Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Slc26a8'

511545

Institutional Source

Beutler Lab

Gene Symbol

Slc26a8

Ensembl Gene

ENSMUSG00000036196

Gene Name

solute carrier family 26, member 8

Synonyms

Accession Numbers

Essential gene?

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

Stock #

FR4449 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

28856757-28909207 bp(-) (GRCm39)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

CTCTCTG to C at 28857290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110412 (fasta)

Gene Model

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

AlphaFold

Q8R0C3

Predicted Effect

probably benign
Transcript: ENSMUST00000114764

SMART Domains

Protein: ENSMUSP00000110412
Gene: ENSMUSG00000036196

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

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

Validation Efficiency

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	GGTATTGCATTTCTTATCT	G	5: 4,031,214 (GRCm39)		probably benign	Homo
Amfr	C	G	8: 94,731,787 (GRCm39)	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	AGC	AGCCAATAACGC	18: 34,415,058 (GRCm39)		probably benign	Het
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,415,053 (GRCm39)		probably benign	Het
Apol6	TTT	TTTGATT	15: 76,935,643 (GRCm39)		probably null	Homo
Arid1b	CGG	CGGTGG	17: 5,045,864 (GRCm39)		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,523,387 (GRCm39)		probably benign	Homo
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,656 (GRCm39)		probably benign	Het
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,814,754 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 85,365,343 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 85,365,352 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,349 (GRCm39)		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,129,713 (GRCm39)		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,226,454 (GRCm39)		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,240,875 (GRCm39)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,873,737 (GRCm39)		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,296,982 (GRCm39)		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,152,953 (GRCm39)		probably benign	Het
Cfap46	T	C	7: 139,218,711 (GRCm39)		probably benign	Homo
Cgref1	TTC	TTCGTC	5: 31,091,120 (GRCm39)		probably benign	Het
Cgref1	CTT	CTTATT	5: 31,091,122 (GRCm39)		probably null	Homo
Cluh	G	GACTGAA	11: 74,560,358 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cpne1	CCTACT	CCT	2: 155,915,422 (GRCm39)		probably benign	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,461 (GRCm39)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,811,782 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,739 (GRCm39)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,465,749 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,727 (GRCm39)		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,629,020 (GRCm39)		probably benign	Homo
Dhx8	CG	CGAGACAG	11: 101,629,032 (GRCm39)		probably benign	Het
Dhx8	G	GAGACCC	11: 101,629,033 (GRCm39)		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,629,010 (GRCm39)		probably benign	Homo
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,326,254 (GRCm39)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,469,150 (GRCm39)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 57,938,086 (GRCm39)		probably benign	Het
Fgd6	GGAT	G	10: 93,880,182 (GRCm39)		probably benign	Homo
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,504,901 (GRCm39)		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,624,353 (GRCm39)		probably benign	Homo
Gatad2b	AGAC	A	3: 90,249,224 (GRCm39)		probably benign	Het
Gigyf2	C	T	1: 87,356,307 (GRCm39)		probably benign	Het
Gm16519	A	AGAT	17: 71,236,333 (GRCm39)		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,031,946 (GRCm39)		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,031,947 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,943 (GRCm39)		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 79,149,597 (GRCm39)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 79,149,605 (GRCm39)		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 79,149,610 (GRCm39)		probably benign	Het
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,812,264 (GRCm39)		probably benign	Homo
Igsf10	G	A	3: 59,226,531 (GRCm39)	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 26,804,635 (GRCm39)		probably benign	Het
Ints5	G	A	19: 8,874,594 (GRCm39)	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,839,020 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Kifc5b	A	C	17: 27,143,191 (GRCm39)	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,198,809 (GRCm39)		probably null	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,794 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,786 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Krt10	ACC	ACCACCTCC	11: 99,280,093 (GRCm39)		probably benign	Het
Las1l	GA	GAGAA	X: 94,984,438 (GRCm39)		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 92,925,459 (GRCm39)		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,357,855 (GRCm39)		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,339,364 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,183,384 (GRCm39)		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,468,735 (GRCm39)		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,567,576 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Nat8f2	T	A	6: 85,844,668 (GRCm39)	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,324,558 (GRCm39)		probably benign	Het
Nrg3	T	TAGACAC	14: 38,119,228 (GRCm39)		probably benign	Het
Or8b41	A	G	9: 38,054,484 (GRCm39)	I13V	probably benign	Homo
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,532,927 (GRCm39)		probably null	Homo
Pik3ap1	G	GGAA	19: 41,270,385 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,891,422 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,347,025 (GRCm39)		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,246,814 (GRCm39)		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,599,166 (GRCm39)		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,809,376 (GRCm39)		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 24,164,338 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,498 (GRCm39)		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,646,812 (GRCm39)		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,373,065 (GRCm39)		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,928,790 (GRCm39)		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 124,996,136 (GRCm39)		probably benign	Homo
Spata31h1	TTCAGT	TT	10: 82,121,303 (GRCm39)		probably null	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm39)		probably benign	Het
Sry	TGCTG	TGCTGCTG	Y: 2,662,832 (GRCm39)		probably benign	Homo
Ston1	G	A	17: 88,942,953 (GRCm39)	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,070 (GRCm39)		probably benign	Het
Tbl3	TG	TGTGG	17: 24,921,518 (GRCm39)		probably benign	Homo
Tctn3	AG	AGAAGCCG	19: 40,595,646 (GRCm39)		probably benign	Het
Tesk1	CCC	CCCACC	4: 43,447,002 (GRCm39)		probably benign	Homo
Tmc2	T	G	2: 130,082,116 (GRCm39)	V433G	probably damaging	Het
Tmprss13	G	A	9: 45,239,856 (GRCm39)	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,906 (GRCm39)		probably null	Homo
Tob1	CAG	CAGAAG	11: 94,105,294 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,301 (GRCm39)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,562,756 (GRCm39)		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,877,589 (GRCm39)		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,197,774 (GRCm39)		probably null	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,311,623 (GRCm39)	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,561,041 (GRCm39)		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 109,682,726 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,749,403 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,759 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,487,264 (GRCm39)		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,487,275 (GRCm39)		probably benign	Het
Zfp978	G	T	4: 147,475,401 (GRCm39)	S316I	probably benign	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
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
R1819:Slc26a8	UTSW	17	28,903,808 (GRCm39)	missense	probably benign	0.31
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'- TTGCCAAGATACTCAGCCTGC -3'
(R):5'- CTAGACTTGGACTTGGACCAGTC -3'

Sequencing Primer
(F):5'- GCATTTTGCAGTCACCTACCAAGG -3'
(R):5'- TTGGACTTGGACCAGTCAGAGC -3'

Posted On

2018-04-05