Mutagenetix > Incidental Mutation

Incidental Mutation 'R1082:Slco1a7'

85866

Institutional Source

Beutler Lab

Gene Symbol

Slco1a7

Ensembl Gene

ENSMUSG00000084927

Gene Name

solute carrier organic anion transporter family, member 1a7

Synonyms

Gm5724

MMRRC Submission

039168-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141653844-141719536 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141657859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 560 (G560S)

Ref Sequence

ENSEMBL: ENSMUSP00000117177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000148411]

AlphaFold

L7N264

Predicted Effect

probably damaging
Transcript: ENSMUST00000148411
AA Change: G560S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: G560S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	405	3.4e-26	PFAM
KAZAL	438	484	1.71e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158240

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	G	A	3: 137,879,332 (GRCm39)	R239C	possibly damaging	Het
Aass	T	A	6: 23,093,907 (GRCm39)	D138V	probably damaging	Het
Adam30	T	C	3: 98,069,606 (GRCm39)	S480P	probably benign	Het
Bdkrb2	T	A	12: 105,558,851 (GRCm39)	M364K	probably benign	Het
Bnc2	T	C	4: 84,464,572 (GRCm39)	D67G	probably damaging	Het
Cfap52	A	G	11: 67,815,998 (GRCm39)	I595T	probably damaging	Het
Clspn	A	T	4: 126,471,572 (GRCm39)	N909Y	possibly damaging	Het
Ddx46	T	C	13: 55,802,909 (GRCm39)	V477A	possibly damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Dnah3	A	G	7: 119,677,668 (GRCm39)	S419P	probably damaging	Het
Fat3	A	G	9: 15,917,911 (GRCm39)	F1504S	probably damaging	Het
Guf1	G	T	5: 69,724,555 (GRCm39)	V416L	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,783 (GRCm39)	D298G	probably damaging	Het
Mipol1	A	T	12: 57,372,402 (GRCm39)	I154F	probably damaging	Het
Myo18b	A	G	5: 112,908,280 (GRCm39)	S1998P	probably damaging	Het
Myo6	C	T	9: 80,195,303 (GRCm39)	T891M	probably damaging	Het
Nbeal1	T	A	1: 60,351,385 (GRCm39)	I2461K	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or7e178	A	T	9: 20,225,765 (GRCm39)	H150Q	possibly damaging	Het
Pi4ka	A	T	16: 17,207,216 (GRCm39)	S30T	probably damaging	Het
Ppp1r26	A	G	2: 28,342,146 (GRCm39)	D592G	probably damaging	Het
Ptp4a2	T	C	4: 129,741,580 (GRCm39)	F157L	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Shank3	T	C	15: 89,433,574 (GRCm39)	S1365P	probably damaging	Het
Slc27a6	T	A	18: 58,689,632 (GRCm39)	Y33N	probably damaging	Het
Speg	T	A	1: 75,391,782 (GRCm39)	S1572T	possibly damaging	Het
Taf6	G	A	5: 138,180,949 (GRCm39)	R211C	possibly damaging	Het
Tyrobp	T	C	7: 30,114,033 (GRCm39)	S65P	probably damaging	Het

Other mutations in Slco1a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Slco1a7	APN	6	141,700,155 (GRCm39)	missense	probably benign	0.14
IGL01347:Slco1a7	APN	6	141,700,192 (GRCm39)	nonsense	probably null
IGL01539:Slco1a7	APN	6	141,673,333 (GRCm39)	missense	possibly damaging	0.88
IGL01613:Slco1a7	APN	6	141,658,940 (GRCm39)	missense	possibly damaging	0.67
IGL02060:Slco1a7	APN	6	141,700,134 (GRCm39)	missense	probably benign	0.00
IGL02063:Slco1a7	APN	6	141,684,615 (GRCm39)	missense	probably benign	0.01
IGL02126:Slco1a7	APN	6	141,684,739 (GRCm39)	missense	probably benign	0.29
IGL02214:Slco1a7	APN	6	141,668,911 (GRCm39)	missense	possibly damaging	0.50
IGL02630:Slco1a7	APN	6	141,668,836 (GRCm39)	missense	probably damaging	1.00
R0966:Slco1a7	UTSW	6	141,673,299 (GRCm39)	missense	probably benign	0.00
R1433:Slco1a7	UTSW	6	141,711,429 (GRCm39)	missense	probably benign	0.00
R1571:Slco1a7	UTSW	6	141,700,135 (GRCm39)	nonsense	probably null
R1765:Slco1a7	UTSW	6	141,700,084 (GRCm39)	splice site	probably benign
R2055:Slco1a7	UTSW	6	141,671,181 (GRCm39)	missense	probably benign	0.33
R2174:Slco1a7	UTSW	6	141,673,319 (GRCm39)	nonsense	probably null
R2495:Slco1a7	UTSW	6	141,711,503 (GRCm39)	missense	probably benign	0.02
R2857:Slco1a7	UTSW	6	141,690,264 (GRCm39)	missense	probably benign	0.35
R3551:Slco1a7	UTSW	6	141,654,322 (GRCm39)	missense	probably benign	0.20
R3824:Slco1a7	UTSW	6	141,700,100 (GRCm39)	missense	possibly damaging	0.50
R3912:Slco1a7	UTSW	6	141,673,362 (GRCm39)	missense	probably damaging	0.97
R3942:Slco1a7	UTSW	6	141,673,440 (GRCm39)	missense	probably damaging	0.98
R4161:Slco1a7	UTSW	6	141,654,322 (GRCm39)	missense	probably benign	0.20
R4168:Slco1a7	UTSW	6	141,684,673 (GRCm39)	missense	probably benign	0.03
R4395:Slco1a7	UTSW	6	141,657,844 (GRCm39)	missense	probably benign	0.02
R4720:Slco1a7	UTSW	6	141,668,948 (GRCm39)	missense	probably damaging	1.00
R4732:Slco1a7	UTSW	6	141,668,905 (GRCm39)	missense	probably benign	0.01
R4733:Slco1a7	UTSW	6	141,668,905 (GRCm39)	missense	probably benign	0.01
R4794:Slco1a7	UTSW	6	141,713,288 (GRCm39)	missense	probably benign	0.11
R5062:Slco1a7	UTSW	6	141,713,180 (GRCm39)	missense	possibly damaging	0.46
R5389:Slco1a7	UTSW	6	141,686,193 (GRCm39)	missense	probably benign	0.12
R5419:Slco1a7	UTSW	6	141,681,826 (GRCm39)	splice site	probably null
R5423:Slco1a7	UTSW	6	141,690,188 (GRCm39)	missense	probably damaging	1.00
R5704:Slco1a7	UTSW	6	141,658,980 (GRCm39)	missense	probably benign	0.00
R5973:Slco1a7	UTSW	6	141,700,182 (GRCm39)	missense	probably benign	0.01
R6041:Slco1a7	UTSW	6	141,684,764 (GRCm39)	missense	probably benign	0.11
R6284:Slco1a7	UTSW	6	141,671,119 (GRCm39)	missense	probably damaging	1.00
R6395:Slco1a7	UTSW	6	141,668,818 (GRCm39)	splice site	probably null
R6993:Slco1a7	UTSW	6	141,711,468 (GRCm39)	missense	possibly damaging	0.94
R7149:Slco1a7	UTSW	6	141,690,178 (GRCm39)	missense	probably damaging	1.00
R7159:Slco1a7	UTSW	6	141,719,504 (GRCm39)	start codon destroyed	probably damaging	1.00
R7627:Slco1a7	UTSW	6	141,690,271 (GRCm39)	missense	probably damaging	1.00
R7784:Slco1a7	UTSW	6	141,658,919 (GRCm39)	critical splice donor site	probably null
R7873:Slco1a7	UTSW	6	141,673,448 (GRCm39)	missense	probably benign	0.44
R8670:Slco1a7	UTSW	6	141,711,468 (GRCm39)	missense	possibly damaging	0.94
R8720:Slco1a7	UTSW	6	141,668,852 (GRCm39)	missense	probably benign	0.01
R9124:Slco1a7	UTSW	6	141,668,830 (GRCm39)	missense	possibly damaging	0.81
R9238:Slco1a7	UTSW	6	141,686,153 (GRCm39)	missense	probably damaging	0.98
R9381:Slco1a7	UTSW	6	141,711,490 (GRCm39)	missense	probably benign	0.00
X0020:Slco1a7	UTSW	6	141,700,091 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGGAACAGAGACATTTTATGCACCATT -3'
(R):5'- CCCACTTTACCTGAACTTCAGCTTACAA -3'

Sequencing Primer
(F):5'- TATCCTGCATGCGGCTTT -3'
(R):5'- AAACCCTTCTGTTTAGAGCTGG -3'

Posted On

2013-11-18