Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Tbc1d14'

185571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d14

Ensembl Gene

ENSMUSG00000029192

Gene Name

TBC1 domain family, member 14

Synonyms

2810413P16Rik, D5Ertd110e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

36490604-36593276 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36507675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 237 (L237*)

Ref Sequence

ENSEMBL: ENSMUSP00000131876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000126077] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000146430] [ENSMUST00000150813] [ENSMUST00000171385]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000031094
AA Change: L518*

SMART Domains

Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: L518*

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	316	375	1e-8	BLAST
TBC	399	635	1.49e-54	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000124036
AA Change: L538*

SMART Domains

Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: L538*

Domain	Start	End	E-Value	Type
low complexity region	179	194	N/A	INTRINSIC
Blast:TBC	336	395	1e-8	BLAST
TBC	419	655	1.49e-54	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000126077
AA Change: L237*

SMART Domains

Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: L237*

Domain	Start	End	E-Value	Type
Blast:TBC	35	94	5e-9	BLAST
TBC	118	354	1.49e-54	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000130417
AA Change: L538*

SMART Domains

Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: L538*

Domain	Start	End	E-Value	Type
low complexity region	179	194	N/A	INTRINSIC
Blast:TBC	336	395	1e-8	BLAST
TBC	419	655	1.49e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136189

SMART Domains

Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	247	322	1e-32	BLAST
TBC	399	559	8.9e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000140607
AA Change: L518*

SMART Domains

Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: L518*

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	316	375	1e-8	BLAST
TBC	399	635	1.49e-54	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000146430
AA Change: L518*

SMART Domains

Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: L518*

Domain	Start	End	E-Value	Type
low complexity region	159	174	N/A	INTRINSIC
Blast:TBC	316	375	1e-8	BLAST
TBC	399	635	1.49e-54	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149157

Predicted Effect

probably null
Transcript: ENSMUST00000150813
AA Change: L237*

SMART Domains

Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: L237*

Domain	Start	End	E-Value	Type
Blast:TBC	35	94	3e-9	BLAST
TBC	118	305	1.08e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000171385
AA Change: L237*

SMART Domains

Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: L237*

Domain	Start	End	E-Value	Type
Blast:TBC	35	94	5e-9	BLAST
TBC	118	354	1.49e-54	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173532

SMART Domains

Protein: ENSMUSP00000133477
Gene: ENSMUSG00000029192

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:RabGAP-TBC	59	129	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173757

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for an ENU-induced mutation appear arrested at an egg cylinder-like state and show complete embryonic lethality between implantation and placentation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Slc6a21	T	A	7: 45,286,459	I38N	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Tbc1d14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Tbc1d14	APN	5	36543200	nonsense	probably null
IGL01759:Tbc1d14	APN	5	36571569	missense	probably damaging	1.00
IGL01939:Tbc1d14	APN	5	36508437	unclassified	probably benign
IGL01977:Tbc1d14	APN	5	36505037	missense	probably damaging	1.00
IGL02250:Tbc1d14	APN	5	36571519	missense	probably damaging	1.00
IGL02370:Tbc1d14	APN	5	36495218	missense	possibly damaging	0.68
IGL03088:Tbc1d14	APN	5	36524964	missense	probably damaging	1.00
R0408:Tbc1d14	UTSW	5	36571299	missense	possibly damaging	0.83
R1863:Tbc1d14	UTSW	5	36507693	missense	probably damaging	1.00
R2007:Tbc1d14	UTSW	5	36571374	missense	possibly damaging	0.78
R2064:Tbc1d14	UTSW	5	36522930	nonsense	probably null
R2266:Tbc1d14	UTSW	5	36543217	missense	possibly damaging	0.52
R2267:Tbc1d14	UTSW	5	36543217	missense	possibly damaging	0.52
R2268:Tbc1d14	UTSW	5	36543217	missense	possibly damaging	0.52
R2269:Tbc1d14	UTSW	5	36543217	missense	possibly damaging	0.52
R3955:Tbc1d14	UTSW	5	36543215	nonsense	probably null
R4222:Tbc1d14	UTSW	5	36493108	missense	probably benign
R4618:Tbc1d14	UTSW	5	36530381	intron	probably benign
R4780:Tbc1d14	UTSW	5	36571256	intron	probably benign
R4817:Tbc1d14	UTSW	5	36571831	missense	probably damaging	1.00
R5315:Tbc1d14	UTSW	5	36507588	missense	probably damaging	0.99
R5521:Tbc1d14	UTSW	5	36520552	missense	probably damaging	0.99
R5590:Tbc1d14	UTSW	5	36525045	missense	probably damaging	1.00
R6190:Tbc1d14	UTSW	5	36571884	missense	possibly damaging	0.58
R6502:Tbc1d14	UTSW	5	36520481	missense	possibly damaging	0.62
R6748:Tbc1d14	UTSW	5	36495254	missense	probably damaging	0.96
R7089:Tbc1d14	UTSW	5	36512540	missense	probably benign	0.03
R7667:Tbc1d14	UTSW	5	36495038	missense	probably damaging	1.00
R8020:Tbc1d14	UTSW	5	36571843	missense	probably benign	0.29
R8389:Tbc1d14	UTSW	5	36530448	intron	probably benign
R8868:Tbc1d14	UTSW	5	36571544	missense	probably damaging	1.00
R8917:Tbc1d14	UTSW	5	36519338	missense	probably damaging	0.97
R9280:Tbc1d14	UTSW	5	36522924	intron	probably benign
R9377:Tbc1d14	UTSW	5	36505128	missense	probably benign	0.01

Posted On

2014-05-07