 130,424,399	D2G	possibly damaging	Het
Vwf	T	C	6: 125,642,730	L1457P		Het
Xpo1	A	G	11: 23,285,058	T576A	probably damaging	Het
Zdhhc6	A	T	19: 55,313,248	Y100*	probably null	Het
Zfp534	T	A	4: 147,675,625	R196*	probably null	Het
Zfp710	C	T	7: 80,081,374	R100W	probably damaging	Het
Zfp750	T	C	11: 121,513,848	K67R	probably benign	Het
Zmynd10	T	C	9: 107,549,127	S158P		Het
Zmynd8	A	T	2: 165,858,138	M1K	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
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
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
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'- GATAACTGGTAATGTTTGCATTCCC -3'
(R):5'- AGCGGAAGTCATGTGTCCTG -3'

Sequencing Primer
(F):5'- GCCACTGAGAGTTTGAGTACACTTAG -3'
(R):5'- GAAGTCATGTGTCCTGCCCTTG -3'

Posted On

2022-01-20