Mutagenetix > Incidental Mutation

Incidental Mutation 'R7305:Slco1a1'

567231

Institutional Source

Beutler Lab

Gene Symbol

Slco1a1

Ensembl Gene

ENSMUSG00000041698

Gene Name

solute carrier organic anion transporter family, member 1a1

Synonyms

Slc21a1, Oatp1a1, Oatp1

MMRRC Submission

045407-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R7305 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141853008-141892688 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141870223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 305 (F305Y)

Ref Sequence

ENSEMBL: ENSMUSP00000037022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042119] [ENSMUST00000168119]

AlphaFold

Q9QXZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000042119
AA Change: F305Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: F305Y

Domain	Start	End	E-Value	Type
Pfam:OATP	21	597	6e-168	PFAM
Pfam:MFS_1	22	410	4.7e-28	PFAM
Pfam:Kazal_2	445	486	1.2e-10	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168119
AA Change: F305Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: F305Y

Domain	Start	End	E-Value	Type
Pfam:OATP	21	597	1.6e-168	PFAM
Pfam:MFS_1	22	410	1e-27	PFAM
Pfam:Kazal_2	445	486	4.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	T	2: 181,135,209 (GRCm39)	D37V	possibly damaging	Het
Ankhd1	A	G	18: 36,765,258 (GRCm39)	D87G		Het
Ankrd31	A	G	13: 97,015,479 (GRCm39)	S1583G	probably damaging	Het
Ankub1	T	C	3: 57,599,938 (GRCm39)		probably benign	Het
Apba3	A	G	10: 81,107,067 (GRCm39)	D264G	probably damaging	Het
Armh3	A	T	19: 45,880,560 (GRCm39)	M508K	probably benign	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Cnot3	A	T	7: 3,648,479 (GRCm39)		probably benign	Het
Cxxc1	A	G	18: 74,352,467 (GRCm39)	Y349C	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,577,937 (GRCm39)		probably null	Het
Cyp3a57	A	G	5: 145,307,795 (GRCm39)	I184V	probably benign	Het
D130052B06Rik	GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG	GTCTACACTGTCCTG	11: 33,573,355 (GRCm39)		probably null	Het
Dab1	T	A	4: 104,570,987 (GRCm39)	D210E		Het
Elavl1	G	A	8: 4,375,199 (GRCm39)		probably benign	Het
Emilin1	C	T	5: 31,074,433 (GRCm39)	Q225*	probably null	Het
Eml6	G	T	11: 29,727,258 (GRCm39)	A1288E	probably benign	Het
Eno1	T	C	4: 150,329,796 (GRCm39)		probably null	Het
Eprs1	C	T	1: 185,111,898 (GRCm39)	R303C	probably damaging	Het
Eps15l1	G	A	8: 73,126,878 (GRCm39)	A651V	probably benign	Het
Etl4	A	T	2: 20,714,368 (GRCm39)	I156F	probably damaging	Het
Faim2	A	T	15: 99,411,814 (GRCm39)	I171N	probably damaging	Het
Fam135a	T	A	1: 24,069,939 (GRCm39)	N381I	probably damaging	Het
Fhip1a	G	T	3: 85,637,831 (GRCm39)	P156Q	probably damaging	Het
Gabrg3	T	A	7: 56,384,833 (GRCm39)	M243L	probably benign	Het
Garin2	A	G	12: 78,761,809 (GRCm39)	K158E	possibly damaging	Het
Gm5134	A	G	10: 75,836,233 (GRCm39)	I405V	probably damaging	Het
Gm9376	A	T	14: 118,504,768 (GRCm39)	K67*	probably null	Het
Grm8	A	T	6: 27,761,354 (GRCm39)	I290K	possibly damaging	Het
Hao1	T	A	2: 134,390,121 (GRCm39)	M73L	probably benign	Het
Herc1	A	G	9: 66,369,150 (GRCm39)	D452G		Het
Idh3b	C	A	2: 130,123,413 (GRCm39)	K192N	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,553 (GRCm39)	S63P	probably benign	Het
Itgb2	A	C	10: 77,384,398 (GRCm39)	D173A	probably damaging	Het
Jmjd8	A	T	17: 26,049,301 (GRCm39)	T255S	probably benign	Het
Lamc3	A	C	2: 31,820,714 (GRCm39)	E1243A	probably benign	Het
Map1a	A	G	2: 121,129,939 (GRCm39)	T252A	probably damaging	Het
Mrgpra1	C	A	7: 46,985,203 (GRCm39)	A159S	probably benign	Het
Ndst3	T	C	3: 123,395,131 (GRCm39)	I500V	possibly damaging	Het
Nhsl1	A	G	10: 18,407,434 (GRCm39)	T1523A	possibly damaging	Het
Nr2f1	A	G	13: 78,343,298 (GRCm39)	I322T	probably damaging	Het
Nup210	T	C	6: 91,064,948 (GRCm39)	E184G	probably damaging	Het
Obsl1	C	T	1: 75,470,590 (GRCm39)	W1022*	probably null	Het
Or2l13	T	A	16: 19,306,449 (GRCm39)	I287N	probably damaging	Het
Or4a77	T	A	2: 89,486,846 (GRCm39)	H313L	probably benign	Het
Or52p2	G	T	7: 102,237,162 (GRCm39)	Q263K	possibly damaging	Het
Or5p51	A	T	7: 107,444,572 (GRCm39)	Y123N	probably damaging	Het
Or6c1	A	T	10: 129,518,149 (GRCm39)	I153N	probably damaging	Het
Or6c65	T	A	10: 129,603,720 (GRCm39)	Y118*	probably null	Het
Otulinl	A	G	15: 27,658,319 (GRCm39)	C184R	probably benign	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Parp8	A	G	13: 117,031,461 (GRCm39)	L417P	possibly damaging	Het
Pdia6	A	G	12: 17,324,509 (GRCm39)	Q120R	probably benign	Het
Ppp3cc	T	C	14: 70,478,252 (GRCm39)	N290S	probably benign	Het
Prdm5	C	A	6: 65,808,244 (GRCm39)	S63R	possibly damaging	Het
Prr14l	T	C	5: 32,988,445 (GRCm39)	D350G	probably benign	Het
Pwwp2a	T	C	11: 43,607,878 (GRCm39)	L497S	probably damaging	Het
R3hdm2	A	G	10: 127,312,547 (GRCm39)	N430D	probably benign	Het
Rad51ap2	A	G	12: 11,507,344 (GRCm39)	N422S	possibly damaging	Het
Rbbp8	G	A	18: 11,805,638 (GRCm39)		probably null	Het
Rsf1	GGCGGCGGC	GGCGGCGGCAGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Slc22a6	G	A	19: 8,599,522 (GRCm39)		probably null	Het
Slc28a3	T	A	13: 58,714,045 (GRCm39)	E440V	possibly damaging	Het
Slc30a5	A	T	13: 100,947,932 (GRCm39)	I482K	probably damaging	Het
Slco1a8	G	A	6: 141,938,220 (GRCm39)	A253V	probably damaging	Het
Slco4c1	T	C	1: 96,756,690 (GRCm39)	N544S	probably damaging	Het
Smpd4	T	A	16: 17,459,647 (GRCm39)	I656N	probably damaging	Het
Spata31h1	A	T	10: 82,120,953 (GRCm39)	I4019K	probably benign	Het
Taok1	A	T	11: 77,432,500 (GRCm39)	L771*	probably null	Het
Tmem231	T	C	8: 112,641,927 (GRCm39)	D209G	possibly damaging	Het
Tmem25	A	G	9: 44,706,705 (GRCm39)		probably null	Het
Tmem79	T	C	3: 88,240,718 (GRCm39)	T77A	probably benign	Het
Topbp1	A	T	9: 103,205,836 (GRCm39)	T825S	probably damaging	Het
Trpm6	A	T	19: 18,853,455 (GRCm39)	Q1825L	probably benign	Het
Uba1y	T	A	Y: 821,348 (GRCm39)	D110E	probably damaging	Het
Utrn	A	T	10: 12,261,280 (GRCm39)	N3422K	probably benign	Het
Vmn1r219	A	T	13: 23,347,314 (GRCm39)	M168L	probably benign	Het
Vmn2r62	T	C	7: 42,414,235 (GRCm39)	H736R	possibly damaging	Het
Wdr1	T	C	5: 38,697,435 (GRCm39)	H291R	possibly damaging	Het
Zan	T	C	5: 137,413,401 (GRCm39)	T3177A	unknown	Het
Zbtb21	T	C	16: 97,752,495 (GRCm39)	H596R	possibly damaging	Het

Other mutations in Slco1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slco1a1	APN	6	141,854,851 (GRCm39)	missense	probably damaging	0.98
IGL00942:Slco1a1	APN	6	141,892,354 (GRCm39)	missense	probably benign	0.00
IGL01301:Slco1a1	APN	6	141,878,256 (GRCm39)	splice site	probably benign
IGL01306:Slco1a1	APN	6	141,892,313 (GRCm39)	nonsense	probably null
IGL01774:Slco1a1	APN	6	141,871,339 (GRCm39)	nonsense	probably null
IGL02097:Slco1a1	APN	6	141,885,765 (GRCm39)	missense	possibly damaging	0.94
IGL02183:Slco1a1	APN	6	141,867,669 (GRCm39)	splice site	probably benign
IGL02376:Slco1a1	APN	6	141,870,060 (GRCm39)	critical splice donor site	probably null
IGL02550:Slco1a1	APN	6	141,889,191 (GRCm39)	missense	probably benign	0.24
IGL02559:Slco1a1	APN	6	141,867,514 (GRCm39)	missense	probably benign	0.01
IGL02825:Slco1a1	APN	6	141,864,343 (GRCm39)	missense	probably damaging	1.00
IGL03352:Slco1a1	APN	6	141,857,611 (GRCm39)	missense	probably benign	0.00
ANU23:Slco1a1	UTSW	6	141,892,313 (GRCm39)	nonsense	probably null
R0041:Slco1a1	UTSW	6	141,864,185 (GRCm39)	splice site	probably benign
R0153:Slco1a1	UTSW	6	141,856,427 (GRCm39)	splice site	probably benign
R0610:Slco1a1	UTSW	6	141,864,187 (GRCm39)	critical splice donor site	probably null
R0646:Slco1a1	UTSW	6	141,871,480 (GRCm39)	splice site	probably benign
R0828:Slco1a1	UTSW	6	141,867,565 (GRCm39)	missense	possibly damaging	0.89
R1674:Slco1a1	UTSW	6	141,881,661 (GRCm39)	missense	probably damaging	0.99
R1848:Slco1a1	UTSW	6	141,868,837 (GRCm39)	missense	probably benign	0.29
R3834:Slco1a1	UTSW	6	141,889,163 (GRCm39)	missense	possibly damaging	0.94
R3953:Slco1a1	UTSW	6	141,868,833 (GRCm39)	missense	probably damaging	1.00
R3974:Slco1a1	UTSW	6	141,854,819 (GRCm39)	missense	probably benign	0.01
R4081:Slco1a1	UTSW	6	141,881,688 (GRCm39)	missense	probably damaging	0.99
R4729:Slco1a1	UTSW	6	141,854,695 (GRCm39)	missense	probably benign	0.00
R4752:Slco1a1	UTSW	6	141,892,340 (GRCm39)	missense	possibly damaging	0.80
R4806:Slco1a1	UTSW	6	141,854,735 (GRCm39)	missense	possibly damaging	0.76
R4812:Slco1a1	UTSW	6	141,864,319 (GRCm39)	missense	probably damaging	1.00
R4963:Slco1a1	UTSW	6	141,868,825 (GRCm39)	missense	probably benign	0.26
R5641:Slco1a1	UTSW	6	141,885,695 (GRCm39)	missense	probably damaging	1.00
R6044:Slco1a1	UTSW	6	141,885,743 (GRCm39)	missense	probably benign	0.01
R6211:Slco1a1	UTSW	6	141,854,775 (GRCm39)	missense	probably benign	0.20
R6225:Slco1a1	UTSW	6	141,870,215 (GRCm39)	missense	possibly damaging	0.70
R6328:Slco1a1	UTSW	6	141,878,176 (GRCm39)	missense	probably damaging	1.00
R6428:Slco1a1	UTSW	6	141,871,416 (GRCm39)	missense	probably damaging	1.00
R6787:Slco1a1	UTSW	6	141,882,213 (GRCm39)	missense	probably benign	0.00
R7182:Slco1a1	UTSW	6	141,857,565 (GRCm39)	missense	probably damaging	1.00
R7328:Slco1a1	UTSW	6	141,882,134 (GRCm39)	missense	possibly damaging	0.94
R7723:Slco1a1	UTSW	6	141,854,795 (GRCm39)	missense	probably damaging	0.97
R7784:Slco1a1	UTSW	6	141,889,114 (GRCm39)	missense	probably damaging	0.99
R8348:Slco1a1	UTSW	6	141,885,787 (GRCm39)	missense	possibly damaging	0.79
R8448:Slco1a1	UTSW	6	141,885,787 (GRCm39)	missense	possibly damaging	0.79
R8856:Slco1a1	UTSW	6	141,857,624 (GRCm39)	missense	probably damaging	1.00
R9121:Slco1a1	UTSW	6	141,892,542 (GRCm39)	unclassified	probably benign
R9484:Slco1a1	UTSW	6	141,854,672 (GRCm39)	missense	probably benign	0.00
Z1177:Slco1a1	UTSW	6	141,885,744 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACGTACATACCTATGAGGAATACTG -3'
(R):5'- GTGGACAGAGACACAATCCC -3'

Sequencing Primer
(F):5'- CCTATGAGGAATACTGCCTCTGAAG -3'
(R):5'- AAGCCTGTTGTGTCATTAATGTC -3'

Posted On

2019-06-26