Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01287:Slc9c1'

72765

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 #

IGL01287

Quality Score

Status

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 45584448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 848 (K848*)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably null
Transcript: ENSMUST00000159945
AA Change: K848*

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: K848*

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,257,757	K445E	probably damaging	Het
1700061G19Rik	C	T	17: 56,882,203	Q204*	probably null	Het
Abca15	A	T	7: 120,332,858		probably benign	Het
Acvr1c	A	T	2: 58,280,242	C371*	probably null	Het
AI464131	T	A	4: 41,498,923	I236F	possibly damaging	Het
Brs3	T	C	X: 57,047,367		probably benign	Het
Car14	C	T	3: 95,899,559	V198M	possibly damaging	Het
Cenpc1	G	A	5: 86,022,454	R704*	probably null	Het
Crybg1	C	T	10: 43,992,494	R1396H	possibly damaging	Het
Cubn	A	G	2: 13,310,566	S3019P	probably damaging	Het
Cyp2j9	T	C	4: 96,583,428	E222G	probably benign	Het
Defb50	C	A	8: 21,831,171	T59K	probably benign	Het
Dlg3	T	C	X: 100,807,242	I587T	possibly damaging	Het
Doc2a	C	T	7: 126,851,001	R204C	probably damaging	Het
Galc	T	C	12: 98,246,244		probably benign	Het
Gm8257	A	T	14: 44,655,343	F67I	probably damaging	Het
Hnrnpul1	A	T	7: 25,726,898	N509K	probably damaging	Het
Iars2	T	A	1: 185,296,428	I678F	possibly damaging	Het
Ifit1	A	G	19: 34,648,133	E223G	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrp4	C	A	2: 91,473,948	D157E	probably damaging	Het
Ltk	T	A	2: 119,755,705	T21S	probably benign	Het
Lvrn	A	T	18: 46,864,666		probably benign	Het
Maob	G	A	X: 16,712,642	A424V	probably damaging	Het
Myo1g	C	A	11: 6,515,856	V410F	possibly damaging	Het
Naxe	T	C	3: 88,056,674	H250R	probably damaging	Het
Nek5	T	C	8: 22,111,183	N174S	possibly damaging	Het
Olfr1158	A	G	2: 87,990,944	T278A	probably benign	Het
Olfr131	G	T	17: 38,082,107	N290K	probably damaging	Het
Olfr606	C	T	7: 103,451,795	R153W	probably damaging	Het
Pex1	A	G	5: 3,606,027	T285A	probably benign	Het
Pfas	A	G	11: 69,001,260	S141P	probably benign	Het
Pmm1	T	C	15: 81,955,744	T127A	probably damaging	Het
Proc	C	A	18: 32,123,820		probably benign	Het
Ranbp9	T	C	13: 43,480,504	E142G	probably damaging	Het
Recql4	C	A	15: 76,709,912		probably benign	Het
Robo4	C	T	9: 37,413,040	P955S	possibly damaging	Het
Ryr3	T	A	2: 112,709,073	N3274I	probably damaging	Het
Serpinb10	T	C	1: 107,540,882		probably benign	Het
Slfn5	A	G	11: 82,956,981	T231A	probably damaging	Het
Syncrip	T	C	9: 88,456,607		probably benign	Het
Syt16	A	T	12: 74,266,739	T480S	probably damaging	Het
Taf1c	G	A	8: 119,601,192	T293M	probably benign	Het
Tbc1d5	T	C	17: 50,813,798	D430G	possibly damaging	Het
Tbx18	T	C	9: 87,724,331	T254A	probably damaging	Het
Tpm1	C	T	9: 67,036,055	R105H	probably damaging	Het
Usp17la	T	C	7: 104,861,315	S376P	probably benign	Het
Vmn1r19	A	G	6: 57,405,194	D244G	probably damaging	Het
Vmn1r58	A	T	7: 5,411,055	F59I	probably benign	Het
Vmn2r45	A	T	7: 8,485,623	M136K	probably benign	Het
Vmn2r70	T	A	7: 85,569,019	R24*	probably null	Het
Vmn2r75	T	A	7: 86,148,593	I671F	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
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
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

2013-10-07