Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Tbc1d17'

631334

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d17

Ensembl Gene

ENSMUSG00000038520

Gene Name

TBC1 domain family, member 17

Synonyms

MMRRC Submission

067547-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R8118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44490200-44498503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44492426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 412 (F412L)

Ref Sequence

ENSEMBL: ENSMUSP00000048260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033015] [ENSMUST00000047085] [ENSMUST00000118125] [ENSMUST00000145959] [ENSMUST00000207293] [ENSMUST00000207532]

AlphaFold

Q8BYH7

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 benign
Transcript: ENSMUST00000047085
AA Change: F412L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: F412L

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

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

probably benign
Transcript: ENSMUST00000145959
AA Change: F412L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: F412L

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

probably benign
Transcript: ENSMUST00000207293

Predicted Effect

probably benign
Transcript: ENSMUST00000207532

Predicted Effect

probably benign
Transcript: ENSMUST00000208890

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,592,821 (GRCm39)	D792G	probably damaging	Het
Adcy7	A	G	8: 89,042,384 (GRCm39)	H417R	probably damaging	Het
Agr2	A	G	12: 36,046,106 (GRCm39)	D79G	probably benign	Het
Ankle1	T	C	8: 71,860,279 (GRCm39)	S286P	probably benign	Het
Arhgef11	T	C	3: 87,643,164 (GRCm39)	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,789,837 (GRCm39)	M421T	probably damaging	Het
Cdk17	C	A	10: 93,052,252 (GRCm39)	Q111K	possibly damaging	Het
Cimap2	T	A	4: 106,470,595 (GRCm39)	R192S	possibly damaging	Het
Cobl	A	G	11: 12,204,834 (GRCm39)	S623P	probably benign	Het
Dgka	C	T	10: 128,558,318 (GRCm39)		probably null	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,715,858 (GRCm39)	I267V	probably benign	Het
Exoc4	T	C	6: 33,948,853 (GRCm39)	Y899H	probably damaging	Het
Fat3	A	G	9: 15,871,400 (GRCm39)	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,770,341 (GRCm39)	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628 (GRCm38)	V207F	probably benign	Het
Gpr61	A	G	3: 108,057,888 (GRCm39)	S258P	probably damaging	Het
H2-T9	C	T	17: 36,438,582 (GRCm39)	V270M	probably damaging	Het
Hectd4	C	T	5: 121,424,439 (GRCm39)	H700Y	probably benign	Het
Hs3st2	C	T	7: 120,996,651 (GRCm39)	T154I	probably benign	Het
Inf2	A	T	12: 112,567,871 (GRCm39)	H167L	probably damaging	Het
Ints3	C	T	3: 90,307,606 (GRCm39)		probably null	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Itgal	C	A	7: 126,910,417 (GRCm39)	Q509K	probably benign	Het
Klhl20	A	T	1: 160,925,971 (GRCm39)		probably null	Het
Krtap4-13	C	T	11: 99,700,224 (GRCm39)	C145Y	unknown	Het
Large1	A	G	8: 73,858,572 (GRCm39)	S99P	probably benign	Het
Lrba	A	T	3: 86,261,533 (GRCm39)	I1496L	probably benign	Het
Map2	A	T	1: 66,464,550 (GRCm39)	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,372,842 (GRCm39)	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,986,599 (GRCm39)	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,166,102 (GRCm39)	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,265,864 (GRCm39)	I253V	probably benign	Het
Mtfp1	A	G	11: 4,043,910 (GRCm39)	S107P	probably damaging	Het
Nebl	T	A	2: 17,384,631 (GRCm39)	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,095,171 (GRCm39)	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,783,495 (GRCm39)	I20L	probably benign	Het
Nup205	T	A	6: 35,207,451 (GRCm39)	M1501K	probably benign	Het
Or14a258	A	T	7: 86,034,976 (GRCm39)	C297*	probably null	Het
Or1ad8	A	G	11: 50,898,327 (GRCm39)	H176R	probably damaging	Het
Or2t6	A	G	14: 14,175,863 (GRCm38)	I73T	probably damaging	Het
Or4k15b	T	C	14: 50,272,608 (GRCm39)	D84G	probably benign	Het
Or5b123	T	A	19: 13,597,109 (GRCm39)	N151K	probably damaging	Het
Or5g29	T	A	2: 85,421,332 (GRCm39)	Y149*	probably null	Het
Palm3	A	G	8: 84,756,438 (GRCm39)	E650G	probably damaging	Het
Prps1l1	C	A	12: 35,035,340 (GRCm39)	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,189,629 (GRCm39)	V57F	probably damaging	Het
Scaf8	T	A	17: 3,214,458 (GRCm39)	V171D	unknown	Het
Sf3a2	T	C	10: 80,639,474 (GRCm39)	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,902,000 (GRCm39)	L67R	probably damaging	Het
Shank2	A	T	7: 143,963,612 (GRCm39)	I407L	probably benign	Het
Skint6	T	C	4: 112,722,872 (GRCm39)	T902A	possibly damaging	Het
Skint6	A	C	4: 113,013,691 (GRCm39)	S353R	possibly damaging	Het
Srrm2	T	A	17: 24,027,057 (GRCm39)	I87N	unknown	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Svs3b	A	G	2: 164,097,926 (GRCm39)	S132P	probably damaging	Het
Tex29	A	T	8: 11,904,263 (GRCm39)	E116D	unknown	Het
Tmem204	T	C	17: 25,299,312 (GRCm39)	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,129,219 (GRCm39)	R308C	probably benign	Het
Ttn	T	A	2: 76,577,508 (GRCm39)	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,052,304 (GRCm39)	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,571,630 (GRCm39)	N134S	probably damaging	Het
Usp31	T	C	7: 121,276,485 (GRCm39)	T351A	probably damaging	Het
Usp33	T	C	3: 152,065,996 (GRCm39)	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,373,429 (GRCm39)	I471N	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wnk2	A	G	13: 49,244,459 (GRCm39)	V459A	probably damaging	Het

Other mutations in Tbc1d17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Tbc1d17	APN	7	44,492,509 (GRCm39)	missense	probably benign	0.00
IGL00791:Tbc1d17	APN	7	44,494,737 (GRCm39)	missense	probably benign	0.04
IGL01865:Tbc1d17	APN	7	44,492,113 (GRCm39)	missense	possibly damaging	0.90
IGL02468:Tbc1d17	APN	7	44,497,753 (GRCm39)	missense	probably benign
IGL02829:Tbc1d17	APN	7	44,498,296 (GRCm39)	unclassified	probably benign
PIT4431001:Tbc1d17	UTSW	7	44,494,498 (GRCm39)	missense	probably benign
R0035:Tbc1d17	UTSW	7	44,490,832 (GRCm39)	missense	probably benign	0.09
R0035:Tbc1d17	UTSW	7	44,490,832 (GRCm39)	missense	probably benign	0.09
R0066:Tbc1d17	UTSW	7	44,493,495 (GRCm39)	unclassified	probably benign
R0066:Tbc1d17	UTSW	7	44,493,495 (GRCm39)	unclassified	probably benign
R0414:Tbc1d17	UTSW	7	44,495,483 (GRCm39)	missense	probably benign	0.00
R0574:Tbc1d17	UTSW	7	44,492,547 (GRCm39)	unclassified	probably benign
R0626:Tbc1d17	UTSW	7	44,492,509 (GRCm39)	missense	probably benign	0.00
R0960:Tbc1d17	UTSW	7	44,497,852 (GRCm39)	splice site	probably benign
R1203:Tbc1d17	UTSW	7	44,492,895 (GRCm39)	missense	probably damaging	1.00
R1244:Tbc1d17	UTSW	7	44,493,822 (GRCm39)	missense	probably damaging	0.99
R1730:Tbc1d17	UTSW	7	44,494,555 (GRCm39)	missense	probably damaging	0.99
R1783:Tbc1d17	UTSW	7	44,494,555 (GRCm39)	missense	probably damaging	0.99
R1899:Tbc1d17	UTSW	7	44,491,057 (GRCm39)	unclassified	probably benign
R1953:Tbc1d17	UTSW	7	44,490,822 (GRCm39)	splice site	probably null
R2106:Tbc1d17	UTSW	7	44,497,692 (GRCm39)	critical splice donor site	probably null
R3889:Tbc1d17	UTSW	7	44,495,362 (GRCm39)	missense	probably damaging	1.00
R4240:Tbc1d17	UTSW	7	44,496,250 (GRCm39)	missense	probably damaging	1.00
R4547:Tbc1d17	UTSW	7	44,490,771 (GRCm39)	missense	probably benign
R4787:Tbc1d17	UTSW	7	44,492,488 (GRCm39)	missense	probably benign	0.02
R5422:Tbc1d17	UTSW	7	44,498,292 (GRCm39)	start codon destroyed	probably null	0.98
R5569:Tbc1d17	UTSW	7	44,497,755 (GRCm39)	missense	probably damaging	1.00
R5933:Tbc1d17	UTSW	7	44,494,761 (GRCm39)	missense	probably damaging	0.96
R6502:Tbc1d17	UTSW	7	44,491,049 (GRCm39)	missense	probably benign	0.30
R6838:Tbc1d17	UTSW	7	44,493,738 (GRCm39)	missense	probably damaging	0.97
R7543:Tbc1d17	UTSW	7	44,495,503 (GRCm39)	missense	probably benign	0.00
R8899:Tbc1d17	UTSW	7	44,492,328 (GRCm39)	missense	probably damaging	1.00
R9391:Tbc1d17	UTSW	7	44,494,683 (GRCm39)	missense	probably damaging	1.00
R9776:Tbc1d17	UTSW	7	44,490,696 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d17	UTSW	7	44,492,095 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTAGCAGCTGTCCCTAGC -3'
(R):5'- CTGACTAGCTAGGAAGGCCTAC -3'

Sequencing Primer
(F):5'- AGTTCCATGAAGCCGCAG -3'
(R):5'- GGCCTACCTACTGACCTTGTTCATG -3'

Posted On

2020-06-30