Mutagenetix > Incidental Mutation

Incidental Mutation 'R1401:Slco6d1'

160084

Institutional Source

Beutler Lab

Gene Symbol

Slco6d1

Ensembl Gene

ENSMUSG00000026336

Gene Name

solute carrier organic anion transporter family, member 6d1

Synonyms

4921511I05Rik

MMRRC Submission

039463-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98348849-98444716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98418341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 509 (G509D)

Ref Sequence

ENSEMBL: ENSMUSP00000123850 (fasta)

Gene Model

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

AlphaFold

Q9D5W6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027575
AA Change: G509D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: G509D

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 damaging
Transcript: ENSMUST00000160796
AA Change: G509D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: G509D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abcg1	T	A	17: 31,333,132 (GRCm39)	I625N	possibly damaging	Het
Adam33	C	A	2: 130,893,391 (GRCm39)		probably benign	Het
Adgrl2	A	T	3: 148,528,617 (GRCm39)	I1185N	probably damaging	Het
Afp	A	T	5: 90,649,486 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,501,356 (GRCm39)	V342A	probably benign	Het
Ankrd11	A	T	8: 123,619,789 (GRCm39)	S1333R	probably benign	Het
Arhgef11	C	A	3: 87,640,776 (GRCm39)	S1311*	probably null	Het
Atp6v1g1	T	C	4: 63,466,878 (GRCm39)	Y47H	probably benign	Het
Atp8b4	T	C	2: 126,165,013 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,770,327 (GRCm39)	L67P	probably damaging	Het
Bbs7	G	A	3: 36,627,706 (GRCm39)	P694S	probably benign	Het
Btbd10	A	T	7: 112,946,266 (GRCm39)	V33E	probably benign	Het
C2	T	C	17: 35,091,457 (GRCm39)	T69A	possibly damaging	Het
C8b	T	G	4: 104,641,679 (GRCm39)	L205R	possibly damaging	Het
Cct4	T	G	11: 22,944,333 (GRCm39)	N72K	probably damaging	Het
Cd300lg	C	A	11: 101,944,981 (GRCm39)	P353H	possibly damaging	Het
Cdh20	A	T	1: 104,875,222 (GRCm39)	I335L	possibly damaging	Het
Cfhr2	T	A	1: 139,738,757 (GRCm39)	H268L	probably benign	Het
Chia1	T	A	3: 106,036,255 (GRCm39)	D278E	probably benign	Het
Cntn6	A	G	6: 104,781,359 (GRCm39)	T482A	possibly damaging	Het
Cst13	T	A	2: 148,665,016 (GRCm39)	F4I	probably benign	Het
Ctsc	T	A	7: 87,930,706 (GRCm39)	V95E	probably damaging	Het
Ddhd1	A	T	14: 45,842,508 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,322,712 (GRCm39)		probably null	Het
Dnah5	A	C	15: 28,402,059 (GRCm39)	T3407P	probably damaging	Het
Dock1	T	A	7: 134,735,665 (GRCm39)	Y1344*	probably null	Het
Eif4g3	T	C	4: 137,933,395 (GRCm39)	V1740A	probably damaging	Het
Epb41l5	A	G	1: 119,506,634 (GRCm39)		probably benign	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fnbp1l	C	T	3: 122,339,955 (GRCm39)	R499Q	probably damaging	Het
Gm10033	T	C	8: 69,826,022 (GRCm39)		noncoding transcript	Het
Gm12790	A	G	4: 101,825,396 (GRCm39)	L6P	probably benign	Het
Gramd4	A	G	15: 86,009,397 (GRCm39)	D210G	probably damaging	Het
Hectd3	T	C	4: 116,859,466 (GRCm39)	S697P	possibly damaging	Het
Hsf4	T	C	8: 106,002,235 (GRCm39)	V399A	probably benign	Het
Hyal6	T	A	6: 24,743,434 (GRCm39)	C377S	probably damaging	Het
Myb	C	T	10: 21,028,844 (GRCm39)	V85M	probably damaging	Het
Mypn	A	G	10: 62,988,636 (GRCm39)	V463A	probably damaging	Het
Nav1	T	A	1: 135,388,163 (GRCm39)	I1144L	probably benign	Het
Nckap5	A	G	1: 125,942,398 (GRCm39)		probably benign	Het
Nipbl	A	T	15: 8,401,657 (GRCm39)	S30T	probably damaging	Het
Nmt1	T	C	11: 102,948,307 (GRCm39)	F277S	probably damaging	Het
Nploc4	A	C	11: 120,274,115 (GRCm39)		probably benign	Het
Nup54	C	A	5: 92,576,080 (GRCm39)	R137I	probably damaging	Het
Or52n2b	T	C	7: 104,565,963 (GRCm39)	Y180C	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pkd1l1	G	T	11: 8,804,487 (GRCm39)	Y1701*	probably null	Het
Plekhg6	T	C	6: 125,340,072 (GRCm39)	T763A	probably damaging	Het
Pmepa1	C	T	2: 173,070,368 (GRCm39)		probably null	Het
Ppfia2	A	G	10: 106,666,518 (GRCm39)	E408G	possibly damaging	Het
Pramel13	G	A	4: 144,121,658 (GRCm39)	T122M	probably benign	Het
Prl8a2	G	A	13: 27,537,979 (GRCm39)	V218I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Shisal2b	A	T	13: 105,000,113 (GRCm39)	C37S	probably damaging	Het
Slc13a1	A	T	6: 24,118,082 (GRCm39)		probably null	Het
Slc17a8	T	A	10: 89,427,076 (GRCm39)	T342S	probably damaging	Het
Slc30a9	A	G	5: 67,510,005 (GRCm39)	E519G	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc39a5	G	A	10: 128,233,610 (GRCm39)	L296F	probably damaging	Het
Slco6b1	A	C	1: 96,857,610 (GRCm39)		noncoding transcript	Het
Spen	A	G	4: 141,199,132 (GRCm39)	V3142A	probably damaging	Het
Spta1	T	A	1: 174,050,250 (GRCm39)	H1763Q	probably damaging	Het
Srcap	T	C	7: 127,159,124 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,543,328 (GRCm39)		probably benign	Het
Stat4	A	G	1: 52,111,106 (GRCm39)		probably benign	Het
Svbp	T	A	4: 119,053,225 (GRCm39)		probably benign	Het
Tm2d1	A	T	4: 98,258,833 (GRCm39)		probably benign	Het
Trpv1	C	A	11: 73,130,952 (GRCm39)		probably null	Het
Trrap	A	G	5: 144,794,232 (GRCm39)	D3713G	possibly damaging	Het
Ubr1	T	A	2: 120,786,125 (GRCm39)	D165V	probably benign	Het
Utrn	C	A	10: 12,524,897 (GRCm39)	M2195I	probably benign	Het
Vmn1r229	G	A	17: 21,034,904 (GRCm39)	V50I	possibly damaging	Het
Vmn1r44	A	T	6: 89,870,632 (GRCm39)	H126L	probably benign	Het
Vmn2r116	T	C	17: 23,605,570 (GRCm39)		probably benign	Het
Vmn2r27	A	C	6: 124,168,591 (GRCm39)	Y846*	probably null	Het
Vmn2r84	T	A	10: 130,227,859 (GRCm39)	S126C	possibly damaging	Het
Xylb	T	A	9: 119,197,133 (GRCm39)		probably benign	Het
Zfp282	A	T	6: 47,867,108 (GRCm39)	K232*	probably null	Het
Zfp39	C	A	11: 58,781,149 (GRCm39)	V538L	probably benign	Het
Zfp560	T	C	9: 20,263,149 (GRCm39)	N76D	possibly damaging	Het
Zmym4	C	T	4: 126,804,962 (GRCm39)	V433I	probably benign	Het
Zscan5b	A	G	7: 6,233,425 (GRCm39)	E83G	probably damaging	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
IGL00678:Slco6d1	APN	1	98,424,069 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- cagagggaaaccagaagGCTCAAAA -3'
(R):5'- ACAGGATAGCATGGGGCAACTCTTA -3'

Sequencing Primer
(F):5'- TTATAAAATCCCAACAGATGAACAGG -3'
(R):5'- GATCAAAGTTCAGTGAATGCTGATG -3'

Posted On

2014-03-14