Mutagenetix > Incidental Mutation

Incidental Mutation 'R1656:Slc26a7'

189084

Institutional Source

Beutler Lab

Gene Symbol

Slc26a7

Ensembl Gene

ENSMUSG00000040569

Gene Name

solute carrier family 26, member 7

Synonyms

MMRRC Submission

039692-MU

Accession Numbers

Essential gene?

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

Stock #

R1656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14502430-14621805 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14621221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 55 (I55K)

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

possibly damaging
Transcript: ENSMUST00000042221
AA Change: I55K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041789
Gene: ENSMUSG00000040569
AA Change: I55K

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

possibly damaging
Transcript: ENSMUST00000143105
AA Change: I55K

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122870
Gene: ENSMUSG00000040569
AA Change: I55K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149633
AA Change: I55K

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116157
Gene: ENSMUSG00000040569
AA Change: I55K

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

Meta Mutation Damage Score

0.0979

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.3%

Validation Efficiency

96% (79/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	T	14: 32,099,901 (GRCm39)	I42N	possibly damaging	Het
Adarb2	T	A	13: 8,253,287 (GRCm39)	S11T	unknown	Het
Adgrg1	C	T	8: 95,738,438 (GRCm39)	Q644*	probably null	Het
Akr1c18	T	G	13: 4,195,252 (GRCm39)	I69L	probably benign	Het
Anxa9	C	T	3: 95,207,884 (GRCm39)	V219I	probably benign	Het
Aqp9	T	C	9: 71,045,385 (GRCm39)	T101A	probably benign	Het
Arhgef1	C	T	7: 24,613,057 (GRCm39)	R251W	probably damaging	Het
Arl13b	T	A	16: 62,627,007 (GRCm39)	E231D	possibly damaging	Het
Atosa	C	T	9: 74,916,241 (GRCm39)	A280V	probably benign	Het
Bcl2l11	C	T	2: 128,000,176 (GRCm39)	A173V	probably benign	Het
Ccni	A	T	5: 93,335,933 (GRCm39)		probably null	Het
Cdh18	A	G	15: 23,474,485 (GRCm39)	E785G	probably benign	Het
Cdk4	A	G	10: 126,900,849 (GRCm39)	Y167C	probably benign	Het
Clip1	A	C	5: 123,768,466 (GRCm39)	V757G	possibly damaging	Het
Ctsc	T	C	7: 87,930,616 (GRCm39)	V65A	possibly damaging	Het
Cuedc2	G	A	19: 46,320,427 (GRCm39)	S48L	probably damaging	Het
Cyp39a1	T	A	17: 43,978,510 (GRCm39)	M4K	possibly damaging	Het
Dgcr8	T	C	16: 18,074,577 (GRCm39)	S733G	probably benign	Het
Dnhd1	T	C	7: 105,363,488 (GRCm39)	S4017P	probably damaging	Het
Ehbp1	A	G	11: 22,096,694 (GRCm39)	I255T	probably benign	Het
Fam83e	T	C	7: 45,371,687 (GRCm39)	V28A	probably benign	Het
Fanci	A	G	7: 79,054,936 (GRCm39)		probably benign	Het
Fat1	C	T	8: 45,478,567 (GRCm39)	Q2538*	probably null	Het
Fshr	A	G	17: 89,508,009 (GRCm39)	F11S	unknown	Het
Gab1	G	T	8: 81,515,388 (GRCm39)	P310Q	probably damaging	Het
Galnt18	A	G	7: 111,215,699 (GRCm39)		probably benign	Het
Gm28042	C	A	2: 119,869,370 (GRCm39)	P355Q	probably damaging	Het
H2-DMa	A	G	17: 34,357,116 (GRCm39)	T205A	possibly damaging	Het
Hnf4g	A	T	3: 3,718,011 (GRCm39)	D420V	probably benign	Het
Ift70b	T	C	2: 75,767,760 (GRCm39)	K331R	probably benign	Het
Il1b	A	G	2: 129,207,989 (GRCm39)	V164A	probably damaging	Het
Irf4	C	A	13: 30,941,485 (GRCm39)	H279Q	probably benign	Het
Loxhd1	A	G	18: 77,409,364 (GRCm39)	T203A	possibly damaging	Het
Lsamp	C	T	16: 41,775,682 (GRCm39)	P178S	probably damaging	Het
Mcm6	T	C	1: 128,277,155 (GRCm39)	S223G	possibly damaging	Het
Misp	G	T	10: 79,661,777 (GRCm39)	V65L	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mycbp2	A	T	14: 103,485,194 (GRCm39)	D1102E	probably damaging	Het
Myef2	G	T	2: 124,939,860 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,303,216 (GRCm39)	I1079N	probably damaging	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Obox7	T	C	7: 14,399,346 (GRCm39)	S191P	probably benign	Het
Or11h7	T	C	14: 50,891,465 (GRCm39)	V257A	probably benign	Het
Or13p10	A	G	4: 118,523,385 (GRCm39)	I224V	probably damaging	Het
Or14c40	C	T	7: 86,313,331 (GRCm39)	L154F	probably benign	Het
Or1j11	G	A	2: 36,311,658 (GRCm39)	V83M	probably benign	Het
Or5w14	A	T	2: 87,541,422 (GRCm39)	V276D	possibly damaging	Het
Or7d9	A	G	9: 20,197,873 (GRCm39)	R301G	probably damaging	Het
Phf1	T	C	17: 27,156,333 (GRCm39)	S492P	possibly damaging	Het
Phyh	A	T	2: 4,943,164 (GRCm39)	N337I	probably damaging	Het
Poteg	A	T	8: 27,985,060 (GRCm39)		probably benign	Het
Prag1	G	T	8: 36,571,500 (GRCm39)	K694N	probably damaging	Het
Proser2	C	T	2: 6,107,870 (GRCm39)	E49K	probably damaging	Het
Pskh1	T	C	8: 106,656,389 (GRCm39)	V355A	possibly damaging	Het
Psmc2	T	C	5: 22,004,549 (GRCm39)	V182A	possibly damaging	Het
Rbfox1	A	G	16: 7,124,333 (GRCm39)		probably benign	Het
Slc5a8	G	A	10: 88,761,648 (GRCm39)		probably null	Het
Slitrk3	T	C	3: 72,957,672 (GRCm39)	R367G	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata31	A	G	13: 65,068,953 (GRCm39)	E367G	probably benign	Het
Srrm3	A	T	5: 135,863,892 (GRCm39)		probably null	Het
Ssmem1	T	C	6: 30,517,507 (GRCm39)	S6P	probably damaging	Het
Swap70	A	G	7: 109,821,034 (GRCm39)	D6G	probably benign	Het
Syt1	T	C	10: 108,419,776 (GRCm39)	E295G	probably damaging	Het
Tap2	A	T	17: 34,424,927 (GRCm39)	I192F	possibly damaging	Het
Tgoln1	C	T	6: 72,591,068 (GRCm39)	R348H	probably damaging	Het
Tln2	C	T	9: 67,134,389 (GRCm39)	V1373I	possibly damaging	Het
Tmc2	A	G	2: 130,089,854 (GRCm39)	D613G	possibly damaging	Het
Tmem62	T	A	2: 120,837,483 (GRCm39)	Y597N	probably benign	Het
Trhr2	T	A	8: 123,084,185 (GRCm39)	T272S	probably damaging	Het
Vmn2r92	T	C	17: 18,372,198 (GRCm39)	S3P	probably benign	Het
Wdfy3	A	T	5: 102,089,313 (GRCm39)	I627N	probably damaging	Het
Zfhx4	T	C	3: 5,478,076 (GRCm39)	S3564P	probably damaging	Het
Zfp467	T	G	6: 48,416,013 (GRCm39)	E213A	possibly damaging	Het
Zfp746	T	G	6: 48,041,411 (GRCm39)	K437N	probably damaging	Het
Zfp853	A	G	5: 143,274,840 (GRCm39)		probably benign	Het
Zranb1	T	A	7: 132,551,496 (GRCm39)	V49D	probably benign	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
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
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'- TGCTTAACTCCTAGCCAGGGGTAG -3'
(R):5'- TGTAAACCACAGACGATTTGGAGCC -3'

Sequencing Primer
(F):5'- AGAAACATCTACTCTGCTTATTTTCC -3'
(R):5'- TTAAGCAGTGGTGTAAGAGGCG -3'

Posted On

2014-05-09