Mutagenetix > Incidental Mutation

Incidental Mutation 'R7987:Slc10a7'

651538

Institutional Source

Beutler Lab

Gene Symbol

Slc10a7

Ensembl Gene

ENSMUSG00000031684

Gene Name

solute carrier family 10 (sodium/bile acid cotransporter family), member 7

Synonyms

2410193C02Rik

MMRRC Submission

046028-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.840) question?

Stock #

R7987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79235975-79460632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79423843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 202 (F202I)

Ref Sequence

ENSEMBL: ENSMUSP00000034111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286]

AlphaFold

Q5PT53

Predicted Effect

probably benign
Transcript: ENSMUST00000034111
AA Change: F202I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: F202I

Domain	Start	End	E-Value	Type
Pfam:SBF_like	10	324	1.9e-82	PFAM
Pfam:SBF	44	224	2.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209490
AA Change: F202I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000209992
AA Change: F174I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000210515

Predicted Effect

probably benign
Transcript: ENSMUST00000210630

Predicted Effect

probably benign
Transcript: ENSMUST00000211286
AA Change: F202I

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,464,317 (GRCm39)	Q161K	unknown	Het
Acsl5	T	C	19: 55,266,405 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,754,987 (GRCm39)	I695N	possibly damaging	Het
Ank2	T	C	3: 126,739,356 (GRCm39)	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,797,050 (GRCm39)	G810D	probably damaging	Het
Bod1l	A	C	5: 41,952,413 (GRCm39)	N2868K	probably damaging	Het
Brd7	T	C	8: 89,060,769 (GRCm39)	T526A	probably benign	Het
C9	T	A	15: 6,496,943 (GRCm39)	Y213*	probably null	Het
Cacna1i	G	A	15: 80,204,553 (GRCm39)		probably null	Het
Card6	T	A	15: 5,130,007 (GRCm39)	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,525,319 (GRCm39)	Y485C	probably damaging	Het
Celsr1	A	G	15: 85,917,194 (GRCm39)	F260L	probably damaging	Het
Dnah8	A	G	17: 30,963,498 (GRCm39)	D2304G	probably damaging	Het
Dnase1	A	G	16: 3,855,834 (GRCm39)	D55G	probably damaging	Het
Ecsit	C	A	9: 21,984,780 (GRCm39)	R296L	probably damaging	Het
Entpd8	A	G	2: 24,974,778 (GRCm39)	D403G	probably damaging	Het
Epha2	C	A	4: 141,035,791 (GRCm39)	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,691,432 (GRCm39)	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,225,979 (GRCm39)	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,282,812 (GRCm39)	M2R	probably benign	Het
Gpr146	G	T	5: 139,378,440 (GRCm39)	A81S	possibly damaging	Het
Heg1	C	A	16: 33,541,100 (GRCm39)	S419*	probably null	Het
Hps5	A	C	7: 46,418,475 (GRCm39)	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,882,532 (GRCm39)	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,865 (GRCm39)	M342R	probably damaging	Het
Itgal	A	G	7: 126,927,470 (GRCm39)	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,719,931 (GRCm39)	T1428A	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,959 (GRCm39)	D893G	probably benign	Het
Mst1r	A	T	9: 107,789,997 (GRCm39)		probably null	Het
Mtus2	G	T	5: 148,168,836 (GRCm39)		probably null	Het
Myo3b	A	G	2: 70,161,277 (GRCm39)	T1174A	probably benign	Het
Nsun5	G	A	5: 135,404,534 (GRCm39)	R424H	probably damaging	Het
Oacyl	A	G	18: 65,831,462 (GRCm39)	E33G	probably benign	Het
Or6c66	T	C	10: 129,461,838 (GRCm39)	I31V	probably benign	Het
Or7d10	T	C	9: 19,831,610 (GRCm39)	F35S	possibly damaging	Het
Palm	C	T	10: 79,629,539 (GRCm39)		probably benign	Het
Papln	A	G	12: 83,822,156 (GRCm39)	E337G	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Setd1b	A	G	5: 123,285,743 (GRCm39)	D263G	unknown	Het
Smpd3	T	C	8: 106,986,526 (GRCm39)	I455V	probably benign	Het
Snip1	G	T	4: 124,960,732 (GRCm39)	G63W	probably damaging	Het
Sorl1	T	A	9: 41,888,857 (GRCm39)	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,332,820 (GRCm39)	T36A	probably benign	Het
Tnxb	T	C	17: 34,929,194 (GRCm39)	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,735,681 (GRCm39)	P96L	probably damaging	Het
Triobp	T	A	15: 78,885,744 (GRCm39)	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,698,318 (GRCm39)	I647T	probably benign	Het
Ttn	A	G	2: 76,721,905 (GRCm39)	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,580,025 (GRCm39)	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,159 (GRCm39)	I116T	probably benign	Het
Vmn1r26	A	T	6: 57,985,264 (GRCm39)	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,488,015 (GRCm39)	T296I	probably damaging	Het
Vmn2r50	T	C	7: 9,772,016 (GRCm39)	T562A	probably benign	Het
Wdfy2	A	G	14: 63,189,380 (GRCm39)	D283G	possibly damaging	Het

Other mutations in Slc10a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Slc10a7	APN	8	79,425,209 (GRCm39)	splice site	probably benign
IGL01589:Slc10a7	APN	8	79,456,369 (GRCm39)	missense	probably damaging	0.98
IGL01868:Slc10a7	APN	8	79,423,965 (GRCm39)	splice site	probably null
IGL02197:Slc10a7	APN	8	79,242,292 (GRCm39)	missense	probably damaging	0.98
IGL02205:Slc10a7	APN	8	79,423,932 (GRCm39)	missense	probably benign	0.04
IGL03128:Slc10a7	APN	8	79,251,846 (GRCm39)	missense	probably damaging	1.00
R0123:Slc10a7	UTSW	8	79,423,787 (GRCm39)	splice site	probably null
R0134:Slc10a7	UTSW	8	79,423,787 (GRCm39)	splice site	probably null
R1973:Slc10a7	UTSW	8	79,423,962 (GRCm39)	critical splice donor site	probably null
R2266:Slc10a7	UTSW	8	79,236,264 (GRCm39)	missense	probably benign	0.02
R2362:Slc10a7	UTSW	8	79,236,261 (GRCm39)	missense	probably damaging	0.99
R4756:Slc10a7	UTSW	8	79,433,579 (GRCm39)	critical splice donor site	probably null
R5454:Slc10a7	UTSW	8	79,413,253 (GRCm39)	missense	possibly damaging	0.71
R5753:Slc10a7	UTSW	8	79,251,928 (GRCm39)	critical splice donor site	probably null
R6621:Slc10a7	UTSW	8	79,242,263 (GRCm39)	missense	probably damaging	1.00
R7814:Slc10a7	UTSW	8	79,425,202 (GRCm39)	critical splice donor site	probably null
R7977:Slc10a7	UTSW	8	79,423,843 (GRCm39)	missense	probably benign	0.13
R9141:Slc10a7	UTSW	8	79,236,241 (GRCm39)	missense	probably benign	0.12
R9586:Slc10a7	UTSW	8	79,456,266 (GRCm39)	missense	probably damaging	1.00
R9684:Slc10a7	UTSW	8	79,456,304 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACTGAATTCCCCAGAAGAAGAATGG -3'
(R):5'- CAGAGAGCGTGGAATTGCTG -3'

Sequencing Primer
(F):5'- GAAGCTTTGAAATCCACTGTGGCC -3'
(R):5'- GAACTTGTCCAGGTCGAT -3'

Posted On

2020-09-15