Mutagenetix > Incidental Mutation

Incidental Mutation 'R9248:Slc9c1'

701390

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

Accession Numbers

Essential gene?

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

Stock #

R9248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45550188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 264 (N264S)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: N264S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: N264S

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: ENSMUST00000162774

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 119,153,934	N132S	probably benign	Het
Agpat2	A	G	2: 26,593,589	*279Q	probably null	Het
Akr1c19	C	A	13: 4,242,975	D243E	probably benign	Het
Alg2	A	G	4: 47,474,001	F96L	probably benign	Het
Apob	C	T	12: 8,015,231	Q4067*	probably null	Het
C1ra	A	T	6: 124,512,621		probably benign	Het
C8a	T	C	4: 104,846,002	Y330C	probably damaging	Het
Ccdc185	A	G	1: 182,748,656	V156A	probably benign	Het
Ces1g	A	G	8: 93,333,691	L100P	possibly damaging	Het
Cnbd1	T	C	4: 18,862,113	N359S	possibly damaging	Het
Crybb2	C	T	5: 113,063,228	A65T	probably benign	Het
Dcaf5	T	C	12: 80,339,789	D521G	probably benign	Het
Dnmt1	A	G	9: 20,922,112	F631L	possibly damaging	Het
Dok1	T	A	6: 83,031,912	D263V	possibly damaging	Het
Ecel1	A	G	1: 87,153,390	F293L	probably benign	Het
Ehmt1	A	T	2: 24,848,065	L509Q	possibly damaging	Het
Fbln2	T	A	6: 91,254,574	V551E	possibly damaging	Het
Fig4	C	T	10: 41,277,482	V108I	probably benign	Het
Gpa33	A	G	1: 166,163,827	Y209C	probably damaging	Het
Heatr5a	T	C	12: 51,916,243	H52R		Het
Heatr9	A	T	11: 83,518,455	D157E	possibly damaging	Het
Jakmip2	A	C	18: 43,552,177	M682R	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Layn	A	G	9: 51,057,460	S328P	possibly damaging	Het
Mblac2	A	G	13: 81,711,650	D41G	probably damaging	Het
Mboat1	A	G	13: 30,226,409	Y283C	probably damaging	Het
Mdga2	A	G	12: 66,689,452	V334A	possibly damaging	Het
Mroh4	C	T	15: 74,613,318	R515H	possibly damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nsrp1	G	A	11: 77,046,210	R387W	probably benign	Het
Olfr483	T	C	7: 108,104,049	S247P	probably damaging	Het
Olfr894	T	C	9: 38,219,410	Y193H	probably benign	Het
Ostm1	T	C	10: 42,698,214	V301A	probably damaging	Het
Pcdhb13	A	T	18: 37,444,555	D662V	probably damaging	Het
Pfpl	T	A	19: 12,429,010	S208R	probably damaging	Het
Plin5	A	T	17: 56,112,324	V366E	probably damaging	Het
Rmi1	A	G	13: 58,409,085	I383V	probably benign	Het
Rnh1	T	C	7: 141,160,801	T414A	probably benign	Het
Sash1	C	A	10: 8,741,532	G537W	probably damaging	Het
Speg	A	C	1: 75,421,776	T1956P	probably damaging	Het
St14	T	C	9: 31,091,609	Y666C	probably damaging	Het
Stab2	T	A	10: 86,891,617	H1448L	probably damaging	Het
Syne2	C	T	12: 76,107,456		probably benign	Het
Taf9	T	A	13: 100,654,352		probably benign	Het
Thumpd2	G	A	17: 81,026,611	A516V	possibly damaging	Het
Tmem132e	A	G	11: 82,444,482	K797E	probably damaging	Het
Tpte	A	G	8: 22,351,473	T494A	possibly damaging	Het
Ttc41	T	A	10: 86,731,249	L593Q	probably benign	Het
Uggt1	A	C	1: 36,210,022	I279S	possibly damaging	Het
Uxs1	A	G	1: 43,764,924	F277S	probably damaging	Het
Vat1	A	T	11: 101,460,554	N320K	possibly damaging	Het
Wdr81	G	T	11: 75,445,430	A592E		Het
Zfp780b	C	T	7: 27,973,718		probably null	Het
Zfp944	A	T	17: 22,343,638		probably null	Het
Zfp956	G	T	6: 47,957,503	G136W	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
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
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'- TCATTTAACATGAAGGCCAAGTGAG -3'
(R):5'- AATGGTATTGACTTTCTATGCCTGG -3'

Sequencing Primer
(F):5'- GCCAAGTGAGTTCTATGACCAGTC -3'
(R):5'- TCTCTGTGTAACAGTGTGCAC -3'

Posted On

2022-03-25