Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Slc9c1'

89976

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

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

Stock #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

45355672-45427364 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 45409992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably null
Transcript: ENSMUST00000159945

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Enpp4	T	C	17: 44,410,494 (GRCm39)	K361E	possibly damaging	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Erbb4	T	A	1: 68,329,441 (GRCm39)	Y636F	probably benign	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Ppil3	T	C	1: 58,483,750 (GRCm39)	M1V	probably null	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Usp43	T	C	11: 67,746,764 (GRCm39)	D981G	probably benign	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Vmn2r50	C	T	7: 9,771,610 (GRCm39)	C697Y	probably damaging	Het
Zcchc8	A	C	5: 123,858,782 (GRCm39)		probably null	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
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
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

Posted On

2013-12-03