Mutagenetix > Incidental Mutation

Incidental Mutation 'R6838:Tbc1d17'

537953

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d17

Ensembl Gene

ENSMUSG00000038520

Gene Name

TBC1 domain family, member 17

Synonyms

MMRRC Submission

044946-MU

Accession Numbers

Essential gene?

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

Stock #

R6838 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44490200-44498503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44493738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 295 (R295L)

Ref Sequence

ENSEMBL: ENSMUSP00000121546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033015] [ENSMUST00000047085] [ENSMUST00000054343] [ENSMUST00000107885] [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

possibly damaging
Transcript: ENSMUST00000047085
AA Change: R295L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: R295L

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: ENSMUST00000054343

SMART Domains

Protein: ENSMUSP00000049764
Gene: ENSMUSG00000011096

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	101	N/A	INTRINSIC
low complexity region	102	116	N/A	INTRINSIC
low complexity region	161	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107885

SMART Domains

Protein: ENSMUSP00000103517
Gene: ENSMUSG00000011096

Domain	Start	End	E-Value	Type
low complexity region	104	131	N/A	INTRINSIC
low complexity region	137	172	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
Pfam:PRAS	199	323	1.2e-51	PFAM

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: ENSMUST00000142880

Predicted Effect

probably damaging
Transcript: ENSMUST00000145959
AA Change: R295L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: R295L

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: ENSMUST00000208714

Predicted Effect

probably benign
Transcript: ENSMUST00000208890

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Aqp9	T	A	9: 71,019,498 (GRCm39)	M321L	probably benign	Het
Avil	G	A	10: 126,849,431 (GRCm39)	D576N	probably benign	Het
Bbs1	C	T	19: 4,953,880 (GRCm39)	M94I	possibly damaging	Het
Bms1	A	G	6: 118,393,455 (GRCm39)	V139A	probably benign	Het
Bscl2	A	T	19: 8,818,745 (GRCm39)	M57L	probably damaging	Het
C2cd5	A	G	6: 142,975,364 (GRCm39)	I794T	possibly damaging	Het
Cacna1s	C	T	1: 136,012,175 (GRCm39)	T539I	possibly damaging	Het
Cand1	T	C	10: 119,045,935 (GRCm39)	K990R	probably benign	Het
Capn7	A	G	14: 31,076,130 (GRCm39)	I311V	possibly damaging	Het
Cd180	A	G	13: 102,839,239 (GRCm39)	N41D	probably benign	Het
Cdin1	T	C	2: 115,607,471 (GRCm39)	F275L	possibly damaging	Het
Celsr1	G	A	15: 85,823,395 (GRCm39)	T1671I	probably benign	Het
Cep135	A	T	5: 76,780,062 (GRCm39)	Q798L	probably damaging	Het
Cfap65	T	C	1: 74,971,180 (GRCm39)	D46G	probably benign	Het
Cracd	A	T	5: 77,006,056 (GRCm39)	T806S	unknown	Het
Ddx46	G	T	13: 55,787,748 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,230,948 (GRCm39)	L1402P	probably damaging	Het
Dnah8	A	G	17: 30,929,525 (GRCm39)	E1402G	probably damaging	Het
Dock9	A	G	14: 121,784,008 (GRCm39)	Y1989H	possibly damaging	Het
Ereg	A	G	5: 91,236,323 (GRCm39)	D50G	probably benign	Het
Evi5	G	T	5: 107,990,027 (GRCm39)	T64K	possibly damaging	Het
Frem3	A	C	8: 81,338,660 (GRCm39)	T318P	probably damaging	Het
Gpx1	A	G	9: 108,217,139 (GRCm39)	D81G	possibly damaging	Het
Gramd1a	T	C	7: 30,833,929 (GRCm39)	I499V	probably benign	Het
H4c12	A	T	13: 21,934,375 (GRCm39)	F101I	probably damaging	Het
Herc2	T	A	7: 55,758,526 (GRCm39)	D804E	probably damaging	Het
Hk1	T	C	10: 62,107,437 (GRCm39)	E846G	probably damaging	Het
Iars2	G	A	1: 185,061,342 (GRCm39)	A48V	probably damaging	Het
Invs	C	T	4: 48,283,278 (GRCm39)	T10M	possibly damaging	Het
Ism2	A	T	12: 87,326,975 (GRCm39)	D321E	probably benign	Het
Itpr1	T	C	6: 108,448,152 (GRCm39)	S231P	possibly damaging	Het
Kif17	A	T	4: 138,005,710 (GRCm39)		probably null	Het
Lvrn	A	G	18: 47,023,947 (GRCm39)	I765V	possibly damaging	Het
Map4k4	T	A	1: 40,015,882 (GRCm39)	C108S	probably damaging	Het
Mapk13	G	T	17: 28,996,535 (GRCm39)		probably null	Het
Mapkapk2	T	A	1: 130,985,740 (GRCm39)	K95*	probably null	Het
Mau2	A	T	8: 70,491,947 (GRCm39)		probably null	Het
Mex3a	A	G	3: 88,444,084 (GRCm39)	T387A	probably benign	Het
Myo5a	T	C	9: 75,061,165 (GRCm39)		probably null	Het
Ncbp3	A	T	11: 72,964,300 (GRCm39)	M417L	possibly damaging	Het
Nod2	A	C	8: 89,397,086 (GRCm39)	E810A	possibly damaging	Het
Nol3	A	T	8: 106,006,207 (GRCm39)	E152V	probably damaging	Het
Obox6	T	C	7: 15,567,664 (GRCm39)	E261G	possibly damaging	Het
Or2h1	A	T	17: 37,404,058 (GRCm39)	L236*	probably null	Het
Or8b12b	A	C	9: 37,684,348 (GRCm39)	Y131S	possibly damaging	Het
P3h2	T	C	16: 25,924,034 (GRCm39)	S134G	possibly damaging	Het
Plxna2	A	T	1: 194,487,222 (GRCm39)	R1592S	possibly damaging	Het
Ppp1r12a	C	T	10: 108,097,137 (GRCm39)	S250L	possibly damaging	Het
Rab38	A	G	7: 88,099,917 (GRCm39)	D144G	possibly damaging	Het
Septin1	T	C	7: 126,815,894 (GRCm39)	M176V	probably benign	Het
Spata22	C	T	11: 73,236,759 (GRCm39)	T355M	probably benign	Het
Tango6	A	G	8: 107,468,706 (GRCm39)	N734S	probably benign	Het
Thsd7a	G	T	6: 12,504,074 (GRCm39)	P360Q	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tnnt1	T	C	7: 4,510,406 (GRCm39)	N239S	possibly damaging	Het
Tpst1	A	T	5: 130,131,279 (GRCm39)	M250L	probably benign	Het
Urb1	T	A	16: 90,578,994 (GRCm39)	D689V	possibly damaging	Het
Usp28	T	A	9: 48,911,730 (GRCm39)		probably null	Het
Vldlr	G	A	19: 27,225,370 (GRCm39)	D816N	probably damaging	Het
Vmn1r257	T	A	7: 22,391,142 (GRCm39)	M201L	probably benign	Het
Wdr1	A	G	5: 38,687,374 (GRCm39)	V219A	probably damaging	Het
Xndc1	T	C	7: 101,722,476 (GRCm39)	V47A	possibly damaging	Het
Zfp366	C	T	13: 99,365,015 (GRCm39)	P59S	possibly damaging	Het
Zfp366	A	G	13: 99,382,685 (GRCm39)	E616G	possibly damaging	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	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
R7543:Tbc1d17	UTSW	7	44,495,503 (GRCm39)	missense	probably benign	0.00
R8118:Tbc1d17	UTSW	7	44,492,426 (GRCm39)	missense	probably benign	0.10
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'- AGGAACTTCCAAGCCTCTCG -3'
(R):5'- TTCCTAGCCTGGCCTTAGAGTG -3'

Sequencing Primer
(F):5'- TTCCAAGCCTCTCGACGTAGG -3'
(R):5'- GCCTTAGAGTGTGTGACCCTC -3'

Posted On

2018-10-18