Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Tbc1d14'

550069

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d14

Ensembl Gene

ENSMUSG00000029192

Gene Name

TBC1 domain family, member 14

Synonyms

2810413P16Rik, D5Ertd110e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36490604-36593276 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36512540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 455 (F455I)

Ref Sequence

ENSEMBL: ENSMUSP00000121816 (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 benign
Transcript: ENSMUST00000031094
AA Change: F455I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: F455I

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 benign
Transcript: ENSMUST00000124036
AA Change: F475I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: F475I

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: ENSMUST00000126077
AA Change: F174I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: F174I

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: ENSMUST00000130417
AA Change: F475I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: F475I

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

possibly damaging
Transcript: ENSMUST00000136189
AA Change: F455I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: F455I

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 benign
Transcript: ENSMUST00000140607
AA Change: F455I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: F455I

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 benign
Transcript: ENSMUST00000146430
AA Change: F455I

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: F455I

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 benign
Transcript: ENSMUST00000150813
AA Change: F174I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: F174I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171385
AA Change: F174I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: F174I

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500009C09Rik	A	T	15: 82,252,573		probably benign	Het
1700010I14Rik	T	C	17: 9,008,095	V494A	probably benign	Het
1700011I03Rik	C	T	18: 57,591,987	T96I	probably benign	Het
1700017B05Rik	A	T	9: 57,258,758	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,666,533	I640L	possibly damaging	Het
Afdn	T	G	17: 13,890,812		probably null	Het
Ammecr1l	A	T	18: 31,761,824		probably benign	Het
Aox2	A	T	1: 58,336,649	Y879F	probably benign	Het
Arhgap45	G	A	10: 80,026,347		probably null	Het
Arpp21	G	T	9: 112,126,446	H542N	probably benign	Het
Cdt1	G	A	8: 122,571,980	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,153,693	H149Y		Het
Clpp	T	G	17: 56,990,421	W32G	probably benign	Het
Dnmt1	G	T	9: 20,908,489	L1572M	probably damaging	Het
Drd3	G	T	16: 43,807,378	R128S	probably damaging	Het
Elmo2	A	T	2: 165,304,929	F243I	possibly damaging	Het
Endou	G	A	15: 97,720,245	P128L	probably benign	Het
Fat3	A	G	9: 15,996,918	M2596T	probably benign	Het
Fbxl16	A	G	17: 25,816,729	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230	S99P	possibly damaging	Het
Fez1	A	T	9: 36,867,703	R225S	probably benign	Het
Gm14326	A	T	2: 177,946,671	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,143,246	M1360L	probably benign	Het
Hspg2	T	C	4: 137,544,366	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,523,858	K101E	probably benign	Het
Il15	A	T	8: 82,337,575	S77R	probably damaging	Het
Ints13	T	C	6: 146,574,718	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,842,946	P357S	probably benign	Het
Kcmf1	G	T	6: 72,848,306	T268K	probably benign	Het
Kmt2d	A	T	15: 98,850,272	I3057N	unknown	Het
Lgi2	A	G	5: 52,538,490	F376L	probably damaging	Het
Lrig3	T	G	10: 125,997,124	L289R	probably damaging	Het
Mafk	A	G	5: 139,800,121	S25G	probably benign	Het
Mpz	T	C	1: 171,159,635		probably null	Het
Nalcn	A	C	14: 123,278,349	I1680R	probably benign	Het
Olfr154	C	T	2: 85,664,174	V87M	possibly damaging	Het
Olfr270	C	T	4: 52,971,470	P283L	probably damaging	Het
Olfr486	A	T	7: 108,172,494	N83K	probably benign	Het
Olfr994	T	A	2: 85,430,558	K90N	probably benign	Het
Otof	A	C	5: 30,371,568	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,022,202	Y198H	probably damaging	Het
P3h2	T	A	16: 25,965,809	N645I	probably damaging	Het
Pbld2	A	G	10: 63,053,912	T158A	probably benign	Het
Pdgfrb	C	T	18: 61,073,243	R608C	probably damaging	Het
Pdia5	T	C	16: 35,407,679	T408A	probably benign	Het
Pik3cg	A	G	12: 32,176,846	V1014A	probably benign	Het
Prpf8	A	G	11: 75,508,548	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,724,172	Y245*	probably null	Het
Rerg	T	C	6: 137,067,035	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,599,468	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,403,873	V78I	probably damaging	Het
Ryr2	A	C	13: 11,649,776	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,337,807	Q324K	probably benign	Het
Serpinb6e	G	A	13: 33,832,715	T345I	probably damaging	Het
Smchd1	T	C	17: 71,361,960	T1687A	probably benign	Het
Speer4f2	A	C	5: 17,376,663	H201P		Het
Spef2	G	A	15: 9,725,171	R167C	probably damaging	Het
Srp68	A	G	11: 116,271,907		probably null	Het
Tet3	A	G	6: 83,455,024	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,397,773	S696T	probably benign	Het
Tmem63b	T	C	17: 45,667,783	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,489,291	I328M	probably damaging	Het
Tpm3	C	T	3: 90,072,722		probably benign	Het
Trim28	T	A	7: 13,024,906	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,777,486	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,286,942	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,418,643	T770A		Het
Zcchc2	C	A	1: 106,030,481	P894Q	probably damaging	Het
Zfhx2	A	G	14: 55,065,772	V1585A	probably benign	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
IGL02064:Tbc1d14	APN	5	36507675	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTAGATGCACTGTCCCTGAC -3'
(R):5'- ATTCTGCACTTGCCATGCAC -3'

Sequencing Primer
(F):5'- GCACTGTCCCTGACTCCCAC -3'
(R):5'- TTGCCATGCACACCTTATGAAGG -3'

Posted On

2019-05-15