Mutagenetix > Incidental Mutation

Incidental Mutation 'RF015:Slc26a8'

603504

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 #

RF015 (G1)

Quality Score

164.468

Status

Not validated

Chromosome

Chromosomal Location

28856757-28909207 bp(-) (GRCm39)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

TCTCTGGCTCTGGCTCTGGCTCTGGCTC to TCTCTGGCTCTGGCTCTGGCTC at 28857315 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: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,824 (GRCm39)		probably benign	Het
5430401F13Rik	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,822 (GRCm39)		probably benign	Het
5430401F13Rik	CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,819 (GRCm39)		probably benign	Het
Abcb4	GAA	G	5: 8,946,594 (GRCm39)		probably null	Het
Agap1	T	A	1: 89,561,985 (GRCm39)	Y214*	probably null	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 122,886,085 (GRCm39)		probably benign	Het
Arid1a	AGGC	A	4: 133,480,142 (GRCm39)		probably benign	Het
Bco2	A	G	9: 50,457,297 (GRCm39)	F82L	probably damaging	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAGTATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGGGGCTGTGGCTG	19: 47,129,695 (GRCm39)		probably benign	Het
Capn9	T	C	8: 125,345,221 (GRCm39)	F683L	probably benign	Het
Cep131	CTGTTGTT	CTGTTGTTGTT	11: 119,963,794 (GRCm39)		probably benign	Het
Cfap251	GGAGGAGGAGGAG	GGAGGAGGAGGAGGAG	5: 123,392,305 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Chga	AGC	AGCGGC	12: 102,527,679 (GRCm39)		probably benign	Het
Cyb5r4	GACACA	GACACAGTGCCCAAGGATGTGACATACACA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyb5r4	CTGCCCAGGGA	CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA	9: 86,922,491 (GRCm39)		probably benign	Het
Cyria	T	A	12: 12,419,939 (GRCm39)	S294R	probably benign	Het
Dnah10	G	A	5: 124,895,141 (GRCm39)	D3557N	probably damaging	Het
Dnmt1	GGAGCACAGTTCCTACCTCGTT	GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT	9: 20,821,420 (GRCm39)		probably null	Het
Dnmt1	ACAGTTCCTACCTCGTT	ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT	9: 20,821,425 (GRCm39)		probably null	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Garin5a	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,149,946 (GRCm39)		probably null	Het
Gatad1	A	T	5: 3,697,523 (GRCm39)	C33S	possibly damaging	Het
H2-DMb1	A	G	17: 34,374,476 (GRCm39)	Y42C	probably damaging	Het
Hars2	G	T	18: 36,918,998 (GRCm39)	R86L	probably damaging	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Irag2	AGCACATTG	AGCACATTGCGCACATTG	6: 145,119,509 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCGGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,447 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Het
Mucl2	T	A	15: 103,927,696 (GRCm39)	N87I	probably benign	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Nup214	T	C	2: 31,924,718 (GRCm39)	V1749A	probably benign	Het
Or52e5	A	G	7: 104,719,255 (GRCm39)	I194V	probably damaging	Het
Pcdhgb4	A	T	18: 37,854,855 (GRCm39)	N417Y	probably damaging	Het
Pclo	G	T	5: 14,565,283 (GRCm39)	L16F	unknown	Het
Pik3c2g	T	A	6: 139,700,497 (GRCm39)	N262K		Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf41	C	T	10: 128,271,279 (GRCm39)	A63V	probably benign	Het
Sirt1	C	T	10: 63,172,795 (GRCm39)	A163T	probably damaging	Het
Six3	GCG	GCGTCG	17: 85,928,798 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Skor2	A	G	18: 76,948,483 (GRCm39)	E735G	probably damaging	Het
Smco2	T	TTCG	6: 146,754,161 (GRCm39)		probably benign	Het
Strada	A	G	11: 106,061,846 (GRCm39)	I172T	probably damaging	Het
Syne1	T	C	10: 5,252,248 (GRCm39)	I2469V	probably benign	Het
Tcof1	C	CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA	18: 60,966,656 (GRCm39)		probably benign	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Ttll7	T	A	3: 146,685,413 (GRCm39)	F882L	probably benign	Het
Usp2	TGTGACCTGTTCTTCACTTAC	TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC	9: 44,000,406 (GRCm39)		probably benign	Het
Utp18	A	G	11: 93,776,287 (GRCm39)	L66P	probably damaging	Het
Wnt7a	C	T	6: 91,371,405 (GRCm39)	E186K	possibly damaging	Het
Zfp384	AGGCCCAGGCCC	AGGCCCAGGCCCCGGCCCAGGCCC	6: 125,013,444 (GRCm39)		probably benign	Het
Zgrf1	A	G	3: 127,356,882 (GRCm39)	I703V	probably benign	Het
Zpld2	T	C	4: 133,920,338 (GRCm39)	H609R	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
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
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
Z1177:Slc26a8	UTSW	17	28,857,139 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCATTTTGCAGTCACCTACCAAG -3'
(R):5'- GATGGACCTCAATCTGGACC -3'

Sequencing Primer
(F):5'- ACCAAGGATCCTTATTGTTTTAGGG -3'
(R):5'- CAATCTGGACCTAGACTTGGACTTG -3'

Posted On

2019-12-04