Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Slc9c1'

644220

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, spermNHE, Slc9a10

MMRRC Submission

067727-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R8328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45355672-45427364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45398227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 664 (I664K)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000159945
AA Change: I664K

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: I664K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,866,993 (GRCm39)	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,591,374 (GRCm39)	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215 (GRCm39)	E489K	probably benign	Het
Arhgef28	A	T	13: 98,187,517 (GRCm39)	H259Q	possibly damaging	Het
Atosb	T	C	4: 43,034,751 (GRCm39)	T323A	probably benign	Het
C3	T	C	17: 57,527,973 (GRCm39)	S749G	probably benign	Het
Celsr1	A	G	15: 85,806,445 (GRCm39)	S2338P	probably benign	Het
Ces2a	A	T	8: 105,463,998 (GRCm39)	N210I	probably damaging	Het
Cuzd1	A	T	7: 130,913,345 (GRCm39)	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,236,605 (GRCm39)	H67L	probably benign	Het
Dennd5b	A	G	6: 148,922,115 (GRCm39)	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,837,206 (GRCm39)	L49F	unknown	Het
Dpy19l1	T	A	9: 24,386,686 (GRCm39)	K9*	probably null	Het
Dsc2	T	C	18: 20,165,576 (GRCm39)	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,510,007 (GRCm39)	F6I	probably benign	Het
Hck	C	T	2: 152,970,987 (GRCm39)	A83V	probably damaging	Het
Hdc	T	C	2: 126,443,803 (GRCm39)	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,728,116 (GRCm39)	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,926,123 (GRCm39)	V88M	probably damaging	Het
Kremen2	A	G	17: 23,961,745 (GRCm39)	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,285,641 (GRCm39)	I622N	probably damaging	Het
Megf8	A	G	7: 25,046,917 (GRCm39)	N1600S	probably benign	Het
Mical3	A	G	6: 120,912,138 (GRCm39)	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323 (GRCm39)	Y26N	probably damaging	Het
Nrl	T	C	14: 55,758,163 (GRCm39)	E188G	probably damaging	Het
Or4d1	A	G	11: 87,804,985 (GRCm39)	M249T	possibly damaging	Het
Or9e1	T	A	11: 58,732,460 (GRCm39)	D173E	probably benign	Het
Polr1a	G	A	6: 71,897,718 (GRCm39)	E238K	probably benign	Het
Pramel26	A	G	4: 143,537,380 (GRCm39)	L317P	probably damaging	Het
Prr5	G	C	15: 84,587,387 (GRCm39)	*388S	probably null	Het
Rptor	A	G	11: 119,783,473 (GRCm39)	T1156A	probably benign	Het
Stn1	C	A	19: 47,505,498 (GRCm39)	R152L	probably damaging	Het
Syde2	T	C	3: 145,721,496 (GRCm39)	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,489,487 (GRCm39)	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,990,643 (GRCm39)	V16L	probably benign	Het
Wdr19	A	G	5: 65,382,638 (GRCm39)	E454G	probably damaging	Het
Zan	C	T	5: 137,392,726 (GRCm39)	E4590K	unknown	Het
Zfp579	T	G	7: 4,997,866 (GRCm39)	H15P	unknown	Het
Zfp628	A	G	7: 4,922,813 (GRCm39)	N345S	probably benign	Het
Zfp944	T	A	17: 22,558,705 (GRCm39)	K181*	probably null	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Slc9c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc9c1	APN	16	45,393,752 (GRCm39)	missense	possibly damaging	0.93
IGL00510:Slc9c1	APN	16	45,360,002 (GRCm39)	missense	probably benign	0.00
IGL00949:Slc9c1	APN	16	45,413,721 (GRCm39)	missense	probably benign
IGL01287:Slc9c1	APN	16	45,404,811 (GRCm39)	nonsense	probably null
IGL01536:Slc9c1	APN	16	45,409,992 (GRCm39)	critical splice donor site	probably null
IGL01655:Slc9c1	APN	16	45,403,335 (GRCm39)	missense	probably benign
IGL01671:Slc9c1	APN	16	45,380,678 (GRCm39)	missense	probably benign
IGL01720:Slc9c1	APN	16	45,376,132 (GRCm39)	missense	probably damaging	1.00
IGL01758:Slc9c1	APN	16	45,361,824 (GRCm39)	missense	probably damaging	1.00
IGL02031:Slc9c1	APN	16	45,419,833 (GRCm39)	missense	probably benign	0.00
IGL02321:Slc9c1	APN	16	45,376,977 (GRCm39)	missense	probably benign	0.02
IGL02472:Slc9c1	APN	16	45,400,505 (GRCm39)	missense	probably benign	0.10
IGL02516:Slc9c1	APN	16	45,398,238 (GRCm39)	missense	probably damaging	0.96
IGL02732:Slc9c1	APN	16	45,370,548 (GRCm39)	missense	possibly damaging	0.78
IGL02741:Slc9c1	APN	16	45,401,961 (GRCm39)	missense	possibly damaging	0.48
IGL02795:Slc9c1	APN	16	45,395,782 (GRCm39)	missense	probably benign	0.06
IGL03032:Slc9c1	APN	16	45,363,624 (GRCm39)	splice site	probably benign
IGL03062:Slc9c1	APN	16	45,420,121 (GRCm39)	missense	probably benign	0.20
IGL03184:Slc9c1	APN	16	45,368,003 (GRCm39)	missense	probably damaging	1.00
IGL03351:Slc9c1	APN	16	45,363,531 (GRCm39)	missense	probably benign	0.01
P0041:Slc9c1	UTSW	16	45,370,524 (GRCm39)	missense	possibly damaging	0.65
R0052:Slc9c1	UTSW	16	45,427,219 (GRCm39)	utr 3 prime	probably benign
R0107:Slc9c1	UTSW	16	45,395,783 (GRCm39)	missense	probably benign	0.00
R0255:Slc9c1	UTSW	16	45,374,663 (GRCm39)	missense	probably benign	0.25
R0316:Slc9c1	UTSW	16	45,400,595 (GRCm39)	missense	possibly damaging	0.72
R0437:Slc9c1	UTSW	16	45,420,250 (GRCm39)	splice site	probably benign
R0611:Slc9c1	UTSW	16	45,401,965 (GRCm39)	missense	possibly damaging	0.83
R0624:Slc9c1	UTSW	16	45,393,719 (GRCm39)	missense	probably benign	0.00
R0630:Slc9c1	UTSW	16	45,363,483 (GRCm39)	splice site	probably benign
R1106:Slc9c1	UTSW	16	45,376,170 (GRCm39)	missense	possibly damaging	0.66
R1396:Slc9c1	UTSW	16	45,393,710 (GRCm39)	missense	probably benign	0.43
R1727:Slc9c1	UTSW	16	45,422,324 (GRCm39)	missense	probably benign	0.27
R1732:Slc9c1	UTSW	16	45,373,291 (GRCm39)	missense	probably benign	0.21
R1754:Slc9c1	UTSW	16	45,409,872 (GRCm39)	missense	probably benign	0.11
R1799:Slc9c1	UTSW	16	45,374,652 (GRCm39)	missense	probably damaging	1.00
R1802:Slc9c1	UTSW	16	45,378,644 (GRCm39)	missense	probably benign
R1813:Slc9c1	UTSW	16	45,393,710 (GRCm39)	missense	probably benign	0.43
R1972:Slc9c1	UTSW	16	45,413,835 (GRCm39)	missense	possibly damaging	0.89
R1985:Slc9c1	UTSW	16	45,370,469 (GRCm39)	missense	probably benign	0.01
R1995:Slc9c1	UTSW	16	45,374,618 (GRCm39)	missense	probably damaging	0.99
R2045:Slc9c1	UTSW	16	45,400,613 (GRCm39)	missense	probably damaging	1.00
R2146:Slc9c1	UTSW	16	45,413,827 (GRCm39)	missense	probably benign	0.19
R2511:Slc9c1	UTSW	16	45,365,099 (GRCm39)	missense	possibly damaging	0.79
R3716:Slc9c1	UTSW	16	45,400,582 (GRCm39)	missense	probably benign
R3765:Slc9c1	UTSW	16	45,411,244 (GRCm39)	missense	possibly damaging	0.89
R3936:Slc9c1	UTSW	16	45,427,193 (GRCm39)	utr 3 prime	probably benign
R4051:Slc9c1	UTSW	16	45,363,593 (GRCm39)	missense	probably damaging	1.00
R4302:Slc9c1	UTSW	16	45,365,154 (GRCm39)	missense	probably benign	0.35
R4433:Slc9c1	UTSW	16	45,419,829 (GRCm39)	missense	possibly damaging	0.93
R4651:Slc9c1	UTSW	16	45,367,756 (GRCm39)	makesense	probably null
R4928:Slc9c1	UTSW	16	45,395,772 (GRCm39)	missense	probably benign	0.42
R4957:Slc9c1	UTSW	16	45,365,194 (GRCm39)	missense	probably benign	0.45
R4989:Slc9c1	UTSW	16	45,413,800 (GRCm39)	missense	probably benign	0.03
R5478:Slc9c1	UTSW	16	45,374,609 (GRCm39)	missense	probably damaging	1.00
R5534:Slc9c1	UTSW	16	45,376,977 (GRCm39)	missense	probably benign	0.00
R5898:Slc9c1	UTSW	16	45,365,123 (GRCm39)	missense	probably damaging	1.00
R5939:Slc9c1	UTSW	16	45,368,031 (GRCm39)	missense	probably benign	0.00
R6110:Slc9c1	UTSW	16	45,395,731 (GRCm39)	missense	probably damaging	1.00
R6115:Slc9c1	UTSW	16	45,376,132 (GRCm39)	missense	probably damaging	1.00
R6277:Slc9c1	UTSW	16	45,427,204 (GRCm39)	utr 3 prime	probably benign
R6286:Slc9c1	UTSW	16	45,398,194 (GRCm39)	missense	probably benign	0.14
R7268:Slc9c1	UTSW	16	45,370,479 (GRCm39)	missense	probably damaging	1.00
R7272:Slc9c1	UTSW	16	45,401,878 (GRCm39)	missense	possibly damaging	0.89
R7431:Slc9c1	UTSW	16	45,413,847 (GRCm39)	missense	probably damaging	1.00
R7573:Slc9c1	UTSW	16	45,398,256 (GRCm39)	missense	probably benign	0.00
R7881:Slc9c1	UTSW	16	45,403,332 (GRCm39)	missense	probably benign	0.00
R8207:Slc9c1	UTSW	16	45,360,076 (GRCm39)	missense	possibly damaging	0.65
R8289:Slc9c1	UTSW	16	45,403,344 (GRCm39)	missense	probably benign	0.09
R8302:Slc9c1	UTSW	16	45,368,058 (GRCm39)	missense	probably benign
R8421:Slc9c1	UTSW	16	45,413,734 (GRCm39)	missense	probably damaging	0.97
R8691:Slc9c1	UTSW	16	45,427,182 (GRCm39)	missense	probably benign	0.00
R8712:Slc9c1	UTSW	16	45,380,646 (GRCm39)	missense	probably benign	0.00
R9128:Slc9c1	UTSW	16	45,400,490 (GRCm39)	missense	probably benign	0.25
R9191:Slc9c1	UTSW	16	45,420,144 (GRCm39)	missense	possibly damaging	0.57
R9230:Slc9c1	UTSW	16	45,398,275 (GRCm39)	missense	possibly damaging	0.93
R9248:Slc9c1	UTSW	16	45,370,551 (GRCm39)	missense	probably benign	0.01
R9417:Slc9c1	UTSW	16	45,413,848 (GRCm39)	missense	probably benign	0.45
R9519:Slc9c1	UTSW	16	45,395,770 (GRCm39)	missense	probably damaging	1.00
R9570:Slc9c1	UTSW	16	45,380,705 (GRCm39)	missense	probably benign	0.13
R9686:Slc9c1	UTSW	16	45,400,577 (GRCm39)	missense	possibly damaging	0.72
R9695:Slc9c1	UTSW	16	45,368,026 (GRCm39)	missense	probably benign	0.00
R9742:Slc9c1	UTSW	16	45,400,616 (GRCm39)	missense	probably damaging	1.00
V8831:Slc9c1	UTSW	16	45,398,262 (GRCm39)	missense	possibly damaging	0.89
Z1176:Slc9c1	UTSW	16	45,378,601 (GRCm39)	missense	possibly damaging	0.48
Z1177:Slc9c1	UTSW	16	45,393,782 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGGCTCCAGTTAAGTAGGAATAG -3'
(R):5'- GGTATGTCTGAAGAAAGTGTGC -3'

Sequencing Primer
(F):5'- GCTCCAGTTAAGTAGGAATAGAATTG -3'
(R):5'- TGTCTGAAGAAAGTGTGCTTTAC -3'

Posted On

2020-09-02