Mutagenetix > Incidental Mutation

Incidental Mutation 'R5478:Slc9c1'

434183

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

043039-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R5478 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45554246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 296 (M296L)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably benign
Transcript: ENSMUST00000159945
AA Change: M325L

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: M325L

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 damaging
Transcript: ENSMUST00000162151
AA Change: M296L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Meta Mutation Damage Score

0.1226

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.4%
20x: 91.6%

Validation Efficiency

98% (63/64)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,839,465		probably benign	Het
Adamts2	T	C	11: 50,792,651	V920A	possibly damaging	Het
Alpk1	A	G	3: 127,677,719	V1038A	probably damaging	Het
Amotl1	A	G	9: 14,592,752		probably null	Het
Apba2	T	A	7: 64,695,186	Y41*	probably null	Het
BC048562	G	A	9: 108,445,164		probably benign	Het
Braf	A	G	6: 39,677,574	L86P	possibly damaging	Het
Capn3	A	G	2: 120,464,185		probably null	Het
Carmil1	T	C	13: 24,112,045	D371G	probably damaging	Het
Cdhr4	G	A	9: 107,995,591	V280I	possibly damaging	Het
Cdkl2	T	A	5: 92,039,249	K53*	probably null	Het
Chl1	A	T	6: 103,683,221	E353D	probably damaging	Het
Col4a2	T	A	8: 11,398,697	N72K	probably benign	Het
Comtd1	A	T	14: 21,848,913		probably benign	Het
Ctsm	A	T	13: 61,537,729	S290T	probably benign	Het
Defa35	A	T	8: 21,065,820	Y65F	probably benign	Het
Dock8	T	A	19: 25,079,822	C198S	probably benign	Het
Epha3	A	C	16: 63,583,533	M734R	probably damaging	Het
Fastkd2	T	C	1: 63,739,186	I406T	probably benign	Het
Fshr	C	T	17: 89,001,715	V222I	probably benign	Het
Gm16686	A	T	4: 88,755,477		probably benign	Het
Gm4922	T	C	10: 18,784,137	E279G	probably benign	Het
Gm5709	A	T	3: 59,635,674		noncoding transcript	Het
Grin3a	C	A	4: 49,792,481	M417I	probably benign	Het
Hnf4a	A	T	2: 163,569,006	M408L	probably benign	Het
Hrasls5	A	C	19: 7,614,671		probably benign	Het
Idh1	A	T	1: 65,161,838	M318K	probably benign	Het
Krt222	A	G	11: 99,234,948	S286P	probably damaging	Het
Mmrn2	A	T	14: 34,396,582	T142S	probably benign	Het
Myocd	G	T	11: 65,233,088		probably null	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Olfr183	A	T	16: 59,000,062	I126L	possibly damaging	Het
Olfr598	T	C	7: 103,328,825	L113P	probably damaging	Het
Pcdhgc4	C	T	18: 37,817,322	T597M	probably damaging	Het
Pdrg1	A	G	2: 153,015,232		probably benign	Het
Per2	T	A	1: 91,432,868	I521F	probably benign	Het
Pkhd1	G	A	1: 20,201,156	L3058F	probably damaging	Het
Pnliprp1	A	T	19: 58,734,991		probably null	Het
Ppargc1b	T	A	18: 61,307,568	M744L	probably benign	Het
Prpf18	A	T	2: 4,638,894	N155K	probably benign	Het
Pum1	T	A	4: 130,751,484	N472K	possibly damaging	Het
Reln	A	T	5: 22,004,203	S1126T	probably benign	Het
Rnase11	A	G	14: 51,049,875	L74P	probably damaging	Het
Slc25a23	T	A	17: 57,052,780	I324F	probably damaging	Het
Slc26a10	C	A	10: 127,173,949	R576L	probably benign	Het
Slc4a1	T	A	11: 102,350,314	E921D	probably damaging	Het
Sos1	T	C	17: 80,433,847	D503G	probably damaging	Het
Srpk2	G	A	5: 23,524,183	T486I	possibly damaging	Het
Sult6b1	A	T	17: 78,894,672		probably null	Het
Tbc1d16	T	C	11: 119,155,091	E509G	probably benign	Het
Tktl2	T	C	8: 66,513,398	V536A	probably damaging	Het
Ugt2b36	A	T	5: 87,089,482	V188D	probably damaging	Het
Veph1	T	C	3: 66,255,022	T72A	probably damaging	Het
Vmn2r73	A	T	7: 85,869,788	I542N	probably damaging	Het
Vps13d	G	A	4: 145,167,550	P480S	probably damaging	Het
Zfp319	A	G	8: 95,325,565		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
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
R8691:Slc9c1	UTSW	16	45606819	missense	probably benign	0.00
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'- GATCAGTTTCTCTGCTACATCATG -3'
(R):5'- AACTAACTGTTCAGGCTGAGG -3'

Sequencing Primer
(F):5'- GAATCCTATGTTTACCTGCATTAGTG -3'
(R):5'- CTGTTCAGGCTGAGGTATAAAATC -3'

Posted On

2016-10-06