Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01671:Slc9c1'

103488

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 #

IGL01671

Quality Score

Status

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45560315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 535 (T535S)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: T535S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: T535S

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: T506S

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc7	C	T	5: 106,983,245	P529S	probably damaging	Het
Defb45	T	C	2: 152,593,411	K26E	probably benign	Het
Dnajb8	T	C	6: 88,222,920	L146S	probably benign	Het
Egln1	T	C	8: 124,910,715	D399G	probably benign	Het
Ephb1	A	T	9: 101,996,787	C563S	probably damaging	Het
Gad2	T	A	2: 22,623,699	Y49*	probably null	Het
Gga2	A	G	7: 121,994,856	S470P	probably benign	Het
Gm21276	G	T	7: 38,764,727		noncoding transcript	Het
Gm3115	G	A	14: 4,084,189	C9Y	probably benign	Het
H2-M1	T	C	17: 36,670,438	E235G	probably damaging	Het
Hfe2	T	C	3: 96,528,491	V355A	probably damaging	Het
Hsp90b1	C	T	10: 86,704,325	G41S	probably benign	Het
Mccc1	T	C	3: 35,964,460	D575G	probably benign	Het
Metap2	T	C	10: 93,871,478		probably benign	Het
Myh7	T	C	14: 54,972,924	T1775A	probably damaging	Het
Olfr1469	T	A	19: 13,410,891	F107L	probably benign	Het
Olfr170	A	G	16: 19,605,921	I249T	probably benign	Het
Olfr935	A	G	9: 38,994,853	V194A	probably benign	Het
Pak7	T	C	2: 136,116,373	D265G	possibly damaging	Het
Pex1	A	G	5: 3,624,088	I793V	probably benign	Het
Prkdc	A	G	16: 15,667,745	I479V	possibly damaging	Het
Rhcg	A	C	7: 79,598,551	I435S	probably benign	Het
Stab2	T	C	10: 86,969,277	D279G	possibly damaging	Het
Wdr83	T	C	8: 85,075,819		probably benign	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
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
IGL03184:Slc9c1	APN	16	45,547,640 (GRCm38)	missense	probably damaging	1.00
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

2014-01-21