Mutagenetix > Incidental Mutation

Incidental Mutation 'R9461:Tbc1d16'

714881

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d16

Ensembl Gene

ENSMUSG00000039976

Gene Name

TBC1 domain family, member 16

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119033871-119119325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 119044781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 553 (F553L)

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: F553L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048516
Gene: ENSMUSG00000039976
AA Change: F553L

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: F552L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abhd18	A	T	3: 40,859,319 (GRCm39)		probably null	Het
Aox1	G	A	1: 58,116,736 (GRCm39)		probably null	Het
Arpp21	C	A	9: 111,965,704 (GRCm39)	R422L	probably damaging	Het
Ccdc190	G	A	1: 169,761,489 (GRCm39)	G197D	probably benign	Het
Cdc42bpa	G	T	1: 179,969,861 (GRCm39)	L1243F	probably damaging	Het
Ces2b	T	A	8: 105,564,011 (GRCm39)	F462I	probably benign	Het
Cfap45	A	G	1: 172,362,894 (GRCm39)	E295G	possibly damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col24a1	G	T	3: 145,186,879 (GRCm39)	E1227*	probably null	Het
Col5a1	A	T	2: 27,922,616 (GRCm39)	D1717V	unknown	Het
Dab2	T	C	15: 6,460,435 (GRCm39)	S448P	possibly damaging	Het
Dnajb1	T	C	8: 84,335,173 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,842,601 (GRCm39)	G1223D	probably benign	Het
Elp2	A	G	18: 24,765,869 (GRCm39)	R670G	probably damaging	Het
Eppk1	T	C	15: 75,994,668 (GRCm39)	I738V	probably benign	Het
Gas2l2	T	A	11: 83,313,031 (GRCm39)	R760S	probably damaging	Het
H1f7	C	T	15: 98,155,138 (GRCm39)	A4T	probably damaging	Het
Kif17	G	A	4: 138,005,253 (GRCm39)	V273I	probably damaging	Het
Klhdc4	T	C	8: 122,526,224 (GRCm39)	D336G	probably damaging	Het
Lmod2	A	G	6: 24,603,568 (GRCm39)	N181S	probably benign	Het
Lrp8	G	A	4: 107,700,515 (GRCm39)	G151D	possibly damaging	Het
Mb21d2	C	T	16: 28,647,261 (GRCm39)	V238M	probably damaging	Het
Mfsd4b3-ps	T	G	10: 39,823,247 (GRCm39)	I338L	probably benign	Het
Nkain2	C	T	10: 32,766,125 (GRCm39)	A112T	unknown	Het
Or14c41	T	A	7: 86,235,247 (GRCm39)	Y255N	possibly damaging	Het
Or52n2b	T	A	7: 104,565,583 (GRCm39)	I307F	probably benign	Het
Or5b12b	T	A	19: 12,861,875 (GRCm39)	V210E	possibly damaging	Het
Or5i1	A	G	2: 87,612,883 (GRCm39)	I2V	probably benign	Het
Pacs2	A	G	12: 113,010,727 (GRCm39)	I126V	probably benign	Het
Phyhipl	T	C	10: 70,395,243 (GRCm39)	Y321C	possibly damaging	Het
Ppm1k	T	C	6: 57,487,720 (GRCm39)	S368G	probably damaging	Het
Ranbp6	T	C	19: 29,787,163 (GRCm39)	D1063G	possibly damaging	Het
Sars2	T	C	7: 28,449,438 (GRCm39)	M322T	probably benign	Het
Serbp1	G	A	6: 67,244,313 (GRCm39)	R78H	probably benign	Het
Sfxn2	T	A	19: 46,574,192 (GRCm39)	N127K	probably damaging	Het
Sgsm1	A	T	5: 113,423,898 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,108,342 (GRCm39)	Y491C	probably damaging	Het
Slc22a22	T	A	15: 57,127,052 (GRCm39)	I6F	probably damaging	Het
Smpd1	C	T	7: 105,204,789 (GRCm39)	L223F	probably damaging	Het
Spem1	T	C	11: 69,711,741 (GRCm39)	K308E	probably benign	Het
Spsb1	A	T	4: 149,990,907 (GRCm39)	C220*	probably null	Het
Syngap1	T	A	17: 27,173,962 (GRCm39)	S190R	possibly damaging	Het
Tars3	T	C	7: 65,339,719 (GRCm39)	S705P	possibly damaging	Het
Thbs2	A	G	17: 14,910,435 (GRCm39)	Y55H	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tut7	G	A	13: 59,963,512 (GRCm39)	T282I	probably damaging	Het
Txnl1	T	C	18: 63,810,050 (GRCm39)	N131S	probably benign	Het
Vat1	T	C	11: 101,353,846 (GRCm39)	T175A	possibly damaging	Het
Veph1	T	A	3: 66,029,066 (GRCm39)	D651V	probably benign	Het
Zfp281	T	A	1: 136,554,500 (GRCm39)	S493T	probably benign	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	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
R8839:Tbc1d16	UTSW	11	119,047,474 (GRCm39)	missense	probably damaging	0.99
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
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'- GTGTGCTATCTCTCTGAGCC -3'
(R):5'- TGAGATAGGGTTCGTGGCAC -3'

Sequencing Primer
(F):5'- TGCACACGCATACACATGTG -3'
(R):5'- TGTCACAACAGGCCTTGG -3'

Posted On

2022-06-15