Mutagenetix > Incidental Mutation

Incidental Mutation 'R3765:Slc9c1'

274679

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

040742-MU

Accession Numbers

Essential gene?

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

Stock #

R3765 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45355672-45427364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45411244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 934 (M934L)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: M934L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: M934L

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: 98.7%
10x: 97.5%
20x: 95.8%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,258,585 (GRCm39)	V403A	probably benign	Het
Arid2	T	C	15: 96,268,595 (GRCm39)	S903P	probably benign	Het
Arl6ip6	T	A	2: 53,082,243 (GRCm39)	W37R	probably damaging	Het
Bag3	C	T	7: 128,141,995 (GRCm39)	T162I	probably benign	Het
C4b	G	A	17: 34,948,814 (GRCm39)	P1545S	probably damaging	Het
Ccdc185	T	A	1: 182,575,117 (GRCm39)	H524L	possibly damaging	Het
Cfap43	T	C	19: 47,824,014 (GRCm39)	N119S	probably benign	Het
Churc1	C	A	12: 76,820,057 (GRCm39)	S22*	probably null	Het
Crbn	T	C	6: 106,771,987 (GRCm39)	K106E	possibly damaging	Het
Dag1	C	T	9: 108,085,398 (GRCm39)	G581E	probably damaging	Het
Dpp4	T	A	2: 62,216,780 (GRCm39)	T92S	probably benign	Het
Fam135a	T	C	1: 24,094,958 (GRCm39)	T137A	possibly damaging	Het
Fcsk	A	G	8: 111,613,736 (GRCm39)	I775T	probably benign	Het
Fermt1	T	C	2: 132,748,622 (GRCm39)	D667G	possibly damaging	Het
Foxl2	T	A	9: 98,838,039 (GRCm39)	I109N	probably damaging	Het
Frk	A	G	10: 34,360,001 (GRCm39)	M1V	probably null	Het
Gstm2	A	G	3: 107,891,346 (GRCm39)	F124S	probably damaging	Het
Hmcn1	T	C	1: 150,620,776 (GRCm39)	S1145G	possibly damaging	Het
Ints10	A	G	8: 69,277,771 (GRCm39)	T682A	possibly damaging	Het
Jmy	T	C	13: 93,601,219 (GRCm39)	M396V	possibly damaging	Het
Ldb3	A	T	14: 34,300,639 (GRCm39)		probably null	Het
Mre11a	A	G	9: 14,721,143 (GRCm39)	N354S	probably benign	Het
Nbea	A	G	3: 55,912,970 (GRCm39)	V939A	probably damaging	Het
Nphs1	T	C	7: 30,170,635 (GRCm39)	S928P	probably damaging	Het
Or5b109	G	A	19: 13,211,795 (GRCm39)	M60I	probably damaging	Het
Or7a40	A	G	16: 16,491,179 (GRCm39)	V222A	probably benign	Het
Or8g34	T	A	9: 39,372,920 (GRCm39)	Y61*	probably null	Het
Or9e1	T	C	11: 58,732,120 (GRCm39)	F60S	probably damaging	Het
Pla2g12b	G	A	10: 59,257,323 (GRCm39)	V169M	probably damaging	Het
Polr1c	C	T	17: 46,558,850 (GRCm39)	V14M	probably damaging	Het
Prg4	G	A	1: 150,327,122 (GRCm39)	S898L	probably damaging	Het
Prmt6	C	A	3: 110,157,510 (GRCm39)	E260*	probably null	Het
Ptx4	A	G	17: 25,341,842 (GRCm39)	T106A	probably benign	Het
Rab3il1	A	G	19: 10,005,673 (GRCm39)	T87A	probably damaging	Het
Sbf2	A	G	7: 109,974,788 (GRCm39)	V783A	probably damaging	Het
Scn2a	A	C	2: 65,513,054 (GRCm39)	D209A	possibly damaging	Het
Setd2	T	C	9: 110,423,314 (GRCm39)	L345P	probably damaging	Het
Slc18b1	A	G	10: 23,674,647 (GRCm39)	D34G	probably damaging	Het
Slx4	A	G	16: 3,798,850 (GRCm39)	V1357A	probably damaging	Het
Spidr	T	C	16: 15,786,504 (GRCm39)	E413G	probably benign	Het
Taar1	A	G	10: 23,797,205 (GRCm39)	Y301C	probably damaging	Het
Tada2b	A	T	5: 36,633,761 (GRCm39)	D197E	probably benign	Het
Taf1c	G	T	8: 120,327,224 (GRCm39)	Y418*	probably null	Het
Tanc2	A	G	11: 105,805,796 (GRCm39)	D394G	probably damaging	Het
Tnpo3	T	C	6: 29,579,688 (GRCm39)	D235G	probably benign	Het
Tns3	G	A	11: 8,401,133 (GRCm39)	A1055V	probably benign	Het
Wdfy3	A	G	5: 102,009,266 (GRCm39)	Y2767H	probably damaging	Het
Zfhx3	A	G	8: 109,519,394 (GRCm39)	N172S	probably damaging	Het
Zfp839	T	C	12: 110,821,597 (GRCm39)	V137A	probably benign	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
R2511:Slc9c1	UTSW	16	45,365,099 (GRCm39)	missense	possibly damaging	0.79
R3716:Slc9c1	UTSW	16	45,400,582 (GRCm39)	missense	probably benign
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'- GGATCTCCAAATTCCCCTGC -3'
(R):5'- GGAAGAGCACCCTTACAGAG -3'

Sequencing Primer
(F):5'- AATTCCCCTGCATGCATTTATAATC -3'
(R):5'- GAGCACCCTTACAGAGGCAAAAG -3'

Posted On

2015-04-02