Mutagenetix > Incidental Mutation

Incidental Mutation 'R5939:Slc9c1'

462449

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

043243-MU

Accession Numbers

Essential gene?

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

Stock #

R5939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45547668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 207 (I207V)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: I207V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I207V

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: ENSMUST00000162151
AA Change: I178V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 24,914,122 (GRCm38)	F225I	probably damaging	Het
Ager	G	T	17: 34,598,201 (GRCm38)	C38F	probably damaging	Het
Arel1	C	A	12: 84,926,292 (GRCm38)	R577L	probably damaging	Het
Armh1	T	C	4: 117,229,922 (GRCm38)	Y182C	probably damaging	Het
BC005561	T	C	5: 104,519,207 (GRCm38)	Y532H	possibly damaging	Het
Cabp2	G	T	19: 4,086,470 (GRCm38)	C172F	possibly damaging	Het
Cenps	C	A	4: 149,130,201 (GRCm38)		probably benign	Het
D630045J12Rik	A	C	6: 38,194,969 (GRCm38)	S755A	possibly damaging	Het
Duox1	A	T	2: 122,346,351 (GRCm38)	H1451L	probably damaging	Het
Dync2h1	A	G	9: 7,037,801 (GRCm38)	V3359A	probably damaging	Het
Erlin2	T	C	8: 27,036,526 (GRCm38)	F305L	probably benign	Het
Gm10428	A	C	11: 62,753,462 (GRCm38)		probably benign	Het
Gnal	G	A	18: 67,191,385 (GRCm38)	V204M	probably damaging	Het
Intu	T	C	3: 40,692,584 (GRCm38)	V629A	probably damaging	Het
Lrguk	G	T	6: 34,078,753 (GRCm38)	C435F	probably damaging	Het
Man1c1	C	T	4: 134,565,836 (GRCm38)	V543M	probably damaging	Het
Mcm3ap	A	G	10: 76,508,361 (GRCm38)	H1779R	probably benign	Het
Neb	T	C	2: 52,257,594 (GRCm38)	T2776A	probably benign	Het
Nek10	A	T	14: 14,931,290 (GRCm38)	Y754F	possibly damaging	Het
Nr3c1	A	G	18: 39,420,653 (GRCm38)	I664T	probably benign	Het
Nrip1	T	C	16: 76,292,122 (GRCm38)	E849G	probably damaging	Het
Nrros	A	G	16: 32,143,454 (GRCm38)	F546L	probably benign	Het
Olfr1120	A	C	2: 87,357,704 (GRCm38)	I87L	possibly damaging	Het
Olfr1167	T	C	2: 88,149,509 (GRCm38)	Y170C	probably damaging	Het
Pcdhb16	A	G	18: 37,478,064 (GRCm38)	T26A	probably benign	Het
Penk	A	G	4: 4,138,010 (GRCm38)	F45S	probably benign	Het
Ppp2r3a	A	T	9: 101,212,625 (GRCm38)	N166K	probably benign	Het
Psmb1	A	G	17: 15,498,178 (GRCm38)	F29L	probably damaging	Het
Rab23	T	C	1: 33,723,909 (GRCm38)	V20A	probably damaging	Het
Ryr1	C	T	7: 29,116,127 (GRCm38)	A113T	probably damaging	Het
Ryr2	C	T	13: 11,790,332 (GRCm38)	R882K	probably damaging	Het
Slc6a6	A	G	6: 91,754,948 (GRCm38)	N586S	probably benign	Het
Spef2	G	A	15: 9,614,215 (GRCm38)	T1215I	probably benign	Het
Tmc7	C	T	7: 118,545,727 (GRCm38)	A537T	probably benign	Het
Tmem246	T	A	4: 49,586,412 (GRCm38)	Q252L	probably damaging	Het
Tmem70	T	C	1: 16,677,391 (GRCm38)	V243A	probably benign	Het
Top2b	T	C	14: 16,422,786 (GRCm38)	Y1408H	probably damaging	Het
Tpcn1	A	T	5: 120,539,827 (GRCm38)	F642I	probably damaging	Het
Xirp1	T	G	9: 120,018,509 (GRCm38)	D436A	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTTGGGAAGAAAACTGCTAGAC -3'
(R):5'- GTGAGAAAGCATGCTATGTGC -3'

Sequencing Primer
(F):5'- GAAAACTGCTAGACTGAAGAAATCC -3'
(R):5'- TATGTGCAGGTCAAGTCAGCC -3'

Posted On

2017-02-28