Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Slc26a1'

77625

Institutional Source

Beutler Lab

Gene Symbol

Slc26a1

Ensembl Gene

ENSMUSG00000046959

Gene Name

solute carrier family 26 (sulfate transporter), member 1

Synonyms

Sat1

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.621) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108669878-108675569 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108673523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 167 (T167S)

Ref Sequence

ENSEMBL: ENSMUSP00000131282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051757] [ENSMUST00000071650] [ENSMUST00000112563] [ENSMUST00000119212] [ENSMUST00000119270] [ENSMUST00000132708] [ENSMUST00000136227] [ENSMUST00000139734] [ENSMUST00000140620] [ENSMUST00000163328]

AlphaFold

P58735

Predicted Effect

probably benign
Transcript: ENSMUST00000051757
AA Change: T167S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: T167S

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.9e-31	PFAM
Pfam:Sulfate_transp	200	478	3.1e-84	PFAM
Pfam:STAS	536	686	9.5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071650

SMART Domains

Protein: ENSMUSP00000071577
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	542	1.4e-223	PFAM
SCOP:d1bpv__	546	643	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112563

SMART Domains

Protein: ENSMUSP00000108182
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	542	2.1e-224	PFAM
SCOP:d1bpv__	546	643	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119212

SMART Domains

Protein: ENSMUSP00000113190
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Glyco_hydro_39	48	495	2.4e-193	PFAM
SCOP:d1bpv__	499	596	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119270
AA Change: T183S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: T183S

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	85	498	7.3e-135	PFAM
Pfam:STAS	552	702	1.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132708

SMART Domains

Protein: ENSMUSP00000122837
Gene: ENSMUSG00000004815

Domain	Start	End	E-Value	Type
Blast:C1	26	56	2e-13	BLAST
low complexity region	68	81	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136227
AA Change: T167S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959
AA Change: T167S

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	3.4e-31	PFAM
Pfam:Sulfate_transp	200	416	2.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139734

SMART Domains

Protein: ENSMUSP00000117694
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	199	6.8e-80	PFAM
low complexity region	235	260	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140620

SMART Domains

Protein: ENSMUSP00000119624
Gene: ENSMUSG00000033540

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_39	22	150	3.4e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159464

Predicted Effect

probably benign
Transcript: ENSMUST00000163328
AA Change: T167S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: T167S

Domain	Start	End	E-Value	Type
Pfam:Sulfate_tra_GLY	54	137	4.9e-31	PFAM
Pfam:Sulfate_transp	200	478	3.1e-84	PFAM
Pfam:STAS	536	686	9.5e-29	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene develop kidney stones and have an increased susceptibility to acetaminophen-induced liver damage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069 (GRCm38)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,364,120 (GRCm38)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346 (GRCm38)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,702,243 (GRCm38)	V390M	probably damaging	Het
Alg14	A	G	3: 121,298,610 (GRCm38)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347 (GRCm38)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379 (GRCm38)		probably benign	Het
Arl2	T	G	19: 6,136,022 (GRCm38)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,845,666 (GRCm38)	W2072R	probably benign	Het
Astl	T	C	2: 127,342,419 (GRCm38)	F21L	probably benign	Het
Asxl3	A	G	18: 22,516,040 (GRCm38)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,035,825 (GRCm38)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cbwd1	A	G	19: 24,940,839 (GRCm38)		probably benign	Het
Ccdc144b	A	G	3: 36,020,213 (GRCm38)		probably benign	Het
Ccdc85a	T	A	11: 28,583,296 (GRCm38)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394 (GRCm38)	M336K	probably benign	Het
Cd226	A	C	18: 89,207,020 (GRCm38)		probably benign	Het
Ces1f	A	T	8: 93,270,024 (GRCm38)	S214T	probably damaging	Het
Clip1	T	C	5: 123,630,721 (GRCm38)	D605G	probably benign	Het
Col26a1	A	G	5: 136,765,300 (GRCm38)		probably null	Het
Crtc1	A	G	8: 70,393,013 (GRCm38)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580 (GRCm38)		probably benign	Het
D17H6S53E	A	T	17: 35,127,409 (GRCm38)		probably null	Het
D17Wsu92e	A	T	17: 27,786,138 (GRCm38)	S148R	probably damaging	Het
Dnah11	G	A	12: 118,196,662 (GRCm38)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122 (GRCm38)	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523 (GRCm38)	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519 (GRCm38)		probably benign	Het
Epn2	T	C	11: 61,519,491 (GRCm38)	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944 (GRCm38)		probably benign	Het
Fam217b	T	C	2: 178,420,989 (GRCm38)	S249P	probably benign	Het
Fam219b	A	G	9: 57,538,016 (GRCm38)		probably benign	Het
Fryl	A	T	5: 73,089,081 (GRCm38)		probably benign	Het
Gm12800	G	A	4: 101,910,097 (GRCm38)	C181Y	probably damaging	Het
Gm13089	A	T	4: 143,698,486 (GRCm38)	M129K	probably benign	Het
Gm14496	T	C	2: 181,996,266 (GRCm38)	W378R	probably damaging	Het
Gm5155	C	A	7: 17,904,981 (GRCm38)	A301E	possibly damaging	Het
Gm8674	A	T	13: 49,904,575 (GRCm38)		noncoding transcript	Het
Grap	T	A	11: 61,660,239 (GRCm38)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,289,357 (GRCm38)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,179 (GRCm38)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,754,296 (GRCm38)	S670P	probably damaging	Het
Itgae	A	T	11: 73,129,206 (GRCm38)	M845L	probably benign	Het
Itih1	A	T	14: 30,941,555 (GRCm38)	V164E	probably damaging	Het
Itpka	T	A	2: 119,750,831 (GRCm38)	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978 (GRCm38)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,839,668 (GRCm38)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,718,193 (GRCm38)		probably null	Het
March6	T	C	15: 31,480,291 (GRCm38)	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,243,449 (GRCm38)		probably benign	Het
Meis1	G	A	11: 18,881,767 (GRCm38)	H424Y	possibly damaging	Het
Mst1r	A	G	9: 107,914,776 (GRCm38)	N837S	probably benign	Het
Mst1r	G	A	9: 107,913,167 (GRCm38)	V660I	probably benign	Het
Mthfd2l	T	C	5: 90,946,942 (GRCm38)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937 (GRCm38)	I312F	probably benign	Het
Olfr1513	T	C	14: 52,349,378 (GRCm38)	I223V	probably benign	Het
Olfr578	C	A	7: 102,984,836 (GRCm38)	L109F	possibly damaging	Het
Olfr875	T	C	9: 37,773,076 (GRCm38)	V139A	probably benign	Het
Otog	C	T	7: 46,269,362 (GRCm38)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,316,324 (GRCm38)		probably benign	Het
Phlpp2	A	G	8: 109,937,106 (GRCm38)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907 (GRCm38)		probably benign	Het
Plekha5	T	A	6: 140,589,634 (GRCm38)		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041 (GRCm38)		probably benign	Het
Rapsn	T	C	2: 91,036,808 (GRCm38)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553 (GRCm38)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,247,933 (GRCm38)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm38)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184 (GRCm38)	A127T	probably benign	Het
Shc1	A	G	3: 89,422,969 (GRCm38)	D70G	probably damaging	Het
Slc26a7	A	T	4: 14,593,873 (GRCm38)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,702,016 (GRCm38)		probably benign	Het
Slc30a7	T	A	3: 115,990,140 (GRCm38)		probably null	Het
Slc44a5	T	C	3: 154,265,474 (GRCm38)	S654P	probably damaging	Het
Stard9	T	G	2: 120,696,999 (GRCm38)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099 (GRCm38)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,052,453 (GRCm38)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,687,430 (GRCm38)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362 (GRCm38)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,845,832 (GRCm38)	D48G	probably damaging	Het
Tgm3	C	T	2: 130,026,682 (GRCm38)		probably benign	Het
Tle2	T	C	10: 81,588,947 (GRCm38)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949 (GRCm38)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,580,322 (GRCm38)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,231,081 (GRCm38)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,479,541 (GRCm38)	C25*	probably null	Het
Ugt3a2	A	G	15: 9,370,150 (GRCm38)	D460G	probably damaging	Het
Urb1	T	C	16: 90,795,448 (GRCm38)	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,318,868 (GRCm38)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,647,679 (GRCm38)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459 (GRCm38)	D267E	probably benign	Het

Other mutations in Slc26a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Slc26a1	APN	5	108,671,878 (GRCm38)	missense	possibly damaging	0.75
IGL02566:Slc26a1	APN	5	108,673,799 (GRCm38)	missense	probably damaging	1.00
IGL03347:Slc26a1	APN	5	108,673,810 (GRCm38)	missense	probably damaging	1.00
R0744:Slc26a1	UTSW	5	108,673,523 (GRCm38)	missense	probably benign	0.01
R1518:Slc26a1	UTSW	5	108,671,874 (GRCm38)	nonsense	probably null
R1726:Slc26a1	UTSW	5	108,673,675 (GRCm38)	missense	probably damaging	1.00
R1766:Slc26a1	UTSW	5	108,671,792 (GRCm38)	missense	probably damaging	1.00
R1975:Slc26a1	UTSW	5	108,672,472 (GRCm38)	missense	probably damaging	1.00
R3953:Slc26a1	UTSW	5	108,673,582 (GRCm38)	missense	possibly damaging	0.85
R3954:Slc26a1	UTSW	5	108,673,582 (GRCm38)	missense	possibly damaging	0.85
R3955:Slc26a1	UTSW	5	108,673,582 (GRCm38)	missense	possibly damaging	0.85
R3969:Slc26a1	UTSW	5	108,673,952 (GRCm38)	missense	probably benign
R4259:Slc26a1	UTSW	5	108,672,630 (GRCm38)	missense	probably damaging	1.00
R5875:Slc26a1	UTSW	5	108,672,037 (GRCm38)	missense	probably damaging	1.00
R6036:Slc26a1	UTSW	5	108,673,570 (GRCm38)	missense	probably damaging	1.00
R6036:Slc26a1	UTSW	5	108,673,570 (GRCm38)	missense	probably damaging	1.00
R6057:Slc26a1	UTSW	5	108,673,765 (GRCm38)	missense	probably damaging	1.00
R6088:Slc26a1	UTSW	5	108,674,006 (GRCm38)	missense	possibly damaging	0.84
R6766:Slc26a1	UTSW	5	108,671,907 (GRCm38)	missense	probably damaging	0.99
R7230:Slc26a1	UTSW	5	108,671,745 (GRCm38)	missense	probably damaging	1.00
R7294:Slc26a1	UTSW	5	108,673,832 (GRCm38)	missense	possibly damaging	0.90
R7580:Slc26a1	UTSW	5	108,671,869 (GRCm38)	missense	probably damaging	1.00
R8396:Slc26a1	UTSW	5	108,673,849 (GRCm38)	missense	probably benign
R8833:Slc26a1	UTSW	5	108,672,316 (GRCm38)	missense	probably benign	0.02
R9556:Slc26a1	UTSW	5	108,672,538 (GRCm38)	missense
R9569:Slc26a1	UTSW	5	108,671,594 (GRCm38)	missense	probably benign
Z1176:Slc26a1	UTSW	5	108,672,431 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGAGTGGCAAGCACCTTCAG -3'
(R):5'- GGGTCTGTTTCCTGCCATACACTG -3'

Sequencing Primer
(F):5'- CCTTCAGGTGCTCTAAGAAACTG -3'
(R):5'- GGCCATAGCCTACTCACTG -3'

Posted On

2013-10-16