Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Slco4a1'

182788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slco4a1

Ensembl Gene

ENSMUSG00000038963

Gene Name

solute carrier organic anion transporter family, member 4a1

Synonyms

Slc21a12, OATP-E

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180473153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 623 (V623A)

Ref Sequence

ENSEMBL: ENSMUSP00000046502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038225] [ENSMUST00000038259]

AlphaFold

Q8K078

Predicted Effect

probably benign
Transcript: ENSMUST00000038225
AA Change: V623A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: V623A

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:OATP	103	665	5.7e-168	PFAM
Pfam:MFS_1	105	496	3e-15	PFAM
Pfam:Kazal_2	512	555	1.1e-7	PFAM
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038259
AA Change: V623A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: V623A

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:OATP	101	666	2.8e-172	PFAM
Pfam:MFS_1	105	496	2.5e-15	PFAM
Pfam:Kazal_2	512	555	7.7e-8	PFAM
transmembrane domain	668	690	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139902

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	G	17: 33,066,315 (GRCm38)	E504D	probably benign	Het
Abca12	A	C	1: 71,346,698 (GRCm38)	S254A	probably benign	Het
Abca7	T	G	10: 80,002,641 (GRCm38)	L583R	probably damaging	Het
Acp1	A	T	12: 30,911,492 (GRCm38)	L14H	possibly damaging	Het
Adar	A	G	3: 89,738,090 (GRCm38)	I3V	probably benign	Het
Adh4	C	T	3: 138,429,027 (GRCm38)		probably benign	Het
Aldh1l1	A	G	6: 90,559,863 (GRCm38)	I103V	probably benign	Het
Asic3	C	A	5: 24,417,721 (GRCm38)	T523N	probably benign	Het
Aspm	T	C	1: 139,491,588 (GRCm38)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,753,927 (GRCm38)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,287,473 (GRCm38)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,223,332 (GRCm38)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,925,601 (GRCm38)	N237S	probably benign	Het
Bysl	C	A	17: 47,611,071 (GRCm38)		probably null	Het
C2cd6	T	C	1: 59,067,773 (GRCm38)		probably benign	Het
Ccdc141	A	G	2: 77,030,659 (GRCm38)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,677,719 (GRCm38)	V697E	probably damaging	Het
Cers1	A	G	8: 70,323,431 (GRCm38)	D324G	probably damaging	Het
Ctsq	C	T	13: 61,039,521 (GRCm38)	C11Y	probably benign	Het
Ctsq	T	A	13: 61,038,918 (GRCm38)	I91F	probably benign	Het
Cyp11b1	T	C	15: 74,839,403 (GRCm38)	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,104,735 (GRCm38)	S363I	probably benign	Het
Eps15l1	A	T	8: 72,379,075 (GRCm38)	D567E	probably benign	Het
Esf1	G	A	2: 140,164,528 (GRCm38)	A233V	probably benign	Het
Fras1	A	T	5: 96,739,248 (GRCm38)	I2630F	possibly damaging	Het
Fyb	A	T	15: 6,580,177 (GRCm38)	E77V	probably null	Het
Gjb6	C	A	14: 57,124,573 (GRCm38)	W77L	probably damaging	Het
Gm21983	A	G	7: 27,180,278 (GRCm38)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,585,631 (GRCm38)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,237,877 (GRCm38)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,751,738 (GRCm38)	H289L	probably benign	Het
Ilvbl	T	C	10: 78,579,022 (GRCm38)	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,809,096 (GRCm38)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,584,482 (GRCm38)	N112T	probably damaging	Het
Ly75	T	C	2: 60,311,764 (GRCm38)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,445,634 (GRCm38)	P46T	probably benign	Het
Madd	A	T	2: 91,175,707 (GRCm38)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,298,333 (GRCm38)	Q38*	probably null	Het
Mcm4	A	T	16: 15,630,420 (GRCm38)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,863,278 (GRCm38)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,585,531 (GRCm38)	L157P	probably damaging	Het
Nectin2	A	G	7: 19,717,562 (GRCm38)	S516P	probably damaging	Het
Nme5	T	A	18: 34,569,875 (GRCm38)	D120V	probably damaging	Het
Npy4r	T	C	14: 34,147,325 (GRCm38)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,759,340 (GRCm38)		probably benign	Het
Omd	T	C	13: 49,589,497 (GRCm38)	Y8H	possibly damaging	Het
Ppp1r15a	T	C	7: 45,524,379 (GRCm38)		probably benign	Het
Ppp2ca	T	C	11: 52,099,064 (GRCm38)	F6L	probably benign	Het
Rab1a	T	C	11: 20,224,717 (GRCm38)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,746 (GRCm38)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,443,268 (GRCm38)	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,812,615 (GRCm38)	F509S	probably damaging	Het
Spg20	T	A	3: 55,128,490 (GRCm38)		probably null	Het
Sptan1	A	G	2: 30,019,968 (GRCm38)	D1780G	probably damaging	Het
Tgm7	G	T	2: 121,093,625 (GRCm38)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,969 (GRCm38)		probably benign	Het
Trak2	G	A	1: 58,926,655 (GRCm38)	A120V	possibly damaging	Het
Trappc8	G	A	18: 20,874,712 (GRCm38)		probably benign	Het
Trim66	T	C	7: 109,458,763 (GRCm38)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,636,074 (GRCm38)		probably benign	Het
Ugt2b37	A	C	5: 87,242,432 (GRCm38)	I385S	probably damaging	Het
Usf3	A	G	16: 44,218,817 (GRCm38)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,748,029 (GRCm38)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,438,904 (GRCm38)	Q377*	probably null	Het
Washc2	A	T	6: 116,236,189 (GRCm38)	E570D	probably benign	Het
Wscd1	T	C	11: 71,766,873 (GRCm38)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,059,168 (GRCm38)	C169S	probably benign	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180,464,679 (GRCm38)	missense	probably damaging	1.00
IGL02297:Slco4a1	APN	2	180,464,489 (GRCm38)	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180,473,128 (GRCm38)	missense	probably damaging	0.98
conduit	UTSW	2	180,473,615 (GRCm38)	missense	probably damaging	1.00
ingress	UTSW	2	180,465,677 (GRCm38)	missense	probably benign
R1621:Slco4a1	UTSW	2	180,471,132 (GRCm38)	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180,464,736 (GRCm38)	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180,467,087 (GRCm38)	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180,464,091 (GRCm38)	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180,464,091 (GRCm38)	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180,474,210 (GRCm38)	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180,472,662 (GRCm38)	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180,464,378 (GRCm38)	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180,473,615 (GRCm38)	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180,473,615 (GRCm38)	missense	probably damaging	1.00
R4925:Slco4a1	UTSW	2	180,472,056 (GRCm38)	missense	probably benign	0.35
R5156:Slco4a1	UTSW	2	180,472,779 (GRCm38)	missense	probably benign	0.01
R5186:Slco4a1	UTSW	2	180,473,108 (GRCm38)	missense	probably damaging	1.00
R5252:Slco4a1	UTSW	2	180,464,459 (GRCm38)	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180,471,235 (GRCm38)	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180,474,114 (GRCm38)	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180,474,114 (GRCm38)	missense	possibly damaging	0.91
R6969:Slco4a1	UTSW	2	180,464,808 (GRCm38)	missense	probably benign
R7133:Slco4a1	UTSW	2	180,472,063 (GRCm38)	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180,464,811 (GRCm38)	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180,472,137 (GRCm38)	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180,474,126 (GRCm38)	missense	probably benign
R7599:Slco4a1	UTSW	2	180,471,255 (GRCm38)	missense	probably benign
R7750:Slco4a1	UTSW	2	180,471,237 (GRCm38)	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180,465,677 (GRCm38)	missense	probably benign
R8203:Slco4a1	UTSW	2	180,464,799 (GRCm38)	missense	probably damaging	0.96
R8504:Slco4a1	UTSW	2	180,464,799 (GRCm38)	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180,464,241 (GRCm38)	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180,464,685 (GRCm38)	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180,472,478 (GRCm38)	missense	probably damaging	1.00
R9455:Slco4a1	UTSW	2	180,473,577 (GRCm38)	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180,474,150 (GRCm38)	missense	possibly damaging	0.93
Z1177:Slco4a1	UTSW	2	180,464,564 (GRCm38)	nonsense	probably null
Z1177:Slco4a1	UTSW	2	180,464,381 (GRCm38)	missense	possibly damaging	0.85

Posted On

2014-05-07