Mutagenetix > Incidental Mutations

Incidental Mutation 'R1953:Tbc1d17'

217470

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d17

Ensembl Gene

ENSMUSG00000038520

Gene Name

TBC1 domain family, member 17

Synonyms

MMRRC Submission

039967-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44834623-44849079 bp(-) (GRCm38)

Type of Mutation

splice site (4488 bp from exon)

DNA Base Change (assembly)

T to A at 44841398 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033015] [ENSMUST00000047085] [ENSMUST00000118125] [ENSMUST00000145959] [ENSMUST00000207293]

Predicted Effect

probably benign
Transcript: ENSMUST00000033015

SMART Domains

Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:AlaDh_PNT_C	42	93	1.3e-9	PFAM
Pfam:Thi4	53	100	1.8e-8	PFAM
Pfam:FAD_binding_3	59	94	1.4e-7	PFAM
Pfam:HI0933_like	59	161	1.3e-8	PFAM
Pfam:FAD_binding_2	60	100	1.5e-8	PFAM
Pfam:Pyr_redox	60	100	1.9e-8	PFAM
Pfam:Pyr_redox_2	60	125	7.3e-8	PFAM
Pfam:DAO	60	140	2.8e-9	PFAM
Pfam:NAD_binding_8	63	130	3.6e-17	PFAM
Pfam:Amino_oxidase	68	503	9.9e-86	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000047085
AA Change: E590V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: E590V

Domain	Start	End	E-Value	Type
Pfam:DUF3548	3	217	8.2e-93	PFAM
low complexity region	249	259	N/A	INTRINSIC
TBC	307	545	3.93e-54	SMART
Blast:TBC	554	594	1e-6	BLAST
low complexity region	597	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118125

SMART Domains

Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:AlaDh_PNT_C	47	111	6.6e-9	PFAM
Pfam:Pyr_redox_2	47	111	2e-9	PFAM
Pfam:HI0933_like	67	169	1.8e-8	PFAM
Pfam:FAD_binding_2	68	108	5e-8	PFAM
Pfam:Pyr_redox	68	109	8.5e-8	PFAM
Pfam:DAO	68	159	5.6e-8	PFAM
Pfam:NAD_binding_8	71	138	1.2e-15	PFAM
Pfam:Amino_oxidase	76	511	5.9e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130081

Predicted Effect

probably benign
Transcript: ENSMUST00000133279

SMART Domains

Protein: ENSMUSP00000133613
Gene: ENSMUSG00000074141

Domain	Start	End	E-Value	Type
PDB:1TDO\|A	2	44	1e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139947

Predicted Effect

probably benign
Transcript: ENSMUST00000145959

SMART Domains

Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520

Domain	Start	End	E-Value	Type
Pfam:DUF3548	3	217	5.8e-93	PFAM
low complexity region	249	259	N/A	INTRINSIC
TBC	307	544	3.91e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153161

Predicted Effect

probably null
Transcript: ENSMUST00000207293

Predicted Effect

probably benign
Transcript: ENSMUST00000208714

Predicted Effect

probably null
Transcript: ENSMUST00000208890

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	G	T	16: 38,827,913	T278K	possibly damaging	Het
5730455P16Rik	A	T	11: 80,377,946	D12E	probably damaging	Het
Abca15	C	T	7: 120,361,432	R706C	probably damaging	Het
Actr1a	G	A	19: 46,380,948	S209F	probably benign	Het
Adcy1	A	G	11: 7,078,991	N247S	probably benign	Het
Anapc4	T	C	5: 52,839,688	L101S	probably damaging	Het
Asap3	C	T	4: 136,227,456	R60*	probably null	Het
Ascc3	T	C	10: 50,845,630	S2060P	probably benign	Het
Atp9b	G	A	18: 80,754,307	T851I	possibly damaging	Het
Borcs5	A	G	6: 134,710,267	H196R	unknown	Het
Bpifb9b	A	C	2: 154,311,314	D100A	probably damaging	Het
Cant1	G	C	11: 118,408,783	P247A	probably damaging	Het
Capza3	A	T	6: 140,042,568	I298L	possibly damaging	Het
Cdh10	T	C	15: 18,966,911		probably null	Het
Celsr3	T	C	9: 108,843,182	V2551A	probably benign	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cmtr2	T	C	8: 110,221,919	L287P	probably damaging	Het
Crebbp	G	A	16: 4,179,449	T257I	probably benign	Het
Crispld2	G	A	8: 120,015,296	V128M	probably damaging	Het
Crnkl1	G	A	2: 145,928,200	A241V	probably damaging	Het
Dmd	T	A	X: 83,830,517	I1342N	probably damaging	Het
Dnah10	A	G	5: 124,782,268	T2043A	probably benign	Het
Dscaml1	C	T	9: 45,670,224	T447I	probably benign	Het
Eif2ak3	A	G	6: 70,892,554	T742A	probably benign	Het
Farp1	A	G	14: 121,255,482	T499A	probably benign	Het
Fcgr1	G	A	3: 96,287,070	T167I	probably damaging	Het
Fgd5	C	A	6: 92,024,630	H935Q	probably benign	Het
Fhl4	A	T	10: 85,098,307	D203E	probably benign	Het
Gapt	T	G	13: 110,353,806	T108P	probably damaging	Het
Gm12800	T	C	4: 101,910,115	I187T	probably benign	Het
Gm13762	G	A	2: 88,973,880	Q4*	probably null	Het
Gpt2	A	G	8: 85,521,384	T419A	probably benign	Het
Gucy2c	A	G	6: 136,704,293	V907A	probably damaging	Het
Hmbs	T	C	9: 44,337,444	D211G	probably damaging	Het
Irx5	A	G	8: 92,359,810	N174D	probably damaging	Het
Itfg1	A	G	8: 85,831,231	V170A	probably benign	Het
Itga2b	T	A	11: 102,458,183	T732S	probably benign	Het
Klhl3	A	G	13: 58,011,208	Y546H	probably damaging	Het
Lama5	G	A	2: 180,190,747	H1670Y	possibly damaging	Het
Mlst8	AT	ATT	17: 24,478,013		probably null	Het
Nbeal1	T	C	1: 60,234,840	V409A	probably damaging	Het
Nlgn1	T	A	3: 25,436,300	D421V	probably damaging	Het
Nlrp10	T	C	7: 108,925,118	D385G	probably benign	Het
Nr2e3	T	A	9: 59,949,796	D30V	probably benign	Het
Nyap1	A	G	5: 137,735,032	S580P	probably benign	Het
Olfr1259	A	G	2: 89,943,923	L64P	probably damaging	Het
Olfr1509	T	A	14: 52,450,887	V158E	probably benign	Het
Pex1	A	G	5: 3,630,038	H952R	probably damaging	Het
Plin4	T	A	17: 56,103,849	I1061F	possibly damaging	Het
Pnkp	C	A	7: 44,862,602	R517S	probably benign	Het
Polr2e	T	A	10: 80,038,554	E39D	probably benign	Het
Prokr1	T	C	6: 87,588,593	Y90C	probably benign	Het
Ptprm	A	T	17: 66,940,580	S587T	probably benign	Het
Rere	G	A	4: 150,616,837	E1225K	probably damaging	Het
Rsl24d1	G	T	9: 73,114,614		probably benign	Het
Selp	A	G	1: 164,126,512	N127S	probably benign	Het
Slc22a18	C	T	7: 143,476,247	T17I	probably damaging	Het
Smad2	A	G	18: 76,262,705	T72A	possibly damaging	Het
Snx29	G	A	16: 11,399,783	W149*	probably null	Het
Stk31	G	T	6: 49,446,478		probably null	Het
Sult1e1	T	G	5: 87,587,671		probably null	Het
Syngap1	G	A	17: 26,944,687	R41H	possibly damaging	Het
Tie1	A	T	4: 118,472,790		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp47	T	A	7: 112,092,876	D848E	probably benign	Het
Vmn1r72	A	G	7: 11,669,804	L239P	probably damaging	Het
Vmn2r124	T	C	17: 18,062,860	I272T	probably benign	Het
Vwa1	C	T	4: 155,773,114	V76M	probably damaging	Het
Xrn1	G	T	9: 96,024,221		probably null	Het
Zfp667	G	T	7: 6,305,088	V252F	probably benign	Het
Zranb3	A	T	1: 127,999,399	V343D	probably damaging	Het

Other mutations in Tbc1d17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Tbc1d17	APN	7	44843085	missense	probably benign	0.00
IGL00791:Tbc1d17	APN	7	44845313	missense	probably benign	0.04
IGL01865:Tbc1d17	APN	7	44842689	missense	possibly damaging	0.90
IGL02468:Tbc1d17	APN	7	44848329	missense	probably benign
IGL02829:Tbc1d17	APN	7	44848872	unclassified	probably benign
PIT4431001:Tbc1d17	UTSW	7	44845074	missense	probably benign
R0035:Tbc1d17	UTSW	7	44841408	missense	probably benign	0.09
R0035:Tbc1d17	UTSW	7	44841408	missense	probably benign	0.09
R0066:Tbc1d17	UTSW	7	44844071	unclassified	probably benign
R0066:Tbc1d17	UTSW	7	44844071	unclassified	probably benign
R0414:Tbc1d17	UTSW	7	44846059	missense	probably benign	0.00
R0574:Tbc1d17	UTSW	7	44843123	unclassified	probably benign
R0626:Tbc1d17	UTSW	7	44843085	missense	probably benign	0.00
R0960:Tbc1d17	UTSW	7	44848428	splice site	probably benign
R1203:Tbc1d17	UTSW	7	44843471	missense	probably damaging	1.00
R1244:Tbc1d17	UTSW	7	44844398	missense	probably damaging	0.99
R1730:Tbc1d17	UTSW	7	44845131	missense	probably damaging	0.99
R1783:Tbc1d17	UTSW	7	44845131	missense	probably damaging	0.99
R1899:Tbc1d17	UTSW	7	44841633	unclassified	probably benign
R2106:Tbc1d17	UTSW	7	44848268	critical splice donor site	probably null
R3889:Tbc1d17	UTSW	7	44845938	missense	probably damaging	1.00
R4240:Tbc1d17	UTSW	7	44846826	missense	probably damaging	1.00
R4547:Tbc1d17	UTSW	7	44841347	missense	probably benign
R4787:Tbc1d17	UTSW	7	44843064	missense	probably benign	0.02
R5422:Tbc1d17	UTSW	7	44848868	start codon destroyed	probably null	0.98
R5569:Tbc1d17	UTSW	7	44848331	missense	probably damaging	1.00
R5933:Tbc1d17	UTSW	7	44845337	missense	probably damaging	0.96
R6502:Tbc1d17	UTSW	7	44841625	missense	probably benign	0.30
R6838:Tbc1d17	UTSW	7	44844314	missense	probably damaging	0.97
R7543:Tbc1d17	UTSW	7	44846079	missense	probably benign	0.00
R8118:Tbc1d17	UTSW	7	44843002	missense	probably benign	0.10
Z1177:Tbc1d17	UTSW	7	44842671	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTCAATCTGCAGGAACCC -3'
(R):5'- CCATGAAGCTGAGTGTGGAG -3'

Sequencing Primer
(F):5'- AATCTGCAGGAACCCGGTCAG -3'
(R):5'- TGCTGACACGGGCAGAG -3'

Posted On

2014-08-01