Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Slco1a7'

599435

Institutional Source

Beutler Lab

Gene Symbol

Slco1a7

Ensembl Gene

ENSMUSG00000084927

Gene Name

solute carrier organic anion transporter family, member 1a7

Synonyms

Gm5724

MMRRC Submission

045840-MU

Accession Numbers

Essential gene?

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

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141653844-141719536 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 141658919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117177 (fasta)

Gene Model

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

AlphaFold

L7N264

Predicted Effect

probably null
Transcript: ENSMUST00000148411

SMART Domains

Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Cpb2	A	T	14: 75,512,480 (GRCm39)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Mtmr6	A	G	14: 60,537,894 (GRCm39)	D593G	probably benign	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or12d13	T	C	17: 37,647,469 (GRCm39)	Y218C	probably benign	Het
Or12d13	A	G	17: 37,647,946 (GRCm39)	F59S	probably damaging	Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rbp3	A	T	14: 33,676,115 (GRCm39)	H21L	probably benign	Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,639,936 (GRCm39)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,889,114 (GRCm39)	E66V	probably damaging	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	possibly 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
R1082:Slco1a7	UTSW	6	141,657,859 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGGTCATGGGTCAGTCTGG -3'
(R):5'- TACCACTGTCATTAAGAGGATGC -3'

Sequencing Primer
(F):5'- GAATTCCACGCTTGCTGTAAAC -3'
(R):5'- CCACTGTCATTAAGAGGATGCTAAGG -3'

Posted On

2019-11-26