Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Slc26a7'

721190

Institutional Source

Beutler Lab

Gene Symbol

Slc26a7

Ensembl Gene

ENSMUSG00000040569

Gene Name

solute carrier family 26, member 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14502430-14621805 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14519496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 508 (N508S)

Ref Sequence

ENSEMBL: ENSMUSP00000041789 (fasta)

Gene Model

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

AlphaFold

Q8R2Z3

Predicted Effect

probably benign
Transcript: ENSMUST00000042221
AA Change: N508S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: N508S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,645,009 (GRCm39)	D953E	probably damaging	Het
Acod1	A	C	14: 103,287,109 (GRCm39)	Y80S	probably damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Akna	A	G	4: 63,312,944 (GRCm39)	V393A	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Amz1	T	A	5: 140,738,133 (GRCm39)	D464E	probably damaging	Het
Anapc1	G	A	2: 128,505,980 (GRCm39)	Q619*	probably null	Het
Arfgef3	C	T	10: 18,522,275 (GRCm39)	G584R	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atr	G	C	9: 95,802,833 (GRCm39)	V1832L	probably damaging	Het
Bsn	T	C	9: 107,984,616 (GRCm39)	D374G		Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,863,758 (GRCm39)	S562P	probably benign	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,265,762 (GRCm39)	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Col6a6	C	A	9: 105,572,952 (GRCm39)	G2185C	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Copb1	A	G	7: 113,836,034 (GRCm39)	I449T	possibly damaging	Het
Cplane1	T	G	15: 8,216,563 (GRCm39)	L594V	probably benign	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,382 (GRCm39)	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,467 (GRCm39)	L738*	probably null	Het
Cul9	T	A	17: 46,820,897 (GRCm39)	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,151,707 (GRCm39)	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Daam1	A	G	12: 71,992,251 (GRCm39)	E322G	unknown	Het
Dab2ip	T	A	2: 35,609,915 (GRCm39)	L710*	probably null	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dph1	T	C	11: 75,076,825 (GRCm39)	T60A	possibly damaging	Het
Eme1	T	C	11: 94,541,339 (GRCm39)	D161G	probably benign	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,588,071 (GRCm39)	I568T	probably damaging	Het
F3	T	A	3: 121,527,822 (GRCm39)	L85H		Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw14	T	C	9: 109,106,335 (GRCm39)	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Foxr1	T	A	9: 44,352,199 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdpd4	T	C	7: 97,649,369 (GRCm39)	V450A	probably damaging	Het
Greb1	T	C	12: 16,774,824 (GRCm39)	Y191C	probably benign	Het
H3c11	T	C	13: 21,967,221 (GRCm39)	D107G	probably damaging	Het
Haus3	G	A	5: 34,325,300 (GRCm39)	R120W	probably benign	Het
Herc1	G	T	9: 66,294,193 (GRCm39)		probably null	Het
Hyal2	T	C	9: 107,447,844 (GRCm39)	W166R	probably damaging	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Itga7	C	T	10: 128,789,669 (GRCm39)	A1003V	probably damaging	Het
Itga8	T	A	2: 12,165,219 (GRCm39)	I797F	possibly damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,779,737 (GRCm39)	I203N	probably damaging	Het
Kif21b	T	A	1: 136,077,166 (GRCm39)	L396Q	probably damaging	Het
Kng1	T	G	16: 22,879,170 (GRCm39)	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,387,551 (GRCm39)	S288P	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrp1b	T	A	2: 41,185,711 (GRCm39)	I1449F		Het
Lrrk2	T	A	15: 91,634,043 (GRCm39)	I1380K	possibly damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Lyst	T	C	13: 13,812,408 (GRCm39)	L940P	probably benign	Het
Man2a2	T	A	7: 80,006,101 (GRCm39)	M996L	probably benign	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Map4k5	A	G	12: 69,863,167 (GRCm39)	V629A	probably benign	Het
Mapre2	A	G	18: 24,023,981 (GRCm39)	E325G	unknown	Het
Mbnl1	A	G	3: 60,520,715 (GRCm39)	N101S	probably benign	Het
Meltf	T	A	16: 31,703,869 (GRCm39)	C199S	probably damaging	Het
Mmab	T	C	5: 114,574,850 (GRCm39)	E141G	probably benign	Het
Mtcl2	G	A	2: 156,902,182 (GRCm39)	R278C	probably damaging	Het
Mtus2	T	C	5: 148,250,217 (GRCm39)	L1317P		Het
Muc6	T	A	7: 141,217,783 (GRCm39)	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Nek1	A	G	8: 61,577,157 (GRCm39)	E1118G	probably benign	Het
Nrtn	A	G	17: 57,058,416 (GRCm39)	V195A	probably damaging	Het
Nsd3	G	A	8: 26,204,230 (GRCm39)	V420I		Het
Or52e4	T	C	7: 104,706,281 (GRCm39)	L276P	possibly damaging	Het
Or52z13	A	T	7: 103,247,225 (GRCm39)	Q234L	probably benign	Het
Or5ac23	T	C	16: 59,149,765 (GRCm39)	I36V	probably benign	Het
Or5b99	T	A	19: 12,976,983 (GRCm39)	I211N	probably damaging	Het
Or5t9	A	G	2: 86,659,098 (GRCm39)	M1V	probably null	Het
Or6ae1	G	A	7: 139,742,233 (GRCm39)	T210I	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or8b56	A	T	9: 38,739,014 (GRCm39)	H3L	probably benign	Het
Pde10a	G	T	17: 9,020,710 (GRCm39)	A216S	unknown	Het
Phldb2	T	C	16: 45,645,247 (GRCm39)	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,815,502 (GRCm39)	T1920S		Het
Ptgs2	T	A	1: 149,981,419 (GRCm39)	N567K	probably benign	Het
Pwp1	T	A	10: 85,712,370 (GRCm39)	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,754,668 (GRCm39)	E296G	probably null	Het
Rb1cc1	A	G	1: 6,314,339 (GRCm39)	K337R	probably benign	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	T	C	7: 108,637,997 (GRCm39)	E253G	possibly damaging	Het
Rictor	A	T	15: 6,797,562 (GRCm39)	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,811,141 (GRCm39)	V174E	possibly damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rrad	A	G	8: 105,355,324 (GRCm39)	F228S	probably damaging	Het
Scn3a	A	T	2: 65,291,595 (GRCm39)	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,193,729 (GRCm39)	D152G	probably benign	Het
Scn5a	C	A	9: 119,315,803 (GRCm39)	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Shprh	T	A	10: 11,042,235 (GRCm39)	Y739*	probably null	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc7a12	A	G	3: 14,564,360 (GRCm39)	I349V	possibly damaging	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,480,841 (GRCm39)	A231V	unknown	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spmip2	A	T	3: 79,356,616 (GRCm39)	M140L	probably benign	Het
Ssbp1	T	A	6: 40,454,968 (GRCm39)	S142R	probably benign	Het
Stard3	A	G	11: 98,270,797 (GRCm39)		probably null	Het
Strn3	G	T	12: 51,674,300 (GRCm39)	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739 (GRCm39)	T195A	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmed5	A	C	5: 108,280,100 (GRCm39)		probably null	Het
Tmem132a	C	T	19: 10,838,960 (GRCm39)	R494H	probably benign	Het
Tom1	A	G	8: 75,787,177 (GRCm39)	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,239,473 (GRCm39)	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,155,945 (GRCm39)	K105N	possibly damaging	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,276,378 (GRCm39)	N786K	probably benign	Het
Trpc3	A	G	3: 36,705,683 (GRCm39)	M504T	probably benign	Het
Ttc28	A	T	5: 111,371,092 (GRCm39)	M545L	probably benign	Het
Uggt1	A	C	1: 36,204,627 (GRCm39)	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,589,880 (GRCm39)	Q679*	probably null	Het
Wdfy4	T	C	14: 32,692,833 (GRCm39)	I2958V		Het
Zbtb37	C	T	1: 160,847,840 (GRCm39)	S389N	possibly damaging	Het
Zfp235	T	C	7: 23,841,669 (GRCm39)	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,765,732 (GRCm39)	C1420S	probably damaging	Het

Other mutations in Slc26a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Slc26a7	APN	4	14,548,403 (GRCm39)	splice site	probably benign
IGL00943:Slc26a7	APN	4	14,506,477 (GRCm39)	missense	probably benign	0.01
IGL01878:Slc26a7	APN	4	14,519,388 (GRCm39)	splice site	probably null
IGL02698:Slc26a7	APN	4	14,593,867 (GRCm39)	missense	possibly damaging	0.93
IGL03133:Slc26a7	APN	4	14,532,576 (GRCm39)	missense	possibly damaging	0.49
R0200:Slc26a7	UTSW	4	14,621,317 (GRCm39)	missense	probably benign	0.04
R0240:Slc26a7	UTSW	4	14,532,651 (GRCm39)	missense	probably damaging	1.00
R0240:Slc26a7	UTSW	4	14,532,651 (GRCm39)	missense	probably damaging	1.00
R0608:Slc26a7	UTSW	4	14,621,317 (GRCm39)	missense	probably benign	0.04
R0833:Slc26a7	UTSW	4	14,593,873 (GRCm39)	missense	probably damaging	1.00
R1496:Slc26a7	UTSW	4	14,506,489 (GRCm39)	missense	probably benign	0.01
R1592:Slc26a7	UTSW	4	14,552,470 (GRCm39)	missense	probably benign	0.09
R1656:Slc26a7	UTSW	4	14,621,221 (GRCm39)	missense	possibly damaging	0.90
R1758:Slc26a7	UTSW	4	14,548,491 (GRCm39)	missense	possibly damaging	0.58
R1861:Slc26a7	UTSW	4	14,522,873 (GRCm39)	missense	probably benign
R2429:Slc26a7	UTSW	4	14,506,399 (GRCm39)	splice site	probably benign
R2850:Slc26a7	UTSW	4	14,593,806 (GRCm39)	splice site	probably benign
R3442:Slc26a7	UTSW	4	14,565,511 (GRCm39)	missense	probably benign	0.11
R4158:Slc26a7	UTSW	4	14,544,197 (GRCm39)	missense	probably benign	0.38
R4160:Slc26a7	UTSW	4	14,544,197 (GRCm39)	missense	probably benign	0.38
R4721:Slc26a7	UTSW	4	14,510,261 (GRCm39)	splice site	probably null
R4727:Slc26a7	UTSW	4	14,590,477 (GRCm39)	missense	probably damaging	1.00
R4825:Slc26a7	UTSW	4	14,546,309 (GRCm39)	missense	probably benign	0.18
R4992:Slc26a7	UTSW	4	14,565,508 (GRCm39)	missense	probably damaging	1.00
R5024:Slc26a7	UTSW	4	14,532,572 (GRCm39)	missense	possibly damaging	0.91
R5344:Slc26a7	UTSW	4	14,519,402 (GRCm39)	missense	probably benign	0.00
R5373:Slc26a7	UTSW	4	14,546,447 (GRCm39)	missense	probably damaging	0.99
R5540:Slc26a7	UTSW	4	14,506,621 (GRCm39)	missense	probably benign
R6046:Slc26a7	UTSW	4	14,505,471 (GRCm39)	missense	probably benign	0.24
R6320:Slc26a7	UTSW	4	14,524,498 (GRCm39)	missense	probably benign	0.01
R6685:Slc26a7	UTSW	4	14,593,820 (GRCm39)	missense	probably damaging	1.00
R6685:Slc26a7	UTSW	4	14,593,819 (GRCm39)	missense	probably damaging	1.00
R6880:Slc26a7	UTSW	4	14,516,159 (GRCm39)	missense	possibly damaging	0.57
R6958:Slc26a7	UTSW	4	14,506,442 (GRCm39)	missense	probably benign	0.00
R7000:Slc26a7	UTSW	4	14,552,476 (GRCm39)	missense	probably benign
R7090:Slc26a7	UTSW	4	14,565,460 (GRCm39)	nonsense	probably null
R7122:Slc26a7	UTSW	4	14,533,639 (GRCm39)	missense	probably damaging	1.00
R7361:Slc26a7	UTSW	4	14,546,305 (GRCm39)	missense	probably damaging	1.00
R8035:Slc26a7	UTSW	4	14,621,338 (GRCm39)	missense	possibly damaging	0.46
R8252:Slc26a7	UTSW	4	14,621,415 (GRCm39)	start gained	probably benign
R8262:Slc26a7	UTSW	4	14,621,269 (GRCm39)	missense	probably benign	0.01
R8989:Slc26a7	UTSW	4	14,533,642 (GRCm39)	missense	probably damaging	1.00
R9013:Slc26a7	UTSW	4	14,506,514 (GRCm39)	missense	probably damaging	1.00
R9127:Slc26a7	UTSW	4	14,593,873 (GRCm39)	missense	probably damaging	1.00
R9184:Slc26a7	UTSW	4	14,506,630 (GRCm39)	missense	possibly damaging	0.48
R9287:Slc26a7	UTSW	4	14,516,165 (GRCm39)	missense	possibly damaging	0.56
R9377:Slc26a7	UTSW	4	14,516,189 (GRCm39)	missense	probably benign	0.04
R9565:Slc26a7	UTSW	4	14,519,496 (GRCm39)	missense	probably benign	0.03
R9609:Slc26a7	UTSW	4	14,532,636 (GRCm39)	missense	probably damaging	1.00
R9633:Slc26a7	UTSW	4	14,524,540 (GRCm39)	missense	possibly damaging	0.93
R9762:Slc26a7	UTSW	4	14,546,372 (GRCm39)	missense	probably damaging	1.00
R9765:Slc26a7	UTSW	4	14,522,862 (GRCm39)	missense	probably benign	0.00
R9794:Slc26a7	UTSW	4	14,590,416 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AAACTCTGTCGTTGTTTACCTGTGG -3'
(R):5'- CACTTTCTGAAAAGCTGTGGATTG -3'

Sequencing Primer
(F):5'- ATGCCTACCTTGCTGACA -3'
(R):5'- GCAATCCACAACTGAGTGTTATG -3'

Posted On

2022-08-09