Mutagenetix > Incidental Mutations

Incidental Mutation 'R2362:Slc10a7'

247188

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

040343-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.852) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78509346-78734003 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78509632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 20 (I20V)

Ref Sequence

ENSEMBL: ENSMUSP00000147396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034111] [ENSMUST00000049245] [ENSMUST00000209490] [ENSMUST00000209992] [ENSMUST00000210515] [ENSMUST00000210630] [ENSMUST00000211286] [ENSMUST00000211719]

AlphaFold

Q5PT53

Predicted Effect

probably damaging
Transcript: ENSMUST00000034111
AA Change: I20V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: I20V

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: ENSMUST00000049245

SMART Domains

Protein: ENSMUSP00000048153
Gene: ENSMUSG00000037070

Domain	Start	End	E-Value	Type
RRM	9	82	2.31e-28	SMART
low complexity region	91	124	N/A	INTRINSIC
low complexity region	145	168	N/A	INTRINSIC
Pfam:RBM1CTR	170	214	5.5e-26	PFAM
low complexity region	215	231	N/A	INTRINSIC
low complexity region	236	271	N/A	INTRINSIC
low complexity region	300	338	N/A	INTRINSIC
low complexity region	352	387	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209490
AA Change: I20V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209992
AA Change: I20V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210515
AA Change: I20V

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210630
AA Change: I20V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211286
AA Change: I20V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211332

Predicted Effect

probably benign
Transcript: ENSMUST00000211719

Meta Mutation Damage Score

0.1332

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Slc10a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00802:Slc10a7	APN	8	78698580	splice site	probably benign
IGL01589:Slc10a7	APN	8	78729740	missense	probably damaging	0.98
IGL01868:Slc10a7	APN	8	78697336	splice site	probably null
IGL02197:Slc10a7	APN	8	78515663	missense	probably damaging	0.98
IGL02205:Slc10a7	APN	8	78697303	missense	probably benign	0.04
IGL03128:Slc10a7	APN	8	78525217	missense	probably damaging	1.00
R0123:Slc10a7	UTSW	8	78697158	splice site	probably null
R0134:Slc10a7	UTSW	8	78697158	splice site	probably null
R1973:Slc10a7	UTSW	8	78697333	critical splice donor site	probably null
R2266:Slc10a7	UTSW	8	78509635	missense	probably benign	0.02
R4756:Slc10a7	UTSW	8	78706950	critical splice donor site	probably null
R5454:Slc10a7	UTSW	8	78686624	missense	possibly damaging	0.71
R5753:Slc10a7	UTSW	8	78525299	critical splice donor site	probably null
R6621:Slc10a7	UTSW	8	78515634	missense	probably damaging	1.00
R7814:Slc10a7	UTSW	8	78698573	critical splice donor site	probably null
R7977:Slc10a7	UTSW	8	78697214	missense	probably benign	0.13
R7987:Slc10a7	UTSW	8	78697214	missense	probably benign	0.13
R9141:Slc10a7	UTSW	8	78509612	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TTGACTTGCTCTGCTGCATG -3'
(R):5'- TGATTGCCCGCAGAAAAGG -3'

Sequencing Primer
(F):5'- CTCTGCTGCATGTCTGGAG -3'
(R):5'- TCCTGGGCTAGCAAGTGAG -3'

Posted On

2014-10-30