Mutagenetix > Incidental Mutation

Incidental Mutation 'R8839:Tbc1d16'

674331

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

068667-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119033871-119119325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119047474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 417 (R417C)

Ref Sequence

ENSEMBL: ENSMUSP00000048516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036113] [ENSMUST00000207655]

AlphaFold

A2ABG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000036113
AA Change: R417C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: R417C

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
Blast:TBC	63	362	5e-75	BLAST
Blast:TBC	373	418	2e-13	BLAST
TBC	421	659	4.39e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000207655
AA Change: R416C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,889,194 (GRCm39)	Y475H	probably damaging	Het
Ankfy1	T	C	11: 72,621,392 (GRCm39)	I226T	probably benign	Het
Anln	G	A	9: 22,267,468 (GRCm39)	S825L	probably benign	Het
Aoc1l2	T	C	6: 48,907,974 (GRCm39)	Y325H	probably damaging	Het
Arb2a	A	T	13: 78,147,781 (GRCm39)	H283L	probably benign	Het
B3galt4	A	G	17: 34,169,867 (GRCm39)	S124P	possibly damaging	Het
Cabin1	T	C	10: 75,492,650 (GRCm39)	I1882V	probably benign	Het
Caprin2	A	T	6: 148,774,525 (GRCm39)	S262R	probably benign	Het
Csmd2	A	C	4: 128,336,681 (GRCm39)	I1420L		Het
Cyp2b9	T	G	7: 25,900,185 (GRCm39)	V331G	probably damaging	Het
Cyp3a59	A	T	5: 146,045,896 (GRCm39)	M433L	probably benign	Het
Edrf1	A	G	7: 133,255,644 (GRCm39)	D597G	probably benign	Het
Emc3	G	A	6: 113,496,931 (GRCm39)	R147C	possibly damaging	Het
Fkbp7	T	C	2: 76,497,581 (GRCm39)		probably benign	Het
Flii	T	C	11: 60,609,433 (GRCm39)	T665A	possibly damaging	Het
Fxr1	A	G	3: 34,100,831 (GRCm39)		probably benign	Het
Gpr37	T	G	6: 25,669,369 (GRCm39)	I492L	probably benign	Het
Hmg20b	A	C	10: 81,184,749 (GRCm39)	W108G	probably damaging	Het
Ighv9-3	G	A	12: 114,104,385 (GRCm39)	T93I	possibly damaging	Het
Inpp5a	T	C	7: 138,969,349 (GRCm39)	V15A	probably benign	Het
Inpp5d	T	A	1: 87,619,433 (GRCm39)	Y376N	probably damaging	Het
Ints6	A	G	14: 62,931,122 (GRCm39)	F854L	probably benign	Het
Ipo7	A	T	7: 109,641,223 (GRCm39)	K314N	probably damaging	Het
Ltn1	C	A	16: 87,215,390 (GRCm39)	C415F	probably damaging	Het
Mfsd9	T	C	1: 40,813,554 (GRCm39)	T254A	probably benign	Het
Musk	A	G	4: 58,286,151 (GRCm39)	T14A	probably benign	Het
Ncapd3	T	C	9: 27,005,730 (GRCm39)	V1438A		Het
Nnt	A	T	13: 119,494,173 (GRCm39)	V636D	unknown	Het
Or10ak14	A	G	4: 118,611,411 (GRCm39)	L110P	probably damaging	Het
Or11h23	A	T	14: 50,947,957 (GRCm39)	T57S	possibly damaging	Het
Or52ae9	A	G	7: 103,390,021 (GRCm39)	I142T	probably benign	Het
Ost4	T	C	5: 31,064,935 (GRCm39)		probably benign	Het
Pdzph1	T	C	17: 59,257,237 (GRCm39)	T934A	probably benign	Het
Plekhn1	T	A	4: 156,307,046 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,389,616 (GRCm39)		probably benign	Het
Ptch1	A	T	13: 63,689,038 (GRCm39)	L413Q	probably damaging	Het
S100pbp	A	G	4: 129,076,000 (GRCm39)		probably null	Het
Sec23a	T	C	12: 59,037,781 (GRCm39)	K361E	possibly damaging	Het
Sema3b	C	T	9: 107,478,552 (GRCm39)		probably benign	Het
Serpina3g	A	G	12: 104,204,038 (GRCm39)		probably benign	Het
Slc23a2	C	T	2: 131,943,392 (GRCm39)		silent	Het
Smug1	T	C	15: 103,064,247 (GRCm39)	R225G	possibly damaging	Het
Srbd1	T	A	17: 86,295,849 (GRCm39)	I854L	probably benign	Het
Tiam1	A	G	16: 89,681,827 (GRCm39)	Y384H	probably damaging	Het
Trappc9	T	A	15: 72,930,087 (GRCm39)	K90*	probably null	Het
Tubgcp6	A	T	15: 88,987,681 (GRCm39)	H1097Q	possibly damaging	Het
Ugt2b37	A	G	5: 87,402,415 (GRCm39)	L72P	probably damaging	Het
Vmn2r20	A	T	6: 123,373,515 (GRCm39)	H442Q	possibly damaging	Het
Vmn2r65	A	T	7: 84,595,489 (GRCm39)	Y398*	probably null	Het
Zfhx4	A	G	3: 5,466,915 (GRCm39)	T2383A	probably benign	Het

Other mutations in Tbc1d16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Tbc1d16	APN	11	119,046,901 (GRCm39)	missense	possibly damaging	0.69
IGL01973:Tbc1d16	APN	11	119,047,533 (GRCm39)	missense	probably benign	0.19
IGL02456:Tbc1d16	APN	11	119,101,372 (GRCm39)	missense	probably damaging	1.00
H8441:Tbc1d16	UTSW	11	119,039,840 (GRCm39)	nonsense	probably null
R0118:Tbc1d16	UTSW	11	119,048,642 (GRCm39)	missense	probably damaging	1.00
R0255:Tbc1d16	UTSW	11	119,038,401 (GRCm39)	missense	possibly damaging	0.94
R0330:Tbc1d16	UTSW	11	119,049,555 (GRCm39)	critical splice donor site	probably null
R0620:Tbc1d16	UTSW	11	119,099,864 (GRCm39)	missense	probably benign	0.04
R1502:Tbc1d16	UTSW	11	119,044,830 (GRCm39)	missense	probably damaging	1.00
R1806:Tbc1d16	UTSW	11	119,046,927 (GRCm39)	missense	probably damaging	1.00
R2163:Tbc1d16	UTSW	11	119,045,904 (GRCm39)	splice site	probably benign
R2897:Tbc1d16	UTSW	11	119,048,654 (GRCm39)	missense	probably damaging	0.97
R2898:Tbc1d16	UTSW	11	119,048,654 (GRCm39)	missense	probably damaging	0.97
R4454:Tbc1d16	UTSW	11	119,048,699 (GRCm39)	missense	possibly damaging	0.86
R5193:Tbc1d16	UTSW	11	119,049,646 (GRCm39)	missense	probably benign	0.00
R5465:Tbc1d16	UTSW	11	119,046,885 (GRCm39)	missense	probably benign
R5478:Tbc1d16	UTSW	11	119,045,917 (GRCm39)	missense	probably benign	0.07
R5642:Tbc1d16	UTSW	11	119,049,617 (GRCm39)	missense	probably damaging	0.98
R5721:Tbc1d16	UTSW	11	119,049,556 (GRCm39)	critical splice donor site	probably null
R6195:Tbc1d16	UTSW	11	119,101,391 (GRCm39)	nonsense	probably null
R6233:Tbc1d16	UTSW	11	119,101,391 (GRCm39)	nonsense	probably null
R6596:Tbc1d16	UTSW	11	119,048,601 (GRCm39)	missense	probably damaging	1.00
R6932:Tbc1d16	UTSW	11	119,099,742 (GRCm39)	missense	probably damaging	1.00
R7023:Tbc1d16	UTSW	11	119,049,617 (GRCm39)	missense	probably damaging	0.98
R7262:Tbc1d16	UTSW	11	119,045,921 (GRCm39)	missense	probably benign	0.00
R8006:Tbc1d16	UTSW	11	119,046,898 (GRCm39)	missense	probably damaging	0.96
R8506:Tbc1d16	UTSW	11	119,039,784 (GRCm39)	missense	probably damaging	0.98
R8532:Tbc1d16	UTSW	11	119,045,993 (GRCm39)	missense	probably benign	0.11
R8753:Tbc1d16	UTSW	11	119,101,492 (GRCm39)	missense	probably damaging	1.00
R9049:Tbc1d16	UTSW	11	119,100,090 (GRCm39)	missense	probably damaging	1.00
R9104:Tbc1d16	UTSW	11	119,038,626 (GRCm39)	missense	probably damaging	1.00
R9378:Tbc1d16	UTSW	11	119,099,666 (GRCm39)	missense	probably damaging	1.00
R9461:Tbc1d16	UTSW	11	119,044,781 (GRCm39)	missense	probably damaging	1.00
R9498:Tbc1d16	UTSW	11	119,048,681 (GRCm39)	missense	probably damaging	0.98
R9544:Tbc1d16	UTSW	11	119,101,335 (GRCm39)	missense	probably damaging	1.00
R9588:Tbc1d16	UTSW	11	119,101,335 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCCAAACTCTGCAATTGTC -3'
(R):5'- TGGCTTTGACATTCTGGGAAC -3'

Sequencing Primer
(F):5'- CTTTTCAATGAAGCTGCCTGG -3'
(R):5'- AACAGCGTCTCAGGCTTC -3'

Posted On

2021-07-15