Mutagenetix > Incidental Mutation

Incidental Mutation 'R8691:Slc9c1'

668397

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R8691 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45606819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1162 (N1162K)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000159945] [ENSMUST00000161347]

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000023339

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: N1162K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: N1162K

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: ENSMUST00000161347

Predicted Effect

probably benign
Transcript: ENSMUST00000162151

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	T	5: 30,105,289	A24E	unknown	Het
9530053A07Rik	A	T	7: 28,153,839	E1517V	possibly damaging	Het
Acap1	A	G	11: 69,890,177	L117P	probably damaging	Het
Actl6b	G	A	5: 137,567,323	G394S	probably damaging	Het
Actr3b	G	T	5: 25,825,204	V177F	possibly damaging	Het
Adamts6	A	G	13: 104,314,331	T341A	probably benign	Het
Agbl4	G	T	4: 111,662,959	V474F	probably benign	Het
Bach1	T	C	16: 87,719,629	S353P	probably benign	Het
C1qtnf9	G	A	14: 60,779,692	D224N	probably damaging	Het
Camkmt	A	T	17: 85,113,832	N121Y	probably damaging	Het
Card6	A	T	15: 5,099,596	Y773N	possibly damaging	Het
Cbfa2t2	C	A	2: 154,500,483	P40T	possibly damaging	Het
Colec10	A	C	15: 54,435,024	E60D	probably benign	Het
Cspg4	T	C	9: 56,892,996	V1647A	probably benign	Het
Cyp2d34	A	G	15: 82,618,270	F222L	probably benign	Het
Dennd1b	A	T	1: 139,042,036	I97F	possibly damaging	Het
Deptor	A	C	15: 55,220,200	D388A	possibly damaging	Het
Dhx40	T	C	11: 86,799,593	K201E	possibly damaging	Het
Diexf	T	C	1: 193,113,802	E673G	probably benign	Het
Dnah6	G	A	6: 73,168,867	R854C	probably damaging	Het
Dock9	T	C	14: 121,640,105	I409V	possibly damaging	Het
Esp31	G	T	17: 38,644,701	L78F	possibly damaging	Het
Fam214a	A	T	9: 75,010,053	T652S	probably benign	Het
Fam98c	A	T	7: 29,153,464	V48E	probably damaging	Het
Fgfr1	A	T	8: 25,562,237	D193V	possibly damaging	Het
Furin	C	T	7: 80,392,027		probably benign	Het
Gm17078	A	T	14: 51,611,236	F15I	probably damaging	Het
Gm6803	T	G	12: 88,018,508	K88N	probably damaging	Het
Grid2	G	T	6: 63,503,337	R45L	probably damaging	Het
Hecw2	A	G	1: 53,865,064	V1175A	probably benign	Het
Hspa1b	T	C	17: 34,957,096	I638V	possibly damaging	Het
Ighv6-7	A	G	12: 114,455,684	V100A	probably benign	Het
Itch	G	T	2: 155,210,558	E693*	probably null	Het
Ivl	G	A	3: 92,571,516	S414L	unknown	Het
Kif5b	T	A	18: 6,225,787	N160I	probably benign	Het
Klhl5	A	G	5: 65,149,538		probably benign	Het
Lpin1	C	T	12: 16,573,659		probably benign	Het
Malsu1	C	A	6: 49,075,237	H130Q	probably benign	Het
Naip2	A	C	13: 100,161,168	L787V	probably damaging	Het
Nynrin	C	T	14: 55,872,649	R1738W	probably damaging	Het
Olfr1508	A	T	14: 52,463,901	I36N	possibly damaging	Het
Olfr557	C	T	7: 102,698,570	Q111*	probably null	Het
Olfr743	A	G	14: 50,533,453	T14A	probably benign	Het
Olfr872	T	A	9: 20,260,451	S204T	probably benign	Het
Pclo	A	G	5: 14,521,692	T364A	unknown	Het
Phlda2	A	C	7: 143,502,469	S8A	probably benign	Het
Pou3f1	G	A	4: 124,657,756	G17E	unknown	Het
Ppfibp2	A	G	7: 107,747,578	D899G	probably damaging	Het
Pskh1	T	C	8: 105,913,201	V171A	probably damaging	Het
Rictor	A	G	15: 6,787,032	T1262A	probably damaging	Het
Rnf41	T	C	10: 128,438,208	V243A	probably benign	Het
Spef2	A	T	15: 9,601,919	L1419*	probably null	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tnc	A	G	4: 63,962,076	C1954R	probably damaging	Het
Ttll11	T	A	2: 35,784,149	I622F	probably damaging	Het
Vmn2r104	A	G	17: 20,041,848	I340T	probably damaging	Het
Vmn2r110	G	T	17: 20,583,142	D390E	probably benign	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
R1732:Slc9c1	UTSW	16	45552928	missense	probably benign	0.21
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
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'- CTCTGTGTCAGGTCCCACAC -3'
(R):5'- ATAACATCATTTGGAGAGTTGGTTG -3'

Sequencing Primer
(F):5'- CTGTTGTTGCGACAGACTACAAC -3'
(R):5'- GGTTAGTGTGAGATGCTTTAATTCAC -3'

Posted On

2021-04-30