Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Tbc1d14'

418246

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 #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

36647948-36743611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36682308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 311 (S311P)

Ref Sequence

ENSEMBL: ENSMUSP00000115467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031094] [ENSMUST00000124036] [ENSMUST00000126077] [ENSMUST00000130417] [ENSMUST00000136189] [ENSMUST00000140607] [ENSMUST00000141017] [ENSMUST00000171385] [ENSMUST00000146430] [ENSMUST00000150813]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031094
AA Change: S311P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031094
Gene: ENSMUSG00000029192
AA Change: S311P

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 damaging
Transcript: ENSMUST00000124036
AA Change: S331P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117414
Gene: ENSMUSG00000029192
AA Change: S331P

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 damaging
Transcript: ENSMUST00000126077
AA Change: S30P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114508
Gene: ENSMUSG00000029192
AA Change: S30P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130417
AA Change: S331P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116519
Gene: ENSMUSG00000029192
AA Change: S331P

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 damaging
Transcript: ENSMUST00000136189
AA Change: S311P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115467
Gene: ENSMUSG00000029192
AA Change: S311P

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 damaging
Transcript: ENSMUST00000140607
AA Change: S311P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121516
Gene: ENSMUSG00000029192
AA Change: S311P

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 damaging
Transcript: ENSMUST00000141017
AA Change: S30P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000171385
AA Change: S30P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131876
Gene: ENSMUSG00000029192
AA Change: S30P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146430
AA Change: S311P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121816
Gene: ENSMUSG00000029192
AA Change: S311P

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 damaging
Transcript: ENSMUST00000150813
AA Change: S30P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115926
Gene: ENSMUSG00000029192
AA Change: S30P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149157

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

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,184,210 (GRCm39)	L299R	unknown	Het
Abca9	T	G	11: 110,035,087 (GRCm39)	R693S	probably benign	Het
Adamts20	A	T	15: 94,227,795 (GRCm39)		probably null	Het
Afg1l	T	A	10: 42,302,493 (GRCm39)	D169V	probably damaging	Het
Agbl1	T	A	7: 76,369,890 (GRCm39)	M663K	probably benign	Het
Angpt2	T	A	8: 18,791,039 (GRCm39)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,030,424 (GRCm39)	E160K	probably null	Het
As3mt	G	T	19: 46,696,233 (GRCm39)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,791,171 (GRCm39)		probably benign	Het
Atp6v0d1	T	A	8: 106,257,591 (GRCm39)	I113F	probably damaging	Het
Bank1	A	G	3: 135,799,123 (GRCm39)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,801,881 (GRCm39)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,713,453 (GRCm39)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm39)	N721K	probably damaging	Het
Cercam	A	G	2: 29,771,699 (GRCm39)		probably benign	Het
Clpb	T	A	7: 101,434,656 (GRCm39)	L484*	probably null	Het
Creb3l1	T	A	2: 91,825,739 (GRCm39)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,625,327 (GRCm39)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 61,043,874 (GRCm39)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 106,938,225 (GRCm39)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,507,588 (GRCm39)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,600,411 (GRCm39)	S419A	probably benign	Het
Elapor1	A	G	3: 108,443,674 (GRCm39)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,655,543 (GRCm39)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,110,498 (GRCm39)	H842L	unknown	Het
Fn1	A	T	1: 71,653,197 (GRCm39)		probably null	Het
Fos	A	C	12: 85,522,630 (GRCm39)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,679,669 (GRCm39)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,582,856 (GRCm39)	M338V	probably benign	Het
Gsta4	T	C	9: 78,113,345 (GRCm39)		probably benign	Het
Gstm2	T	A	3: 107,893,362 (GRCm39)	T34S	probably benign	Het
Haspin	C	T	11: 73,027,451 (GRCm39)	R546Q	probably damaging	Het
Itgad	G	A	7: 127,802,204 (GRCm39)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,774,884 (GRCm39)	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,634,455 (GRCm39)	R762S	probably benign	Het
Klf4	C	A	4: 55,530,758 (GRCm39)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm39)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,504,802 (GRCm39)	E3502G	probably damaging	Het
Krt8	A	G	15: 101,909,022 (GRCm39)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,287,649 (GRCm39)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,810,575 (GRCm39)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,009,082 (GRCm39)	V844M	possibly damaging	Het
Map10	G	A	8: 126,397,809 (GRCm39)	E401K	probably benign	Het
Mark4	A	T	7: 19,185,509 (GRCm39)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,910,945 (GRCm39)	M81R	probably damaging	Het
Mup3	A	G	4: 62,005,079 (GRCm39)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,404,769 (GRCm39)		probably null	Het
Myt1l	T	C	12: 29,970,476 (GRCm39)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,574,121 (GRCm39)		probably null	Het
Nos1	C	A	5: 118,005,323 (GRCm39)	N14K	probably damaging	Het
Nova2	G	T	7: 18,684,494 (GRCm39)	V116F	unknown	Het
Obox3	G	A	7: 15,360,927 (GRCm39)		probably benign	Het
Or10h1	A	T	17: 33,418,534 (GRCm39)	T171S	probably benign	Het
Or2t46	T	A	11: 58,472,653 (GRCm39)		probably benign	Het
Or5v1	A	G	17: 37,809,539 (GRCm39)		probably benign	Het
Or8b50	A	T	9: 38,518,597 (GRCm39)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,056,446 (GRCm39)		probably benign	Het
Parvb	T	A	15: 84,193,044 (GRCm39)		probably benign	Het
Popdc2	A	T	16: 38,194,184 (GRCm39)	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,692,725 (GRCm39)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,740,058 (GRCm39)	L484M	probably damaging	Het
Septin14	A	G	5: 129,774,797 (GRCm39)		probably benign	Het
Slf1	A	G	13: 77,232,554 (GRCm39)	C517R	probably damaging	Het
Smyd3	A	G	1: 178,921,898 (GRCm39)		probably null	Het
Snx9	A	G	17: 5,974,885 (GRCm39)	T458A	probably benign	Het
Srgap1	T	C	10: 121,661,598 (GRCm39)	D514G	possibly damaging	Het
Timd6	C	A	11: 46,475,244 (GRCm39)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,234,076 (GRCm39)	K91N	probably damaging	Het
Traf3	T	A	12: 111,228,277 (GRCm39)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,443,825 (GRCm39)	G178C	probably damaging	Het
Vav2	T	C	2: 27,157,262 (GRCm39)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,742,301 (GRCm39)	H225L	probably benign	Het
Wrn	A	T	8: 33,758,851 (GRCm39)		probably benign	Het
Xpo7	T	G	14: 70,918,702 (GRCm39)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,662,417 (GRCm39)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,378,592 (GRCm39)	I197N	probably damaging	Het

Other mutations in Tbc1d14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Tbc1d14	APN	5	36,700,544 (GRCm39)	nonsense	probably null
IGL01759:Tbc1d14	APN	5	36,728,913 (GRCm39)	missense	probably damaging	1.00
IGL01939:Tbc1d14	APN	5	36,665,781 (GRCm39)	unclassified	probably benign
IGL01977:Tbc1d14	APN	5	36,662,381 (GRCm39)	missense	probably damaging	1.00
IGL02064:Tbc1d14	APN	5	36,665,019 (GRCm39)	nonsense	probably null
IGL02250:Tbc1d14	APN	5	36,728,863 (GRCm39)	missense	probably damaging	1.00
IGL02370:Tbc1d14	APN	5	36,652,562 (GRCm39)	missense	possibly damaging	0.68
R0408:Tbc1d14	UTSW	5	36,728,643 (GRCm39)	missense	possibly damaging	0.83
R1863:Tbc1d14	UTSW	5	36,665,037 (GRCm39)	missense	probably damaging	1.00
R2007:Tbc1d14	UTSW	5	36,728,718 (GRCm39)	missense	possibly damaging	0.78
R2064:Tbc1d14	UTSW	5	36,680,274 (GRCm39)	nonsense	probably null
R2266:Tbc1d14	UTSW	5	36,700,561 (GRCm39)	missense	possibly damaging	0.52
R2267:Tbc1d14	UTSW	5	36,700,561 (GRCm39)	missense	possibly damaging	0.52
R2268:Tbc1d14	UTSW	5	36,700,561 (GRCm39)	missense	possibly damaging	0.52
R2269:Tbc1d14	UTSW	5	36,700,561 (GRCm39)	missense	possibly damaging	0.52
R3955:Tbc1d14	UTSW	5	36,700,559 (GRCm39)	nonsense	probably null
R4222:Tbc1d14	UTSW	5	36,650,452 (GRCm39)	missense	probably benign
R4618:Tbc1d14	UTSW	5	36,687,725 (GRCm39)	intron	probably benign
R4780:Tbc1d14	UTSW	5	36,728,600 (GRCm39)	intron	probably benign
R4817:Tbc1d14	UTSW	5	36,729,175 (GRCm39)	missense	probably damaging	1.00
R5315:Tbc1d14	UTSW	5	36,664,932 (GRCm39)	missense	probably damaging	0.99
R5521:Tbc1d14	UTSW	5	36,677,896 (GRCm39)	missense	probably damaging	0.99
R5590:Tbc1d14	UTSW	5	36,682,389 (GRCm39)	missense	probably damaging	1.00
R6190:Tbc1d14	UTSW	5	36,729,228 (GRCm39)	missense	possibly damaging	0.58
R6502:Tbc1d14	UTSW	5	36,677,825 (GRCm39)	missense	possibly damaging	0.62
R6748:Tbc1d14	UTSW	5	36,652,598 (GRCm39)	missense	probably damaging	0.96
R7089:Tbc1d14	UTSW	5	36,669,884 (GRCm39)	missense	probably benign	0.03
R7667:Tbc1d14	UTSW	5	36,652,382 (GRCm39)	missense	probably damaging	1.00
R8020:Tbc1d14	UTSW	5	36,729,187 (GRCm39)	missense	probably benign	0.29
R8389:Tbc1d14	UTSW	5	36,687,792 (GRCm39)	intron	probably benign
R8868:Tbc1d14	UTSW	5	36,728,888 (GRCm39)	missense	probably damaging	1.00
R8917:Tbc1d14	UTSW	5	36,676,682 (GRCm39)	missense	probably damaging	0.97
R9280:Tbc1d14	UTSW	5	36,680,268 (GRCm39)	intron	probably benign
R9377:Tbc1d14	UTSW	5	36,662,472 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02