Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Slc26a8'

366187

Institutional Source

Beutler Lab

Gene Symbol

Slc26a8

Ensembl Gene

ENSMUSG00000036196

Gene Name

solute carrier family 26, member 8

Synonyms

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.368) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28637783-28689987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28638661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 836 (T836M)

Ref Sequence

ENSEMBL: ENSMUSP00000110412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114764]

AlphaFold

Q8R0C3

Predicted Effect

probably benign
Transcript: ENSMUST00000114764
AA Change: T836M

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110412
Gene: ENSMUSG00000036196
AA Change: T836M

Domain	Start	End	E-Value	Type
Pfam:Sulfate_transp	90	491	1.2e-72	PFAM
low complexity region	494	509	N/A	INTRINSIC
Pfam:STAS	542	792	7.3e-16	PFAM
low complexity region	881	896	N/A	INTRINSIC
low complexity region	923	958	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit male sterility associated with sperm immotility, abnormal flagella and reduced acrosomal reaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,643,988	D1501G	probably benign	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Flvcr1	A	T	1: 191,021,106	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Nup85	T	A	11: 115,577,925		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Senp1	T	C	15: 98,045,896	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307	T76A	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zfp512b	T	C	2: 181,585,095		probably benign	Het
Zyx	C	A	6: 42,356,159		probably null	Het

Other mutations in Slc26a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Slc26a8	APN	17	28654948	missense	probably benign	0.01
IGL02041:Slc26a8	APN	17	28642251	missense	probably damaging	1.00
IGL02389:Slc26a8	APN	17	28638650	missense	probably benign	0.00
E0370:Slc26a8	UTSW	17	28642387	missense	possibly damaging	0.77
FR4449:Slc26a8	UTSW	17	28638316	small deletion	probably benign
R1028:Slc26a8	UTSW	17	28672798	missense	probably damaging	1.00
R1445:Slc26a8	UTSW	17	28648213	missense	possibly damaging	0.72
R1501:Slc26a8	UTSW	17	28638562	missense	possibly damaging	0.73
R1606:Slc26a8	UTSW	17	28638481	missense	possibly damaging	0.73
R1819:Slc26a8	UTSW	17	28684834	missense	probably benign	0.31
R1950:Slc26a8	UTSW	17	28644640	missense	probably benign	0.06
R1973:Slc26a8	UTSW	17	28663605	missense	probably benign	0.01
R2203:Slc26a8	UTSW	17	28648007	missense	probably benign	0.06
R3912:Slc26a8	UTSW	17	28644779	missense	possibly damaging	0.92
R4176:Slc26a8	UTSW	17	28647999	missense	probably benign	0.04
R4539:Slc26a8	UTSW	17	28659617	missense	probably benign	0.00
R4661:Slc26a8	UTSW	17	28638684	missense	probably benign	0.04
R4850:Slc26a8	UTSW	17	28654883	missense	probably benign	0.01
R4867:Slc26a8	UTSW	17	28663634	missense	probably benign	0.05
R5521:Slc26a8	UTSW	17	28654859	missense	probably benign	0.10
R5713:Slc26a8	UTSW	17	28661879	missense	probably benign	0.01
R6092:Slc26a8	UTSW	17	28648155	missense	probably damaging	1.00
R6135:Slc26a8	UTSW	17	28669940	missense	probably benign	0.00
R6372:Slc26a8	UTSW	17	28644803	missense	probably benign	0.08
R6543:Slc26a8	UTSW	17	28638401	missense	possibly damaging	0.53
R6590:Slc26a8	UTSW	17	28644655	missense	possibly damaging	0.52
R6690:Slc26a8	UTSW	17	28644655	missense	possibly damaging	0.52
R6866:Slc26a8	UTSW	17	28638481	missense	probably benign	0.27
R7057:Slc26a8	UTSW	17	28638397	missense	possibly damaging	0.72
R7423:Slc26a8	UTSW	17	28648203	missense	probably benign	0.32
R7496:Slc26a8	UTSW	17	28644850	missense	probably benign	0.20
R8387:Slc26a8	UTSW	17	28647925	missense	probably benign	0.00
R9422:Slc26a8	UTSW	17	28638586	missense	possibly damaging	0.62
R9455:Slc26a8	UTSW	17	28644614	missense	probably damaging	1.00
RF015:Slc26a8	UTSW	17	28638341	small deletion	probably benign
Z1177:Slc26a8	UTSW	17	28638165	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GACTGGTCCAAGTCCAAGTCTAG -3'
(R):5'- GCTTGCCTACTTGGAAGTGAAG -3'

Sequencing Primer
(F):5'- CAAGTCCAAGTCTAGGTCCAGATTG -3'
(R):5'- GACTGTCCTGGAACTCACTCTGTAG -3'

Posted On

2015-12-21