Mutagenetix > Incidental Mutation

Incidental Mutation 'R2511:Slc9c1'

253034

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, spermNHE, Slc9a10

MMRRC Submission

040417-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R2511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45355672-45427364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45365099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 144 (I144T)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: I144T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I144T

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: I115T

Predicted Effect

unknown
Transcript: ENSMUST00000162774
AA Change: I115T

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,097,902 (GRCm39)	C100S	probably damaging	Het
Abcc8	C	T	7: 45,800,204 (GRCm39)	R526H	probably damaging	Het
Acad10	G	A	5: 121,769,630 (GRCm39)	P609S	probably benign	Het
Acod1	A	T	14: 103,288,775 (GRCm39)	D95V	probably damaging	Het
Acsm5	A	T	7: 119,129,677 (GRCm39)	I130F	possibly damaging	Het
Ago4	A	T	4: 126,410,864 (GRCm39)	D208E	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,697,853 (GRCm39)	I791K	probably damaging	Het
Ano10	A	G	9: 122,088,011 (GRCm39)	V364A	probably damaging	Het
Arhgap9	T	C	10: 127,164,854 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,666 (GRCm39)	C183Y	probably damaging	Het
Ascl2	T	G	7: 142,521,953 (GRCm39)	E97A	probably damaging	Het
Bcl2a1a	C	T	9: 88,839,506 (GRCm39)	R135W	probably damaging	Het
Bms1	C	T	6: 118,368,114 (GRCm39)		probably null	Het
Bysl	T	A	17: 47,915,260 (GRCm39)	T163S	probably benign	Het
Card10	A	G	15: 78,664,473 (GRCm39)	I821T	probably benign	Het
Cc2d2a	A	T	5: 43,892,737 (GRCm39)	Q1433L	probably damaging	Het
Cchcr1	T	C	17: 35,841,410 (GRCm39)	S809P	probably benign	Het
Ccz1	G	T	5: 143,949,815 (GRCm39)	T70K	probably damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cep164	A	T	9: 45,686,547 (GRCm39)	L729Q	probably damaging	Het
Clcn6	A	G	4: 148,101,951 (GRCm39)		probably null	Het
Clcn7	T	A	17: 25,374,420 (GRCm39)	V507E	probably damaging	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Ctso	A	C	3: 81,840,041 (GRCm39)	T24P	probably damaging	Het
Dis3l2	A	T	1: 86,917,980 (GRCm39)	N543I	probably benign	Het
Dnah12	A	T	14: 26,491,907 (GRCm39)	Y1114F	possibly damaging	Het
Emx1	A	G	6: 85,181,033 (GRCm39)	D250G	probably benign	Het
Epha4	G	A	1: 77,488,339 (GRCm39)	A47V	possibly damaging	Het
Fam149b	A	C	14: 20,428,524 (GRCm39)	N341T	probably damaging	Het
Fsip2	A	G	2: 82,782,001 (GRCm39)	K62R	probably damaging	Het
Fsip2	T	C	2: 82,816,782 (GRCm39)	S4172P	probably benign	Het
Gbp3	A	G	3: 142,276,343 (GRCm39)	R480G	probably benign	Het
Get3	A	G	8: 85,746,395 (GRCm39)	V151A	possibly damaging	Het
Gja8	T	G	3: 96,827,033 (GRCm39)	T210P	probably damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Gm9930	T	C	10: 9,410,446 (GRCm39)		noncoding transcript	Het
Gstt4	C	T	10: 75,650,959 (GRCm39)	C221Y	probably benign	Het
Gzmg	A	T	14: 56,395,832 (GRCm39)	D42E	probably benign	Het
Hoxd12	G	A	2: 74,505,815 (GRCm39)	A129T	possibly damaging	Het
Hs2st1	G	A	3: 144,275,691 (GRCm39)		probably benign	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Igsf10	T	C	3: 59,239,287 (GRCm39)	D298G	probably damaging	Het
Irf1	T	C	11: 53,664,617 (GRCm39)	V108A	probably damaging	Het
Jsrp1	C	G	10: 80,648,140 (GRCm39)	S36T	probably benign	Het
Kcnq5	T	A	1: 21,576,006 (GRCm39)	R233*	probably null	Het
Kif7	T	C	7: 79,352,012 (GRCm39)	K917E	probably damaging	Het
Krt7	A	C	15: 101,310,538 (GRCm39)	I62L	probably benign	Het
Lifr	A	G	15: 7,196,397 (GRCm39)	T194A	probably benign	Het
Ltbp2	T	C	12: 84,851,183 (GRCm39)		probably null	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Man2c1	A	G	9: 57,048,672 (GRCm39)		probably null	Het
Met	T	C	6: 17,491,966 (GRCm39)	S243P	probably damaging	Het
Mllt10	C	A	2: 18,069,935 (GRCm39)	D30E	possibly damaging	Het
Mre11a	A	C	9: 14,707,065 (GRCm39)		probably null	Het
Mroh9	A	G	1: 162,866,514 (GRCm39)	S710P	probably benign	Het
Mvk	C	A	5: 114,588,459 (GRCm39)	Y116*	probably null	Het
Myh1	A	G	11: 67,096,423 (GRCm39)	I301V	probably benign	Het
Ncf1	T	C	5: 134,254,552 (GRCm39)	D184G	probably damaging	Het
Nxpe4	T	C	9: 48,304,533 (GRCm39)	F207L	probably damaging	Het
Or2ag18	G	T	7: 106,405,168 (GRCm39)	P167H	probably damaging	Het
Or2y1b	T	G	11: 49,209,048 (GRCm39)	L225R	probably damaging	Het
Or4k51	T	A	2: 111,584,661 (GRCm39)	N22K	probably benign	Het
Or52b1	A	T	7: 104,978,817 (GRCm39)	I194N	probably damaging	Het
Or5b24	T	A	19: 12,912,537 (GRCm39)	M145K	possibly damaging	Het
Or5w14	T	C	2: 87,541,392 (GRCm39)	N286S	probably damaging	Het
Pcdh1	G	A	18: 38,332,532 (GRCm39)	T296M	possibly damaging	Het
Pcdh15	A	G	10: 74,481,828 (GRCm39)	D391G	possibly damaging	Het
Pcdha7	C	A	18: 37,107,786 (GRCm39)	D270E	probably damaging	Het
Pgam1	C	A	19: 41,904,315 (GRCm39)	S137R	probably damaging	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Plce1	T	G	19: 38,748,498 (GRCm39)	I1729S	probably damaging	Het
Plppr4	G	T	3: 117,125,355 (GRCm39)	N161K	probably damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Prkce	T	A	17: 86,932,754 (GRCm39)	I578N	probably damaging	Het
Prss58	A	C	6: 40,874,734 (GRCm39)	S36A	probably damaging	Het
Ptprm	T	C	17: 67,000,773 (GRCm39)	H1128R	probably damaging	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rubcn	T	C	16: 32,667,624 (GRCm39)	N179S	probably damaging	Het
Sh3bp1	C	T	15: 78,795,706 (GRCm39)	P612S	probably damaging	Het
Sh3bp5	G	A	14: 31,133,586 (GRCm39)	T82M	probably damaging	Het
Shank2	A	G	7: 143,965,314 (GRCm39)	Y974C	probably damaging	Het
Slf2	T	C	19: 44,930,045 (GRCm39)	I374T	possibly damaging	Het
Snx13	A	G	12: 35,188,080 (GRCm39)	D786G	probably benign	Het
Spcs3	A	G	8: 54,976,389 (GRCm39)	V151A	possibly damaging	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Stac3	T	C	10: 127,339,787 (GRCm39)		probably null	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgm5	T	C	2: 120,907,429 (GRCm39)	E98G	possibly damaging	Het
Tktl2	A	G	8: 66,965,504 (GRCm39)	E354G	probably benign	Het
Tmem94	G	A	11: 115,682,787 (GRCm39)	R608H	probably damaging	Het
Tnrc6a	G	A	7: 122,770,315 (GRCm39)	V702I	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Trim24	G	A	6: 37,880,587 (GRCm39)		probably null	Het
Ugt1a2	A	G	1: 88,128,846 (GRCm39)	Y163C	probably damaging	Het
Vmn1r215	A	G	13: 23,260,343 (GRCm39)	I128V	probably benign	Het
Vmn2r50	T	A	7: 9,781,640 (GRCm39)	E368D	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,190 (GRCm39)	N470S	probably damaging	Het
Vps45	T	C	3: 95,948,757 (GRCm39)	T333A	probably benign	Het
Zbtb44	T	A	9: 30,965,539 (GRCm39)	D316E	probably damaging	Het
Zdhhc1	C	T	8: 106,210,190 (GRCm39)	V76M	probably benign	Het
Zfp235	T	C	7: 23,841,549 (GRCm39)	F656S	probably damaging	Het

Other mutations in Slc9c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc9c1	APN	16	45,393,752 (GRCm39)	missense	possibly damaging	0.93
IGL00510:Slc9c1	APN	16	45,360,002 (GRCm39)	missense	probably benign	0.00
IGL00949:Slc9c1	APN	16	45,413,721 (GRCm39)	missense	probably benign
IGL01287:Slc9c1	APN	16	45,404,811 (GRCm39)	nonsense	probably null
IGL01536:Slc9c1	APN	16	45,409,992 (GRCm39)	critical splice donor site	probably null
IGL01655:Slc9c1	APN	16	45,403,335 (GRCm39)	missense	probably benign
IGL01671:Slc9c1	APN	16	45,380,678 (GRCm39)	missense	probably benign
IGL01720:Slc9c1	APN	16	45,376,132 (GRCm39)	missense	probably damaging	1.00
IGL01758:Slc9c1	APN	16	45,361,824 (GRCm39)	missense	probably damaging	1.00
IGL02031:Slc9c1	APN	16	45,419,833 (GRCm39)	missense	probably benign	0.00
IGL02321:Slc9c1	APN	16	45,376,977 (GRCm39)	missense	probably benign	0.02
IGL02472:Slc9c1	APN	16	45,400,505 (GRCm39)	missense	probably benign	0.10
IGL02516:Slc9c1	APN	16	45,398,238 (GRCm39)	missense	probably damaging	0.96
IGL02732:Slc9c1	APN	16	45,370,548 (GRCm39)	missense	possibly damaging	0.78
IGL02741:Slc9c1	APN	16	45,401,961 (GRCm39)	missense	possibly damaging	0.48
IGL02795:Slc9c1	APN	16	45,395,782 (GRCm39)	missense	probably benign	0.06
IGL03032:Slc9c1	APN	16	45,363,624 (GRCm39)	splice site	probably benign
IGL03062:Slc9c1	APN	16	45,420,121 (GRCm39)	missense	probably benign	0.20
IGL03184:Slc9c1	APN	16	45,368,003 (GRCm39)	missense	probably damaging	1.00
IGL03351:Slc9c1	APN	16	45,363,531 (GRCm39)	missense	probably benign	0.01
P0041:Slc9c1	UTSW	16	45,370,524 (GRCm39)	missense	possibly damaging	0.65
R0052:Slc9c1	UTSW	16	45,427,219 (GRCm39)	utr 3 prime	probably benign
R0107:Slc9c1	UTSW	16	45,395,783 (GRCm39)	missense	probably benign	0.00
R0255:Slc9c1	UTSW	16	45,374,663 (GRCm39)	missense	probably benign	0.25
R0316:Slc9c1	UTSW	16	45,400,595 (GRCm39)	missense	possibly damaging	0.72
R0437:Slc9c1	UTSW	16	45,420,250 (GRCm39)	splice site	probably benign
R0611:Slc9c1	UTSW	16	45,401,965 (GRCm39)	missense	possibly damaging	0.83
R0624:Slc9c1	UTSW	16	45,393,719 (GRCm39)	missense	probably benign	0.00
R0630:Slc9c1	UTSW	16	45,363,483 (GRCm39)	splice site	probably benign
R1106:Slc9c1	UTSW	16	45,376,170 (GRCm39)	missense	possibly damaging	0.66
R1396:Slc9c1	UTSW	16	45,393,710 (GRCm39)	missense	probably benign	0.43
R1727:Slc9c1	UTSW	16	45,422,324 (GRCm39)	missense	probably benign	0.27
R1732:Slc9c1	UTSW	16	45,373,291 (GRCm39)	missense	probably benign	0.21
R1754:Slc9c1	UTSW	16	45,409,872 (GRCm39)	missense	probably benign	0.11
R1799:Slc9c1	UTSW	16	45,374,652 (GRCm39)	missense	probably damaging	1.00
R1802:Slc9c1	UTSW	16	45,378,644 (GRCm39)	missense	probably benign
R1813:Slc9c1	UTSW	16	45,393,710 (GRCm39)	missense	probably benign	0.43
R1972:Slc9c1	UTSW	16	45,413,835 (GRCm39)	missense	possibly damaging	0.89
R1985:Slc9c1	UTSW	16	45,370,469 (GRCm39)	missense	probably benign	0.01
R1995:Slc9c1	UTSW	16	45,374,618 (GRCm39)	missense	probably damaging	0.99
R2045:Slc9c1	UTSW	16	45,400,613 (GRCm39)	missense	probably damaging	1.00
R2146:Slc9c1	UTSW	16	45,413,827 (GRCm39)	missense	probably benign	0.19
R3716:Slc9c1	UTSW	16	45,400,582 (GRCm39)	missense	probably benign
R3765:Slc9c1	UTSW	16	45,411,244 (GRCm39)	missense	possibly damaging	0.89
R3936:Slc9c1	UTSW	16	45,427,193 (GRCm39)	utr 3 prime	probably benign
R4051:Slc9c1	UTSW	16	45,363,593 (GRCm39)	missense	probably damaging	1.00
R4302:Slc9c1	UTSW	16	45,365,154 (GRCm39)	missense	probably benign	0.35
R4433:Slc9c1	UTSW	16	45,419,829 (GRCm39)	missense	possibly damaging	0.93
R4651:Slc9c1	UTSW	16	45,367,756 (GRCm39)	makesense	probably null
R4928:Slc9c1	UTSW	16	45,395,772 (GRCm39)	missense	probably benign	0.42
R4957:Slc9c1	UTSW	16	45,365,194 (GRCm39)	missense	probably benign	0.45
R4989:Slc9c1	UTSW	16	45,413,800 (GRCm39)	missense	probably benign	0.03
R5478:Slc9c1	UTSW	16	45,374,609 (GRCm39)	missense	probably damaging	1.00
R5534:Slc9c1	UTSW	16	45,376,977 (GRCm39)	missense	probably benign	0.00
R5898:Slc9c1	UTSW	16	45,365,123 (GRCm39)	missense	probably damaging	1.00
R5939:Slc9c1	UTSW	16	45,368,031 (GRCm39)	missense	probably benign	0.00
R6110:Slc9c1	UTSW	16	45,395,731 (GRCm39)	missense	probably damaging	1.00
R6115:Slc9c1	UTSW	16	45,376,132 (GRCm39)	missense	probably damaging	1.00
R6277:Slc9c1	UTSW	16	45,427,204 (GRCm39)	utr 3 prime	probably benign
R6286:Slc9c1	UTSW	16	45,398,194 (GRCm39)	missense	probably benign	0.14
R7268:Slc9c1	UTSW	16	45,370,479 (GRCm39)	missense	probably damaging	1.00
R7272:Slc9c1	UTSW	16	45,401,878 (GRCm39)	missense	possibly damaging	0.89
R7431:Slc9c1	UTSW	16	45,413,847 (GRCm39)	missense	probably damaging	1.00
R7573:Slc9c1	UTSW	16	45,398,256 (GRCm39)	missense	probably benign	0.00
R7881:Slc9c1	UTSW	16	45,403,332 (GRCm39)	missense	probably benign	0.00
R8207:Slc9c1	UTSW	16	45,360,076 (GRCm39)	missense	possibly damaging	0.65
R8289:Slc9c1	UTSW	16	45,403,344 (GRCm39)	missense	probably benign	0.09
R8302:Slc9c1	UTSW	16	45,368,058 (GRCm39)	missense	probably benign
R8328:Slc9c1	UTSW	16	45,398,227 (GRCm39)	missense	probably damaging	0.97
R8421:Slc9c1	UTSW	16	45,413,734 (GRCm39)	missense	probably damaging	0.97
R8691:Slc9c1	UTSW	16	45,427,182 (GRCm39)	missense	probably benign	0.00
R8712:Slc9c1	UTSW	16	45,380,646 (GRCm39)	missense	probably benign	0.00
R9128:Slc9c1	UTSW	16	45,400,490 (GRCm39)	missense	probably benign	0.25
R9191:Slc9c1	UTSW	16	45,420,144 (GRCm39)	missense	possibly damaging	0.57
R9230:Slc9c1	UTSW	16	45,398,275 (GRCm39)	missense	possibly damaging	0.93
R9248:Slc9c1	UTSW	16	45,370,551 (GRCm39)	missense	probably benign	0.01
R9417:Slc9c1	UTSW	16	45,413,848 (GRCm39)	missense	probably benign	0.45
R9519:Slc9c1	UTSW	16	45,395,770 (GRCm39)	missense	probably damaging	1.00
R9570:Slc9c1	UTSW	16	45,380,705 (GRCm39)	missense	probably benign	0.13
R9686:Slc9c1	UTSW	16	45,400,577 (GRCm39)	missense	possibly damaging	0.72
R9695:Slc9c1	UTSW	16	45,368,026 (GRCm39)	missense	probably benign	0.00
R9742:Slc9c1	UTSW	16	45,400,616 (GRCm39)	missense	probably damaging	1.00
V8831:Slc9c1	UTSW	16	45,398,262 (GRCm39)	missense	possibly damaging	0.89
Z1176:Slc9c1	UTSW	16	45,378,601 (GRCm39)	missense	possibly damaging	0.48
Z1177:Slc9c1	UTSW	16	45,393,782 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGAAATGAGGAATGTTGCTCTAGC -3'
(R):5'- CCACACCAGTGCATGTGATC -3'

Sequencing Primer
(F):5'- CTCTAGCAAAGTGAGCTAACGAACTG -3'
(R):5'- CCAGTGCATGTGATCAAATCC -3'

Posted On

2014-12-04