Mutagenetix > Incidental Mutation

Incidental Mutation 'P0041:Slc9c1'

15457

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

038289-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

P0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45355672-45427364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45370524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 255 (M255K)

Ref Sequence

ENSEMBL: ENSMUSP00000124969 (fasta)

Gene Model

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

AlphaFold

Q6UJY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159945
AA Change: M255K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210
AA Change: M255K

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

unknown
Transcript: ENSMUST00000162151
AA Change: M226K

Predicted Effect

probably benign
Transcript: ENSMUST00000162774

Meta Mutation Damage Score

0.8081

Coding Region Coverage

1x: 86.7%
3x: 79.7%
10x: 43.1%
20x: 3.5%

Validation Efficiency

96% (69/72)

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap1	A	G	2: 91,499,738 (GRCm39)	E291G	probably benign	Het
Atg5	A	C	10: 44,165,938 (GRCm39)	E63A	probably benign	Het
Clec4b2	A	G	6: 123,158,253 (GRCm39)	T40A	possibly damaging	Het
Colgalt1	A	G	8: 72,075,434 (GRCm39)	M447V	probably benign	Het
Dnai3	G	A	3: 145,786,997 (GRCm39)	S346F	possibly damaging	Het
Enpep	T	C	3: 129,125,847 (GRCm39)	D95G	possibly damaging	Het
Epha3	C	A	16: 63,433,231 (GRCm39)	E170D	probably damaging	Het
Gm9900	A	T	11: 58,220,409 (GRCm39)	Y63*	probably null	Het
Gtf2i	C	T	5: 134,273,742 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,517,647 (GRCm39)	N343I	probably damaging	Het
Large2	A	G	2: 92,197,599 (GRCm39)		probably benign	Het
Mobp	G	A	9: 119,997,083 (GRCm39)		probably benign	Het
Nek10	A	T	14: 14,861,603 (GRCm38)	H553L	probably benign	Het
Nploc4	A	T	11: 120,309,157 (GRCm39)	D148E	probably damaging	Het
Or1n1	T	C	2: 36,749,473 (GRCm39)	K296E	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,696 (GRCm39)	I406T	probably benign	Het
Synrg	C	T	11: 83,873,137 (GRCm39)		probably benign	Het
Trak2	A	G	1: 58,949,123 (GRCm39)	V559A	probably damaging	Het
Trpm3	A	G	19: 22,875,050 (GRCm39)	D552G	probably benign	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
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
R8328:Slc9c1	UTSW	16	45,398,227 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2012-12-21