Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Slc10a5'

554666

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

Accession Numbers

Essential gene?

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

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10396794-10400716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10400507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000077808 (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

probably benign
Transcript: ENSMUST00000078748
AA Change: D51G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077808
Gene: ENSMUSG00000058921
AA Change: D51G

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

probably benign
Transcript: ENSMUST00000192603
AA Change: D51G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141735
Gene: ENSMUSG00000103392
AA Change: D51G

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 136,978,711 (GRCm39)	H144N	unknown	Het
Acsm4	C	T	7: 119,297,798 (GRCm39)	T145M	probably damaging	Het
Adam10	T	C	9: 70,673,363 (GRCm39)	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Alk	T	C	17: 72,256,916 (GRCm39)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,297,794 (GRCm39)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,480 (GRCm39)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,411,219 (GRCm39)	V16M	probably damaging	Het
Chil3	T	G	3: 106,055,975 (GRCm39)	D366A	probably damaging	Het
Chuk	A	G	19: 44,087,046 (GRCm39)	V151A	probably damaging	Het
Cpd	T	G	11: 76,688,614 (GRCm39)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,449 (GRCm39)	C736*	probably null	Het
Creb3l3	T	C	10: 80,920,746 (GRCm39)	E428G	probably benign	Het
Csad	G	A	15: 102,097,085 (GRCm39)	L7F	probably benign	Het
Dnah1	C	T	14: 31,006,412 (GRCm39)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,728,508 (GRCm39)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 138,669,494 (GRCm39)	Y57*	probably null	Het
F2rl1	T	G	13: 95,650,154 (GRCm39)	N243H	probably benign	Het
Fhl4	T	C	10: 84,934,293 (GRCm39)	K163E	possibly damaging	Het
Flot2	T	C	11: 77,944,193 (GRCm39)	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,821,196 (GRCm39)	T5643K	possibly damaging	Het
Golga4	T	A	9: 118,382,521 (GRCm39)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,446,038 (GRCm39)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,393,201 (GRCm39)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,942,140 (GRCm39)	S744P	probably damaging	Het
Krtap20-1	T	A	16: 88,881,048 (GRCm39)	Y26*	probably null	Het
Lama2	T	C	10: 27,080,901 (GRCm39)	D974G	probably damaging	Het
Ldc1	A	T	4: 130,112,954 (GRCm39)	N147K	possibly damaging	Het
Lipo5	A	T	19: 33,443,339 (GRCm39)	L159Q	probably null	Het
LTO1	T	A	7: 144,470,181 (GRCm39)	Y37N	probably damaging	Het
Mau2	C	T	8: 70,483,302 (GRCm39)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,355,136 (GRCm39)	L236P	probably benign	Het
Mta1	A	G	12: 113,096,870 (GRCm39)	T564A	probably benign	Het
Mylk	C	T	16: 34,696,012 (GRCm39)	S249L	probably damaging	Het
Ncor1	G	T	11: 62,235,489 (GRCm39)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,606,228 (GRCm39)	K15N	probably damaging	Het
Nsun5	A	G	5: 135,400,355 (GRCm39)	Y132C	probably benign	Het
Obsl1	T	A	1: 75,464,607 (GRCm39)	T1605S	probably benign	Het
Or10a3n	A	G	7: 108,493,309 (GRCm39)	Y107H	probably damaging	Het
Or51f1	A	G	7: 102,505,809 (GRCm39)	Y227H	probably damaging	Het
Or51t4	A	T	7: 102,598,656 (GRCm39)	Y328F	probably benign	Het
Or5b109	T	C	19: 13,212,259 (GRCm39)	I215T	probably damaging	Het
P2rx1	A	G	11: 72,900,026 (GRCm39)	N148D	probably benign	Het
Pogz	T	A	3: 94,787,107 (GRCm39)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,520,049 (GRCm39)	T655N	probably damaging	Het
Prss34	T	C	17: 25,517,882 (GRCm39)		probably null	Het
Rhpn2	A	G	7: 35,090,178 (GRCm39)		probably null	Het
Runx1	T	A	16: 92,410,648 (GRCm39)	D256V	probably damaging	Het
Shc1	C	A	3: 89,334,715 (GRCm39)	Q525K	probably benign	Het
Slc6a3	A	T	13: 73,719,642 (GRCm39)	N557I	probably benign	Het
Slmap	C	T	14: 26,254,586 (GRCm39)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Spata31e4	A	T	13: 50,855,007 (GRCm39)	E215V	probably damaging	Het
Srr	C	A	11: 74,801,134 (GRCm39)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,785 (GRCm39)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,601,300 (GRCm39)	*920K	probably null	Het
Tenm2	T	A	11: 35,954,729 (GRCm39)	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,887,841 (GRCm39)	N322S	probably benign	Het
Tlcd2	A	G	11: 75,359,417 (GRCm39)	I70V	probably benign	Het
Tmem214	A	G	5: 31,028,795 (GRCm39)	D128G	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,238 (GRCm39)	V64A	probably benign	Het
Tyro3	T	C	2: 119,632,845 (GRCm39)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm39)	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,178,828 (GRCm39)	D627G	probably benign	Het
Utp6	T	C	11: 79,853,099 (GRCm39)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,614,605 (GRCm39)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 102,030,827 (GRCm39)		probably null	Het
Zw10	C	T	9: 48,982,944 (GRCm39)	T525I	probably benign	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
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
R6909:Slc10a5	UTSW	3	10,400,655 (GRCm39)	missense	possibly damaging	0.90
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'- TCGTCCGTCTGTCTGAACAC -3'
(R):5'- GGCACACATGGTTTGTTTAAAC -3'

Sequencing Primer
(F):5'- ACATTCTTTAGCTCGTCGATGAG -3'
(R):5'- TGTTTAAACTTTCAAAATGTCTGGC -3'

Posted On

2019-06-07