Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01655:Slc9c1'

102962

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

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

IGL01655

Quality Score

Status

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45582972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 801 (M801L)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: M801L

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

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: M801L

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	G	A	3: 97,165,972		probably null	Het
Aida	T	A	1: 183,313,683	Y104*	probably null	Het
Cd300lg	T	C	11: 102,047,075	S244P	probably benign	Het
Ces4a	T	A	8: 105,147,174	L425Q	probably damaging	Het
Chrnb3	T	C	8: 27,394,174	V298A	probably damaging	Het
Cnot6	A	C	11: 49,677,304	F486C	probably damaging	Het
Ctnna3	A	G	10: 64,873,170	T663A	probably benign	Het
Cyp2j12	T	A	4: 96,115,577	K267N	possibly damaging	Het
Dclre1a	A	T	19: 56,547,057	Y32N	probably damaging	Het
Ddx21	A	G	10: 62,587,491	I644T	probably damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ercc6l2	T	A	13: 63,819,752	Y55*	probably null	Het
Esyt1	A	G	10: 128,522,312	I183T	possibly damaging	Het
Exoc8	T	C	8: 124,896,228	T467A	probably benign	Het
Fance	T	C	17: 28,322,779		probably benign	Het
Fbxo46	C	T	7: 19,136,310	R285W	probably damaging	Het
Ffar2	A	T	7: 30,819,587	V176E	probably damaging	Het
Fnbp1l	T	C	3: 122,568,749		probably null	Het
Gm10288	T	C	3: 146,838,810		noncoding transcript	Het
Gm12588	T	A	11: 121,907,951			Het
Gm9755	G	A	8: 67,515,233		noncoding transcript	Het
Gpr33	A	T	12: 52,023,560	M232K	probably damaging	Het
Haus5	A	T	7: 30,663,294		probably benign	Het
Ilvbl	A	G	10: 78,577,333		probably benign	Het
Kifap3	G	A	1: 163,796,049		probably benign	Het
Klhl26	T	C	8: 70,451,883	Y378C	probably damaging	Het
Lama4	G	A	10: 39,060,213	S628N	probably benign	Het
Lamc3	G	A	2: 31,898,278	R150H	probably damaging	Het
Mrgprx2	A	T	7: 48,482,691	C126*	probably null	Het
Myo3a	A	T	2: 22,423,326	D798V	probably damaging	Het
Ndufs1	A	T	1: 63,151,557	L44Q	probably damaging	Het
Nfrkb	G	T	9: 31,403,459	R525L	probably benign	Het
Olfr1124	T	A	2: 87,434,885	C133S	probably damaging	Het
Olfr1134	A	G	2: 87,656,429	F164S	probably damaging	Het
Olfr1287	T	C	2: 111,449,889	F250L	probably benign	Het
Olfr1370	T	C	13: 21,072,905	Y132C	probably damaging	Het
Olfr146	T	A	9: 39,018,918	I208F	probably benign	Het
Olfr394	T	C	11: 73,887,927	I148M	probably benign	Het
Olfr458	T	C	6: 42,460,540	T160A	probably benign	Het
Olfr735	A	G	14: 50,346,184	M86T	probably benign	Het
Olfr824	G	T	10: 130,126,991	T22K	probably benign	Het
Pias4	T	C	10: 81,155,658	K352E	probably benign	Het
Pkhd1	G	A	1: 20,534,633	Q1153*	probably null	Het
Pon1	C	A	6: 5,175,760	W254C	probably damaging	Het
Prr14	A	G	7: 127,475,767	T447A	probably benign	Het
Serpinb9g	T	A	13: 33,495,105	C319*	probably null	Het
Tenm4	C	T	7: 96,553,724	T182M	probably damaging	Het
Ubr4	T	A	4: 139,407,796	L813Q	probably damaging	Het
Uimc1	T	C	13: 55,028,704	E667G	probably benign	Het
Unc79	A	G	12: 103,168,287	T2173A	probably benign	Het
Unkl	T	C	17: 25,210,848	S142P	probably benign	Het
Vezt	A	G	10: 93,996,997	V204A	probably benign	Het
Vps53	A	T	11: 76,063,034	I402N	probably damaging	Het
Zfyve9	T	C	4: 108,642,092	D1343G	probably 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
IGL01671:Slc9c1	APN	16	45560315	missense	probably benign
IGL01720:Slc9c1	APN	16	45555769	missense	probably damaging	1.00
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
R8691:Slc9c1	UTSW	16	45606819	missense	probably benign	0.00
R8712:Slc9c1	UTSW	16	45560283	missense	probably benign	0.00
R9128:Slc9c1	UTSW	16	45580127	missense	probably benign	0.25
R9191:Slc9c1	UTSW	16	45599781	missense	possibly damaging	0.57
R9230:Slc9c1	UTSW	16	45577912	missense	possibly damaging	0.93
R9248:Slc9c1	UTSW	16	45550188	missense	probably benign	0.01
R9417:Slc9c1	UTSW	16	45593485	missense	probably benign	0.45
R9519:Slc9c1	UTSW	16	45575407	missense	probably damaging	1.00
R9570:Slc9c1	UTSW	16	45560342	missense	probably benign	0.13
R9686:Slc9c1	UTSW	16	45580214	missense	possibly damaging	0.72
R9695:Slc9c1	UTSW	16	45547663	missense	probably benign	0.00
R9742:Slc9c1	UTSW	16	45580253	missense	probably damaging	1.00
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