Mutagenetix > Incidental Mutation

Incidental Mutation 'R6909:Slc10a5'

538907

Institutional Source

Beutler Lab

Gene Symbol

Slc10a5

Ensembl Gene

ENSMUSG00000058921

Gene Name

solute carrier family 10 (sodium/bile acid cotransporter family), member 5

Synonyms

LOC241877

MMRRC Submission

045001-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R6909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10396794-10400716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10400655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000141735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037839] [ENSMUST00000065938] [ENSMUST00000078748] [ENSMUST00000118410] [ENSMUST00000128912] [ENSMUST00000191670] [ENSMUST00000192603]

AlphaFold

Q5PT54

Predicted Effect

probably benign
Transcript: ENSMUST00000037839

SMART Domains

Protein: ENSMUSP00000037459
Gene: ENSMUSG00000039795

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	1.4e-8	SMART
ZnF_AN1	64	103	2.64e-4	SMART
low complexity region	121	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065938

SMART Domains

Protein: ENSMUSP00000068174
Gene: ENSMUSG00000027531

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	5	271	1.5e-86	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078748
AA Change: S2P

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921
AA Change: S2P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:SBF	144	328	1.1e-34	PFAM
transmembrane domain	336	358	N/A	INTRINSIC
transmembrane domain	365	384	N/A	INTRINSIC
transmembrane domain	394	416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118410

SMART Domains

Protein: ENSMUSP00000113860
Gene: ENSMUSG00000027531

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	5	271	7.7e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128912

SMART Domains

Protein: ENSMUSP00000116088
Gene: ENSMUSG00000027531

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	19	90	4.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191670

SMART Domains

Protein: ENSMUSP00000141345
Gene: ENSMUSG00000027531

Domain	Start	End	E-Value	Type
Pfam:Inositol_P	5	180	4.7e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192603
AA Change: S2P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141735
Gene: ENSMUSG00000103392
AA Change: S2P

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	69	85	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,006,323 (GRCm39)	Q1261K	probably benign	Het
Acp3	T	C	9: 104,178,164 (GRCm39)	Y329C	probably damaging	Het
Agrn	G	T	4: 156,261,464 (GRCm39)	H585N	possibly damaging	Het
Ano1	G	A	7: 144,209,468 (GRCm39)	T211M	probably damaging	Het
Atic	T	G	1: 71,616,005 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,957,781 (GRCm39)	S229R	probably damaging	Het
Ccdc168	C	T	1: 44,098,935 (GRCm39)	R721Q	possibly damaging	Het
Cfap210	A	T	2: 69,612,192 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,425,815 (GRCm39)	Y418C	probably damaging	Het
Cibar1	T	C	4: 12,168,309 (GRCm39)	T97A	probably benign	Het
Cmya5	T	C	13: 93,227,760 (GRCm39)	T2443A	probably benign	Het
Dysf	A	T	6: 84,169,920 (GRCm39)	E1772V	probably damaging	Het
Eps8l1	T	A	7: 4,472,899 (GRCm39)	L107*	probably null	Het
Fpr3	T	A	17: 18,191,429 (GRCm39)	F233L	probably benign	Het
Gjc2	A	T	11: 59,067,918 (GRCm39)	V188E	unknown	Het
Gm45861	T	A	8: 28,017,109 (GRCm39)	Y690N	unknown	Het
Gsdma2	T	A	11: 98,543,383 (GRCm39)	C224*	probably null	Het
Gucy2d	T	A	7: 98,116,832 (GRCm39)	Y881N	probably damaging	Het
Hcn3	A	G	3: 89,059,936 (GRCm39)		probably null	Het
Hectd1	G	T	12: 51,810,945 (GRCm39)		probably null	Het
Ifitm5	A	G	7: 140,529,172 (GRCm39)	F146L	probably benign	Het
Impg2	T	C	16: 56,024,947 (GRCm39)	F18S	probably damaging	Het
Ino80c	T	A	18: 24,241,812 (GRCm39)		probably benign	Het
Itga10	A	G	3: 96,569,915 (GRCm39)	H1109R	probably benign	Het
Kdm3b	T	A	18: 34,960,381 (GRCm39)		probably null	Het
Klra8	T	G	6: 130,102,123 (GRCm39)	N104T	probably benign	Het
Llgl2	G	A	11: 115,741,625 (GRCm39)	C585Y	probably damaging	Het
Lmod2	T	A	6: 24,604,157 (GRCm39)	D377E	probably benign	Het
Lrat	G	A	3: 82,810,961 (GRCm39)	S20F	probably damaging	Het
Lrrc43	T	A	5: 123,638,482 (GRCm39)	H363Q	probably benign	Het
Lyst	T	G	13: 13,917,960 (GRCm39)	I3340S	probably damaging	Het
Magi1	C	A	6: 93,674,301 (GRCm39)	G948W	probably damaging	Het
Map3k4	A	C	17: 12,489,872 (GRCm39)	F520V	probably damaging	Het
Mcm4	A	T	16: 15,446,561 (GRCm39)	N607K	probably damaging	Het
Mta3	T	C	17: 84,073,980 (GRCm39)	V216A	possibly damaging	Het
Ncor1	C	A	11: 62,220,312 (GRCm39)	G2131V	probably damaging	Het
Or10ag2	A	G	2: 87,248,959 (GRCm39)	H189R	probably damaging	Het
Or2z9	T	A	8: 72,854,372 (GRCm39)	V256E	possibly damaging	Het
Or5d16	A	G	2: 87,773,034 (GRCm39)	S313P	probably benign	Het
Or9k7	T	A	10: 130,046,622 (GRCm39)	I126L	probably benign	Het
Pramel12	T	C	4: 143,144,479 (GRCm39)	L275P	probably damaging	Het
Ptpn2	A	T	18: 67,809,041 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,856 (GRCm39)	I1671T	probably damaging	Het
Scyl2	A	T	10: 89,481,604 (GRCm39)	S622T	probably benign	Het
Sim1	C	T	10: 50,785,506 (GRCm39)	R192C	possibly damaging	Het
Skor2	A	G	18: 76,948,252 (GRCm39)	H658R	possibly damaging	Het
Slc37a4	A	T	9: 44,311,331 (GRCm39)	K207N	possibly damaging	Het
Syne2	G	T	12: 76,110,969 (GRCm39)	V5768L	probably benign	Het
Tdpoz3	T	A	3: 93,733,772 (GRCm39)	V149E	probably damaging	Het
Tekt5	T	C	16: 10,176,165 (GRCm39)	N460S	probably damaging	Het
Tk2	G	T	8: 104,963,442 (GRCm39)	Y142*	probably null	Het
Tkfc	T	A	19: 10,573,630 (GRCm39)	Q236L	probably benign	Het
Tln2	G	A	9: 67,299,814 (GRCm39)	T148I	probably damaging	Het
Trim62	A	G	4: 128,778,021 (GRCm39)	D20G	probably damaging	Het
Tspan14	A	C	14: 40,635,398 (GRCm39)	V166G	probably benign	Het
Ttn	A	T	2: 76,712,065 (GRCm39)		probably benign	Het
Vmn1r217	T	A	13: 23,298,108 (GRCm39)	M265L	probably benign	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Zfp87	T	C	13: 74,519,861 (GRCm39)	T406A	possibly damaging	Het

Other mutations in Slc10a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Slc10a5	APN	3	10,400,369 (GRCm39)	missense	probably benign	0.05
IGL01785:Slc10a5	APN	3	10,400,259 (GRCm39)	missense	probably benign	0.00
IGL01823:Slc10a5	APN	3	10,399,574 (GRCm39)	missense	possibly damaging	0.93
IGL01915:Slc10a5	APN	3	10,400,580 (GRCm39)	missense	probably damaging	0.98
IGL02522:Slc10a5	APN	3	10,400,181 (GRCm39)	missense	probably benign	0.09
IGL02721:Slc10a5	APN	3	10,399,595 (GRCm39)	missense	probably benign	0.01
PIT4382001:Slc10a5	UTSW	3	10,400,507 (GRCm39)	missense	probably benign
R0558:Slc10a5	UTSW	3	10,400,177 (GRCm39)	missense	probably damaging	1.00
R0961:Slc10a5	UTSW	3	10,399,484 (GRCm39)	missense	probably benign	0.00
R1747:Slc10a5	UTSW	3	10,400,451 (GRCm39)	missense	probably benign	0.04
R1889:Slc10a5	UTSW	3	10,400,550 (GRCm39)	missense	probably benign	0.33
R2130:Slc10a5	UTSW	3	10,400,278 (GRCm39)	missense	probably benign
R2171:Slc10a5	UTSW	3	10,400,342 (GRCm39)	missense	possibly damaging	0.59
R2970:Slc10a5	UTSW	3	10,400,127 (GRCm39)	missense	probably damaging	1.00
R2972:Slc10a5	UTSW	3	10,399,517 (GRCm39)	missense	probably damaging	0.98
R2973:Slc10a5	UTSW	3	10,399,517 (GRCm39)	missense	probably damaging	0.98
R4241:Slc10a5	UTSW	3	10,400,520 (GRCm39)	missense	probably damaging	1.00
R4700:Slc10a5	UTSW	3	10,400,360 (GRCm39)	missense	probably damaging	1.00
R4700:Slc10a5	UTSW	3	10,400,359 (GRCm39)	missense	probably damaging	1.00
R4790:Slc10a5	UTSW	3	10,400,096 (GRCm39)	missense	probably damaging	1.00
R4834:Slc10a5	UTSW	3	10,399,859 (GRCm39)	missense	probably damaging	0.97
R4891:Slc10a5	UTSW	3	10,399,685 (GRCm39)	missense	possibly damaging	0.79
R5220:Slc10a5	UTSW	3	10,400,148 (GRCm39)	nonsense	probably null
R5548:Slc10a5	UTSW	3	10,399,377 (GRCm39)	missense	probably benign
R5748:Slc10a5	UTSW	3	10,400,391 (GRCm39)	missense	probably benign	0.00
R6573:Slc10a5	UTSW	3	10,400,110 (GRCm39)	missense	probably damaging	1.00
R7355:Slc10a5	UTSW	3	10,399,375 (GRCm39)	nonsense	probably null
R7807:Slc10a5	UTSW	3	10,400,529 (GRCm39)	missense	probably benign	0.00
R7866:Slc10a5	UTSW	3	10,399,532 (GRCm39)	missense	probably damaging	0.99
R8219:Slc10a5	UTSW	3	10,400,384 (GRCm39)	missense	probably benign	0.32
R8975:Slc10a5	UTSW	3	10,399,670 (GRCm39)	missense	probably benign	0.17
R9044:Slc10a5	UTSW	3	10,399,792 (GRCm39)	missense	probably damaging	1.00
R9514:Slc10a5	UTSW	3	10,400,532 (GRCm39)	missense	possibly damaging	0.83
Z1176:Slc10a5	UTSW	3	10,399,547 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCTAACTTCACGAGCAGGTAG -3'
(R):5'- AAACTGGTTGTGTCGCTTGC -3'

Sequencing Primer
(F):5'- CAGGTAGCTGGAGTGAGGCTG -3'
(R):5'- TGTCGCTTGCTCACTAGATAG -3'

Posted On

2018-11-06