Mutagenetix > Incidental Mutations

Incidental Mutation 'R7249:Slco4a1'

563741

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R7249 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180464811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 262 (Y262C)

Ref Sequence

ENSEMBL: ENSMUSP00000045023 (fasta)

Gene Model

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

AlphaFold

Q8K078

Predicted Effect

probably benign
Transcript: ENSMUST00000038225
AA Change: Y262C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: Y262C

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: Y262C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: Y262C

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: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,248,341	T38A	probably benign	Het
3425401B19Rik	G	T	14: 32,663,314	S231R	possibly damaging	Het
Abi1	T	C	2: 22,957,089	E250G	possibly damaging	Het
Actl6b	T	A	5: 137,555,085	S120T	probably damaging	Het
Adgrv1	G	A	13: 81,374,259	H5920Y	probably damaging	Het
Adra2c	G	A	5: 35,280,955	R357H	probably damaging	Het
Ap3d1	T	C	10: 80,741,933	D20G	probably damaging	Het
Arfgef3	A	T	10: 18,630,835	D847E	possibly damaging	Het
Cacna1d	T	C	14: 30,142,703	E434G	probably damaging	Het
Carm1	T	C	9: 21,586,209	Y356H	probably benign	Het
Clip1	T	C	5: 123,603,600	K1075R	probably damaging	Het
Cyp27b1	G	T	10: 127,051,049		probably null	Het
D630045J12Rik	A	T	6: 38,136,950	V1769D	possibly damaging	Het
Dchs2	C	T	3: 83,128,029	Q28*	probably null	Het
Dpp4	A	G	2: 62,385,203	F107L	probably benign	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Faap24	A	G	7: 35,395,060	V105A	probably benign	Het
Gabra6	A	T	11: 42,317,432	D166E	probably damaging	Het
Gfpt1	A	G	6: 87,056,144	E117G	probably damaging	Het
H2-T10	T	C	17: 36,119,377	D224G	probably damaging	Het
Hspa12a	T	A	19: 58,805,433	E332V	probably benign	Het
Htr5b	T	A	1: 121,510,474	N343Y	probably damaging	Het
Irf8	C	A	8: 120,739,832	N5K	possibly damaging	Het
Itgb1	C	A	8: 128,720,404	Q467K	probably benign	Het
Itpr2	C	A	6: 146,311,052	C1522F	probably damaging	Het
Jmjd1c	T	A	10: 67,189,817	L138I	probably benign	Het
Lrrc8b	G	T	5: 105,481,267	R493L	probably benign	Het
Malrd1	G	T	2: 15,623,340	C400F	probably damaging	Het
March8	G	A	6: 116,406,234	E257K	probably benign	Het
Mastl	G	A	2: 23,146,139	H122Y	probably damaging	Het
Mis18a	T	C	16: 90,726,314	K98R	possibly damaging	Het
Msra	A	G	14: 64,440,763	V28A	probably benign	Het
Mtmr7	A	G	8: 40,590,477	V177A	probably benign	Het
Nelfcd	T	C	2: 174,423,206		probably null	Het
Nemp1	T	C	10: 127,693,526	S226P	probably damaging	Het
Nmnat1	G	A	4: 149,469,642	T147I	probably null	Het
Ntng2	A	G	2: 29,227,992	V148A	probably benign	Het
Nup214	A	G	2: 31,988,233	H304R	possibly damaging	Het
Olfr1239	T	C	2: 89,417,873	Y180C	probably damaging	Het
Phldb2	C	A	16: 45,801,614	A623S	probably damaging	Het
Pitrm1	C	T	13: 6,560,125	T411I	probably damaging	Het
Pkn3	G	A	2: 30,084,761	R429Q	probably benign	Het
Plcb4	A	G	2: 136,007,821		probably null	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Pnp	G	A	14: 50,951,430	V227I	probably benign	Het
Pskh1	T	C	8: 105,913,254	S189P	possibly damaging	Het
Rbpms2	T	G	9: 65,649,350	V24G	probably damaging	Het
Robo3	T	A	9: 37,424,833	I446L	probably benign	Het
Sept8	A	T	11: 53,535,122	K174I	probably damaging	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Spidr	T	C	16: 15,966,648	S519G	probably benign	Het
Ssx2ip	A	G	3: 146,426,438	N218S	possibly damaging	Het
Svil	T	C	18: 5,056,270	V381A	probably benign	Het
Svil	T	C	18: 5,062,247	S769P	probably damaging	Het
Tep1	A	T	14: 50,824,275	C2595S	possibly damaging	Het
Tiam1	T	C	16: 89,843,255	Y858C	probably damaging	Het
Tie1	A	G	4: 118,486,228	V146A	probably benign	Het
Traf3ip1	G	T	1: 91,527,639	E578D	probably damaging	Het
Trim23	A	G	13: 104,188,155	Y247C	probably damaging	Het
Tsc2	A	G	17: 24,607,755	W896R	probably damaging	Het
Vmn1r157	T	C	7: 22,761,700	S2P	probably benign	Het
Xkr4	T	A	1: 3,216,810	T386S	probably damaging	Het
Zdhhc24	T	G	19: 4,878,861	V38G	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
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
R8504: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
Z1177:Slco4a1	UTSW	2	180464381	missense	possibly damaging	0.85
Z1177:Slco4a1	UTSW	2	180464564	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGACGTGCCTGACTAATC -3'
(R):5'- CATTATGGGGCTCCTTAGGAAAG -3'

Sequencing Primer
(F):5'- ACTAATCAGAGTCATGTGGAGTG -3'
(R):5'- GGCTCCTTAGGAAAGTTGACATCC -3'

Posted On

2019-06-26