Mutagenetix > Incidental Mutation

Incidental Mutation 'R7543:Tbc1d17'

584014

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d17

Ensembl Gene

ENSMUSG00000038520

Gene Name

TBC1 domain family, member 17

Synonyms

MMRRC Submission

045615-MU

Accession Numbers

Essential gene?

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

Stock #

R7543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44490200-44498503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44495503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 107 (A107V)

Ref Sequence

ENSEMBL: ENSMUSP00000048260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047085] [ENSMUST00000054343] [ENSMUST00000107880] [ENSMUST00000107882] [ENSMUST00000107885] [ENSMUST00000136232] [ENSMUST00000141311] [ENSMUST00000145959] [ENSMUST00000150335] [ENSMUST00000207223] [ENSMUST00000207293] [ENSMUST00000207532] [ENSMUST00000208384]

AlphaFold

Q8BYH7

Predicted Effect

probably benign
Transcript: ENSMUST00000047085
AA Change: A107V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: A107V

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: ENSMUST00000107880

SMART Domains

Protein: ENSMUSP00000103512
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: ENSMUST00000107882

SMART Domains

Protein: ENSMUSP00000103514
Gene: ENSMUSG00000011096

Domain	Start	End	E-Value	Type
low complexity region	59	86	N/A	INTRINSIC
low complexity region	92	127	N/A	INTRINSIC
low complexity region	128	142	N/A	INTRINSIC
low complexity region	187	206	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: ENSMUST00000136232

SMART Domains

Protein: ENSMUSP00000116541
Gene: ENSMUSG00000011096

Domain	Start	End	E-Value	Type
low complexity region	33	60	N/A	INTRINSIC
low complexity region	66	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141311

SMART Domains

Protein: ENSMUSP00000120690
Gene: ENSMUSG00000011096

Domain	Start	End	E-Value	Type
low complexity region	40	67	N/A	INTRINSIC
low complexity region	73	108	N/A	INTRINSIC
low complexity region	109	123	N/A	INTRINSIC
low complexity region	168	187	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142880

Predicted Effect

probably benign
Transcript: ENSMUST00000145959
AA Change: A107V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: A107V

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: ENSMUST00000150335

SMART Domains

Protein: ENSMUSP00000122607
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

Predicted Effect

probably benign
Transcript: ENSMUST00000207223

Predicted Effect

probably benign
Transcript: ENSMUST00000207293
AA Change: A107V

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000207532

Predicted Effect

probably benign
Transcript: ENSMUST00000208384

Predicted Effect

probably benign
Transcript: ENSMUST00000208714

Predicted Effect

probably benign
Transcript: ENSMUST00000208890

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,559,920 (GRCm39)	S54T	probably damaging	Het
Acsl5	G	A	19: 55,266,615 (GRCm39)	V59I		Het
Acss2	A	T	2: 155,391,755 (GRCm39)	I203F	probably damaging	Het
Add2	A	G	6: 86,083,207 (GRCm39)	N435S	probably damaging	Het
Afap1l1	T	C	18: 61,889,972 (GRCm39)	D88G	probably benign	Het
Ajm1	C	A	2: 25,467,410 (GRCm39)	A834S	possibly damaging	Het
Ank3	C	T	10: 69,786,846 (GRCm39)	T970M	possibly damaging	Het
Ap3b2	A	T	7: 81,115,894 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,720 (GRCm39)	K1925E	possibly damaging	Het
Aspscr1	A	G	11: 120,600,249 (GRCm39)	N130D	unknown	Het
B3glct	A	G	5: 149,677,604 (GRCm39)	D411G	probably damaging	Het
Bard1	T	C	1: 71,114,589 (GRCm39)	K131E	probably damaging	Het
Bche	T	C	3: 73,609,066 (GRCm39)	D120G	probably damaging	Het
Brms1l	A	T	12: 55,914,997 (GRCm39)	D302V	probably damaging	Het
Ccdc191	T	A	16: 43,718,572 (GRCm39)	Y56*	probably null	Het
Cela3a	T	A	4: 137,129,883 (GRCm39)	H246L	probably damaging	Het
Col11a2	A	T	17: 34,269,430 (GRCm39)	D440V	unknown	Het
Cplane1	T	C	15: 8,254,876 (GRCm39)	I21T	unknown	Het
Dag1	C	T	9: 108,095,280 (GRCm39)	V71I	probably benign	Het
Ddx23	A	G	15: 98,556,139 (GRCm39)	S60P	unknown	Het
Dync1h1	G	T	12: 110,580,541 (GRCm39)	R134L	probably benign	Het
Dync1i1	T	C	6: 5,784,464 (GRCm39)	S103P	possibly damaging	Het
Erap1	T	A	13: 74,822,753 (GRCm39)	D755E	probably damaging	Het
Exosc8	T	C	3: 54,636,669 (GRCm39)	T221A	probably benign	Het
Fbxo4	T	C	15: 4,007,385 (GRCm39)	D93G	probably damaging	Het
Fzd5	A	G	1: 64,774,999 (GRCm39)	V254A	probably damaging	Het
Gbp3	T	C	3: 142,272,341 (GRCm39)	V281A	probably damaging	Het
Gcc2	T	A	10: 58,107,086 (GRCm39)	I774K	probably benign	Het
Gpr132	A	C	12: 112,815,822 (GRCm39)	C335G	probably benign	Het
Gpr162	G	T	6: 124,838,355 (GRCm39)	Y98*	probably null	Het
H2-T24	T	C	17: 36,325,743 (GRCm39)	T283A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,186 (GRCm39)	Y50C	probably damaging	Het
Il4i1	A	G	7: 44,486,199 (GRCm39)	N53S	possibly damaging	Het
Iqcf3	T	C	9: 106,431,425 (GRCm39)	K60R	possibly damaging	Het
Kif24	A	T	4: 41,413,993 (GRCm39)	Y316*	probably null	Het
Krt18	A	G	15: 101,939,896 (GRCm39)	K365E	probably damaging	Het
Lrguk	T	A	6: 34,025,870 (GRCm39)	L222*	probably null	Het
Mbd1	T	G	18: 74,407,520 (GRCm39)	V210G	probably damaging	Het
Ms4a6b	A	G	19: 11,499,155 (GRCm39)	I90V	not run	Het
Muc16	A	G	9: 18,556,028 (GRCm39)	S3422P	unknown	Het
Mynn	G	A	3: 30,661,188 (GRCm39)	W90*	probably null	Het
Or5p5	T	A	7: 107,414,308 (GRCm39)	N172K	probably damaging	Het
Pdpr	T	A	8: 111,859,520 (GRCm39)	H687Q	probably damaging	Het
Pkd1	A	G	17: 24,814,227 (GRCm39)	E4199G	probably damaging	Het
Plekhg5	A	G	4: 152,192,491 (GRCm39)	E517G	probably damaging	Het
Plxna1	T	C	6: 89,299,837 (GRCm39)	D1644G	probably damaging	Het
Pon1	C	T	6: 5,168,400 (GRCm39)	V336M	possibly damaging	Het
Pop1	T	A	15: 34,530,593 (GRCm39)	L1027Q	probably damaging	Het
Pramel1	T	C	4: 143,124,993 (GRCm39)	S306P	probably damaging	Het
Prpsap2	A	T	11: 61,635,797 (GRCm39)	F168I	possibly damaging	Het
Rabgap1	T	A	2: 37,359,444 (GRCm39)	D2E	probably damaging	Het
Rgmb	A	T	17: 16,027,777 (GRCm39)	L314Q	probably damaging	Het
Ryr2	C	T	13: 11,653,317 (GRCm39)		probably null	Het
Samd4b	A	T	7: 28,113,711 (GRCm39)	S85T	probably benign	Het
Sfrp5	T	C	19: 42,187,302 (GRCm39)	D256G	possibly damaging	Het
Slc25a23	A	G	17: 57,365,106 (GRCm39)		probably null	Het
Sox5	A	G	6: 143,786,905 (GRCm39)	I589T	probably damaging	Het
Sybu	T	A	15: 44,546,848 (GRCm39)		probably null	Het
Syne2	A	G	12: 75,953,616 (GRCm39)	E515G	possibly damaging	Het
Tcstv2c	A	C	13: 120,616,290 (GRCm39)	E43A	probably damaging	Het
Tex50	G	T	1: 160,984,817 (GRCm39)	T141K	possibly damaging	Het
Tmc7	A	G	7: 118,144,979 (GRCm39)	L527P	probably benign	Het
Tns4	T	A	11: 98,963,079 (GRCm39)	D547V	probably benign	Het
Topors	A	G	4: 40,268,312 (GRCm39)	S65P	probably damaging	Het
Trdc	T	A	14: 54,381,692 (GRCm39)	S126T		Het
Ttc27	A	T	17: 75,024,745 (GRCm39)		probably benign	Het
Wdfy3	A	C	5: 102,083,925 (GRCm39)	I787S	probably benign	Het
Zc3h11a	T	C	1: 133,554,768 (GRCm39)	D404G	possibly damaging	Het
Zfp799	A	G	17: 33,039,534 (GRCm39)	I244T	probably benign	Het
Zfp93	A	G	7: 23,974,533 (GRCm39)	T173A	probably benign	Het
Zfp953	T	A	13: 67,495,953 (GRCm39)	L29F	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
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'- CAGAAGCTTACCTGGCCAAC -3'
(R):5'- AGGTTCTGGAACATTCTGGAACG -3'

Sequencing Primer
(F):5'- CAGCAGGTATCGGCTAAGGACTC -3'
(R):5'- TCTGGAACGGACATGTGGC -3'

Posted On

2019-10-17