Mutagenetix > Incidental Mutation

Incidental Mutation 'R1819:Slc26a8'

204751

Institutional Source

Beutler Lab

Gene Symbol

Slc26a8

Ensembl Gene

ENSMUSG00000036196

Gene Name

solute carrier family 26, member 8

Synonyms

MMRRC Submission

039847-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.377) question?

Stock #

R1819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28856757-28909207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28903808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 19 (F19I)

Ref Sequence

ENSEMBL: ENSMUSP00000110412 (fasta)

Gene Model

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

AlphaFold

Q8R0C3

Predicted Effect

probably benign
Transcript: ENSMUST00000114764
AA Change: F19I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110412
Gene: ENSMUSG00000036196
AA Change: F19I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145224

Meta Mutation Damage Score

0.1122

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,871,882 (GRCm39)		probably null	Het
Abhd17a	T	C	10: 80,422,470 (GRCm39)	T71A	probably benign	Het
Acad11	G	A	9: 103,991,738 (GRCm39)		probably null	Het
Adgrf1	C	A	17: 43,620,924 (GRCm39)	T387K	probably benign	Het
Afdn	A	G	17: 14,071,110 (GRCm39)	T783A	probably damaging	Het
Akap13	T	A	7: 75,258,453 (GRCm39)	M359K	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atl1	T	C	12: 70,010,074 (GRCm39)	S547P	probably benign	Het
Bace1	A	T	9: 45,768,460 (GRCm39)	T252S	possibly damaging	Het
BC034090	A	G	1: 155,101,575 (GRCm39)	S230P	possibly damaging	Het
Bnc2	A	G	4: 84,210,111 (GRCm39)	F778L	possibly damaging	Het
Capn2	T	A	1: 182,300,162 (GRCm39)	K609N	probably benign	Het
Capn8	T	A	1: 182,426,391 (GRCm39)	I242N	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,926,195 (GRCm39)	E1135G	possibly damaging	Het
Ccdc181	C	T	1: 164,110,047 (GRCm39)	Q385*	probably null	Het
Cdh10	G	T	15: 18,992,051 (GRCm39)	G437*	probably null	Het
Ceacam1	T	A	7: 25,163,285 (GRCm39)	Q316L	possibly damaging	Het
Cecr2	A	G	6: 120,708,228 (GRCm39)	T77A	probably damaging	Het
Cers4	T	A	8: 4,571,232 (GRCm39)	M267K	probably benign	Het
Csmd3	T	C	15: 47,617,131 (GRCm39)	D1930G	possibly damaging	Het
Cyp2j11	A	T	4: 96,185,976 (GRCm39)	V403D	probably damaging	Het
Cyp4v3	G	A	8: 45,768,673 (GRCm39)	R296C	possibly damaging	Het
Ddx59	A	G	1: 136,360,245 (GRCm39)	I420V	probably damaging	Het
Dnah5	T	A	15: 28,246,546 (GRCm39)	L628*	probably null	Het
Dnah7a	A	C	1: 53,598,307 (GRCm39)	D1409E	probably benign	Het
Dus2	T	A	8: 106,778,480 (GRCm39)	W377R	probably damaging	Het
E330034G19Rik	A	G	14: 24,348,081 (GRCm39)	D111G	probably damaging	Het
Erich4	C	T	7: 25,314,715 (GRCm39)	R66Q	possibly damaging	Het
Fcgbp	G	T	7: 27,784,708 (GRCm39)	R256L	probably benign	Het
Fdxr	A	T	11: 115,166,930 (GRCm39)	F53Y	probably damaging	Het
Fkbp10	G	T	11: 100,306,715 (GRCm39)	A36S	probably benign	Het
Foxo3	A	T	10: 42,073,607 (GRCm39)	D84E	probably benign	Het
Gin1	A	G	1: 97,712,951 (GRCm39)		probably null	Het
Gli3	C	T	13: 15,900,377 (GRCm39)	Q1255*	probably null	Het
Gm4847	T	A	1: 166,465,788 (GRCm39)	H267L	probably damaging	Het
Gpr171	T	C	3: 59,005,341 (GRCm39)	I145V	probably benign	Het
Gpr68	T	A	12: 100,844,662 (GRCm39)	H294L	possibly damaging	Het
Gys2	T	C	6: 142,406,912 (GRCm39)	E148G	probably damaging	Het
Heatr5b	T	C	17: 79,098,940 (GRCm39)	D1320G	probably damaging	Het
Ifnlr1	G	T	4: 135,413,834 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,692,976 (GRCm39)	E392K	probably damaging	Het
Igsf9b	T	A	9: 27,222,889 (GRCm39)	S97T	probably damaging	Het
Il18rap	A	G	1: 40,570,687 (GRCm39)	I210V	probably benign	Het
Kcnj11	C	T	7: 45,748,580 (GRCm39)	G248S	probably benign	Het
Kif28	T	C	1: 179,533,319 (GRCm39)	K541E	possibly damaging	Het
Lilrb4a	A	G	10: 51,372,124 (GRCm39)	Y205C	probably damaging	Het
Lima1	T	A	15: 99,717,817 (GRCm39)	H63L	probably benign	Het
Lonrf3	A	G	X: 35,622,361 (GRCm39)	I687V	probably damaging	Het
Lrba	A	G	3: 86,449,941 (GRCm39)	T2099A	possibly damaging	Het
Morn5	C	T	2: 35,942,987 (GRCm39)	T29M	probably damaging	Het
Neurl1b	G	A	17: 26,657,674 (GRCm39)	R22H	probably benign	Het
Nr2e3	T	C	9: 59,850,720 (GRCm39)	I380V	probably damaging	Het
Oas1c	G	A	5: 120,946,800 (GRCm39)	A10V	possibly damaging	Het
Or1e35	T	C	11: 73,797,505 (GRCm39)	E271G	probably benign	Het
Or52e8	C	T	7: 104,624,605 (GRCm39)	V196I	probably benign	Het
P3h3	T	C	6: 124,831,895 (GRCm39)	T297A	probably benign	Het
Pdpk1	T	C	17: 24,329,878 (GRCm39)	K53E	probably damaging	Het
Plec	C	T	15: 76,064,106 (GRCm39)	R2056Q	probably damaging	Het
Plxna2	T	A	1: 194,472,494 (GRCm39)	N1079K	probably benign	Het
Prr12	G	C	7: 44,698,121 (GRCm39)		probably benign	Het
Psip1	A	G	4: 83,376,400 (GRCm39)	S480P	probably benign	Het
Ptpre	A	G	7: 135,270,722 (GRCm39)		probably benign	Het
Pvalb	A	C	15: 78,086,784 (GRCm39)	V44G	probably damaging	Het
Rab3c	T	G	13: 110,220,669 (GRCm39)	Q164P	possibly damaging	Het
Rubcn	T	C	16: 32,647,284 (GRCm39)	K703R	possibly damaging	Het
Setd7	T	G	3: 51,450,060 (GRCm39)	H122P	probably benign	Het
Slc6a14	A	G	X: 21,607,286 (GRCm39)	D625G	probably benign	Het
Snx6	C	T	12: 54,830,259 (GRCm39)	V67I	possibly damaging	Het
Syngr3	A	G	17: 24,906,696 (GRCm39)	F40L	possibly damaging	Het
Syt8	G	A	7: 141,991,971 (GRCm39)	G21R	possibly damaging	Het
Tagln	A	G	9: 45,842,138 (GRCm39)	F152L	probably benign	Het
Tcf12	G	A	9: 72,016,999 (GRCm39)	T36M	probably damaging	Het
Tdrd6	C	T	17: 43,937,442 (GRCm39)	S1202N	probably benign	Het
Tekt2	T	C	4: 126,217,529 (GRCm39)	K179E	probably damaging	Het
Tekt4	G	T	17: 25,692,785 (GRCm39)		probably null	Het
Tmprss5	G	T	9: 49,018,464 (GRCm39)	R98L	probably benign	Het
Tns1	G	T	1: 73,955,635 (GRCm39)		probably benign	Het
Tpcn1	A	C	5: 120,674,292 (GRCm39)		probably null	Het
Ttc6	T	C	12: 57,741,286 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,964,796 (GRCm39)	N706S	possibly damaging	Het
Washc4	C	T	10: 83,386,748 (GRCm39)	T124I	probably benign	Het
Wdr17	A	T	8: 55,143,159 (GRCm39)	S140T	probably benign	Het
Wdr19	A	T	5: 65,370,234 (GRCm39)	I123F	possibly damaging	Het
Zer1	C	T	2: 30,000,230 (GRCm39)	A317T	probably benign	Het
Zfp474	A	G	18: 52,771,872 (GRCm39)	D175G	probably damaging	Het
Zfp598	T	C	17: 24,900,104 (GRCm39)		probably benign	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zranb3	A	T	1: 127,945,293 (GRCm39)		probably null	Het

Other mutations in Slc26a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01466:Slc26a8	APN	17	28,873,922 (GRCm39)	missense	probably benign	0.01
IGL02041:Slc26a8	APN	17	28,861,225 (GRCm39)	missense	probably damaging	1.00
IGL02389:Slc26a8	APN	17	28,857,624 (GRCm39)	missense	probably benign	0.00
E0370:Slc26a8	UTSW	17	28,861,361 (GRCm39)	missense	possibly damaging	0.77
FR4449:Slc26a8	UTSW	17	28,857,290 (GRCm39)	small deletion	probably benign
R1028:Slc26a8	UTSW	17	28,891,772 (GRCm39)	missense	probably damaging	1.00
R1445:Slc26a8	UTSW	17	28,867,187 (GRCm39)	missense	possibly damaging	0.72
R1501:Slc26a8	UTSW	17	28,857,536 (GRCm39)	missense	possibly damaging	0.73
R1606:Slc26a8	UTSW	17	28,857,455 (GRCm39)	missense	possibly damaging	0.73
R1950:Slc26a8	UTSW	17	28,863,614 (GRCm39)	missense	probably benign	0.06
R1973:Slc26a8	UTSW	17	28,882,579 (GRCm39)	missense	probably benign	0.01
R2203:Slc26a8	UTSW	17	28,866,981 (GRCm39)	missense	probably benign	0.06
R3912:Slc26a8	UTSW	17	28,863,753 (GRCm39)	missense	possibly damaging	0.92
R4176:Slc26a8	UTSW	17	28,866,973 (GRCm39)	missense	probably benign	0.04
R4539:Slc26a8	UTSW	17	28,878,591 (GRCm39)	missense	probably benign	0.00
R4661:Slc26a8	UTSW	17	28,857,658 (GRCm39)	missense	probably benign	0.04
R4766:Slc26a8	UTSW	17	28,857,635 (GRCm39)	missense	probably benign	0.01
R4850:Slc26a8	UTSW	17	28,873,857 (GRCm39)	missense	probably benign	0.01
R4867:Slc26a8	UTSW	17	28,882,608 (GRCm39)	missense	probably benign	0.05
R5521:Slc26a8	UTSW	17	28,873,833 (GRCm39)	missense	probably benign	0.10
R5713:Slc26a8	UTSW	17	28,880,853 (GRCm39)	missense	probably benign	0.01
R6092:Slc26a8	UTSW	17	28,867,129 (GRCm39)	missense	probably damaging	1.00
R6135:Slc26a8	UTSW	17	28,888,914 (GRCm39)	missense	probably benign	0.00
R6372:Slc26a8	UTSW	17	28,863,777 (GRCm39)	missense	probably benign	0.08
R6543:Slc26a8	UTSW	17	28,857,375 (GRCm39)	missense	possibly damaging	0.53
R6590:Slc26a8	UTSW	17	28,863,629 (GRCm39)	missense	possibly damaging	0.52
R6690:Slc26a8	UTSW	17	28,863,629 (GRCm39)	missense	possibly damaging	0.52
R6866:Slc26a8	UTSW	17	28,857,455 (GRCm39)	missense	probably benign	0.27
R7057:Slc26a8	UTSW	17	28,857,371 (GRCm39)	missense	possibly damaging	0.72
R7423:Slc26a8	UTSW	17	28,867,177 (GRCm39)	missense	probably benign	0.32
R7496:Slc26a8	UTSW	17	28,863,824 (GRCm39)	missense	probably benign	0.20
R8387:Slc26a8	UTSW	17	28,866,899 (GRCm39)	missense	probably benign	0.00
R9422:Slc26a8	UTSW	17	28,857,560 (GRCm39)	missense	possibly damaging	0.62
R9455:Slc26a8	UTSW	17	28,863,588 (GRCm39)	missense	probably damaging	1.00
RF015:Slc26a8	UTSW	17	28,857,315 (GRCm39)	small deletion	probably benign
Z1177:Slc26a8	UTSW	17	28,857,139 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAAGGTTCTTACAGCAGG -3'
(R):5'- GCTTTCACCACTGAGCCATC -3'

Sequencing Primer
(F):5'- GCAAGGTTCTTACAGCAGGAATTC -3'
(R):5'- TCACTCTGTAGACCAGGCTGAC -3'

Posted On

2014-06-23