Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Tbc1d5'

661918

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

068538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51040152-51486380 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 51291631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024717 (fasta)

Gene Model

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

AlphaFold

Q80XQ2

Predicted Effect

probably null
Transcript: ENSMUST00000024717

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	probably benign	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
R6628:Tbc1d5	UTSW	17	51,043,236 (GRCm39)	missense	probably benign
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
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'- TTGCAGACTGTCGTGTACCAC -3'
(R):5'- GCTCTGAGTACAAAAGATAATTGGG -3'

Sequencing Primer
(F):5'- GACTGTCGTGTACCACAAAGTC -3'
(R):5'- TAATTGGGAAGATAGAAAAGGGCAG -3'

Posted On

2021-03-08