Mutagenetix > Incidental Mutation

Incidental Mutation 'R8302:Slc9c1'

646471

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

067790-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R8302 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45355672-45427364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45368058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 216 (F216L)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: F216L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: F216L

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: ENSMUST00000162774

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,853,406 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,840,810 (GRCm39)	S1937P	possibly damaging	Het
Atg5	T	A	10: 44,162,115 (GRCm39)	D10E	probably benign	Het
Car12	A	G	9: 66,654,879 (GRCm39)	D103G	probably benign	Het
Cpa3	A	G	3: 20,276,316 (GRCm39)	Y306H	probably damaging	Het
Cyp2c40	A	G	19: 39,796,066 (GRCm39)	V104A	probably damaging	Het
Cyp2c66	A	T	19: 39,165,078 (GRCm39)	H353L	probably damaging	Het
Cyp2d22	A	G	15: 82,256,021 (GRCm39)		probably null	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Exph5	A	G	9: 53,287,776 (GRCm39)	E1619G	possibly damaging	Het
Frmd5	T	A	2: 121,378,060 (GRCm39)	T435S	unknown	Het
Gm3371	T	C	14: 44,641,181 (GRCm39)	R128G		Het
Gper1	A	G	5: 139,412,030 (GRCm39)	D125G	probably benign	Het
Il17re	C	A	6: 113,443,280 (GRCm39)	S340*	probably null	Het
Kazald1	T	A	19: 45,065,278 (GRCm39)	L53Q	probably damaging	Het
Kdm3b	A	T	18: 34,967,388 (GRCm39)	H1731L	probably damaging	Het
Kif20a	T	C	18: 34,765,030 (GRCm39)	S755P	probably damaging	Het
Lrch1	T	C	14: 75,032,772 (GRCm39)	N526S	probably benign	Het
Map3k8	T	C	18: 4,334,064 (GRCm39)	I343V	probably damaging	Het
Nabp1	A	T	1: 51,511,498 (GRCm39)	F140L	probably benign	Het
Ncor1	A	G	11: 62,224,681 (GRCm39)	S860P	probably benign	Het
Ndufaf5	T	A	2: 140,030,698 (GRCm39)	Y195N	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,056 (GRCm39)	L157P	probably damaging	Het
Or2aj5	T	A	16: 19,425,116 (GRCm39)	I100L	probably benign	Het
Or4c104	T	A	2: 88,586,987 (GRCm39)	I11F	possibly damaging	Het
Or5ak24	T	A	2: 85,260,430 (GRCm39)	T248S	possibly damaging	Het
Pcdh10	A	G	3: 45,335,933 (GRCm39)	Y749C	probably damaging	Het
Plcz1	T	A	6: 139,974,163 (GRCm39)	K93I	probably damaging	Het
Plpbp	T	C	8: 27,539,216 (GRCm39)	S109P		Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Psma6	A	T	12: 55,456,966 (GRCm39)	Y103F	probably benign	Het
Ptpn3	A	G	4: 57,218,514 (GRCm39)	F650L	probably benign	Het
Pxk	T	C	14: 8,164,094 (GRCm38)	F562S	probably damaging	Het
Rbl2	A	G	8: 91,812,073 (GRCm39)	D214G	probably damaging	Het
Rgs17	C	T	10: 5,812,525 (GRCm39)	C58Y	possibly damaging	Het
Rnf6	A	T	5: 146,148,334 (GRCm39)	V228E	probably benign	Het
Sardh	T	C	2: 27,105,122 (GRCm39)	D667G	probably benign	Het
Slc12a1	T	A	2: 125,032,209 (GRCm39)	V620D	probably damaging	Het
Slc39a7	A	G	17: 34,249,686 (GRCm39)	I153T	probably damaging	Het
Slc5a11	T	C	7: 122,847,162 (GRCm39)	V125A	probably damaging	Het
Strip1	A	T	3: 107,533,024 (GRCm39)	I208N	probably damaging	Het
Top1	T	C	2: 160,545,496 (GRCm39)	M288T	probably damaging	Het
Tpbgl	G	T	7: 99,274,774 (GRCm39)	A361E	probably damaging	Het
Trmt2a	T	C	16: 18,067,813 (GRCm39)	V162A	probably damaging	Het
Wdr35	T	C	12: 9,078,110 (GRCm39)	I1167T	probably benign	Het
Wdr76	C	A	2: 121,341,044 (GRCm39)	H30N	probably benign	Het
Zan	A	G	5: 137,407,923 (GRCm39)	S3624P	unknown	Het
Zc3h7a	T	C	16: 10,955,249 (GRCm39)	K942E	probably damaging	Het
Zfp292	A	G	4: 34,810,893 (GRCm39)	V722A	possibly damaging	Het
Zfp943	A	G	17: 22,211,091 (GRCm39)	H59R	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
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
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'- CTTTGGGAAGAAAACTGCTAGAC -3'
(R):5'- TGATCCTCTGGGAAGCTTCAC -3'

Sequencing Primer
(F):5'- CAGATGAGAACCCATGGTTAATG -3'
(R):5'- TCTGGGAAGCTTCACCCCAG -3'

Posted On

2020-09-02