Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00678:Slco6d1'

14134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco6d1

Ensembl Gene

ENSMUSG00000026336

Gene Name

solute carrier organic anion transporter family, member 6d1

Synonyms

4921511I05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL00678

Quality Score

Status

Chromosome

Chromosomal Location

98348849-98444716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98424069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 574 (S574G)

Ref Sequence

ENSEMBL: ENSMUSP00000123850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027575] [ENSMUST00000160796] [ENSMUST00000162468]

AlphaFold

Q9D5W6

Predicted Effect

probably benign
Transcript: ENSMUST00000027575
AA Change: S574G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: S574G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	86	463	1.8e-13	PFAM
KAZAL	483	527	2.3e0	SMART
low complexity region	558	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160796
AA Change: S574G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: S574G

Domain	Start	End	E-Value	Type
Pfam:MFS_1	86	463	2.4e-13	PFAM
KAZAL	483	527	2.3e0	SMART
low complexity region	558	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162468

SMART Domains

Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336

Domain	Start	End	E-Value	Type
Pfam:OATP	64	313	2.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162782

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz2b	T	C	2: 59,836,527 (GRCm39)	E2G	unknown	Het
Bbs2	T	A	8: 94,815,795 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,299,237 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,472,521 (GRCm39)	I477N	possibly damaging	Het
Dtl	A	C	1: 191,278,738 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 63,992,427 (GRCm39)	V292E	probably damaging	Het
Eri3	A	G	4: 117,422,088 (GRCm39)	H122R	probably benign	Het
Glrx3	T	A	7: 137,054,442 (GRCm39)	V75D	probably damaging	Het
Ifi213	A	G	1: 173,421,619 (GRCm39)		probably benign	Het
Ppp1cb	T	A	5: 32,642,682 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,309 (GRCm39)	T66A	probably damaging	Het
Tas2r136	A	T	6: 132,754,161 (GRCm39)	L322Q	probably damaging	Het
Tead1	A	G	7: 112,441,087 (GRCm39)		probably null	Het
Tsfm	G	A	10: 126,864,311 (GRCm39)	Q135*	probably null	Het

Other mutations in Slco6d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slco6d1	APN	1	98,359,955 (GRCm39)	splice site	probably null
IGL00790:Slco6d1	APN	1	98,348,925 (GRCm39)	utr 5 prime	probably benign
IGL01694:Slco6d1	APN	1	98,427,570 (GRCm39)	missense	probably damaging	1.00
IGL02003:Slco6d1	APN	1	98,408,493 (GRCm39)	missense	probably damaging	1.00
IGL02059:Slco6d1	APN	1	98,374,531 (GRCm39)	missense	possibly damaging	0.95
IGL02085:Slco6d1	APN	1	98,371,468 (GRCm39)	missense	probably damaging	1.00
IGL02683:Slco6d1	APN	1	98,408,397 (GRCm39)	missense	probably benign	0.05
IGL02736:Slco6d1	APN	1	98,356,036 (GRCm39)	missense	possibly damaging	0.55
IGL03279:Slco6d1	APN	1	98,394,405 (GRCm39)	missense	probably damaging	1.00
BB008:Slco6d1	UTSW	1	98,356,141 (GRCm39)	missense	probably damaging	1.00
BB018:Slco6d1	UTSW	1	98,356,141 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Slco6d1	UTSW	1	98,351,050 (GRCm39)	missense	possibly damaging	0.46
R0326:Slco6d1	UTSW	1	98,418,359 (GRCm39)	missense	probably benign	0.02
R0359:Slco6d1	UTSW	1	98,394,422 (GRCm39)	missense	probably benign	0.21
R0554:Slco6d1	UTSW	1	98,394,422 (GRCm39)	missense	probably benign	0.21
R0589:Slco6d1	UTSW	1	98,427,472 (GRCm39)	splice site	probably benign
R0733:Slco6d1	UTSW	1	98,355,994 (GRCm39)	nonsense	probably null
R0883:Slco6d1	UTSW	1	98,349,124 (GRCm39)	missense	probably benign	0.00
R1316:Slco6d1	UTSW	1	98,394,518 (GRCm39)	missense	probably benign	0.02
R1370:Slco6d1	UTSW	1	98,350,819 (GRCm39)	missense	probably benign	0.01
R1401:Slco6d1	UTSW	1	98,418,341 (GRCm39)	missense	probably damaging	1.00
R1691:Slco6d1	UTSW	1	98,435,292 (GRCm39)	missense	probably benign	0.34
R1740:Slco6d1	UTSW	1	98,356,097 (GRCm39)	missense	probably damaging	1.00
R1767:Slco6d1	UTSW	1	98,418,274 (GRCm39)	missense	possibly damaging	0.90
R1827:Slco6d1	UTSW	1	98,348,941 (GRCm39)	missense	probably damaging	0.96
R2138:Slco6d1	UTSW	1	98,371,385 (GRCm39)	missense	probably benign	0.19
R2849:Slco6d1	UTSW	1	98,394,441 (GRCm39)	missense	probably benign	0.02
R3753:Slco6d1	UTSW	1	98,427,502 (GRCm39)	missense	probably damaging	0.99
R4066:Slco6d1	UTSW	1	98,391,571 (GRCm39)	critical splice acceptor site	probably benign
R4429:Slco6d1	UTSW	1	98,424,091 (GRCm39)	missense	possibly damaging	0.66
R4480:Slco6d1	UTSW	1	98,435,299 (GRCm39)	nonsense	probably null
R4656:Slco6d1	UTSW	1	98,350,928 (GRCm39)	missense	probably benign	0.06
R4810:Slco6d1	UTSW	1	98,350,979 (GRCm39)	missense	possibly damaging	0.83
R4814:Slco6d1	UTSW	1	98,350,899 (GRCm39)	missense	probably benign	0.15
R5389:Slco6d1	UTSW	1	98,371,369 (GRCm39)	missense	probably benign	0.00
R5504:Slco6d1	UTSW	1	98,349,064 (GRCm39)	missense	probably damaging	0.99
R5619:Slco6d1	UTSW	1	98,423,947 (GRCm39)	missense	probably damaging	1.00
R5688:Slco6d1	UTSW	1	98,408,493 (GRCm39)	missense	probably damaging	1.00
R5820:Slco6d1	UTSW	1	98,427,503 (GRCm39)	missense	probably damaging	0.97
R5878:Slco6d1	UTSW	1	98,391,561 (GRCm39)	splice site	probably benign
R6261:Slco6d1	UTSW	1	98,427,588 (GRCm39)	missense	probably benign	0.10
R6450:Slco6d1	UTSW	1	98,349,192 (GRCm39)	missense	probably benign	0.29
R6452:Slco6d1	UTSW	1	98,348,937 (GRCm39)	missense	probably benign	0.44
R7338:Slco6d1	UTSW	1	98,349,097 (GRCm39)	missense	probably benign	0.11
R7375:Slco6d1	UTSW	1	98,349,172 (GRCm39)	missense	probably damaging	1.00
R7456:Slco6d1	UTSW	1	98,349,082 (GRCm39)	missense	possibly damaging	0.66
R7567:Slco6d1	UTSW	1	98,425,252 (GRCm39)	missense	probably damaging	1.00
R7729:Slco6d1	UTSW	1	98,425,248 (GRCm39)	missense	probably damaging	0.98
R7931:Slco6d1	UTSW	1	98,356,141 (GRCm39)	missense	probably damaging	1.00
R8088:Slco6d1	UTSW	1	98,394,431 (GRCm39)	missense	possibly damaging	0.75
R9021:Slco6d1	UTSW	1	98,371,396 (GRCm39)	missense	probably benign	0.18
R9080:Slco6d1	UTSW	1	98,348,983 (GRCm39)	missense	probably benign	0.01
R9123:Slco6d1	UTSW	1	98,423,919 (GRCm39)	missense	probably damaging	1.00
R9310:Slco6d1	UTSW	1	98,427,619 (GRCm39)	missense	possibly damaging	0.71

Posted On

2012-12-06