Mutagenetix > Incidental Mutation

Incidental Mutation 'R7268:Slc9c1'

565105

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 #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45550116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 240 (S240N)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000159945
AA Change: S240N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: S240N

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

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abl2	T	C	1: 156,633,939		probably null	Het
Acsf3	A	G	8: 122,790,662	Y399C	probably benign	Het
Acsm5	A	T	7: 119,537,288	T361S	probably benign	Het
Agap1	T	G	1: 89,766,348	I456S	probably benign	Het
Ahnak2	A	T	12: 112,780,802	V70E		Het
Alb	T	A	5: 90,462,716	S52T	probably benign	Het
Ankle1	A	G	8: 71,407,545	T256A	probably damaging	Het
Armt1	G	A	10: 4,450,855	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,467,729	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,719,866	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,215,042	W578R	possibly damaging	Het
Babam2	T	C	5: 31,701,853	S2P	probably damaging	Het
Baz2a	A	G	10: 128,124,221	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,604,426	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,370,588	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,273,745		probably null	Het
Car10	A	G	11: 93,599,251	N273D	probably benign	Het
Ccdc66	T	C	14: 27,486,923	D458G	probably benign	Het
Ccdc7a	T	A	8: 128,881,152	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,207,398	K386E	possibly damaging	Het
Ctcfl	A	G	2: 173,107,795	I415T	probably benign	Het
Cyp3a16	G	C	5: 145,467,470	Y54*	probably null	Het
Dact2	T	C	17: 14,196,535	T468A	probably benign	Het
Dgkb	T	A	12: 38,147,555	L355*	probably null	Het
Dhx40	A	T	11: 86,806,616	C42S	possibly damaging	Het
Dopey1	G	T	9: 86,512,777	E637*	probably null	Het
Dpp4	G	T	2: 62,347,842	P649T	probably damaging	Het
Eri3	T	A	4: 117,649,383	I303K	probably benign	Het
Foxi1	A	T	11: 34,205,783	Y282*	probably null	Het
Gdi2	T	A	13: 3,556,363	Y146*	probably null	Het
Gns	A	G	10: 121,376,652	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,858,371	P494Q	possibly damaging	Het
Habp2	G	T	19: 56,314,086	G274V	probably damaging	Het
Hcfc2	T	A	10: 82,709,012	Y159*	probably null	Het
Hmcn2	T	A	2: 31,457,966	S4875T	possibly damaging	Het
Hmgcs2	A	G	3: 98,297,480	N318S	probably benign	Het
Lnpep	A	T	17: 17,538,541	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366	M374L	probably benign	Het
Mrpl38	A	G	11: 116,138,570	I40T	possibly damaging	Het
Ncstn	T	C	1: 172,081,263	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,124,242	V61I	probably benign	Het
Npas2	G	T	1: 39,287,577	V48L	probably damaging	Het
Olfr1339	A	G	4: 118,735,408	Y293C	probably damaging	Het
Olfr655	G	A	7: 104,597,077	L35F	probably benign	Het
Olfr782	C	T	10: 129,351,394	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,391,731	N268K	possibly damaging	Het
Pramef17	A	T	4: 143,993,520		probably null	Het
Prr27	T	C	5: 87,843,276	L249P	probably damaging	Het
Psat1	A	T	19: 15,917,144	V168D	probably damaging	Het
Psg17	G	T	7: 18,814,661	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,206,756	Y447H	probably benign	Het
Rad50	T	A	11: 53,684,275	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,295,263	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,142,124	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,315,053	D331Y	probably damaging	Het
Slf1	A	G	13: 77,066,707	L620P	probably damaging	Het
Snx19	A	G	9: 30,440,177	E847G	probably damaging	Het
Spaca6	T	C	17: 17,832,107	V103A	probably benign	Het
Tbk1	A	G	10: 121,552,499	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tfap2a	G	A	13: 40,728,760	T15I	possibly damaging	Het
Tgm2	G	A	2: 158,120,268	R544*	probably null	Het
Tmem116	T	A	5: 121,467,855	I90K		Het
Tmem30c	A	C	16: 57,266,414	L342R	probably damaging	Het
Trpm6	C	T	19: 18,778,585	T64I	probably benign	Het
Ttll8	A	G	15: 88,934,956		probably null	Het
Vcpip1	A	G	1: 9,746,082	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,577,428	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,893,953	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,340,465	Y401*	probably null	Het
Wdr91	A	G	6: 34,892,440	V383A	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
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'- GAAGGGATACTTGTACTCTGATGTTC -3'
(R):5'- TTCTCTGTGTAACAGTGTGCAC -3'

Sequencing Primer
(F):5'- ACTCTGATGTTCATTTTAACAGAGC -3'
(R):5'- CATAGTTATCTGTTCTTTGCCGG -3'

Posted On

2019-06-26