Mutagenetix > Incidental Mutation

Incidental Mutation 'R6628:Tbc1d5'

524944

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

044750-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6628 (G1)

Quality Score

142.008

Status

Not validated

Chromosome

Chromosomal Location

51040152-51486380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51043236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 751 (T751A)

Ref Sequence

ENSEMBL: ENSMUSP00000153172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024717] [ENSMUST00000224528]

AlphaFold

Q80XQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000024717
AA Change: T729A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: T729A

Domain	Start	End	E-Value	Type
TBC	78	384	5.56e-86	SMART
low complexity region	475	492	N/A	INTRINSIC
SCOP:d1lsha3	511	546	1e-3	SMART
low complexity region	556	568	N/A	INTRINSIC
low complexity region	783	802	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224528
AA Change: T751A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224977

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,592,713 (GRCm39)	M565R	probably benign	Het
Cd4	A	G	6: 124,856,431 (GRCm39)	L20P	unknown	Het
Chrm2	G	T	6: 36,500,292 (GRCm39)	V50F	probably damaging	Het
Clasp2	A	G	9: 113,725,788 (GRCm39)	T828A	probably damaging	Het
Clec4a4	A	G	6: 122,989,763 (GRCm39)	K135E	probably benign	Het
Clmn	T	C	12: 104,740,045 (GRCm39)	R961G	probably damaging	Het
Cyp2s1	T	C	7: 25,514,466 (GRCm39)	K64E	probably benign	Het
Dagla	T	C	19: 10,240,591 (GRCm39)	D213G	probably damaging	Het
Dsp	A	T	13: 38,351,598 (GRCm39)	E139V	possibly damaging	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Gtf3c1	A	T	7: 125,267,246 (GRCm39)	D928E	probably benign	Het
Gulo	T	C	14: 66,241,619 (GRCm39)	K80E	probably benign	Het
H2-T9	T	C	17: 36,439,946 (GRCm39)	S63G	possibly damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm39)	Y190C	probably damaging	Homo
Kif27	A	T	13: 58,502,611 (GRCm39)	H22Q	probably damaging	Het
Kmt2c	T	C	5: 25,503,926 (GRCm39)	D383G	probably benign	Het
Lmtk2	A	G	5: 144,111,503 (GRCm39)	E741G	probably benign	Het
Mphosph9	G	T	5: 124,436,825 (GRCm39)	N506K	probably damaging	Het
Myo16	T	C	8: 10,620,638 (GRCm39)	S1674P	probably damaging	Het
Or5h26	T	C	16: 58,988,344 (GRCm39)	H54R	probably benign	Het
Or8j3c	T	G	2: 86,253,361 (GRCm39)	N220H	probably benign	Het
Pdcd10	A	G	3: 75,428,378 (GRCm39)	V82A	probably damaging	Het
Ptpn11	G	T	5: 121,272,892 (GRCm39)		probably null	Het
Pxdn	T	C	12: 30,049,917 (GRCm39)	L475P	probably damaging	Het
Senp6	A	G	9: 80,040,236 (GRCm39)	D781G	probably damaging	Het
Tbx18	A	T	9: 87,597,588 (GRCm39)	Y315*	probably null	Het
Wrap53	T	C	11: 69,452,970 (GRCm39)	K446E	probably benign	Het
Wwp1	T	C	4: 19,661,963 (GRCm39)		probably null	Het

Other mutations in Tbc1d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Tbc1d5	APN	17	51,120,826 (GRCm39)	missense	possibly damaging	0.52
IGL01370:Tbc1d5	APN	17	51,273,755 (GRCm39)	missense	probably benign	0.18
IGL01625:Tbc1d5	APN	17	51,224,601 (GRCm39)	missense	probably benign	0.27
IGL01935:Tbc1d5	APN	17	51,270,793 (GRCm39)	splice site	probably benign
IGL02229:Tbc1d5	APN	17	51,159,628 (GRCm39)	missense	probably damaging	1.00
IGL02811:Tbc1d5	APN	17	51,107,149 (GRCm39)	missense	probably damaging	0.99
IGL03192:Tbc1d5	APN	17	51,291,709 (GRCm39)	splice site	probably benign
FR4976:Tbc1d5	UTSW	17	51,106,971 (GRCm39)	missense	probably benign	0.01
FR4976:Tbc1d5	UTSW	17	51,106,959 (GRCm39)	missense	probably benign
IGL02796:Tbc1d5	UTSW	17	51,273,652 (GRCm39)	missense	probably damaging	1.00
R0153:Tbc1d5	UTSW	17	51,291,715 (GRCm39)	splice site	probably benign
R0326:Tbc1d5	UTSW	17	51,273,764 (GRCm39)	missense	probably damaging	1.00
R0417:Tbc1d5	UTSW	17	51,063,733 (GRCm39)	missense	probably benign	0.18
R0481:Tbc1d5	UTSW	17	51,226,079 (GRCm39)	missense	probably damaging	0.98
R1143:Tbc1d5	UTSW	17	51,049,087 (GRCm39)	nonsense	probably null
R1533:Tbc1d5	UTSW	17	51,227,603 (GRCm39)	missense	possibly damaging	0.89
R1543:Tbc1d5	UTSW	17	51,242,560 (GRCm39)	missense	probably benign	0.32
R2888:Tbc1d5	UTSW	17	51,242,577 (GRCm39)	missense	probably damaging	1.00
R3153:Tbc1d5	UTSW	17	51,275,264 (GRCm39)	missense	probably damaging	1.00
R3430:Tbc1d5	UTSW	17	51,107,156 (GRCm39)	missense	probably damaging	1.00
R3898:Tbc1d5	UTSW	17	51,270,772 (GRCm39)	missense	probably damaging	0.98
R4116:Tbc1d5	UTSW	17	51,227,615 (GRCm39)	missense	probably damaging	1.00
R4352:Tbc1d5	UTSW	17	51,089,429 (GRCm39)	missense	probably damaging	0.98
R4456:Tbc1d5	UTSW	17	51,089,369 (GRCm39)	missense	probably damaging	1.00
R4648:Tbc1d5	UTSW	17	51,043,251 (GRCm39)	missense	probably benign
R4711:Tbc1d5	UTSW	17	51,242,537 (GRCm39)	missense	probably damaging	0.98
R4754:Tbc1d5	UTSW	17	51,107,193 (GRCm39)	missense	probably benign	0.03
R5303:Tbc1d5	UTSW	17	51,043,228 (GRCm39)	missense	probably benign	0.00
R5360:Tbc1d5	UTSW	17	51,291,660 (GRCm39)	missense	probably benign	0.26
R5443:Tbc1d5	UTSW	17	51,042,995 (GRCm39)	missense	probably damaging	0.98
R5444:Tbc1d5	UTSW	17	51,042,995 (GRCm39)	missense	probably damaging	0.98
R5611:Tbc1d5	UTSW	17	51,042,995 (GRCm39)	missense	probably damaging	0.98
R5658:Tbc1d5	UTSW	17	51,120,869 (GRCm39)	missense	probably benign	0.18
R5701:Tbc1d5	UTSW	17	51,106,983 (GRCm39)	small deletion	probably benign
R5921:Tbc1d5	UTSW	17	51,270,721 (GRCm39)	missense	probably damaging	1.00
R6280:Tbc1d5	UTSW	17	51,089,338 (GRCm39)	missense	probably benign	0.01
R6705:Tbc1d5	UTSW	17	51,332,203 (GRCm39)	start gained	probably benign
R6990:Tbc1d5	UTSW	17	51,275,260 (GRCm39)	missense	probably benign	0.19
R7184:Tbc1d5	UTSW	17	51,107,110 (GRCm39)	missense	probably benign	0.00
R7443:Tbc1d5	UTSW	17	51,273,763 (GRCm39)	missense	probably damaging	1.00
R7484:Tbc1d5	UTSW	17	51,224,573 (GRCm39)	missense	possibly damaging	0.68
R7696:Tbc1d5	UTSW	17	51,181,605 (GRCm39)	missense	probably damaging	1.00
R7787:Tbc1d5	UTSW	17	51,181,711 (GRCm39)	nonsense	probably null
R7827:Tbc1d5	UTSW	17	51,089,291 (GRCm39)	missense	probably damaging	0.99
R7841:Tbc1d5	UTSW	17	51,106,950 (GRCm39)	small deletion	probably benign
R7861:Tbc1d5	UTSW	17	51,063,720 (GRCm39)	missense	probably damaging	0.99
R7931:Tbc1d5	UTSW	17	51,106,892 (GRCm39)	splice site	probably benign
R8108:Tbc1d5	UTSW	17	51,049,114 (GRCm39)	missense	probably benign	0.01
R8434:Tbc1d5	UTSW	17	51,089,455 (GRCm39)	splice site	probably benign
R8683:Tbc1d5	UTSW	17	51,291,631 (GRCm39)	critical splice donor site	probably null
R8792:Tbc1d5	UTSW	17	51,106,962 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,969 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,963 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,962 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,978 (GRCm39)	small insertion	probably benign
R8848:Tbc1d5	UTSW	17	51,226,082 (GRCm39)	missense	probably damaging	1.00
R9027:Tbc1d5	UTSW	17	51,063,692 (GRCm39)	missense	probably damaging	0.97
R9176:Tbc1d5	UTSW	17	51,089,363 (GRCm39)	missense	probably benign
R9751:Tbc1d5	UTSW	17	51,181,680 (GRCm39)	missense	possibly damaging	0.65
Z1088:Tbc1d5	UTSW	17	51,270,724 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d5	UTSW	17	51,273,581 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCTGCTGTCATCATCGG -3'
(R):5'- AGGACAAACCAGGCATCTTTC -3'

Sequencing Primer
(F):5'- TCATCATCGGGGCTGGAG -3'
(R):5'- AGGCATCTTTCCAAACTGGG -3'

Posted On

2018-06-22