Mutagenetix > Incidental Mutation

Incidental Mutation 'R7431:Slc9c1'

576501

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

Essential gene?

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

Stock #

R7431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45535309-45607001 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45593484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 992 (V992F)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000159945
AA Change: V992F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: V992F

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: 99.5%
20x: 98.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,881,837	H10R	probably benign	Het
4931406P16Rik	T	C	7: 34,284,794	I135V	possibly damaging	Het
Abca9	CA	C	11: 110,127,426		probably null	Het
Abcf3	G	T	16: 20,558,789	R510L	probably benign	Het
Abcg4	T	A	9: 44,274,700	I625F	possibly damaging	Het
Adam22	A	T	5: 8,092,818	S806T	probably damaging	Het
Adcy4	T	C	14: 55,772,672	I718V	probably benign	Het
Adgb	A	T	10: 10,391,955		probably null	Het
Aldoart1	T	A	4: 72,851,441	K377*	probably null	Het
Apc2	T	A	10: 80,302,183	V100E	possibly damaging	Het
Asxl3	T	G	18: 22,516,953	D666E	probably damaging	Het
Atg4c	A	T	4: 99,221,395	I200F	possibly damaging	Het
Atp1a4	A	G	1: 172,250,907	F255L	probably benign	Het
Bod1l	A	C	5: 41,813,120		probably null	Het
Cacna2d4	A	T	6: 119,244,276	T250S	probably damaging	Het
Ccdc114	T	G	7: 45,929,246	L81R	probably damaging	Het
Ccng1	G	A	11: 40,753,918	R51W	possibly damaging	Het
Chd6	T	C	2: 161,026,328	E366G	possibly damaging	Het
Clca4b	A	T	3: 144,911,133	S919T	probably benign	Het
Col5a3	T	C	9: 20,770,835	*1740W	probably null	Het
Col6a5	A	T	9: 105,928,269	I1146K	unknown	Het
Cpxm1	T	C	2: 130,394,046	T399A	probably benign	Het
Cpz	T	C	5: 35,511,142	T375A	probably benign	Het
Cyp2b13	T	A	7: 26,061,551	V11D	probably damaging	Het
Cyp39a1	A	G	17: 43,683,015	T189A	probably benign	Het
Desi2	C	T	1: 178,256,441	Q52*	probably null	Het
Dhx15	A	G	5: 52,162,611	V418A	probably damaging	Het
Dnah3	T	A	7: 120,051,744	M978L	probably damaging	Het
Dpagt1	T	A	9: 44,326,087	C17*	probably null	Het
Dph5	A	T	3: 115,892,732	K52N	possibly damaging	Het
Dpp4	G	T	2: 62,352,238	N566K	probably benign	Het
Elavl4	T	C	4: 110,226,633	Y94C	probably damaging	Het
Fat2	G	A	11: 55,309,101	T1049I	probably damaging	Het
Fat4	T	A	3: 39,009,157	Y4421N	possibly damaging	Het
Fcrls	C	A	3: 87,258,926	A181S	probably damaging	Het
Glg1	G	T	8: 111,160,754	N456K	unknown	Het
Gm10228	A	G	16: 89,041,213	S68P	unknown	Het
Golga4	G	A	9: 118,559,731	E1974K	probably damaging	Het
Heatr9	G	T	11: 83,519,268	P49Q	probably damaging	Het
Hmgxb3	A	T	18: 61,147,445	V662D	probably damaging	Het
Hs3st4	T	C	7: 123,983,290	L37P	probably damaging	Het
Ifi205	A	T	1: 174,028,377	M29K	probably benign	Het
Igkv1-35	C	T	6: 70,011,004	V103M	probably damaging	Het
Klf13	T	A	7: 63,891,756	K208*	probably null	Het
Klhl36	A	G	8: 119,870,382	N274S	probably benign	Het
Mosmo	T	A	7: 120,730,650	L165I	probably benign	Het
Mtcl1	G	A	17: 66,342,906	Q1855*	probably null	Het
Muc16	A	G	9: 18,607,993	V208A		Het
Nin	T	G	12: 70,078,223	R108S		Het
Olfr159	T	C	4: 43,770,882	N43S	probably damaging	Het
Polr1a	G	A	6: 71,926,659	V319I	probably benign	Het
Pramel7	A	G	2: 87,489,938	V337A	possibly damaging	Het
Prkar2b	A	T	12: 31,963,151		probably null	Het
R3hdm2	T	A	10: 127,458,147	M170K	probably benign	Het
Rbm26	A	G	14: 105,117,092	I919T	possibly damaging	Het
Rimkla	A	G	4: 119,477,811	M125T	probably benign	Het
Sag	T	A	1: 87,821,337	F153I	possibly damaging	Het
Sbf2	G	T	7: 110,351,750	D1163E	probably damaging	Het
Scgb2b24	T	C	7: 33,739,249	I13V	probably benign	Het
Scin	G	A	12: 40,133,922	H63Y	probably damaging	Het
Sele	A	G	1: 164,051,620	T275A	probably damaging	Het
Slc22a15	T	A	3: 101,897,940	T144S	probably benign	Het
Slc8a1	T	A	17: 81,441,663	K650I	probably benign	Het
Spag16	A	T	1: 69,923,872	T393S	unknown	Het
Taf15	G	A	11: 83,504,953	D495N	unknown	Het
Tas2r144	T	A	6: 42,215,974	I216N	probably damaging	Het
Tbccd1	G	T	16: 22,825,813	P271Q	probably benign	Het
Tcf4	C	A	18: 69,347,178		probably null	Het
Thap4	A	T	1: 93,750,501	S188T	probably benign	Het
Trank1	T	C	9: 111,362,402	V493A	probably benign	Het
Trip11	A	G	12: 101,884,019	V1262A	possibly damaging	Het
Tspan2	T	A	3: 102,749,791	W35R	probably damaging	Het
Usp39	G	T	6: 72,336,268	T313N	possibly damaging	Het
Vmn2r83	T	A	10: 79,491,472	L638Q	probably damaging	Het
Vps29	T	C	5: 122,354,478	V2A	probably benign	Het
Wrap53	A	G	11: 69,578,487	F148L	possibly damaging	Het
Znfx1	T	C	2: 167,055,792	Y404C	probably damaging	Het
Zrsr1	A	G	11: 22,973,580	E118G	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
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'- GGGTGACATAAATTAACCAGCG -3'
(R):5'- TGTGGTAGGCACACTTTTGAAAC -3'

Sequencing Primer
(F):5'- GTGACATAAATTAACCAGCGTATGTG -3'
(R):5'- AGCTAGCCTCTGAATCCAGTGATG -3'

Posted On

2019-10-07