Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03184:Slc9c1'

412361

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

IGL03184

Quality Score

Status

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45547640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 197 (S197R)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000159945
AA Change: S197R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: S197R

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: S168R

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,323,451 (GRCm38)	Y992H	possibly damaging	Het
Adcy7	T	A	8: 88,308,643 (GRCm38)	D58E	probably benign	Het
Aff2	G	A	X: 69,767,234 (GRCm38)	V404M	possibly damaging	Het
Ankhd1	T	A	18: 36,647,777 (GRCm38)	L1961M	probably damaging	Het
BC024978	A	G	7: 27,197,007 (GRCm38)		probably benign	Het
Brms1l	T	C	12: 55,868,277 (GRCm38)	*324Q	probably null	Het
Bub1b	T	C	2: 118,609,777 (GRCm38)		probably benign	Het
Cacna1b	A	G	2: 24,658,489 (GRCm38)		probably null	Het
Clrn1	T	A	3: 58,846,224 (GRCm38)	T239S	probably benign	Het
Clta	T	C	4: 44,025,514 (GRCm38)	Y145H	probably benign	Het
Coro6	T	C	11: 77,463,953 (GRCm38)	V14A	probably damaging	Het
Cyp4a30b	A	G	4: 115,459,019 (GRCm38)	D314G	probably damaging	Het
Fn1	T	C	1: 71,609,497 (GRCm38)	N1418D	probably benign	Het
Fshr	A	C	17: 89,046,640 (GRCm38)	L97V	possibly damaging	Het
Gcm2	T	C	13: 41,105,412 (GRCm38)	Q152R	probably damaging	Het
Gcnt2	A	G	13: 40,888,184 (GRCm38)	N273S	probably benign	Het
Gm11437	A	T	11: 84,156,264 (GRCm38)		probably benign	Het
Gm4559	A	G	7: 142,274,309 (GRCm38)	S19P	unknown	Het
Igsf8	T	G	1: 172,318,632 (GRCm38)	I462R	probably damaging	Het
Kirrel3	T	C	9: 35,007,756 (GRCm38)	F243S	probably damaging	Het
Krt80	C	T	15: 101,352,254 (GRCm38)	V37M	probably damaging	Het
Lama4	T	C	10: 39,078,843 (GRCm38)	Y1131H	probably damaging	Het
Mrpl21	T	C	19: 3,292,529 (GRCm38)		probably benign	Het
Mtcl1	T	C	17: 66,354,214 (GRCm38)	N923S	probably benign	Het
Nectin2	G	A	7: 19,738,306 (GRCm38)	P53S	possibly damaging	Het
Nup98	G	A	7: 102,183,545 (GRCm38)	T335I	probably damaging	Het
Olfr1247	T	C	2: 89,609,568 (GRCm38)	D178G	probably damaging	Het
Olfr1391	C	A	11: 49,327,741 (GRCm38)	T110K	probably damaging	Het
Olfr1507	A	G	14: 52,490,923 (GRCm38)	S14P	probably benign	Het
Olfr643	T	A	7: 104,058,847 (GRCm38)	I252F	probably damaging	Het
Olfr822	T	C	10: 130,074,758 (GRCm38)	M116T	possibly damaging	Het
Pcdhb14	A	G	18: 37,449,032 (GRCm38)	E397G	probably benign	Het
Pcgf5	T	G	19: 36,434,676 (GRCm38)		probably benign	Het
Pclo	C	T	5: 14,714,443 (GRCm38)	P1025L	probably damaging	Het
Pdcd1lg2	C	A	19: 29,454,511 (GRCm38)	F226L	probably benign	Het
Pik3ca	T	A	3: 32,439,886 (GRCm38)	S332R	probably benign	Het
Plek	A	T	11: 16,981,887 (GRCm38)	D321E	probably benign	Het
Pm20d2	A	G	4: 33,179,241 (GRCm38)	F333L	probably damaging	Het
Polk	T	C	13: 96,483,983 (GRCm38)	T570A	probably benign	Het
Rpgrip1l	G	A	8: 91,300,809 (GRCm38)	L201F	probably damaging	Het
Serpinb2	T	A	1: 107,524,877 (GRCm38)	L395H	probably damaging	Het
Smg1	T	A	7: 118,180,380 (GRCm38)	E1264V	possibly damaging	Het
Sned1	A	G	1: 93,274,668 (GRCm38)	D678G	probably benign	Het
Sorcs2	A	G	5: 36,031,212 (GRCm38)	S851P	probably benign	Het
Srcap	A	G	7: 127,530,502 (GRCm38)		probably benign	Het
Tbck	T	C	3: 132,736,103 (GRCm38)	Y557H	probably damaging	Het
Tfap2d	T	C	1: 19,118,886 (GRCm38)	S219P	probably damaging	Het
Trim9	T	C	12: 70,251,221 (GRCm38)	D570G	probably damaging	Het
Usp25	A	G	16: 77,081,653 (GRCm38)	Y655C	probably damaging	Het
Utrn	T	A	10: 12,710,166 (GRCm38)	T956S	probably benign	Het
Vmn1r68	T	A	7: 10,527,872 (GRCm38)	I100F	probably benign	Het
Vps13a	A	T	19: 16,654,370 (GRCm38)	S2634T	probably benign	Het
Zfp472	T	A	17: 32,977,416 (GRCm38)	L155*	probably null	Het
Zfp808	A	G	13: 62,169,567 (GRCm38)	I43M	possibly damaging	Het

Other mutations in Slc9c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc9c1	APN	16	45,573,389 (GRCm38)	missense	possibly damaging	0.93
IGL00510:Slc9c1	APN	16	45,539,639 (GRCm38)	missense	probably benign	0.00
IGL00949:Slc9c1	APN	16	45,593,358 (GRCm38)	missense	probably benign
IGL01287:Slc9c1	APN	16	45,584,448 (GRCm38)	nonsense	probably null
IGL01536:Slc9c1	APN	16	45,589,629 (GRCm38)	critical splice donor site	probably null
IGL01655:Slc9c1	APN	16	45,582,972 (GRCm38)	missense	probably benign
IGL01671:Slc9c1	APN	16	45,560,315 (GRCm38)	missense	probably benign
IGL01720:Slc9c1	APN	16	45,555,769 (GRCm38)	missense	probably damaging	1.00
IGL01758:Slc9c1	APN	16	45,541,461 (GRCm38)	missense	probably damaging	1.00
IGL02031:Slc9c1	APN	16	45,599,470 (GRCm38)	missense	probably benign	0.00
IGL02321:Slc9c1	APN	16	45,556,614 (GRCm38)	missense	probably benign	0.02
IGL02472:Slc9c1	APN	16	45,580,142 (GRCm38)	missense	probably benign	0.10
IGL02516:Slc9c1	APN	16	45,577,875 (GRCm38)	missense	probably damaging	0.96
IGL02732:Slc9c1	APN	16	45,550,185 (GRCm38)	missense	possibly damaging	0.78
IGL02741:Slc9c1	APN	16	45,581,598 (GRCm38)	missense	possibly damaging	0.48
IGL02795:Slc9c1	APN	16	45,575,419 (GRCm38)	missense	probably benign	0.06
IGL03032:Slc9c1	APN	16	45,543,261 (GRCm38)	splice site	probably benign
IGL03062:Slc9c1	APN	16	45,599,758 (GRCm38)	missense	probably benign	0.20
IGL03351:Slc9c1	APN	16	45,543,168 (GRCm38)	missense	probably benign	0.01
P0041:Slc9c1	UTSW	16	45,550,161 (GRCm38)	missense	possibly damaging	0.65
R0052:Slc9c1	UTSW	16	45,606,856 (GRCm38)	utr 3 prime	probably benign
R0107:Slc9c1	UTSW	16	45,575,420 (GRCm38)	missense	probably benign	0.00
R0255:Slc9c1	UTSW	16	45,554,300 (GRCm38)	missense	probably benign	0.25
R0316:Slc9c1	UTSW	16	45,580,232 (GRCm38)	missense	possibly damaging	0.72
R0437:Slc9c1	UTSW	16	45,599,887 (GRCm38)	splice site	probably benign
R0611:Slc9c1	UTSW	16	45,581,602 (GRCm38)	missense	possibly damaging	0.83
R0624:Slc9c1	UTSW	16	45,573,356 (GRCm38)	missense	probably benign	0.00
R0630:Slc9c1	UTSW	16	45,543,120 (GRCm38)	splice site	probably benign
R1106:Slc9c1	UTSW	16	45,555,807 (GRCm38)	missense	possibly damaging	0.66
R1396:Slc9c1	UTSW	16	45,573,347 (GRCm38)	missense	probably benign	0.43
R1727:Slc9c1	UTSW	16	45,601,961 (GRCm38)	missense	probably benign	0.27
R1732:Slc9c1	UTSW	16	45,552,928 (GRCm38)	missense	probably benign	0.21
R1754:Slc9c1	UTSW	16	45,589,509 (GRCm38)	missense	probably benign	0.11
R1799:Slc9c1	UTSW	16	45,554,289 (GRCm38)	missense	probably damaging	1.00
R1802:Slc9c1	UTSW	16	45,558,281 (GRCm38)	missense	probably benign
R1813:Slc9c1	UTSW	16	45,573,347 (GRCm38)	missense	probably benign	0.43
R1972:Slc9c1	UTSW	16	45,593,472 (GRCm38)	missense	possibly damaging	0.89
R1985:Slc9c1	UTSW	16	45,550,106 (GRCm38)	missense	probably benign	0.01
R1995:Slc9c1	UTSW	16	45,554,255 (GRCm38)	missense	probably damaging	0.99
R2045:Slc9c1	UTSW	16	45,580,250 (GRCm38)	missense	probably damaging	1.00
R2146:Slc9c1	UTSW	16	45,593,464 (GRCm38)	missense	probably benign	0.19
R2511:Slc9c1	UTSW	16	45,544,736 (GRCm38)	missense	possibly damaging	0.79
R3716:Slc9c1	UTSW	16	45,580,219 (GRCm38)	missense	probably benign
R3765:Slc9c1	UTSW	16	45,590,881 (GRCm38)	missense	possibly damaging	0.89
R3936:Slc9c1	UTSW	16	45,606,830 (GRCm38)	utr 3 prime	probably benign
R4051:Slc9c1	UTSW	16	45,543,230 (GRCm38)	missense	probably damaging	1.00
R4302:Slc9c1	UTSW	16	45,544,791 (GRCm38)	missense	probably benign	0.35
R4433:Slc9c1	UTSW	16	45,599,466 (GRCm38)	missense	possibly damaging	0.93
R4651:Slc9c1	UTSW	16	45,547,393 (GRCm38)	makesense	probably null
R4928:Slc9c1	UTSW	16	45,575,409 (GRCm38)	missense	probably benign	0.42
R4957:Slc9c1	UTSW	16	45,544,831 (GRCm38)	missense	probably benign	0.45
R4989:Slc9c1	UTSW	16	45,593,437 (GRCm38)	missense	probably benign	0.03
R5478:Slc9c1	UTSW	16	45,554,246 (GRCm38)	missense	probably damaging	1.00
R5534:Slc9c1	UTSW	16	45,556,614 (GRCm38)	missense	probably benign	0.00
R5898:Slc9c1	UTSW	16	45,544,760 (GRCm38)	missense	probably damaging	1.00
R5939:Slc9c1	UTSW	16	45,547,668 (GRCm38)	missense	probably benign	0.00
R6110:Slc9c1	UTSW	16	45,575,368 (GRCm38)	missense	probably damaging	1.00
R6115:Slc9c1	UTSW	16	45,555,769 (GRCm38)	missense	probably damaging	1.00
R6277:Slc9c1	UTSW	16	45,606,841 (GRCm38)	utr 3 prime	probably benign
R6286:Slc9c1	UTSW	16	45,577,831 (GRCm38)	missense	probably benign	0.14
R7268:Slc9c1	UTSW	16	45,550,116 (GRCm38)	missense	probably damaging	1.00
R7272:Slc9c1	UTSW	16	45,581,515 (GRCm38)	missense	possibly damaging	0.89
R7431:Slc9c1	UTSW	16	45,593,484 (GRCm38)	missense	probably damaging	1.00
R7573:Slc9c1	UTSW	16	45,577,893 (GRCm38)	missense	probably benign	0.00
R7881:Slc9c1	UTSW	16	45,582,969 (GRCm38)	missense	probably benign	0.00
R8207:Slc9c1	UTSW	16	45,539,713 (GRCm38)	missense	possibly damaging	0.65
R8289:Slc9c1	UTSW	16	45,582,981 (GRCm38)	missense	probably benign	0.09
R8302:Slc9c1	UTSW	16	45,547,695 (GRCm38)	missense	probably benign
R8328:Slc9c1	UTSW	16	45,577,864 (GRCm38)	missense	probably damaging	0.97
R8421:Slc9c1	UTSW	16	45,593,371 (GRCm38)	missense	probably damaging	0.97
R8691:Slc9c1	UTSW	16	45,606,819 (GRCm38)	missense	probably benign	0.00
R8712:Slc9c1	UTSW	16	45,560,283 (GRCm38)	missense	probably benign	0.00
R9128:Slc9c1	UTSW	16	45,580,127 (GRCm38)	missense	probably benign	0.25
R9191:Slc9c1	UTSW	16	45,599,781 (GRCm38)	missense	possibly damaging	0.57
R9230:Slc9c1	UTSW	16	45,577,912 (GRCm38)	missense	possibly damaging	0.93
R9248:Slc9c1	UTSW	16	45,550,188 (GRCm38)	missense	probably benign	0.01
R9417:Slc9c1	UTSW	16	45,593,485 (GRCm38)	missense	probably benign	0.45
R9519:Slc9c1	UTSW	16	45,575,407 (GRCm38)	missense	probably damaging	1.00
R9570:Slc9c1	UTSW	16	45,560,342 (GRCm38)	missense	probably benign	0.13
R9686:Slc9c1	UTSW	16	45,580,214 (GRCm38)	missense	possibly damaging	0.72
R9695:Slc9c1	UTSW	16	45,547,663 (GRCm38)	missense	probably benign	0.00
R9742:Slc9c1	UTSW	16	45,580,253 (GRCm38)	missense	probably damaging	1.00
V8831:Slc9c1	UTSW	16	45,577,899 (GRCm38)	missense	possibly damaging	0.89
Z1176:Slc9c1	UTSW	16	45,558,238 (GRCm38)	missense	possibly damaging	0.48
Z1177:Slc9c1	UTSW	16	45,573,419 (GRCm38)	frame shift	probably null

Posted On

2016-08-02