Mutagenetix > Incidental Mutation

Incidental Mutation 'R9013:Slc26a7'

685742

Institutional Source

Beutler Lab

Gene Symbol

Slc26a7

Ensembl Gene

ENSMUSG00000040569

Gene Name

solute carrier family 26, member 7

Synonyms

MMRRC Submission

068843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R9013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

14502430-14621805 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14506514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 612 (S612T)

Ref Sequence

ENSEMBL: ENSMUSP00000041789 (fasta)

Gene Model

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

AlphaFold

Q8R2Z3

Predicted Effect

probably damaging
Transcript: ENSMUST00000042221
AA Change: S612T

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

SMART Domains

Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: S612T

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

Meta Mutation Damage Score

0.0927

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	G	T	14: 70,394,176 (GRCm39)	L200I	probably damaging	Het
Afap1	G	A	5: 36,133,932 (GRCm39)	D456N	possibly damaging	Het
Afm	A	T	5: 90,671,594 (GRCm39)	D92V	probably damaging	Het
Ahi1	T	C	10: 20,883,658 (GRCm39)	I841T	probably benign	Het
Asb1	T	C	1: 91,480,163 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,348,070 (GRCm39)	I507F	probably damaging	Het
Astn2	A	G	4: 65,910,584 (GRCm39)	M468T	probably benign	Het
C030006K11Rik	T	C	15: 76,608,004 (GRCm39)	S5G	probably benign	Het
C9	A	T	15: 6,516,193 (GRCm39)	D332V	probably damaging	Het
Cacna1c	A	T	6: 118,719,266 (GRCm39)	S423T	probably damaging	Het
Cbx8	T	C	11: 118,929,649 (GRCm39)	I315V	possibly damaging	Het
Ccdc50	T	A	16: 27,228,106 (GRCm39)	I91N	probably damaging	Het
Col4a1	T	A	8: 11,272,270 (GRCm39)	I707L	probably benign	Het
Cyc1	T	C	15: 76,229,019 (GRCm39)	V154A	possibly damaging	Het
Cyp4f40	A	T	17: 32,890,173 (GRCm39)	H281L	probably benign	Het
D130052B06Rik	T	G	11: 33,573,491 (GRCm39)	C74W	unknown	Het
Dap	G	A	15: 31,273,344 (GRCm39)	G66D	probably damaging	Het
Dclk3	A	T	9: 111,297,566 (GRCm39)	H370L	probably benign	Het
Dgka	C	A	10: 128,566,071 (GRCm39)	E360*	probably null	Het
Dst	A	G	1: 34,217,165 (GRCm39)	I1202V	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gpx2	A	G	12: 76,842,118 (GRCm39)	L11P	probably damaging	Het
Greb1	A	G	12: 16,789,970 (GRCm39)	L26S	probably damaging	Het
Gtpbp2	A	G	17: 46,475,740 (GRCm39)	K163R	probably benign	Het
Hsd3b1	A	T	3: 98,759,977 (GRCm39)	L338Q	probably damaging	Het
Il15ra	A	G	2: 11,732,576 (GRCm39)	S67G	probably benign	Het
Kcnc2	C	T	10: 112,107,723 (GRCm39)	A38V	probably damaging	Het
Kif19b	A	T	5: 140,449,368 (GRCm39)	Y180F	probably damaging	Het
Klk1b16	A	G	7: 43,790,332 (GRCm39)	D169G	probably benign	Het
Kmt2a	T	C	9: 44,761,208 (GRCm39)	K214E	probably damaging	Het
Lcor	T	A	19: 41,573,189 (GRCm39)	V648D	probably damaging	Het
Lrriq1	C	T	10: 103,050,931 (GRCm39)	G607D	probably damaging	Het
Lysmd3	T	A	13: 81,817,580 (GRCm39)	S186T	probably damaging	Het
Meis1	G	T	11: 18,966,354 (GRCm39)	D6E	probably benign	Het
Mfsd4b2	T	G	10: 39,798,062 (GRCm39)	T98P	probably benign	Het
Muc16	T	A	9: 18,424,069 (GRCm39)	E8193V	possibly damaging	Het
Nr1i3	A	G	1: 171,042,026 (GRCm39)	T37A	probably damaging	Het
Nr5a2	A	T	1: 136,872,745 (GRCm39)	D112E	probably damaging	Het
Oas1c	A	G	5: 120,943,497 (GRCm39)	I214T	probably damaging	Het
Omp	A	G	7: 97,794,552 (GRCm39)	M25T	probably benign	Het
Or12d17	G	A	17: 37,777,441 (GRCm39)	V115M	probably benign	Het
Or12j4	A	T	7: 140,046,179 (GRCm39)	R22W	probably benign	Het
Or13c9	C	A	4: 52,935,900 (GRCm39)	A128S	probably benign	Het
Or5p58	A	G	7: 107,694,471 (GRCm39)	I102T	probably benign	Het
Or6c210	T	C	10: 129,495,702 (GRCm39)	F9S	probably damaging	Het
Or7g12	A	T	9: 18,899,874 (GRCm39)	I197F	possibly damaging	Het
Paf1	A	G	7: 28,098,133 (GRCm39)	E381G	unknown	Het
Pcdhga8	A	G	18: 37,858,997 (GRCm39)	T18A	probably benign	Het
Pclo	T	C	5: 14,727,627 (GRCm39)	S2162P	unknown	Het
Psg25	T	C	7: 18,258,690 (GRCm39)	I329V	probably benign	Het
Ptov1	A	G	7: 44,514,985 (GRCm39)	S209P	possibly damaging	Het
Ralgapb	A	G	2: 158,279,060 (GRCm39)	K397E	probably damaging	Het
Ryr2	T	A	13: 11,618,618 (GRCm39)	T3866S	probably damaging	Het
Sdccag8	G	A	1: 176,652,371 (GRCm39)	V41I	probably benign	Het
Sdf2l1	T	A	16: 16,948,630 (GRCm39)	D136V	possibly damaging	Het
Snf8	T	C	11: 95,930,126 (GRCm39)	F43L	probably benign	Het
Snta1	A	T	2: 154,245,809 (GRCm39)	M104K	probably damaging	Het
Sox2	T	A	3: 34,704,746 (GRCm39)	M61K	probably damaging	Het
Spata31e3	T	C	13: 50,401,588 (GRCm39)	H246R	possibly damaging	Het
Spats2	T	A	15: 99,097,128 (GRCm39)	D293E	probably damaging	Het
Spta1	A	G	1: 174,050,174 (GRCm39)	D1738G	probably damaging	Het
Sqstm1	A	T	11: 50,098,684 (GRCm39)	Y89N	probably damaging	Het
Stat4	T	A	1: 52,050,957 (GRCm39)	N5K	probably benign	Het
Syne4	A	G	7: 30,017,418 (GRCm39)	H294R	probably damaging	Het
Tbc1d7	A	C	13: 43,322,310 (GRCm39)	F45V	probably damaging	Het
Tekt3	T	A	11: 62,974,684 (GRCm39)	N334K	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,620 (GRCm39)	H266R	possibly damaging	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Trip11	A	G	12: 101,851,377 (GRCm39)	S896P	probably damaging	Het
Tubb6	T	C	18: 67,526,046 (GRCm39)	V66A	possibly damaging	Het
Tyk2	A	G	9: 21,016,403 (GRCm39)	L1189P	probably damaging	Het
Usp34	T	G	11: 23,320,302 (GRCm39)	V911G		Het
Wdr53	C	T	16: 32,075,413 (GRCm39)	A206V	probably damaging	Het
Xrn1	A	G	9: 95,920,981 (GRCm39)	E1364G	probably benign	Het
Ywhag	T	C	5: 135,940,217 (GRCm39)	M126V	probably damaging	Het
Zfp383	C	T	7: 29,614,717 (GRCm39)	P324L	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
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
R9563:Slc26a7	UTSW	4	14,519,496 (GRCm39)	missense	probably benign	0.03
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'- CCCCTTAGAGATCAGTGAGAAGAG -3'
(R):5'- AGCCTGGTTCTTCCCTCAAG -3'

Sequencing Primer
(F):5'- CTTGTTCCCTAACTTAGCCAA -3'
(R):5'- GCAGCACTAACCATGTGTCTG -3'

Posted On

2021-10-11