Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Slc26a7'

54388

Institutional Source

Beutler Lab

Gene Symbol

Slc26a7

Ensembl Gene

ENSMUSG00000040569

Gene Name

solute carrier family 26, member 7

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0608 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

14502430-14621805 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14621317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 23 (D23G)

Ref Sequence

ENSEMBL: ENSMUSP00000116157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023917] [ENSMUST00000042221] [ENSMUST00000143105] [ENSMUST00000149633]

AlphaFold

Q8R2Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000023917

SMART Domains

Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151

Domain	Start	End	E-Value	Type
LRR	36	58	4.57e0	SMART
LRR	59	81	2.82e0	SMART
LRR	82	105	7.55e-1	SMART
LRR	106	128	7.79e0	SMART
LRR	129	151	1.99e0	SMART
LRR	152	174	5.72e0	SMART
LRR	175	197	3.86e0	SMART
LRR	198	220	8.24e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042221
AA Change: D23G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: D23G

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	47	444	6.9e-95	PFAM
transmembrane domain	445	467	N/A	INTRINSIC
Pfam:STAS	493	637	4.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143105
AA Change: D23G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122870
Gene: ENSMUSG00000040569
AA Change: D23G

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	32	99	7.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149633
AA Change: D23G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116157
Gene: ENSMUSG00000040569
AA Change: D23G

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	32	115	9.9e-28	PFAM
transmembrane domain	145	167	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice deficient for this marker have a reduce arterial pH and reduced serum bicarbonate. Urine is more concentrated and has an elevated pH. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	Het

Other mutations in Slc26a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Slc26a7	APN	4	14548403	splice site	probably benign
IGL00943:Slc26a7	APN	4	14506477	missense	probably benign	0.01
IGL01878:Slc26a7	APN	4	14519388	splice site	probably null
IGL02698:Slc26a7	APN	4	14593867	missense	possibly damaging	0.93
IGL03133:Slc26a7	APN	4	14532576	missense	possibly damaging	0.49
R0200:Slc26a7	UTSW	4	14621317	missense	probably benign	0.04
R0240:Slc26a7	UTSW	4	14532651	missense	probably damaging	1.00
R0240:Slc26a7	UTSW	4	14532651	missense	probably damaging	1.00
R0833:Slc26a7	UTSW	4	14593873	missense	probably damaging	1.00
R1496:Slc26a7	UTSW	4	14506489	missense	probably benign	0.01
R1592:Slc26a7	UTSW	4	14552470	missense	probably benign	0.09
R1656:Slc26a7	UTSW	4	14621221	missense	possibly damaging	0.90
R1758:Slc26a7	UTSW	4	14548491	missense	possibly damaging	0.58
R1861:Slc26a7	UTSW	4	14522873	missense	probably benign
R2429:Slc26a7	UTSW	4	14506399	splice site	probably benign
R2850:Slc26a7	UTSW	4	14593806	splice site	probably benign
R3442:Slc26a7	UTSW	4	14565511	missense	probably benign	0.11
R4158:Slc26a7	UTSW	4	14544197	missense	probably benign	0.38
R4160:Slc26a7	UTSW	4	14544197	missense	probably benign	0.38
R4721:Slc26a7	UTSW	4	14510261	splice site	probably null
R4727:Slc26a7	UTSW	4	14590477	missense	probably damaging	1.00
R4825:Slc26a7	UTSW	4	14546309	missense	probably benign	0.18
R4992:Slc26a7	UTSW	4	14565508	missense	probably damaging	1.00
R5024:Slc26a7	UTSW	4	14532572	missense	possibly damaging	0.91
R5344:Slc26a7	UTSW	4	14519402	missense	probably benign	0.00
R5373:Slc26a7	UTSW	4	14546447	missense	probably damaging	0.99
R5540:Slc26a7	UTSW	4	14506621	missense	probably benign
R6046:Slc26a7	UTSW	4	14505471	missense	probably benign	0.24
R6320:Slc26a7	UTSW	4	14524498	missense	probably benign	0.01
R6685:Slc26a7	UTSW	4	14593819	missense	probably damaging	1.00
R6685:Slc26a7	UTSW	4	14593820	missense	probably damaging	1.00
R6880:Slc26a7	UTSW	4	14516159	missense	possibly damaging	0.57
R6958:Slc26a7	UTSW	4	14506442	missense	probably benign	0.00
R7000:Slc26a7	UTSW	4	14552476	missense	probably benign
R7090:Slc26a7	UTSW	4	14565460	nonsense	probably null
R7122:Slc26a7	UTSW	4	14533639	missense	probably damaging	1.00
R7361:Slc26a7	UTSW	4	14546305	missense	probably damaging	1.00
R8035:Slc26a7	UTSW	4	14621338	missense	possibly damaging	0.46
R8252:Slc26a7	UTSW	4	14621415	start gained	probably benign
R8262:Slc26a7	UTSW	4	14621269	missense	probably benign	0.01
R8989:Slc26a7	UTSW	4	14533642	missense	probably damaging	1.00
R9013:Slc26a7	UTSW	4	14506514	missense	probably damaging	1.00
R9127:Slc26a7	UTSW	4	14593873	missense	probably damaging	1.00
R9184:Slc26a7	UTSW	4	14506630	missense	possibly damaging	0.48
R9287:Slc26a7	UTSW	4	14516165	missense	possibly damaging	0.56
R9377:Slc26a7	UTSW	4	14516189	missense	probably benign	0.04
R9563:Slc26a7	UTSW	4	14519496	missense	probably benign	0.03
R9565:Slc26a7	UTSW	4	14519496	missense	probably benign	0.03
R9609:Slc26a7	UTSW	4	14532636	missense	probably damaging	1.00
R9633:Slc26a7	UTSW	4	14524540	missense	possibly damaging	0.93
R9762:Slc26a7	UTSW	4	14546372	missense	probably damaging	1.00
R9765:Slc26a7	UTSW	4	14522862	missense	probably benign	0.00
R9794:Slc26a7	UTSW	4	14590416	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGAAGCAAAGTGACATCCACTCTGC -3'
(R):5'- AGGGAGCTGTAACTATCTCACCACC -3'

Sequencing Primer
(F):5'- TGCAGAAGACTGTAAACCCAAATG -3'
(R):5'- GAAGTTGACTACTACAGGAGGG -3'

Posted On

2013-07-11