Mutagenetix > Incidental Mutation

Incidental Mutation 'R4787:Tbc1d17'

367174

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d17

Ensembl Gene

ENSMUSG00000038520

Gene Name

TBC1 domain family, member 17

Synonyms

MMRRC Submission

041975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R4787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44490200-44498503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44492488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 392 (P392S)

Ref Sequence

ENSEMBL: ENSMUSP00000121546 (fasta)

Gene Model

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

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: P392S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: P392S

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
AA Change: P392S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: P392S

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

unknown
Transcript: ENSMUST00000208714
AA Change: P4S

Predicted Effect

probably benign
Transcript: ENSMUST00000207532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149921

Predicted Effect

probably benign
Transcript: ENSMUST00000208890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153161

Predicted Effect

probably benign
Transcript: ENSMUST00000207293

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 73,199,008 (GRCm39)	Y138*	probably null	Het
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Amy2b	T	C	3: 113,058,634 (GRCm39)		noncoding transcript	Het
Anxa1	T	A	19: 20,351,118 (GRCm39)	D334V	probably damaging	Het
Atoh8	T	C	6: 72,200,761 (GRCm39)	T310A	possibly damaging	Het
BC002059	G	A	17: 17,193,810 (GRCm39)		noncoding transcript	Het
Ccdc40	A	G	11: 119,144,447 (GRCm39)	D924G	possibly damaging	Het
Ccm2l	A	T	2: 152,921,422 (GRCm39)	M433L	probably benign	Het
Cd209e	T	C	8: 3,901,181 (GRCm39)	S158G	probably null	Het
Cdkn2a	C	T	4: 89,194,955 (GRCm39)	R153H	unknown	Het
Cfap69	A	G	5: 5,696,934 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,280 (GRCm39)	T923A	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,500,248 (GRCm39)	F216S	probably damaging	Het
Dysf	T	A	6: 84,180,310 (GRCm39)	C1995*	probably null	Het
Epb41l5	G	A	1: 119,523,725 (GRCm39)	P467S	probably benign	Het
Extl1	G	A	4: 134,091,978 (GRCm39)	L292F	probably damaging	Het
Fsd1	A	G	17: 56,303,257 (GRCm39)	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,876,803 (GRCm39)		noncoding transcript	Het
Gm8894	A	G	14: 55,658,172 (GRCm39)		noncoding transcript	Het
Gtf3c2	C	T	5: 31,314,921 (GRCm39)	S942N	probably benign	Het
Gvin-ps3	T	C	7: 105,681,041 (GRCm39)		noncoding transcript	Het
H2-Ab1	A	T	17: 34,486,441 (GRCm39)	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,432,134 (GRCm39)	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,228,752 (GRCm39)	V171I	probably benign	Het
Il31ra	C	T	13: 112,664,079 (GRCm39)	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,385,261 (GRCm39)	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,126,813 (GRCm39)	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,668,081 (GRCm39)	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,548,175 (GRCm39)		probably benign	Het
Ldhb-ps	C	A	19: 21,915,601 (GRCm39)		noncoding transcript	Het
Lipo3	T	A	19: 33,757,749 (GRCm39)	Q240L	probably benign	Het
Lpar5	A	G	6: 125,059,461 (GRCm39)		probably null	Het
Lrrk2	A	G	15: 91,597,031 (GRCm39)	D541G	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Meig1	A	G	2: 3,410,251 (GRCm39)	V83A	possibly damaging	Het
Natd1	A	C	11: 60,797,822 (GRCm39)	C34W	probably damaging	Het
Nup205	T	A	6: 35,178,996 (GRCm39)	C689S	probably damaging	Het
Or4c104	T	A	2: 88,586,219 (GRCm39)	K267*	probably null	Het
Or52u1	T	C	7: 104,237,167 (GRCm39)	M52T	probably benign	Het
Or5d35	T	C	2: 87,855,204 (GRCm39)	M46T	possibly damaging	Het
Or6a2	G	A	7: 106,600,293 (GRCm39)	A258V	probably benign	Het
Pdgfrb	A	C	18: 61,212,759 (GRCm39)	S888R	probably damaging	Het
Plppr4	T	C	3: 117,115,979 (GRCm39)	E626G	probably damaging	Het
Ppfia3	C	A	7: 44,990,050 (GRCm39)	A1159S	possibly damaging	Het
Pramel32	T	A	4: 88,547,450 (GRCm39)	K74*	probably null	Het
Prex1	A	G	2: 166,480,260 (GRCm39)	V160A	probably benign	Het
Psmb7	C	T	2: 38,478,283 (GRCm39)	C247Y	probably benign	Het
Rbm33	C	T	5: 28,547,435 (GRCm39)		probably null	Het
Rfc5	T	C	5: 117,520,485 (GRCm39)	T236A	probably benign	Het
Sdk1	G	T	5: 141,568,168 (GRCm39)	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,792,195 (GRCm39)	S451P	possibly damaging	Het
Smap1	G	T	1: 23,888,347 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,927 (GRCm39)	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,711,765 (GRCm39)	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tef	T	A	15: 81,707,758 (GRCm39)	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,334,519 (GRCm39)	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,404,312 (GRCm39)	K121R	probably benign	Het
Trim36	C	A	18: 46,305,599 (GRCm39)	M461I	probably benign	Het
Trpc1	T	A	9: 95,603,468 (GRCm39)	M355L	probably benign	Het
Tspyl4	A	C	10: 34,173,760 (GRCm39)	D84A	probably benign	Het
Twf1	G	T	15: 94,482,315 (GRCm39)	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,392 (GRCm39)	C184R	probably damaging	Het
Unc79	C	T	12: 103,013,257 (GRCm39)	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860 (GRCm39)	C49R	probably benign	Het
Wdr11	T	A	7: 129,210,658 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,152,816 (GRCm39)	M97K	possibly 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
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
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'- ACCAGAAGGCATCTACTTCGTTC -3'
(R):5'- ATAGGTTGTGGGGAAGCTCC -3'

Sequencing Primer
(F):5'- CAGAAGGCATCTACTTCGTTCTGAAC -3'
(R):5'- TTGTGGGGAAGCTCCATCCTC -3'

Posted On

2015-12-29