Mutagenetix > Incidental Mutation

Incidental Mutation 'R8504:Slco4a1'

655447

Institutional Source

Beutler Lab

Gene Symbol

Slco4a1

Ensembl Gene

ENSMUSG00000038963

Gene Name

solute carrier organic anion transporter family, member 4a1

Synonyms

Slc21a12, OATP-E

MMRRC Submission

067840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180464799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000045023 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably damaging
Transcript: ENSMUST00000038225
AA Change: V258A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: V258A

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 damaging
Transcript: ENSMUST00000038259
AA Change: V258A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: V258A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,129,334	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,283,479	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,446,949	E758G	probably benign	Het
Akap3	T	A	6: 126,864,530	D37E	probably damaging	Het
Ano5	A	T	7: 51,573,028	H445L	probably benign	Het
Ap4b1	T	A	3: 103,812,800	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,579,528	K135E	probably benign	Het
Ass1	T	C	2: 31,501,532	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,647,917	Y1119*	probably null	Het
Birc6	T	A	17: 74,652,005	M3839K	probably damaging	Het
Cacna1a	A	G	8: 84,638,741	H2171R	probably benign	Het
Ccdc105	T	C	10: 78,749,204	D266G	probably benign	Het
Ccdc105	T	C	10: 78,750,629	D196G	probably damaging	Het
Ccdc90b	T	A	7: 92,575,337	D183E	probably benign	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cdh23	T	A	10: 60,438,839	T491S	probably benign	Het
Cercam	T	C	2: 29,881,817	S550P	possibly damaging	Het
Chd9	A	G	8: 90,996,844	H1019R	unknown	Het
Coil	A	T	11: 88,981,154	K114*	probably null	Het
Csmd2	A	C	4: 128,546,690	T3183P		Het
Cul9	T	C	17: 46,503,580	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,859,875	Q199*	probably null	Het
Elp3	A	T	14: 65,547,911	S499R	probably benign	Het
Exoc8	T	G	8: 124,895,970	I553L	probably benign	Het
Fyco1	C	A	9: 123,830,077	V345L	probably benign	Het
Galr3	T	A	15: 79,043,079	V240E	probably damaging	Het
Gm21190	A	G	5: 15,525,864	S165P	probably benign	Het
Gnal	T	A	18: 67,217,184	Y372*	probably null	Het
H2-DMa	A	G	17: 34,138,442	N230D	probably damaging	Het
Hk2	T	C	6: 82,744,866	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,253,924	I16F	possibly damaging	Het
Ivl	T	C	3: 92,572,771		probably benign	Het
Klhl8	G	A	5: 103,867,948	T434M	probably benign	Het
Lct	A	T	1: 128,287,569	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,912,184	Y132F	probably damaging	Het
M6pr	T	C	6: 122,316,070	V203A	possibly damaging	Het
Map9	T	C	3: 82,377,169		probably null	Het
Muc5ac	A	T	7: 141,807,155	D1401V	probably damaging	Het
Myh7	A	G	14: 54,990,329	S291P	probably damaging	Het
Nynrin	G	C	14: 55,870,246	V937L	probably benign	Het
Olfr1032	T	G	2: 86,007,805	F10V	probably damaging	Het
Olfr1174-ps	C	T	2: 88,311,481	G105D	probably benign	Het
Pank2	A	G	2: 131,293,400	N386S	probably benign	Het
Phkg2	G	T	7: 127,582,356	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,520,208	V1772I	probably benign	Het
Plch2	G	T	4: 154,984,395	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,642,453	I77N	probably damaging	Het
Ptprb	A	G	10: 116,341,031	T954A	probably benign	Het
Ranbp3	T	C	17: 56,708,273	V325A	probably damaging	Het
Rgs10	A	T	7: 128,418,069	S16T	probably benign	Het
Scaper	A	T	9: 55,864,438	V398E	probably benign	Het
Selenot	A	G	3: 58,585,277	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,255,109	C173S	probably benign	Het
Slc13a3	G	T	2: 165,434,079	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,803,290	V741D	possibly damaging	Het
Sycp2l	T	G	13: 41,137,914	L256R	probably damaging	Het
Top2a	C	T	11: 99,014,741	V337I	probably benign	Het
Unc13a	A	C	8: 71,645,761	F1127V	possibly damaging	Het
Wdr25	C	T	12: 109,026,467	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,780,518	L526R	probably damaging	Het
Zcchc11	T	C	4: 108,530,942	L1160P	probably damaging	Het
Zeb1	C	A	18: 5,705,127	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,065,786	S1580R	probably benign	Het
Zfhx3	A	G	8: 108,856,917	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,480,067	V1038L	probably benign	Het
Zfp759	T	A	13: 67,138,883	V166E	probably benign	Het
Zfp985	A	T	4: 147,583,426	K250N	possibly damaging	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180464679	missense	probably damaging	1.00
IGL01982:Slco4a1	APN	2	180473153	missense	probably benign	0.03
IGL02297:Slco4a1	APN	2	180464489	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180473128	missense	probably damaging	0.98
conduit	UTSW	2	180473615	missense	probably damaging	1.00
ingress	UTSW	2	180465677	missense	probably benign
R1621:Slco4a1	UTSW	2	180471132	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180464736	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180467087	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180464091	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180464091	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180474210	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180472662	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180464378	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180473615	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180473615	missense	probably damaging	1.00
R4925:Slco4a1	UTSW	2	180472056	missense	probably benign	0.35
R5156:Slco4a1	UTSW	2	180472779	missense	probably benign	0.01
R5186:Slco4a1	UTSW	2	180473108	missense	probably damaging	1.00
R5252:Slco4a1	UTSW	2	180464459	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180471235	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180474114	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180474114	missense	possibly damaging	0.91
R6969:Slco4a1	UTSW	2	180464808	missense	probably benign
R7133:Slco4a1	UTSW	2	180472063	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180464811	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180472137	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180474126	missense	probably benign
R7599:Slco4a1	UTSW	2	180471255	missense	probably benign
R7750:Slco4a1	UTSW	2	180471237	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180465677	missense	probably benign
R8203:Slco4a1	UTSW	2	180464799	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180464241	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180464685	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180472478	missense	probably damaging	1.00
R9455:Slco4a1	UTSW	2	180473577	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180474150	missense	possibly damaging	0.93
Z1177:Slco4a1	UTSW	2	180464381	missense	possibly damaging	0.85
Z1177:Slco4a1	UTSW	2	180464564	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCCCTGGTATTTGCACTG -3'
(R):5'- GTAGCTTAGGGACACTTGGATC -3'

Sequencing Primer
(F):5'- CGGCCGCTATGAGGTAGAG -3'
(R):5'- ACACTTGGATCATATGGCCG -3'

Posted On

2020-10-20