Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Slc9c1'

199426

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

039764-MU

Accession Numbers

Essential gene?

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

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45552928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 290 (T290A)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: T290A

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: T290A

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

unknown
Transcript: ENSMUST00000162151
AA Change: T261A

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Meta Mutation Damage Score

0.2365

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,219,221	Q1445K	probably benign	Het
Acacb	A	T	5: 114,190,087	M303L	possibly damaging	Het
Actl9	T	C	17: 33,433,122	V52A	probably damaging	Het
Adam7	T	C	14: 68,498,450	T781A	probably benign	Het
Agpat4	T	C	17: 12,216,728	V293A	probably benign	Het
Ank1	T	A	8: 23,111,463		probably benign	Het
Atp1a1	C	A	3: 101,584,799	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,600,254	F172L	probably damaging	Het
Bmp1	A	T	14: 70,486,265	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,761	I924N	probably benign	Het
Chek2	G	T	5: 110,872,102	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,232	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,740,812		probably null	Het
Col1a1	A	T	11: 94,944,415		probably benign	Het
Ctbp2	T	C	7: 132,998,924	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,510,247	D203G	probably benign	Het
Cyld	C	T	8: 88,731,667		probably benign	Het
Cyp3a57	A	T	5: 145,365,645	I84F	probably damaging	Het
Dennd3	T	A	15: 73,537,418		probably benign	Het
Desi2	A	C	1: 178,256,651		probably benign	Het
Dmxl1	T	A	18: 49,893,444	L1873*	probably null	Het
Dmxl1	T	A	18: 49,902,988	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,372,178	N880S	possibly damaging	Het
F10	T	C	8: 13,050,764	L214P	probably damaging	Het
F5	G	A	1: 164,174,150	V141M	probably damaging	Het
Fam135a	A	T	1: 24,026,653	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,487,134	N232K	probably benign	Het
Fyco1	T	C	9: 123,819,092	E1259G	probably benign	Het
Gak	A	T	5: 108,576,582	D1087E	probably benign	Het
Gm7138	A	T	10: 77,776,848		probably benign	Het
Gm8674	T	A	13: 49,901,926		noncoding transcript	Het
Gpr25	A	G	1: 136,260,128	V249A	probably benign	Het
Hcn3	T	C	3: 89,148,119	H607R	probably damaging	Het
Hdac4	T	A	1: 91,947,535	T905S	probably benign	Het
Itgad	T	C	7: 128,205,107	S86P	probably benign	Het
Itgb4	G	T	11: 115,988,918	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,709,755	T284S	probably benign	Het
Klhl22	T	A	16: 17,777,024	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mybpc2	C	A	7: 44,513,675	V484L	probably benign	Het
Noa1	A	T	5: 77,306,374	V473E	probably benign	Het
Nwd1	C	G	8: 72,666,835	S242C	possibly damaging	Het
Olfr545	C	A	7: 102,494,040	C245F	probably damaging	Het
Olfr868	A	G	9: 20,101,500	H247R	probably damaging	Het
Otof	A	T	5: 30,386,471	W535R	probably damaging	Het
Peg3	T	C	7: 6,709,085	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,757,166	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,789,627		probably null	Het
Plce1	G	T	19: 38,716,838	A896S	possibly damaging	Het
Prim1	T	C	10: 128,015,324	Y26H	probably damaging	Het
Prr12	T	A	7: 45,048,356	T712S	unknown	Het
Psme4	G	A	11: 30,848,105	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,586,545	E409G	probably benign	Het
Rabep1	A	G	11: 70,904,641	N274S	probably damaging	Het
Rbm14	A	G	19: 4,803,467	S296P	probably benign	Het
Rec114	A	G	9: 58,653,106	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,860,070	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,449,758		probably benign	Het
Slc34a1	A	G	13: 55,413,420	H566R	probably benign	Het
Smarcc1	T	A	9: 110,185,820		probably benign	Het
Srp54b	T	A	12: 55,252,759		probably null	Het
Stambpl1	C	G	19: 34,226,721	N70K	probably damaging	Het
Synj1	T	C	16: 90,964,230	K710E	probably damaging	Het
Tenm3	T	A	8: 48,310,634	D795V	probably damaging	Het
Tgm2	T	C	2: 158,134,357	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,082,867	A104S	probably damaging	Het
Top1mt	A	G	15: 75,666,251		probably null	Het
Tpgs1	T	A	10: 79,675,594	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,967,228	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,768,877	I197V	probably damaging	Het
Ube3b	A	G	5: 114,387,445	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,553,301	S164T	probably benign	Het
Zfp607a	G	T	7: 27,878,459	C318F	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGATCCATATTGGGGCTTTGCTGTC -3'
(R):5'- GGTGACCGGCTTTGTCTAAAATTATGC -3'

Sequencing Primer
(F):5'- GGTCCTTGCAGAATTCATCAG -3'
(R):5'- TGCATCAATGAATGTTACAGAAAAG -3'

Posted On

2014-05-23