Mutagenetix > Incidental Mutations

Incidental Mutation 'R4429:Slco6d1'

328303

Institutional Source

Beutler Lab

Gene Symbol

Slco6d1

Ensembl Gene

ENSMUSG00000026336

Gene Name

solute carrier organic anion transporter family, member 6d1

Synonyms

4921511I05Rik

MMRRC Submission

041699-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98421124-98516991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98496366 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 581 (V581A)

Ref Sequence

ENSEMBL: ENSMUSP00000123850 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027575
AA Change: V581A

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: V581A

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

possibly damaging
Transcript: ENSMUST00000160796
AA Change: V581A

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: V581A

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Abca5	T	C	11: 110,311,410	T390A	probably benign	Het
Ahcyl2	T	G	6: 29,894,875	V452G	probably damaging	Het
Ano4	T	A	10: 88,992,942	N545I	probably damaging	Het
Bag4	C	T	8: 25,769,488	A228T	probably benign	Het
Catip	T	A	1: 74,368,732		probably benign	Het
Chrna4	A	G	2: 181,028,620	S448P	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Cnpy3	T	A	17: 46,747,144	Q111L	probably benign	Het
Dnah8	A	G	17: 30,752,146	N2725D	probably damaging	Het
Dock8	T	C	19: 25,065,390	V112A	probably benign	Het
Ephb3	G	A	16: 21,214,463	E66K	probably damaging	Het
Gm6594	T	A	17: 82,539,494	D79E	probably benign	Het
Gtf2e2	T	A	8: 33,752,493	Y74*	probably null	Het
Hacd4	A	T	4: 88,434,947	F103I	possibly damaging	Het
Hap1	T	C	11: 100,354,272	T38A	probably benign	Het
Havcr2	T	A	11: 46,456,560	D72E	probably damaging	Het
Iqcg	G	A	16: 33,019,490	T362I	probably benign	Het
Lect2	C	T	13: 56,545,725		probably null	Het
Lemd3	T	C	10: 120,977,988	T447A	probably benign	Het
Lrrc72	T	C	12: 36,208,624	N78S	probably damaging	Het
Map3k14	A	G	11: 103,227,584	L592P	probably damaging	Het
Meioc	T	C	11: 102,675,720	Y721H	probably damaging	Het
Mrps10	T	A	17: 47,378,199		probably null	Het
Myo5c	A	G	9: 75,294,001	Y1406C	probably damaging	Het
Myo7a	T	C	7: 98,053,188	Y2098C	probably damaging	Het
Nol9	C	T	4: 152,041,174	T194I	probably damaging	Het
Nox3	G	A	17: 3,682,958	T206I	probably benign	Het
Nsd2	T	G	5: 33,843,202	M21R	probably damaging	Het
Pcdh9	T	C	14: 93,887,384	N327S	probably damaging	Het
Pclo	T	G	5: 14,678,100		probably benign	Het
Pparg	T	A	6: 115,440,023	M59K	probably benign	Het
Prag1	A	G	8: 36,146,642	K1116R	probably damaging	Het
Rhbdf1	C	T	11: 32,213,369	E368K	probably benign	Het
Rita1	A	G	5: 120,609,561	V224A	probably damaging	Het
Rsph6a	T	A	7: 19,074,063	W384R	probably damaging	Het
Scn1a	A	T	2: 66,350,985	Y65N	possibly damaging	Het
Serpina5	C	A	12: 104,103,406	F292L	probably benign	Het
Sf3b3	A	C	8: 110,826,118	L511V	probably benign	Het
Siglecg	C	T	7: 43,417,926	P639L	possibly damaging	Het
Slc12a3	A	T	8: 94,343,085	I541F	probably damaging	Het
Sptbn2	T	C	19: 4,738,355	Y1121H	probably damaging	Het
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Timm29	G	C	9: 21,593,479	A148P	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Uba6	C	T	5: 86,120,547	V941I	probably damaging	Het
Vmn1r174	T	C	7: 23,754,140	V77A	probably benign	Het
Zfp661	A	G	2: 127,578,708	V57A	probably damaging	Het
Zfp867	C	T	11: 59,465,037	D64N	possibly damaging	Het
Zp3r	T	C	1: 130,591,391	T294A	possibly damaging	Het

Other mutations in Slco6d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slco6d1	APN	1	98432230	splice site	probably null
IGL00678:Slco6d1	APN	1	98496344	missense	probably benign	0.01
IGL00790:Slco6d1	APN	1	98421200	utr 5 prime	probably benign
IGL01694:Slco6d1	APN	1	98499845	missense	probably damaging	1.00
IGL02003:Slco6d1	APN	1	98480768	missense	probably damaging	1.00
IGL02059:Slco6d1	APN	1	98446806	missense	possibly damaging	0.95
IGL02085:Slco6d1	APN	1	98443743	missense	probably damaging	1.00
IGL02683:Slco6d1	APN	1	98480672	missense	probably benign	0.05
IGL02736:Slco6d1	APN	1	98428311	missense	possibly damaging	0.55
IGL03279:Slco6d1	APN	1	98466680	missense	probably damaging	1.00
PIT4581001:Slco6d1	UTSW	1	98423325	missense	possibly damaging	0.46
R0326:Slco6d1	UTSW	1	98490634	missense	probably benign	0.02
R0359:Slco6d1	UTSW	1	98466697	missense	probably benign	0.21
R0554:Slco6d1	UTSW	1	98466697	missense	probably benign	0.21
R0589:Slco6d1	UTSW	1	98499747	splice site	probably benign
R0733:Slco6d1	UTSW	1	98428269	nonsense	probably null
R0883:Slco6d1	UTSW	1	98421399	missense	probably benign	0.00
R1316:Slco6d1	UTSW	1	98466793	missense	probably benign	0.02
R1370:Slco6d1	UTSW	1	98423094	missense	probably benign	0.01
R1401:Slco6d1	UTSW	1	98490616	missense	probably damaging	1.00
R1691:Slco6d1	UTSW	1	98507567	missense	probably benign	0.34
R1740:Slco6d1	UTSW	1	98428372	missense	probably damaging	1.00
R1767:Slco6d1	UTSW	1	98490549	missense	possibly damaging	0.90
R1827:Slco6d1	UTSW	1	98421216	missense	probably damaging	0.96
R2138:Slco6d1	UTSW	1	98443660	missense	probably benign	0.19
R2849:Slco6d1	UTSW	1	98466716	missense	probably benign	0.02
R3753:Slco6d1	UTSW	1	98499777	missense	probably damaging	0.99
R4066:Slco6d1	UTSW	1	98463846	critical splice acceptor site	probably benign
R4480:Slco6d1	UTSW	1	98507574	nonsense	probably null
R4656:Slco6d1	UTSW	1	98423203	missense	probably benign	0.06
R4810:Slco6d1	UTSW	1	98423254	missense	possibly damaging	0.83
R4814:Slco6d1	UTSW	1	98423174	missense	probably benign	0.15
R5389:Slco6d1	UTSW	1	98443644	missense	probably benign	0.00
R5504:Slco6d1	UTSW	1	98421339	missense	probably damaging	0.99
R5619:Slco6d1	UTSW	1	98496222	missense	probably damaging	1.00
R5688:Slco6d1	UTSW	1	98480768	missense	probably damaging	1.00
R5820:Slco6d1	UTSW	1	98499778	missense	probably damaging	0.97
R5878:Slco6d1	UTSW	1	98463836	splice site	probably benign
R6261:Slco6d1	UTSW	1	98499863	missense	probably benign	0.10
R6450:Slco6d1	UTSW	1	98421467	missense	probably benign	0.29
R6452:Slco6d1	UTSW	1	98421212	missense	probably benign	0.44
R7338:Slco6d1	UTSW	1	98421372	missense	probably benign	0.11
R7375:Slco6d1	UTSW	1	98421447	missense	probably damaging	1.00
R7456:Slco6d1	UTSW	1	98421357	missense	possibly damaging	0.66
R7567:Slco6d1	UTSW	1	98497527	missense	probably damaging	1.00
R7729:Slco6d1	UTSW	1	98497523	missense	probably damaging	0.98

Predicted Primers

Posted On

2015-07-07