Mutagenetix > Incidental Mutation

Incidental Mutation 'S24628:Tbcel'

385660

Institutional Source

Beutler Lab

Gene Symbol

Tbcel

Ensembl Gene

ENSMUSG00000037287

Gene Name

tubulin folding cofactor E-like

Synonyms

E130107N23Rik, Lrrc35

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

S24628 () of strain waterfowl

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

42412316-42507809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42444500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 139 (C139F)

Ref Sequence

ENSEMBL: ENSMUSP00000065125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066148] [ENSMUST00000066179] [ENSMUST00000125995] [ENSMUST00000128959] [ENSMUST00000138506]

AlphaFold

Q8C5W3

Predicted Effect

probably benign
Transcript: ENSMUST00000066148
AA Change: C121F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: C121F

Domain	Start	End	E-Value	Type
internal_repeat_1	73	103	7.53e-6	PROSPERO
low complexity region	105	115	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
internal_repeat_1	173	203	7.53e-6	PROSPERO
Pfam:Ubiquitin_2	344	424	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066179
AA Change: C139F

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: C139F

Domain	Start	End	E-Value	Type
internal_repeat_1	91	121	9.76e-6	PROSPERO
low complexity region	123	133	N/A	INTRINSIC
low complexity region	165	178	N/A	INTRINSIC
internal_repeat_1	191	221	9.76e-6	PROSPERO
Pfam:Ubiquitin_2	362	442	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125995
AA Change: C121F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: C121F

Domain	Start	End	E-Value	Type
internal_repeat_1	73	103	7.53e-6	PROSPERO
low complexity region	105	115	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
internal_repeat_1	173	203	7.53e-6	PROSPERO
Pfam:Ubiquitin_2	344	424	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128959
AA Change: C121F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: C121F

Domain	Start	End	E-Value	Type
internal_repeat_1	73	103	7.53e-6	PROSPERO
low complexity region	105	115	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
internal_repeat_1	173	203	7.53e-6	PROSPERO
Pfam:Ubiquitin_2	344	424	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138506
AA Change: C121F

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: C121F

Domain	Start	End	E-Value	Type
internal_repeat_1	73	103	7.53e-6	PROSPERO
low complexity region	105	115	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
internal_repeat_1	173	203	7.53e-6	PROSPERO
Pfam:Ubiquitin_2	344	424	1.1e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196448

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 98.1%
3x: 97.0%
10x: 94.3%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 55,852,288	V658I	probably benign	Het
Ccdc40	T	C	11: 119,232,118	Y249H	possibly damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Homo
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Gpr183	C	A	14: 121,954,476	C211F	probably damaging	Homo
Lcp1	A	T	14: 75,227,006	I556F	possibly damaging	Het
Letm1	G	A	5: 33,747,444	P513S	probably benign	Het
Letm1	G	A	5: 33,747,446	P512L	probably benign	Het
Msh3	A	G	13: 92,346,786	V283A	possibly damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Npr3	C	A	15: 11,848,563	M439I	probably benign	Het
Olfr1023	A	T	2: 85,887,438	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055	H191L	probably benign	Het
Pax5	G	A	4: 44,691,886	A120V	probably damaging	Het
Plcb1	A	G	2: 135,337,499	Y609C	probably damaging	Het
Plxna1	G	A	6: 89,357,336	H104Y	probably benign	Homo
Rnf213	A	T	11: 119,414,469	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156	S213G	probably damaging	Homo
Spint1	A	G	2: 119,245,615	T231A	probably damaging	Het
Thbs2	A	C	17: 14,679,973	S573A	probably benign	Het
Tmem43	C	A	6: 91,482,318	P257Q	probably benign	Homo
Tmprss13	A	G	9: 45,337,132		probably null	Het
Tnc	C	T	4: 64,018,012	G229D	probably damaging	Homo
Ugt1a10	TTCATCA	TTCA	1: 88,216,158		probably benign	Het
Vmn1r196	T	A	13: 22,293,836	V215D	probably damaging	Homo
Vmn1r22	G	T	6: 57,900,332	T220K	probably benign	Homo
Vmn2r116	G	A	17: 23,387,279	M388I	possibly damaging	Het
Zap70	A	G	1: 36,770,811	M1V	probably null	Homo
Zfp282	A	G	6: 47,897,881	D340G	probably damaging	Homo
Zfp282	T	A	6: 47,905,053	I558N	possibly damaging	Homo

Other mutations in Tbcel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Tbcel	APN	9	42443037	missense	probably benign	0.03
IGL01432:Tbcel	APN	9	42444521	missense	possibly damaging	0.79
IGL02223:Tbcel	APN	9	42451718	missense	probably benign	0.14
IGL03336:Tbcel	APN	9	42439131	missense	probably benign	0.17
R0346:Tbcel	UTSW	9	42437243	splice site	probably benign
R0415:Tbcel	UTSW	9	42444500	missense	probably benign	0.43
R0849:Tbcel	UTSW	9	42437157	missense	probably damaging	1.00
R1203:Tbcel	UTSW	9	42451651	missense	probably damaging	1.00
R1370:Tbcel	UTSW	9	42450062	missense	probably damaging	1.00
R1617:Tbcel	UTSW	9	42461293	intron	probably benign
R1995:Tbcel	UTSW	9	42451661	missense	probably damaging	1.00
R3196:Tbcel	UTSW	9	42415952	missense	probably damaging	0.99
R3618:Tbcel	UTSW	9	42461295	intron	probably benign
R4681:Tbcel	UTSW	9	42449972	missense	probably damaging	1.00
R5008:Tbcel	UTSW	9	42416123	missense	probably damaging	1.00
R5497:Tbcel	UTSW	9	42451745	start codon destroyed	possibly damaging	0.59
R5838:Tbcel	UTSW	9	42415872	missense	probably damaging	0.98
R5976:Tbcel	UTSW	9	42439203	missense	possibly damaging	0.95
R6993:Tbcel	UTSW	9	42416117	nonsense	probably null
R8480:Tbcel	UTSW	9	42463873	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGTTTCTGAGATCAAAGATGAGC -3'
(R):5'- TGCCTTTGCTAAGTGGTACTCC -3'

Sequencing Primer
(F):5'- CAGAGATTTCTATGCAGAGACGTGC -3'
(R):5'- TGGTACTCCCCGGGGTAAAAG -3'

Posted On

2016-05-10