Mutagenetix > Incidental Mutation

Incidental Mutation 'R5875:Slc26a1'

455457

Institutional Source

Beutler Lab

Gene Symbol

Slc26a1

Ensembl Gene

ENSMUSG00000046959

Gene Name

solute carrier family 26 (sulfate transporter), member 1

Synonyms

Sat1

MMRRC Submission

044082-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.436) question?

Stock #

R5875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108817744-108823435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108819903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 432 (L432Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131282 (fasta)

Gene Model

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

AlphaFold

P58735

Predicted Effect

probably damaging
Transcript: ENSMUST00000051757
AA Change: L432Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051561
Gene: ENSMUSG00000046959
AA Change: L432Q

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 damaging
Transcript: ENSMUST00000119270
AA Change: L448Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113185
Gene: ENSMUSG00000046959
AA Change: L448Q

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

SMART Domains

Protein: ENSMUSP00000116540
Gene: ENSMUSG00000046959

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 damaging
Transcript: ENSMUST00000163328
AA Change: L432Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131282
Gene: ENSMUSG00000046959
AA Change: L432Q

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

noncoding transcript
Transcript: ENSMUST00000151445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159464

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,028,737 (GRCm39)	V154A	possibly damaging	Het
Abcc1	A	G	16: 14,284,901 (GRCm39)	E1250G	possibly damaging	Het
Ajap1	A	C	4: 153,516,798 (GRCm39)	I181R	probably damaging	Het
Akap9	A	G	5: 4,127,285 (GRCm39)	Y3711C	probably benign	Het
Ark2c	T	C	18: 77,650,877 (GRCm39)		probably benign	Het
Arl1	T	C	10: 88,577,841 (GRCm39)	S137P	probably benign	Het
Atp6v0a2	G	A	5: 124,793,391 (GRCm39)	V583I	probably benign	Het
Cdca7	T	A	2: 72,313,901 (GRCm39)	M230K	probably benign	Het
Chd9	A	T	8: 91,778,464 (GRCm39)	D2841V	probably damaging	Het
Chp1	T	A	2: 119,402,296 (GRCm39)	F90Y	probably damaging	Het
Ckap5	A	G	2: 91,391,206 (GRCm39)	T345A	probably benign	Het
Clca4b	A	C	3: 144,628,650 (GRCm39)	S352R	probably benign	Het
Cmya5	A	G	13: 93,231,692 (GRCm39)	V1132A	probably benign	Het
Crb2	T	A	2: 37,677,266 (GRCm39)		probably null	Het
Crhbp	A	G	13: 95,580,304 (GRCm39)	F99L	probably benign	Het
Dnmt3l	A	T	10: 77,889,772 (GRCm39)	M210L	probably benign	Het
Dyrk2	T	A	10: 118,696,602 (GRCm39)	R219W	probably damaging	Het
Exosc1	A	G	19: 41,916,542 (GRCm39)	I78T	probably damaging	Het
Exosc9	T	C	3: 36,615,342 (GRCm39)		probably null	Het
Frmd5	A	G	2: 121,388,959 (GRCm39)		probably benign	Het
Gata2	T	C	6: 88,179,473 (GRCm39)	L315P	probably damaging	Het
Gm17067	G	A	7: 42,357,470 (GRCm39)	T344I	probably benign	Het
Gm4884	A	T	7: 40,692,360 (GRCm39)	T110S	possibly damaging	Het
Hapln3	T	C	7: 78,771,721 (GRCm39)	E56G	probably benign	Het
Helq	A	C	5: 100,944,336 (GRCm39)	I258S	probably damaging	Het
Hoxd10	T	C	2: 74,522,426 (GRCm39)	Y35H	possibly damaging	Het
Inpp5b	T	C	4: 124,674,199 (GRCm39)	V302A	possibly damaging	Het
Inpp5d	T	A	1: 87,645,696 (GRCm39)	I1027N	possibly damaging	Het
Ints2	T	C	11: 86,129,138 (GRCm39)	S482G	probably benign	Het
Itih1	C	T	14: 30,651,487 (GRCm39)	V902I	probably benign	Het
Jkampl	T	C	6: 73,446,028 (GRCm39)	I174V	possibly damaging	Het
Kctd16	T	A	18: 40,390,447 (GRCm39)		probably benign	Het
Kif27	T	C	13: 58,458,918 (GRCm39)	N971S	probably benign	Het
Klra17	T	C	6: 129,851,791 (GRCm39)	D27G	probably benign	Het
Leo1	G	C	9: 75,357,842 (GRCm39)	R412S	probably damaging	Het
Lonrf2	T	C	1: 38,846,128 (GRCm39)	N348S	probably benign	Het
Lpp	G	A	16: 24,427,059 (GRCm39)	G62E	probably benign	Het
Lyn	G	A	4: 3,745,631 (GRCm39)		probably null	Het
Macf1	T	A	4: 123,326,107 (GRCm39)	N5128I	possibly damaging	Het
Mapk7	T	A	11: 61,384,524 (GRCm39)	I61L	probably benign	Het
Mindy1	T	C	3: 95,202,125 (GRCm39)	V334A	probably damaging	Het
Muc20	G	A	16: 32,614,189 (GRCm39)	T396I	possibly damaging	Het
Myo5b	A	T	18: 74,840,973 (GRCm39)		probably null	Het
Noc4l	A	C	5: 110,799,176 (GRCm39)		probably null	Het
Oas1c	A	G	5: 120,943,627 (GRCm39)	Y171H	probably damaging	Het
Pclo	A	T	5: 14,730,614 (GRCm39)		probably benign	Het
Pmpcb	G	A	5: 21,947,944 (GRCm39)	E216K	probably benign	Het
Pskh1	G	A	8: 106,639,731 (GRCm39)	R137Q	possibly damaging	Het
Ptprb	T	G	10: 116,184,071 (GRCm39)	W1628G	probably benign	Het
Ranbp3	T	A	17: 57,014,955 (GRCm39)		probably null	Het
Sart1	T	C	19: 5,433,823 (GRCm39)	D338G	probably damaging	Het
Scn8a	T	A	15: 100,870,703 (GRCm39)	Y251*	probably null	Het
Sdk2	G	T	11: 113,720,885 (GRCm39)	T1348K	probably benign	Het
Sec16a	A	G	2: 26,323,379 (GRCm39)	Y1272H	probably damaging	Het
Susd1	A	T	4: 59,412,203 (GRCm39)	F117I	possibly damaging	Het
Taf5	A	T	19: 47,064,549 (GRCm39)	Y465F	probably damaging	Het
Tcstv1a	T	A	13: 120,355,630 (GRCm39)	M1L	probably benign	Het
Tectb	A	G	19: 55,178,058 (GRCm39)	D193G	possibly damaging	Het
Tex56	T	G	13: 35,116,429 (GRCm39)	C59W	probably damaging	Het
Tirap	G	A	9: 35,100,465 (GRCm39)	P73L	probably damaging	Het
Tm6sf2	A	G	8: 70,528,039 (GRCm39)	D86G	possibly damaging	Het
Tmem161b	A	T	13: 84,442,977 (GRCm39)	H481L	probably damaging	Het
Tnrc6c	G	A	11: 117,650,534 (GRCm39)	V1763I	probably damaging	Het
Ubxn1	T	C	19: 8,849,584 (GRCm39)	S75P	probably benign	Het
Uhrf2	A	G	19: 30,066,702 (GRCm39)	K709E	probably damaging	Het
Vmn2r101	T	A	17: 19,809,092 (GRCm39)	Y74N	probably damaging	Het
Xirp2	A	G	2: 67,335,424 (GRCm39)	E81G	probably benign	Het
Zbtb45	A	G	7: 12,742,237 (GRCm39)	V7A	possibly damaging	Het
Zfp668	C	A	7: 127,465,474 (GRCm39)	R570L	possibly damaging	Het
Zmiz1	T	A	14: 25,636,390 (GRCm39)	M125K	possibly damaging	Het
Zmiz2	T	C	11: 6,355,072 (GRCm39)	L913P	probably damaging	Het

Other mutations in Slc26a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Slc26a1	APN	5	108,819,744 (GRCm39)	missense	possibly damaging	0.75
IGL02566:Slc26a1	APN	5	108,821,665 (GRCm39)	missense	probably damaging	1.00
IGL03347:Slc26a1	APN	5	108,821,676 (GRCm39)	missense	probably damaging	1.00
R0744:Slc26a1	UTSW	5	108,821,389 (GRCm39)	missense	probably benign	0.01
R0833:Slc26a1	UTSW	5	108,821,389 (GRCm39)	missense	probably benign	0.01
R1518:Slc26a1	UTSW	5	108,819,740 (GRCm39)	nonsense	probably null
R1726:Slc26a1	UTSW	5	108,821,541 (GRCm39)	missense	probably damaging	1.00
R1766:Slc26a1	UTSW	5	108,819,658 (GRCm39)	missense	probably damaging	1.00
R1975:Slc26a1	UTSW	5	108,820,338 (GRCm39)	missense	probably damaging	1.00
R3953:Slc26a1	UTSW	5	108,821,448 (GRCm39)	missense	possibly damaging	0.85
R3954:Slc26a1	UTSW	5	108,821,448 (GRCm39)	missense	possibly damaging	0.85
R3955:Slc26a1	UTSW	5	108,821,448 (GRCm39)	missense	possibly damaging	0.85
R3969:Slc26a1	UTSW	5	108,821,818 (GRCm39)	missense	probably benign
R4259:Slc26a1	UTSW	5	108,820,496 (GRCm39)	missense	probably damaging	1.00
R6036:Slc26a1	UTSW	5	108,821,436 (GRCm39)	missense	probably damaging	1.00
R6036:Slc26a1	UTSW	5	108,821,436 (GRCm39)	missense	probably damaging	1.00
R6057:Slc26a1	UTSW	5	108,821,631 (GRCm39)	missense	probably damaging	1.00
R6088:Slc26a1	UTSW	5	108,821,872 (GRCm39)	missense	possibly damaging	0.84
R6766:Slc26a1	UTSW	5	108,819,773 (GRCm39)	missense	probably damaging	0.99
R7230:Slc26a1	UTSW	5	108,819,611 (GRCm39)	missense	probably damaging	1.00
R7294:Slc26a1	UTSW	5	108,821,698 (GRCm39)	missense	possibly damaging	0.90
R7580:Slc26a1	UTSW	5	108,819,735 (GRCm39)	missense	probably damaging	1.00
R8396:Slc26a1	UTSW	5	108,821,715 (GRCm39)	missense	probably benign
R8833:Slc26a1	UTSW	5	108,820,182 (GRCm39)	missense	probably benign	0.02
R9556:Slc26a1	UTSW	5	108,820,404 (GRCm39)	missense
R9569:Slc26a1	UTSW	5	108,819,460 (GRCm39)	missense	probably benign
Z1176:Slc26a1	UTSW	5	108,820,297 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAATAGTCCAGCCTCGGTGCTG -3'
(R):5'- CCTTGGCAGAAATGTTTGCC -3'

Sequencing Primer
(F):5'- AGCCTCGGTGCTGACTAG -3'
(R):5'- CAGAAATGTTTGCCCGTAGTC -3'

Posted On

2017-02-10