Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Slc9c1'

328719

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, Slc9a10, spermNHE

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

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

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45599466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1000 (I1000F)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: I1000F

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I1000F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,368,187		probably null	Het
Acsm2	A	G	7: 119,554,509	H14R	unknown	Het
Adamtsl4	T	C	3: 95,681,759		probably null	Het
Ak5	A	G	3: 152,655,880	I135T	probably damaging	Het
Alk	G	T	17: 71,899,241	S1038*	probably null	Het
Ank2	A	T	3: 126,947,806		probably benign	Het
Ap2m1	A	T	16: 20,543,384	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,282,024	M649K	probably damaging	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Cdc25b	A	G	2: 131,191,698	S186G	probably benign	Het
Ceacam16	A	G	7: 19,853,589	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,778,853	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,314,383	V172F	possibly damaging	Het
E430018J23Rik	T	G	7: 127,393,002	Q87P	possibly damaging	Het
Eef2	CCC	CCCC	10: 81,178,768		probably null	Het
Esp36	T	A	17: 38,418,956	T15S	unknown	Het
Fam126a	A	C	5: 23,979,581	C218G	possibly damaging	Het
Fam26f	T	A	10: 34,127,831	T27S	probably damaging	Het
Fat2	A	T	11: 55,309,640	H869Q	possibly damaging	Het
Fat3	A	G	9: 16,031,152	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,765,946	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,317,148	K13R	probably benign	Het
Kdr	A	G	5: 75,943,925	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,396,260		probably benign	Het
Neto2	G	A	8: 85,641,083	T337I	probably damaging	Het
Nfib	C	T	4: 82,498,435	R137Q	probably damaging	Het
Nr3c2	A	G	8: 77,217,467	E890G	probably damaging	Het
Nsun4	A	G	4: 116,040,130	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,215,896	S263T	probably benign	Het
Ntm	A	T	9: 29,012,220	Y45*	probably null	Het
Nts	A	G	10: 102,485,027	V67A	probably benign	Het
Olfr1288	T	A	2: 111,479,412	C209*	probably null	Het
Olfr378	A	T	11: 73,425,711	S91T	possibly damaging	Het
Olfr384	A	G	11: 73,602,886	Y102C	probably damaging	Het
Olfr610	T	A	7: 103,506,139	K269M	probably benign	Het
Ostm1	C	A	10: 42,679,123	A47E	probably benign	Het
Otol1	G	A	3: 70,018,548	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,475,512	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,681,251	I265T	probably damaging	Het
Pdzd3	T	C	9: 44,247,988	*499W	probably null	Het
Pex14	T	C	4: 148,961,510	E321G	possibly damaging	Het
Phactr3	C	A	2: 178,283,132	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,221,141	T313M	probably benign	Het
Plce1	A	T	19: 38,767,301	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,114,570		noncoding transcript	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rhob	A	G	12: 8,499,533	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,387,340	T408M	probably damaging	Het
Tcf7	G	T	11: 52,261,615	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,788,769	E62Q	probably damaging	Het
Tctex1d4	C	T	4: 117,128,123	R48C	probably damaging	Het
Tll2	A	G	19: 41,121,348	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,184,473	N288S	probably benign	Het
Zfhx3	G	A	8: 108,955,637	R3236H	unknown	Het
Zgrf1	A	G	3: 127,562,078	T318A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGTTCAAGATTGCAAGCCTG -3'
(R):5'- CACAGGCTCATGACACTAGC -3'

Sequencing Primer
(F):5'- GCCTGAGCTAATAAATGCATTTTATG -3'
(R):5'- GGCTCATGACACTAGCTTACAGTC -3'

Posted On

2015-07-21