Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Slc9c1'

721952

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 #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45560342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 544 (I544L)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: I544L

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I544L

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: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 40,824,650	T26I	probably benign	Het
Adgrg7	A	G	16: 56,750,450	L405P	probably damaging	Het
AI314180	G	A	4: 58,832,796	R855*	probably null	Het
Ankle1	A	G	8: 71,406,780	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,253,677	D1609E		Het
Anpep	A	G	7: 79,826,913	V772A	probably benign	Het
Anxa8	T	C	14: 34,092,552	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,905,838	F216S	probably damaging	Het
Aplf	T	A	6: 87,663,799	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,640,571	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,208	Y120F		Het
Atg2a	T	A	19: 6,255,719	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,525,988	F743S	probably benign	Het
Best1	A	T	19: 9,992,967	W94R	probably damaging	Het
Catsper3	T	C	13: 55,805,856		probably null	Het
Ccdc80	A	T	16: 45,095,086	E68D	probably benign	Het
Col8a1	T	A	16: 57,628,176	I324F	unknown	Het
Coro1c	G	A	5: 113,865,755	R68*	probably null	Het
Dennd4c	A	G	4: 86,828,971	D1464G	possibly damaging	Het
Dgat2	C	T	7: 99,169,719	V77I	possibly damaging	Het
Ednra	A	C	8: 77,667,332	N378K	possibly damaging	Het
Eml5	A	T	12: 98,815,984	D178E	probably benign	Het
Ethe1	G	T	7: 24,593,811		probably benign	Het
Fgf21	C	T	7: 45,615,170	R46Q	probably damaging	Het
Flt3	C	T	5: 147,372,614	V198M	possibly damaging	Het
Fryl	T	C	5: 73,022,155	N2970D	probably benign	Het
Gm2022	A	G	12: 87,895,764	D132G	unknown	Het
Gtf2e2	T	A	8: 33,762,048	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,265,773	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,546,382	G188R	probably damaging	Het
Gzmc	A	C	14: 56,231,585	S226A	probably benign	Het
Hhatl	A	T	9: 121,784,216	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,682,468	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 116,000,174	W69R	probably benign	Het
Kcnk3	T	C	5: 30,622,089	L161P	possibly damaging	Het
Klk6	A	G	7: 43,828,543	D113G	probably damaging	Het
Map3k5	A	G	10: 20,000,568	I158V	probably benign	Het
March8	T	A	6: 116,405,678	M434K	probably benign	Het
Mcc	T	C	18: 44,445,858	R828G	probably damaging	Het
Muc4	A	T	16: 32,750,877	T252S	possibly damaging	Het
Naip5	T	C	13: 100,223,313	T472A	probably benign	Het
Nme7	A	G	1: 164,379,392	D282G	probably benign	Het
Npdc1	G	T	2: 25,408,300	A228S	probably benign	Het
Nrbp1	T	A	5: 31,243,928	S49R	probably damaging	Het
Ntan1	T	C	16: 13,819,384	V10A	possibly damaging	Het
Olfr1358	T	C	10: 78,520,250	V214A	probably benign	Het
Olfr518	A	G	7: 108,881,297	V103A	possibly damaging	Het
Olfr66	A	G	7: 103,881,649	V198A	probably benign	Het
Pdcd2l	T	C	7: 34,192,976	D156G	probably benign	Het
Pde11a	A	G	2: 76,046,813	S771P	probably damaging	Het
Pilra	T	A	5: 137,836,080	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,890,697	E1237V		Het
Pkp2	A	T	16: 16,260,414	T507S	possibly damaging	Het
Polm	A	G	11: 5,829,713	Y362H	probably damaging	Het
Pramef8	A	T	4: 143,417,944	M287L	probably benign	Het
Prcd	C	T	11: 116,659,757	S85F	possibly damaging	Het
Prox2	G	A	12: 85,094,992	Q146*	probably null	Het
Ptger1	T	C	8: 83,668,832	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,398,149	E44G	probably damaging	Het
Rai1	A	G	11: 60,185,742	T211A	probably benign	Het
Rgl1	C	A	1: 152,554,331	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,149,890	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,360,529		probably null	Het
Selenon	C	T	4: 134,542,744	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,139,555	H368L	possibly damaging	Het
Smarca4	A	G	9: 21,669,553	E993G	probably damaging	Het
Stab1	T	A	14: 31,142,681	I1966F	probably benign	Het
Stard9	G	A	2: 120,704,233	S3657N	probably benign	Het
Tex15	G	A	8: 33,577,281	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,713,734	N264I	possibly damaging	Het
Use1	T	A	8: 71,367,829	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,475,066	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,637,734	I7V	probably benign	Het
Vps8	T	A	16: 21,644,203	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,650,582	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,258,500	T891I	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
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
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'- CGCCAGATTCTGTTATTTCCCAA -3'
(R):5'- CACCCAGTGTTTCTCTTTCTGAA -3'

Sequencing Primer
(F):5'- GTTATTTCCCAAAACAACTAGTGTG -3'
(R):5'- TGAATTCCCCCAATGCTGG -3'

Posted On

2022-08-09