Mutagenetix > Incidental Mutation

Incidental Mutation 'R9170:Slco4a1'

696327

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

Essential gene?

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

Stock #

R9170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180456245-180474867 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180464685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 220 (D220G)

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: D220G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: D220G

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: D220G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: D220G

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: 99.8%
20x: 99.2%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,684,404	Q565L	possibly damaging	Het
Adam4	T	C	12: 81,419,742	K702E	probably benign	Het
Agbl1	T	C	7: 76,335,321	I162T		Het
Agpat2	A	T	2: 26,597,218	I101N	possibly damaging	Het
Amot	A	T	X: 145,461,749	L435H		Het
Arhgap32	G	A	9: 32,250,743	R330H	possibly damaging	Het
Asb4	T	A	6: 5,390,775	I56N	probably benign	Het
Atp2a2	C	T	5: 122,466,024	V449M	possibly damaging	Het
Bend4	A	G	5: 67,417,737	L267P	probably damaging	Het
Catspere2	T	A	1: 178,140,383	N745K	probably benign	Het
Celf2	A	G	2: 6,549,835	F484L	possibly damaging	Het
Chd3	T	C	11: 69,350,822	D1495G	possibly damaging	Het
Chrna3	A	T	9: 55,026,387	V8D	unknown	Het
Cog3	T	C	14: 75,729,362	Y466C	probably damaging	Het
Col5a1	A	G	2: 27,951,351	E328G	unknown	Het
Col7a1	A	G	9: 108,956,639	Y392C	unknown	Het
Crtc3	A	T	7: 80,598,949	N255K	probably damaging	Het
Dnaaf1	T	C	8: 119,575,456	I32T	probably benign	Het
Dner	A	T	1: 84,534,926	C307S	probably damaging	Het
Dzip3	T	C	16: 48,952,038	K423E	possibly damaging	Het
Eif2b4	A	G	5: 31,188,049	S414P	probably damaging	Het
Elp4	T	C	2: 105,794,546	E334G	probably damaging	Het
Emilin2	T	A	17: 71,280,694	N141I	probably benign	Het
Fstl1	T	A	16: 37,826,778	V170E	probably damaging	Het
Fxn	A	G	19: 24,267,323	I151T	probably damaging	Het
Gm13083	T	C	4: 143,615,030	S10P	possibly damaging	Het
Gtf3c4	A	T	2: 28,840,202	V9E	possibly damaging	Het
Ino80d	A	G	1: 63,093,448	S19P	probably damaging	Het
Kank3	T	G	17: 33,818,268	L370R	probably damaging	Het
Large1	T	A	8: 72,816,017	Y693F	probably benign	Het
Lig4	C	A	8: 9,972,202	W526L	probably damaging	Het
Mib1	C	T	18: 10,726,437	P45S	probably benign	Het
Ndufaf6	T	C	4: 11,070,301	K107E	probably benign	Het
Nf1	T	C	11: 79,545,465	L1977P	probably damaging	Het
Nme4	G	T	17: 26,095,415	A13E	probably benign	Het
Olfr605	G	A	7: 103,442,643	P160L	probably damaging	Het
Olfr625-ps1	T	A	7: 103,683,197	F160I	probably benign	Het
Pappa	G	A	4: 65,340,725	R1570Q	probably damaging	Het
Parp6	G	A	9: 59,623,930	A32T		Het
Pclo	A	G	5: 14,681,054	Q64R		Het
Pde8a	C	T	7: 81,332,871	T746I	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068		probably benign	Het
Prdm13	C	G	4: 21,679,659	R277P	unknown	Het
Prf1	A	C	10: 61,300,437	D164A	probably damaging	Het
Rarres1	A	G	3: 67,479,591	V226A	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,281,804		probably benign	Het
Rnf123	A	G	9: 108,071,176	L106P	probably damaging	Het
Scnn1b	A	T	7: 121,912,103	T338S	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc9a5	T	C	8: 105,353,507	V94A	probably damaging	Het
Sult1c1	T	C	17: 53,962,172	D272G	possibly damaging	Het
Tgm1	T	C	14: 55,708,898	N427S	probably damaging	Het
Themis	C	A	10: 28,782,237	T420N	probably benign	Het
Tnni3	A	T	7: 4,518,377	F209L	probably damaging	Het
Ttn	T	A	2: 76,915,568	S5046C	probably damaging	Het
Tubb2a	T	A	13: 34,076,645	I24L	probably benign	Het
Uevld	C	A	7: 46,937,998	G318V	probably damaging	Het
Unkl	T	C	17: 25,229,376	S308P	probably benign	Het
Vmn1r159	C	A	7: 22,843,340	C89F	probably damaging	Het
Wee2	T	G	6: 40,461,043	S302A	probably benign	Het
Ydjc	T	C	16: 17,147,802	C144R	probably benign	Het
Zc3h12c	A	G	9: 52,116,119	S667P	probably benign	Het
Zfp280b	T	A	10: 76,038,817	Y177N	probably benign	Het
Zfp354b	C	T	11: 50,923,535	E188K	probably benign	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
R8504:Slco4a1	UTSW	2	180464799	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180464241	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'- ATCGCCAGCTCCTATGACATC -3'
(R):5'- CACCCTGATTCCTTGGCAAATC -3'

Sequencing Primer
(F):5'- ATGACATCGCTGCCTGC -3'
(R):5'- TCCTACTCACCGATATAGATGGG -3'

Posted On

2022-02-07