Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01720:Slc9c1'

105078

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, Slc9a10, spermNHE

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

IGL01720

Quality Score

Status

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45555769 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 406 (Y406C)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159945
AA Change: Y406C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: Y406C

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: Y377C

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,628,094	R1773Q	probably benign	Het
Apc2	T	C	10: 80,314,499	S1796P	probably benign	Het
Asxl3	A	T	18: 22,525,325	I2131F	probably damaging	Het
Cdc42bpa	T	A	1: 180,111,282	D833E	probably damaging	Het
Cenpc1	A	G	5: 86,045,425	S202P	possibly damaging	Het
Cenpf	T	C	1: 189,651,215	Y2636C	probably damaging	Het
Cenpf	T	C	1: 189,682,386	E178G	probably benign	Het
Chkb	C	T	15: 89,427,952		probably null	Het
Cldn20	A	G	17: 3,533,100	T183A	probably benign	Het
Cpne8	C	T	15: 90,501,500	V442I	probably benign	Het
Cx3cl1	T	A	8: 94,778,073	M39K	probably damaging	Het
Dgkd	T	A	1: 87,936,765	L124Q	probably damaging	Het
Fam180a	T	C	6: 35,313,565	H161R	probably benign	Het
Galt	C	A	4: 41,757,463	R212S	probably damaging	Het
Gja10	T	C	4: 32,601,007	D459G	probably benign	Het
Glb1	T	C	9: 114,420,505		probably null	Het
Gm13089	T	A	4: 143,696,840		probably benign	Het
Gm4981	A	C	10: 58,236,389	M1R	probably null	Het
Gm5709	A	T	3: 59,606,554		noncoding transcript	Het
Igf2r	A	G	17: 12,701,313	Y1380H	probably damaging	Het
Jag1	C	T	2: 137,087,103	G811D	probably damaging	Het
Lrguk	T	C	6: 34,043,477	F52S	probably damaging	Het
Lrrc15	A	T	16: 30,273,320	N400K	probably benign	Het
Map3k12	A	G	15: 102,502,186		probably benign	Het
Mbnl2	C	T	14: 120,325,270	T11I	probably damaging	Het
Mettl22	T	C	16: 8,484,253		probably benign	Het
Mgat4a	G	A	1: 37,444,898	A497V	probably damaging	Het
Mrpl49	C	A	19: 6,055,157	M91I	possibly damaging	Het
Olfr450	G	A	6: 42,817,593	V41I	probably benign	Het
Olfr700	A	T	7: 106,806,209	D84E	probably damaging	Het
Pcdhb5	T	G	18: 37,321,022	S152A	probably benign	Het
Ppp1r13b	T	C	12: 111,858,260	T102A	probably benign	Het
Prodh2	A	G	7: 30,511,203	D393G	probably damaging	Het
Pyroxd1	A	G	6: 142,351,058		probably benign	Het
Rad17	A	T	13: 100,622,858	C554S	possibly damaging	Het
Rapgef5	T	C	12: 117,613,435		probably benign	Het
Setdb2	A	G	14: 59,423,436	V86A	possibly damaging	Het
Slc38a2	A	T	15: 96,691,211		probably benign	Het
Slit1	T	C	19: 41,634,214	D702G	probably benign	Het
Stat3	T	C	11: 100,903,658	H275R	possibly damaging	Het
Susd5	T	A	9: 114,063,984	N43K	possibly damaging	Het
Ttc3	A	T	16: 94,385,369	K124N	probably damaging	Het
Usp36	C	A	11: 118,275,002	R165L	probably damaging	Het
Vwf	G	A	6: 125,642,835	R1492Q	possibly damaging	Het
Wdr66	A	G	5: 123,322,494	D1173G	probably benign	Het
Zbed6	A	G	1: 133,657,526	V691A	possibly damaging	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
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
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

Posted On

2014-01-21