Mutagenetix > Incidental Mutation

Incidental Mutation 'R4571:Slco4a1'

342126

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

041795-MU

Accession Numbers

Essential gene?

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

Stock #

R4571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180464378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 118 (T118S)

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: T118S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: T118S

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: T118S

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: T118S

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: ENSMUST00000138446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139902

Meta Mutation Damage Score

0.1985

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,030,058 (GRCm38)	C1497S	probably damaging	Het
Acoxl	G	T	2: 127,877,807 (GRCm38)	G163W	probably damaging	Het
Apbb1	T	A	7: 105,573,762 (GRCm38)	N214I	probably damaging	Het
Apol7b	T	C	15: 77,423,534 (GRCm38)	K254E	probably benign	Het
Arl4d	T	A	11: 101,667,143 (GRCm38)	V165E	possibly damaging	Het
Brca1	C	A	11: 101,517,366 (GRCm38)	R1377L	probably benign	Het
Btf3	A	G	13: 98,313,284 (GRCm38)	F65L	probably benign	Het
C2	T	C	17: 34,863,659 (GRCm38)	N495D	probably benign	Het
Cacna1c	T	C	6: 118,630,380 (GRCm38)	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217 (GRCm38)	D796E	probably benign	Het
Clasp2	G	T	9: 113,847,721 (GRCm38)	L173F	probably damaging	Het
Clec4g	A	T	8: 3,718,766 (GRCm38)		probably null	Het
Col9a3	T	C	2: 180,616,366 (GRCm38)		probably benign	Het
Csmd2	T	A	4: 128,480,095 (GRCm38)		probably null	Het
Ddx11	T	C	17: 66,130,773 (GRCm38)	C165R	probably benign	Het
Dnah7c	A	C	1: 46,533,216 (GRCm38)	M950L	probably damaging	Het
Dusp23	A	C	1: 172,632,614 (GRCm38)		probably null	Het
Ebag9	A	T	15: 44,636,762 (GRCm38)		probably null	Het
Edn3	G	A	2: 174,781,904 (GRCm38)	A211T	probably benign	Het
Eif3e	G	A	15: 43,266,162 (GRCm38)	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,920,897 (GRCm38)	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,054,236 (GRCm38)	E138*	probably null	Het
Galc	T	C	12: 98,222,617 (GRCm38)	T412A	probably benign	Het
Gimap3	T	C	6: 48,765,720 (GRCm38)	D92G	possibly damaging	Het
Gin1	T	C	1: 97,785,076 (GRCm38)	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,848,718 (GRCm38)		noncoding transcript	Het
Gm7052	T	A	17: 22,040,424 (GRCm38)		probably benign	Het
Gpcpd1	T	A	2: 132,550,350 (GRCm38)	E226D	probably benign	Het
Hoxb4	T	C	11: 96,319,166 (GRCm38)	S133P	possibly damaging	Het
Hrg	C	T	16: 22,961,222 (GRCm38)		probably benign	Het
Insrr	A	G	3: 87,800,887 (GRCm38)	K212R	probably benign	Het
Ipp	A	G	4: 116,530,458 (GRCm38)	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,658,766 (GRCm38)	A421V	probably damaging	Het
Kcnq3	A	G	15: 66,030,612 (GRCm38)	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110 (GRCm38)	F616S	probably damaging	Het
Lars1	T	C	18: 42,228,230 (GRCm38)		probably null	Het
Lmo7	G	T	14: 101,887,594 (GRCm38)	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,734,091 (GRCm38)	A432S	probably benign	Het
Nop2	T	G	6: 125,140,881 (GRCm38)		probably null	Het
Nup50l	T	A	6: 96,164,881 (GRCm38)	N394I	probably damaging	Het
Or10ag53	C	A	2: 87,252,458 (GRCm38)	Q174K	possibly damaging	Het
Or2h2	T	C	17: 37,085,579 (GRCm38)	I195M	probably damaging	Het
Or5m11b	A	T	2: 85,975,831 (GRCm38)	E196V	probably damaging	Het
Or6k2	A	T	1: 174,158,928 (GRCm38)	N52Y	possibly damaging	Het
Pan2	A	G	10: 128,308,643 (GRCm38)	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,842,424 (GRCm38)	E9G	possibly damaging	Het
Pik3cb	T	A	9: 99,090,257 (GRCm38)	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,613,409 (GRCm38)	T40I	probably damaging	Het
Plxna2	T	C	1: 194,810,988 (GRCm38)	V1857A	possibly damaging	Het
Polg	T	C	7: 79,460,379 (GRCm38)	S334G	probably damaging	Het
Rem2	T	C	14: 54,477,659 (GRCm38)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,704,236 (GRCm38)		noncoding transcript	Het
Slc6a18	A	T	13: 73,666,370 (GRCm38)	N468K	possibly damaging	Het
Smg1	A	T	7: 118,139,465 (GRCm38)	N3520K	possibly damaging	Het
Tapbp	C	A	17: 33,926,453 (GRCm38)	D415E	probably damaging	Het
Topaz1	A	G	9: 122,747,436 (GRCm38)	T31A	probably benign	Het
Trpv6	C	T	6: 41,621,744 (GRCm38)	R649H	probably damaging	Het
Vmn1r188	A	G	13: 22,088,518 (GRCm38)	Y214C	probably benign	Het
Vps8	T	A	16: 21,435,775 (GRCm38)	I59N	probably damaging	Het
Wnt9a	T	C	11: 59,331,337 (GRCm38)	C354R	probably damaging	Het
Zcchc2	A	G	1: 106,031,257 (GRCm38)	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,793,202 (GRCm38)	R294G	probably damaging	Het
Zfp558	A	T	9: 18,456,503 (GRCm38)	C330S	possibly damaging	Het
Zfp62	G	T	11: 49,215,742 (GRCm38)	S220I	probably damaging	Het
Zfp62	A	C	11: 49,215,741 (GRCm38)	S220R	probably damaging	Het
Zp3r	A	G	1: 130,578,020 (GRCm38)	S423P	probably damaging	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
IGL01982:Slco4a1	APN	2	180,473,153 (GRCm38)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TTACTAGCACGTCCTCAGCC -3'
(R):5'- GCAAATACCAGGGAGCCGATTC -3'

Sequencing Primer
(F):5'- AGCCAACCCCTGTTTGAG -3'
(R):5'- AGCCGATTCCCAGGACCAG -3'

Posted On

2015-09-24