Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Slco4a1'

500820

Institutional Source

Beutler Lab

Gene Symbol

Slco4a1

Ensembl Gene

ENSMUSG00000038963

Gene Name

solute carrier organic anion transporter family, member 4a1

Synonyms

OATP-E, Slc21a12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180098038-180116660 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180113849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 429 (Y429H)

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: Y429H

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000045023
Gene: ENSMUSG00000038963
AA Change: Y429H

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: Y429H

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046502
Gene: ENSMUSG00000038963
AA Change: Y429H

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

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,316,540 (GRCm39)	C173*	probably null	Het
3425401B19Rik	T	A	14: 32,385,137 (GRCm39)	H276L	possibly damaging	Het
Adam21	T	G	12: 81,607,163 (GRCm39)	M200L	probably benign	Het
Adamts3	A	T	5: 89,832,182 (GRCm39)	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,251,507 (GRCm39)		probably null	Het
Atp8b2	A	G	3: 89,853,930 (GRCm39)		probably null	Het
Brd8	T	C	18: 34,740,388 (GRCm39)	T552A	probably benign	Het
Btaf1	A	G	19: 36,988,733 (GRCm39)	S1826G	probably benign	Het
Ccdc163	A	G	4: 116,568,528 (GRCm39)	E77G	possibly damaging	Het
Ces2g	A	G	8: 105,691,526 (GRCm39)	R194G	probably benign	Het
Cip2a	T	C	16: 48,836,726 (GRCm39)		probably null	Het
Cln8	A	G	8: 14,945,004 (GRCm39)	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,582,077 (GRCm39)	L1391F	probably damaging	Het
Col16a1	G	A	4: 129,947,969 (GRCm39)	D230N	probably damaging	Het
Crhbp	C	A	13: 95,580,318 (GRCm39)	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,389,644 (GRCm39)	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,353,133 (GRCm39)	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,733,149 (GRCm39)	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 44,136,634 (GRCm39)	D219E	probably damaging	Het
Fgfr2	A	T	7: 129,787,002 (GRCm39)	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,360,840 (GRCm39)	V363M	probably damaging	Het
Foxb1	T	A	9: 69,667,437 (GRCm39)	E31V	probably damaging	Het
Galnt9	T	C	5: 110,692,605 (GRCm39)	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,693,218 (GRCm39)	D77G	probably damaging	Het
Gpr85	A	G	6: 13,835,977 (GRCm39)	V309A	probably benign	Het
Greb1	T	C	12: 16,731,472 (GRCm39)	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447 (GRCm39)	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,487,687 (GRCm39)	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,600,169 (GRCm39)	I399L	probably benign	Het
Hectd4	T	C	5: 121,460,753 (GRCm39)	S911P	possibly damaging	Het
Igkc	A	T	6: 70,703,520 (GRCm39)	K34*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqgap1	T	A	7: 80,415,065 (GRCm39)	I149F	probably damaging	Het
Lama1	C	T	17: 68,101,309 (GRCm39)	A1934V	probably benign	Het
Lrp1	C	A	10: 127,410,944 (GRCm39)	E1415*	probably null	Het
Lypd8l	T	A	11: 58,501,513 (GRCm39)	T157S	probably damaging	Het
Macf1	A	C	4: 123,420,445 (GRCm39)	C270G	probably benign	Het
Marveld3	A	G	8: 110,674,943 (GRCm39)	V291A	probably benign	Het
Med23	T	C	10: 24,786,645 (GRCm39)	F917S	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Ncan	A	T	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Or1e23	A	T	11: 73,407,998 (GRCm39)	I9N	possibly damaging	Het
Or4x6	T	A	2: 89,949,121 (GRCm39)	T274S	probably damaging	Het
Or52h2	T	C	7: 103,839,387 (GRCm39)	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,672,467 (GRCm39)	W34R	probably damaging	Het
Plekha7	A	G	7: 115,757,363 (GRCm39)	F529S	probably damaging	Het
Potefam1	T	C	2: 111,048,961 (GRCm39)	K273E	probably benign	Het
Ppl	T	A	16: 4,922,846 (GRCm39)	D215V	probably damaging	Het
Pramel15	A	T	4: 144,104,502 (GRCm39)	M1K	probably null	Het
Prdm1	T	A	10: 44,316,165 (GRCm39)	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,329,570 (GRCm39)	D124V	probably damaging	Het
Ptprc	C	A	1: 138,027,235 (GRCm39)	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,303,505 (GRCm39)	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,688,023 (GRCm39)	Y657F	probably benign	Het
Rrn3	T	C	16: 13,617,836 (GRCm39)	C360R	probably damaging	Het
Scarb1	T	C	5: 125,374,363 (GRCm39)	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,443,219 (GRCm39)	M6K	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Taar3	T	A	10: 23,826,441 (GRCm39)	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,703,108 (GRCm39)	N285K	probably benign	Het
Tcstv7b	A	G	13: 120,702,384 (GRCm39)	Y60C	probably damaging	Het
Tnni2	A	T	7: 141,996,430 (GRCm39)	E4V	probably benign	Het
Tnpo2	A	T	8: 85,776,654 (GRCm39)	I454F	probably damaging	Het
Tpr	T	G	1: 150,308,316 (GRCm39)	H1690Q	probably benign	Het
Trav18	T	C	14: 54,068,577 (GRCm39)	S6P	probably benign	Het
Trf	T	C	9: 103,096,445 (GRCm39)	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,044,892 (GRCm39)	M1V	probably null	Het
Wdr64	T	C	1: 175,552,268 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,943 (GRCm39)	S222G	probably benign	Het

Other mutations in Slco4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01745:Slco4a1	APN	2	180,106,472 (GRCm39)	missense	probably damaging	1.00
IGL01982:Slco4a1	APN	2	180,114,946 (GRCm39)	missense	probably benign	0.03
IGL02297:Slco4a1	APN	2	180,106,282 (GRCm39)	missense	probably benign	0.16
IGL02368:Slco4a1	APN	2	180,114,921 (GRCm39)	missense	probably damaging	0.98
conduit	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
ingress	UTSW	2	180,107,470 (GRCm39)	missense	probably benign
R1621:Slco4a1	UTSW	2	180,112,925 (GRCm39)	missense	probably benign	0.01
R2275:Slco4a1	UTSW	2	180,106,529 (GRCm39)	missense	possibly damaging	0.94
R2472:Slco4a1	UTSW	2	180,108,880 (GRCm39)	missense	probably damaging	1.00
R3851:Slco4a1	UTSW	2	180,105,884 (GRCm39)	missense	probably benign	0.00
R3852:Slco4a1	UTSW	2	180,105,884 (GRCm39)	missense	probably benign	0.00
R4271:Slco4a1	UTSW	2	180,116,003 (GRCm39)	missense	possibly damaging	0.85
R4439:Slco4a1	UTSW	2	180,114,455 (GRCm39)	missense	probably benign	0.02
R4571:Slco4a1	UTSW	2	180,106,171 (GRCm39)	missense	probably benign	0.32
R4732:Slco4a1	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
R4733:Slco4a1	UTSW	2	180,115,408 (GRCm39)	missense	probably damaging	1.00
R5156:Slco4a1	UTSW	2	180,114,572 (GRCm39)	missense	probably benign	0.01
R5186:Slco4a1	UTSW	2	180,114,901 (GRCm39)	missense	probably damaging	1.00
R5252:Slco4a1	UTSW	2	180,106,252 (GRCm39)	missense	possibly damaging	0.48
R5426:Slco4a1	UTSW	2	180,113,028 (GRCm39)	missense	possibly damaging	0.84
R5470:Slco4a1	UTSW	2	180,115,907 (GRCm39)	missense	probably benign	0.00
R5512:Slco4a1	UTSW	2	180,115,907 (GRCm39)	missense	possibly damaging	0.91
R6969:Slco4a1	UTSW	2	180,106,601 (GRCm39)	missense	probably benign
R7133:Slco4a1	UTSW	2	180,113,856 (GRCm39)	missense	possibly damaging	0.93
R7249:Slco4a1	UTSW	2	180,106,604 (GRCm39)	missense	probably benign	0.01
R7357:Slco4a1	UTSW	2	180,113,930 (GRCm39)	missense	probably benign	0.00
R7442:Slco4a1	UTSW	2	180,115,919 (GRCm39)	missense	probably benign
R7599:Slco4a1	UTSW	2	180,113,048 (GRCm39)	missense	probably benign
R7750:Slco4a1	UTSW	2	180,113,030 (GRCm39)	missense	probably benign	0.30
R7834:Slco4a1	UTSW	2	180,107,470 (GRCm39)	missense	probably benign
R8203:Slco4a1	UTSW	2	180,106,592 (GRCm39)	missense	probably damaging	0.96
R8504:Slco4a1	UTSW	2	180,106,592 (GRCm39)	missense	probably damaging	0.96
R9166:Slco4a1	UTSW	2	180,106,034 (GRCm39)	missense	probably benign	0.00
R9170:Slco4a1	UTSW	2	180,106,478 (GRCm39)	missense	probably benign	0.00
R9210:Slco4a1	UTSW	2	180,114,271 (GRCm39)	missense	probably damaging	1.00
R9455:Slco4a1	UTSW	2	180,115,370 (GRCm39)	missense	probably benign	0.05
R9516:Slco4a1	UTSW	2	180,115,943 (GRCm39)	missense	possibly damaging	0.93
Z1177:Slco4a1	UTSW	2	180,106,357 (GRCm39)	nonsense	probably null
Z1177:Slco4a1	UTSW	2	180,106,174 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGATGCCCACACCTGATAGC -3'
(R):5'- TAGGGTCTCTACTAGGCTCACC -3'

Sequencing Primer
(F):5'- TCACTGGGCTCTGGGCTTC -3'
(R):5'- AACGTAGCCGGTGGTCACAC -3'

Posted On

2017-12-01