Mutagenetix > Incidental Mutation

Incidental Mutation 'R1370:Slco6d1'

155915

Institutional Source

Beutler Lab

Gene Symbol

Slco6d1

Ensembl Gene

ENSMUSG00000026336

Gene Name

solute carrier organic anion transporter family, member 6d1

Synonyms

4921511I05Rik

MMRRC Submission

039434-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1370 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98421124-98516991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 98423094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 100 (I100L)

Ref Sequence

ENSEMBL: ENSMUSP00000027575 (fasta)

Gene Model

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

AlphaFold

Q9D5W6

Predicted Effect

probably benign
Transcript: ENSMUST00000027575
AA Change: I100L

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

SMART Domains

Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: I100L

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: I100L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: I100L

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

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052 (GRCm38)	G495D	probably damaging	Het
Adgra3	T	C	5: 49,960,787 (GRCm38)	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,227,770 (GRCm38)		probably null	Het
Afap1	A	G	5: 35,935,600 (GRCm38)	D16G	unknown	Het
AI593442	T	C	9: 52,678,008 (GRCm38)	K90E	probably damaging	Het
Aicda	A	T	6: 122,561,185 (GRCm38)	N101Y	probably benign	Het
Alx1	A	G	10: 103,028,492 (GRCm38)	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,388,696 (GRCm38)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912 (GRCm38)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655 (GRCm38)	W14*	probably null	Het
Bin1	A	G	18: 32,429,703 (GRCm38)	I416V	probably benign	Het
Bptf	A	T	11: 107,047,094 (GRCm38)	S2724T	probably damaging	Het
Brf1	A	T	12: 112,961,108 (GRCm38)		probably null	Het
Ccdc39	T	C	3: 33,826,480 (GRCm38)	K446R	probably damaging	Het
Cd226	T	A	18: 89,247,023 (GRCm38)	S29T	probably benign	Het
Cdan1	A	G	2: 120,719,139 (GRCm38)		probably null	Het
Chaf1a	A	T	17: 56,064,032 (GRCm38)	H639L	probably benign	Het
Chd1	G	A	17: 17,387,480 (GRCm38)	G430D	probably benign	Het
Clca3a2	T	C	3: 144,813,863 (GRCm38)		probably benign	Het
Clptm1	A	G	7: 19,633,872 (GRCm38)	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,471,452 (GRCm38)	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,692,658 (GRCm38)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956 (GRCm38)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854 (GRCm38)		probably benign	Het
Dennd4c	T	A	4: 86,811,510 (GRCm38)	I783N	probably damaging	Het
Dock10	A	G	1: 80,540,343 (GRCm38)	S1305P	probably damaging	Het
Eml6	T	G	11: 29,833,085 (GRCm38)	S599R	probably benign	Het
Gbp8	C	T	5: 105,016,576 (GRCm38)	A394T	possibly damaging	Het
Gm13023	T	A	4: 143,795,304 (GRCm38)	L497I	possibly damaging	Het
H1fx	A	G	6: 87,981,151 (GRCm38)	I69T	probably damaging	Het
Herc2	T	A	7: 56,168,873 (GRCm38)	C2771S	probably benign	Het
Ism1	A	T	2: 139,732,074 (GRCm38)	I115F	possibly damaging	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itgb8	C	T	12: 119,171,003 (GRCm38)	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584 (GRCm38)	I1274F	possibly damaging	Het
Klk11	A	G	7: 43,776,907 (GRCm38)	I22V	probably benign	Het
Krt6b	T	C	15: 101,677,552 (GRCm38)	D362G	probably damaging	Het
Lce1e	A	G	3: 92,707,843 (GRCm38)	S66P	unknown	Het
Letm1	A	T	5: 33,778,682 (GRCm38)		probably null	Het
Lrrcc1	G	T	3: 14,548,114 (GRCm38)	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420 (GRCm38)		probably null	Het
Mrpl12	A	G	11: 120,485,301 (GRCm38)	S46G	probably benign	Het
Narfl	A	G	17: 25,776,988 (GRCm38)	E62G	probably benign	Het
Ndrg3	T	C	2: 156,938,650 (GRCm38)	E198G	probably damaging	Het
Olfr198	A	G	16: 59,201,680 (GRCm38)	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,468,301 (GRCm38)	I521T	probably benign	Het
Pdzph1	T	C	17: 58,974,087 (GRCm38)	D400G	possibly damaging	Het
Per2	A	T	1: 91,445,557 (GRCm38)	S170T	possibly damaging	Het
Pros1	A	G	16: 62,919,558 (GRCm38)	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624 (GRCm38)	M156L	probably benign	Het
Rerg	A	T	6: 137,057,801 (GRCm38)		probably benign	Het
Sel1l3	G	T	5: 53,200,217 (GRCm38)	H144Q	possibly damaging	Het
Sept2	G	T	1: 93,499,106 (GRCm38)	V146L	probably damaging	Het
Setd1b	C	T	5: 123,160,685 (GRCm38)		probably benign	Het
Sh3bp4	A	T	1: 89,143,772 (GRCm38)	Y114F	probably benign	Het
Slc44a5	C	A	3: 154,243,159 (GRCm38)	T188K	probably benign	Het
Slfn4	G	T	11: 83,188,806 (GRCm38)	D441Y	probably damaging	Het
Smg1	T	C	7: 118,159,752 (GRCm38)		probably benign	Het
Snrpb2	A	G	2: 143,065,166 (GRCm38)		probably benign	Het
Sspo	T	A	6: 48,448,626 (GRCm38)	S60R	probably benign	Het
Stard9	T	C	2: 120,697,477 (GRCm38)	V1405A	probably benign	Het
Syt1	A	G	10: 108,690,922 (GRCm38)	L42P	probably damaging	Het
Tarbp1	T	C	8: 126,448,330 (GRCm38)	D789G	probably benign	Het
Tbcel	A	T	9: 42,450,062 (GRCm38)	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,458,054 (GRCm38)		probably benign	Het
Tiam1	A	T	16: 89,898,221 (GRCm38)	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,437,664 (GRCm38)		probably benign	Het
Tsga10	G	T	1: 37,835,453 (GRCm38)	T117K	probably damaging	Het
Ttc3	A	G	16: 94,418,637 (GRCm38)	S492G	possibly damaging	Het
Ttn	G	T	2: 76,847,151 (GRCm38)		probably benign	Het
Wasf3	T	C	5: 146,470,208 (GRCm38)		probably benign	Het
Zbtb37	C	T	1: 161,032,022 (GRCm38)	E238K	probably benign	Het
Zfp354c	A	G	11: 50,815,840 (GRCm38)	I136T	probably benign	Het
Zfp384	G	A	6: 125,036,453 (GRCm38)	A479T	probably benign	Het
Zfp646	T	A	7: 127,879,864 (GRCm38)	N404K	probably damaging	Het

Other mutations in Slco6d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slco6d1	APN	1	98,432,230 (GRCm38)	splice site	probably null
IGL00678:Slco6d1	APN	1	98,496,344 (GRCm38)	missense	probably benign	0.01
IGL00790:Slco6d1	APN	1	98,421,200 (GRCm38)	utr 5 prime	probably benign
IGL01694:Slco6d1	APN	1	98,499,845 (GRCm38)	missense	probably damaging	1.00
IGL02003:Slco6d1	APN	1	98,480,768 (GRCm38)	missense	probably damaging	1.00
IGL02059:Slco6d1	APN	1	98,446,806 (GRCm38)	missense	possibly damaging	0.95
IGL02085:Slco6d1	APN	1	98,443,743 (GRCm38)	missense	probably damaging	1.00
IGL02683:Slco6d1	APN	1	98,480,672 (GRCm38)	missense	probably benign	0.05
IGL02736:Slco6d1	APN	1	98,428,311 (GRCm38)	missense	possibly damaging	0.55
IGL03279:Slco6d1	APN	1	98,466,680 (GRCm38)	missense	probably damaging	1.00
BB008:Slco6d1	UTSW	1	98,428,416 (GRCm38)	missense	probably damaging	1.00
BB018:Slco6d1	UTSW	1	98,428,416 (GRCm38)	missense	probably damaging	1.00
PIT4581001:Slco6d1	UTSW	1	98,423,325 (GRCm38)	missense	possibly damaging	0.46
R0326:Slco6d1	UTSW	1	98,490,634 (GRCm38)	missense	probably benign	0.02
R0359:Slco6d1	UTSW	1	98,466,697 (GRCm38)	missense	probably benign	0.21
R0554:Slco6d1	UTSW	1	98,466,697 (GRCm38)	missense	probably benign	0.21
R0589:Slco6d1	UTSW	1	98,499,747 (GRCm38)	splice site	probably benign
R0733:Slco6d1	UTSW	1	98,428,269 (GRCm38)	nonsense	probably null
R0883:Slco6d1	UTSW	1	98,421,399 (GRCm38)	missense	probably benign	0.00
R1316:Slco6d1	UTSW	1	98,466,793 (GRCm38)	missense	probably benign	0.02
R1401:Slco6d1	UTSW	1	98,490,616 (GRCm38)	missense	probably damaging	1.00
R1691:Slco6d1	UTSW	1	98,507,567 (GRCm38)	missense	probably benign	0.34
R1740:Slco6d1	UTSW	1	98,428,372 (GRCm38)	missense	probably damaging	1.00
R1767:Slco6d1	UTSW	1	98,490,549 (GRCm38)	missense	possibly damaging	0.90
R1827:Slco6d1	UTSW	1	98,421,216 (GRCm38)	missense	probably damaging	0.96
R2138:Slco6d1	UTSW	1	98,443,660 (GRCm38)	missense	probably benign	0.19
R2849:Slco6d1	UTSW	1	98,466,716 (GRCm38)	missense	probably benign	0.02
R3753:Slco6d1	UTSW	1	98,499,777 (GRCm38)	missense	probably damaging	0.99
R4066:Slco6d1	UTSW	1	98,463,846 (GRCm38)	critical splice acceptor site	probably benign
R4429:Slco6d1	UTSW	1	98,496,366 (GRCm38)	missense	possibly damaging	0.66
R4480:Slco6d1	UTSW	1	98,507,574 (GRCm38)	nonsense	probably null
R4656:Slco6d1	UTSW	1	98,423,203 (GRCm38)	missense	probably benign	0.06
R4810:Slco6d1	UTSW	1	98,423,254 (GRCm38)	missense	possibly damaging	0.83
R4814:Slco6d1	UTSW	1	98,423,174 (GRCm38)	missense	probably benign	0.15
R5389:Slco6d1	UTSW	1	98,443,644 (GRCm38)	missense	probably benign	0.00
R5504:Slco6d1	UTSW	1	98,421,339 (GRCm38)	missense	probably damaging	0.99
R5619:Slco6d1	UTSW	1	98,496,222 (GRCm38)	missense	probably damaging	1.00
R5688:Slco6d1	UTSW	1	98,480,768 (GRCm38)	missense	probably damaging	1.00
R5820:Slco6d1	UTSW	1	98,499,778 (GRCm38)	missense	probably damaging	0.97
R5878:Slco6d1	UTSW	1	98,463,836 (GRCm38)	splice site	probably benign
R6261:Slco6d1	UTSW	1	98,499,863 (GRCm38)	missense	probably benign	0.10
R6450:Slco6d1	UTSW	1	98,421,467 (GRCm38)	missense	probably benign	0.29
R6452:Slco6d1	UTSW	1	98,421,212 (GRCm38)	missense	probably benign	0.44
R7338:Slco6d1	UTSW	1	98,421,372 (GRCm38)	missense	probably benign	0.11
R7375:Slco6d1	UTSW	1	98,421,447 (GRCm38)	missense	probably damaging	1.00
R7456:Slco6d1	UTSW	1	98,421,357 (GRCm38)	missense	possibly damaging	0.66
R7567:Slco6d1	UTSW	1	98,497,527 (GRCm38)	missense	probably damaging	1.00
R7729:Slco6d1	UTSW	1	98,497,523 (GRCm38)	missense	probably damaging	0.98
R7931:Slco6d1	UTSW	1	98,428,416 (GRCm38)	missense	probably damaging	1.00
R8088:Slco6d1	UTSW	1	98,466,706 (GRCm38)	missense	possibly damaging	0.75
R9021:Slco6d1	UTSW	1	98,443,671 (GRCm38)	missense	probably benign	0.18
R9080:Slco6d1	UTSW	1	98,421,258 (GRCm38)	missense	probably benign	0.01
R9123:Slco6d1	UTSW	1	98,496,194 (GRCm38)	missense	probably damaging	1.00
R9310:Slco6d1	UTSW	1	98,499,894 (GRCm38)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- GCAATGACATGTGATCCTGCCACT -3'
(R):5'- AGCTGCCACCCAATTTGCTCTATTT -3'

Sequencing Primer
(F):5'- GGTTATACTTTGAAATCCAACCTGG -3'
(R):5'- ATTTCCTCTACCTCCAAAGTGTG -3'

Posted On

2014-02-11