Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Tbc1d5'

607549

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

045914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50733124-51179352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50756692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 620 (Q620L)

Ref Sequence

ENSEMBL: ENSMUSP00000024717 (fasta)

Gene Model

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

AlphaFold

Q80XQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000024717
AA Change: Q620L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: Q620L

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 damaging
Transcript: ENSMUST00000224528
AA Change: Q642L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,649,494 (GRCm38)	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,357,249 (GRCm38)	D1175G	probably null	Het
Accs	C	A	2: 93,835,732 (GRCm38)	*503L	probably null	Het
Adgra2	A	G	8: 27,114,457 (GRCm38)	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,548,453 (GRCm38)	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,816,978 (GRCm38)	D9A	unknown	Het
Atad2	G	A	15: 58,125,780 (GRCm38)	A228V	probably benign	Het
Atp10a	T	C	7: 58,788,359 (GRCm38)	S430P	probably damaging	Het
Atp1a3	T	C	7: 25,001,148 (GRCm38)	D6G	unknown	Het
Brca1	A	T	11: 101,526,422 (GRCm38)	N295K	possibly damaging	Het
Caly	C	A	7: 140,081,388 (GRCm38)		probably benign	Het
Ces1h	A	G	8: 93,357,425 (GRCm38)	Y386H	unknown	Het
Col14a1	A	G	15: 55,444,616 (GRCm38)	D1044G	unknown	Het
Csf2rb	A	G	15: 78,349,157 (GRCm38)	D888G	probably damaging	Het
Cux1	T	C	5: 136,252,604 (GRCm38)	E568G	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186 (GRCm38)	D241N	probably benign	Het
Dhrs7b	T	A	11: 60,855,742 (GRCm38)	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Dnah14	C	T	1: 181,616,759 (GRCm38)	P545S	probably damaging	Het
Dnajc24	A	T	2: 106,002,035 (GRCm38)	M1K	probably null	Het
Dusp12	C	T	1: 170,874,526 (GRCm38)	W301*	probably null	Het
Dyrk1a	G	T	16: 94,691,716 (GRCm38)	G603*	probably null	Het
Eif4g1	T	A	16: 20,679,702 (GRCm38)	V403E	probably benign	Het
Epn3	T	C	11: 94,496,274 (GRCm38)	E90G	probably damaging	Het
Etl4	A	G	2: 20,805,910 (GRCm38)	S1303G	probably benign	Het
Evpl	A	T	11: 116,228,069 (GRCm38)	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,664,557 (GRCm38)	L22*	probably null	Het
Fcamr	T	A	1: 130,814,638 (GRCm38)	N587K	probably benign	Het
Fgd6	A	G	10: 94,103,331 (GRCm38)	N946S	probably benign	Het
Fndc3b	A	T	3: 27,468,999 (GRCm38)	I477N	possibly damaging	Het
Grifin	C	T	5: 140,564,525 (GRCm38)	A54T	probably benign	Het
Gtf2b	A	G	3: 142,781,344 (GRCm38)	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559 (GRCm38)	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,628,444 (GRCm38)	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,350,399 (GRCm38)	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,939,922 (GRCm38)	D617E	probably damaging	Het
Kifc3	T	A	8: 95,107,537 (GRCm38)		probably null	Het
Kirrel3	C	T	9: 35,020,123 (GRCm38)	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,466,838 (GRCm38)	V132I	probably benign	Het
Kmt2a	A	G	9: 44,818,734 (GRCm38)	S3429P	unknown	Het
Lama1	T	G	17: 67,809,221 (GRCm38)	L2361R		Het
Lrp1b	T	C	2: 40,697,558 (GRCm38)	D3895G		Het
Mcoln3	A	C	3: 146,124,791 (GRCm38)	E92A	possibly damaging	Het
Myo3b	T	C	2: 70,108,688 (GRCm38)	M135T	probably damaging	Het
Mysm1	A	G	4: 94,946,967 (GRCm38)	*820Q	probably null	Het
Ncoa7	A	G	10: 30,691,060 (GRCm38)	S541P	probably benign	Het
Nup54	T	C	5: 92,431,093 (GRCm38)	T33A	unknown	Het
Olfr118	C	A	17: 37,672,517 (GRCm38)	Q165K	possibly damaging	Het
Olfr1290	T	A	2: 111,490,024 (GRCm38)	I45F	probably damaging	Het
Olfr1496	T	C	19: 13,781,446 (GRCm38)	V276A	possibly damaging	Het
Olfr45	T	G	7: 140,691,571 (GRCm38)	I222S	probably damaging	Het
Olfr586	T	A	7: 103,122,692 (GRCm38)	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414 (GRCm38)	C18R	probably benign	Het
Pde4d	A	G	13: 109,935,324 (GRCm38)	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm38)		probably benign	Het
Pidd1	C	A	7: 141,440,142 (GRCm38)	W598L	probably damaging	Het
Pira2	A	T	7: 3,844,544 (GRCm38)	C49S	probably damaging	Het
Pramef6	T	C	4: 143,897,718 (GRCm38)	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,693,738 (GRCm38)	D135E	probably benign	Het
Rab15	T	A	12: 76,803,129 (GRCm38)	Y88F	probably damaging	Het
Rem2	C	A	14: 54,477,799 (GRCm38)	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,144,064 (GRCm38)	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,147,819 (GRCm38)	Q119*	probably null	Het
Suclg2	G	T	6: 95,594,722 (GRCm38)	Q120K	probably benign	Het
Tacc2	T	A	7: 130,625,431 (GRCm38)	M1282K	probably benign	Het
Tdrd3	G	T	14: 87,472,154 (GRCm38)	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,159,698 (GRCm38)	F1184Y	probably benign	Het
Trim28	T	A	7: 13,028,412 (GRCm38)	V321E	possibly damaging	Het
Trim5	C	A	7: 104,266,468 (GRCm38)		probably null	Het
Ugt2b37	A	T	5: 87,242,440 (GRCm38)	Y382*	probably null	Het
Usp40	C	T	1: 87,982,130 (GRCm38)	G534D	probably damaging	Het
Usp53	A	T	3: 122,934,463 (GRCm38)	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,087,963 (GRCm38)	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,715,424 (GRCm38)	I296F	probably benign	Het
Vps13a	T	C	19: 16,655,304 (GRCm38)	S2563G	probably damaging	Het
Wdr59	A	G	8: 111,494,280 (GRCm38)	F207L		Het
Zan	A	G	5: 137,407,033 (GRCm38)	S3777P	unknown	Het
Zfp277	T	C	12: 40,315,881 (GRCm38)	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,909,919 (GRCm38)	R10W	probably damaging	Het
Zfp384	A	T	6: 125,036,325 (GRCm38)	H452L	probably damaging	Het
Zfyve28	A	T	5: 34,217,143 (GRCm38)	L509Q	probably damaging	Het

Other mutations in Tbc1d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Tbc1d5	APN	17	50,813,798 (GRCm38)	missense	possibly damaging	0.52
IGL01370:Tbc1d5	APN	17	50,966,727 (GRCm38)	missense	probably benign	0.18
IGL01625:Tbc1d5	APN	17	50,917,573 (GRCm38)	missense	probably benign	0.27
IGL01935:Tbc1d5	APN	17	50,963,765 (GRCm38)	splice site	probably benign
IGL02229:Tbc1d5	APN	17	50,852,600 (GRCm38)	missense	probably damaging	1.00
IGL02811:Tbc1d5	APN	17	50,800,121 (GRCm38)	missense	probably damaging	0.99
IGL03192:Tbc1d5	APN	17	50,984,681 (GRCm38)	splice site	probably benign
FR4976:Tbc1d5	UTSW	17	50,799,943 (GRCm38)	missense	probably benign	0.01
FR4976:Tbc1d5	UTSW	17	50,799,931 (GRCm38)	missense	probably benign
IGL02796:Tbc1d5	UTSW	17	50,966,624 (GRCm38)	missense	probably damaging	1.00
R0153:Tbc1d5	UTSW	17	50,984,687 (GRCm38)	splice site	probably benign
R0326:Tbc1d5	UTSW	17	50,966,736 (GRCm38)	missense	probably damaging	1.00
R0417:Tbc1d5	UTSW	17	50,756,705 (GRCm38)	missense	probably benign	0.18
R0481:Tbc1d5	UTSW	17	50,919,051 (GRCm38)	missense	probably damaging	0.98
R1143:Tbc1d5	UTSW	17	50,742,059 (GRCm38)	nonsense	probably null
R1533:Tbc1d5	UTSW	17	50,920,575 (GRCm38)	missense	possibly damaging	0.89
R1543:Tbc1d5	UTSW	17	50,935,532 (GRCm38)	missense	probably benign	0.32
R2888:Tbc1d5	UTSW	17	50,935,549 (GRCm38)	missense	probably damaging	1.00
R3153:Tbc1d5	UTSW	17	50,968,236 (GRCm38)	missense	probably damaging	1.00
R3430:Tbc1d5	UTSW	17	50,800,128 (GRCm38)	missense	probably damaging	1.00
R3898:Tbc1d5	UTSW	17	50,963,744 (GRCm38)	missense	probably damaging	0.98
R4116:Tbc1d5	UTSW	17	50,920,587 (GRCm38)	missense	probably damaging	1.00
R4352:Tbc1d5	UTSW	17	50,782,401 (GRCm38)	missense	probably damaging	0.98
R4456:Tbc1d5	UTSW	17	50,782,341 (GRCm38)	missense	probably damaging	1.00
R4648:Tbc1d5	UTSW	17	50,736,223 (GRCm38)	missense	probably benign
R4711:Tbc1d5	UTSW	17	50,935,509 (GRCm38)	missense	probably damaging	0.98
R4754:Tbc1d5	UTSW	17	50,800,165 (GRCm38)	missense	probably benign	0.03
R5303:Tbc1d5	UTSW	17	50,736,200 (GRCm38)	missense	probably benign	0.00
R5360:Tbc1d5	UTSW	17	50,984,632 (GRCm38)	missense	probably benign	0.26
R5443:Tbc1d5	UTSW	17	50,735,967 (GRCm38)	missense	probably damaging	0.98
R5444:Tbc1d5	UTSW	17	50,735,967 (GRCm38)	missense	probably damaging	0.98
R5611:Tbc1d5	UTSW	17	50,735,967 (GRCm38)	missense	probably damaging	0.98
R5658:Tbc1d5	UTSW	17	50,813,841 (GRCm38)	missense	probably benign	0.18
R5701:Tbc1d5	UTSW	17	50,799,955 (GRCm38)	small deletion	probably benign
R5921:Tbc1d5	UTSW	17	50,963,693 (GRCm38)	missense	probably damaging	1.00
R6280:Tbc1d5	UTSW	17	50,782,310 (GRCm38)	missense	probably benign	0.01
R6628:Tbc1d5	UTSW	17	50,736,208 (GRCm38)	missense	probably benign
R6705:Tbc1d5	UTSW	17	51,025,175 (GRCm38)	start gained	probably benign
R6990:Tbc1d5	UTSW	17	50,968,232 (GRCm38)	missense	probably benign	0.19
R7184:Tbc1d5	UTSW	17	50,800,082 (GRCm38)	missense	probably benign	0.00
R7443:Tbc1d5	UTSW	17	50,966,735 (GRCm38)	missense	probably damaging	1.00
R7484:Tbc1d5	UTSW	17	50,917,545 (GRCm38)	missense	possibly damaging	0.68
R7696:Tbc1d5	UTSW	17	50,874,577 (GRCm38)	missense	probably damaging	1.00
R7787:Tbc1d5	UTSW	17	50,874,683 (GRCm38)	nonsense	probably null
R7827:Tbc1d5	UTSW	17	50,782,263 (GRCm38)	missense	probably damaging	0.99
R7841:Tbc1d5	UTSW	17	50,799,922 (GRCm38)	small deletion	probably benign
R7931:Tbc1d5	UTSW	17	50,799,864 (GRCm38)	splice site	probably benign
R8108:Tbc1d5	UTSW	17	50,742,086 (GRCm38)	missense	probably benign	0.01
R8434:Tbc1d5	UTSW	17	50,782,427 (GRCm38)	splice site	probably benign
R8683:Tbc1d5	UTSW	17	50,984,603 (GRCm38)	critical splice donor site	probably null
R8792:Tbc1d5	UTSW	17	50,799,934 (GRCm38)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50,799,941 (GRCm38)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50,799,935 (GRCm38)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50,799,934 (GRCm38)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50,799,950 (GRCm38)	small insertion	probably benign
R8848:Tbc1d5	UTSW	17	50,919,054 (GRCm38)	missense	probably damaging	1.00
R9027:Tbc1d5	UTSW	17	50,756,664 (GRCm38)	missense	probably damaging	0.97
R9176:Tbc1d5	UTSW	17	50,782,335 (GRCm38)	missense	probably benign
R9751:Tbc1d5	UTSW	17	50,874,652 (GRCm38)	missense	possibly damaging	0.65
Z1088:Tbc1d5	UTSW	17	50,963,696 (GRCm38)	missense	probably damaging	1.00
Z1177:Tbc1d5	UTSW	17	50,966,553 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTTCCTCCACCACAGGG -3'
(R):5'- AGCCCACGTACACCTTGAG -3'

Sequencing Primer
(F):5'- ACAGGGGTCTCTGTGAGAAGTG -3'
(R):5'- TCAAAGCCAGTGTGGTCTAC -3'

Posted On

2019-12-20