Mutagenetix > Incidental Mutation

Incidental Mutation 'R0849:Tbcel'

77079

Institutional Source

Beutler Lab

Gene Symbol

Tbcel

Ensembl Gene

ENSMUSG00000037287

Gene Name

tubulin folding cofactor E-like

Synonyms

E130107N23Rik, Lrrc35

MMRRC Submission

039028-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R0849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42323612-42383534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42348453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 305 (I305S)

Ref Sequence

ENSEMBL: ENSMUSP00000116616 (fasta)

Gene Model

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

AlphaFold

Q8C5W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000066148
AA Change: I305S

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

SMART Domains

Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: I305S

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 damaging
Transcript: ENSMUST00000066179
AA Change: I323S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: I323S

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 damaging
Transcript: ENSMUST00000125995
AA Change: I305S

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

SMART Domains

Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: I305S

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 damaging
Transcript: ENSMUST00000128959
AA Change: I305S

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

SMART Domains

Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: I305S

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 damaging
Transcript: ENSMUST00000138506
AA Change: I305S

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

SMART Domains

Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: I305S

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	T	C	12: 52,566,406 (GRCm39)	F1126L	probably benign	Het
Arhgef11	G	T	3: 87,643,203 (GRCm39)	A1472S	probably benign	Het
Armc9	G	A	1: 86,184,992 (GRCm39)	R681K	probably benign	Het
Atxn2	T	A	5: 121,885,484 (GRCm39)		probably null	Het
B3gnt6	C	A	7: 97,843,950 (GRCm39)	L3F	probably benign	Het
Cand2	A	G	6: 115,769,352 (GRCm39)	T721A	probably damaging	Het
Cntn2	A	T	1: 132,450,124 (GRCm39)	M590K	probably benign	Het
Cntn4	A	T	6: 106,644,418 (GRCm39)	D622V	probably damaging	Het
Des	T	G	1: 75,337,272 (GRCm39)	S71A	probably benign	Het
Dnah5	C	A	15: 28,263,745 (GRCm39)	R827S	probably damaging	Het
Dstn	G	A	2: 143,780,455 (GRCm39)	G52S	probably benign	Het
Eln	T	A	5: 134,736,835 (GRCm39)	R704*	probably null	Het
Fezf2	T	A	14: 12,342,607 (GRCm38)	K419N	probably damaging	Het
Gm2381	G	A	7: 42,469,372 (GRCm39)	Q251*	probably null	Het
Grin3a	G	A	4: 49,665,501 (GRCm39)	R1045*	probably null	Het
Herc2	T	A	7: 55,856,326 (GRCm39)	H3921Q	probably damaging	Het
Hs3st2	A	G	7: 121,100,255 (GRCm39)	E367G	possibly damaging	Het
Hydin	G	A	8: 111,325,616 (GRCm39)	R4675H	probably damaging	Het
Inhca	A	C	9: 103,140,256 (GRCm39)	Y488D	possibly damaging	Het
Irf2bp1	T	C	7: 18,738,659 (GRCm39)	S100P	possibly damaging	Het
Itga10	A	G	3: 96,559,846 (GRCm39)	I500M	possibly damaging	Het
Kcnt2	T	C	1: 140,435,500 (GRCm39)	V496A	probably damaging	Het
Mansc1	T	C	6: 134,587,670 (GRCm39)	D169G	probably benign	Het
Mdn1	T	A	4: 32,741,835 (GRCm39)	S3869T	probably damaging	Het
Mrgprb4	G	A	7: 47,848,868 (GRCm39)	T20I	probably benign	Het
Nek4	A	G	14: 30,679,253 (GRCm39)	E198G	probably damaging	Het
Or12e8	G	T	2: 87,188,609 (GRCm39)	V274L	probably benign	Het
Or2y10	G	A	11: 49,455,129 (GRCm39)	C127Y	probably damaging	Het
Or5w11	C	A	2: 87,459,626 (GRCm39)	T273K	possibly damaging	Het
Ppfia4	A	T	1: 134,247,110 (GRCm39)	F537I	probably benign	Het
Rarb	A	G	14: 16,434,293 (GRCm38)	V295A	probably damaging	Het
Ryr1	A	G	7: 28,740,104 (GRCm39)	S3941P	probably damaging	Het
Scnn1b	A	G	7: 121,511,698 (GRCm39)	N370S	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Sv2c	C	T	13: 96,126,319 (GRCm39)	G311D	probably damaging	Het
Tas2r109	T	C	6: 132,957,856 (GRCm39)	I25V	probably benign	Het
Tmem35b	A	G	4: 127,019,990 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Tmtc4	A	G	14: 123,182,966 (GRCm39)	I244T	possibly damaging	Het
Usp9y	C	A	Y: 1,394,002 (GRCm39)	C576F	probably damaging	Het
Vcan	A	T	13: 89,853,072 (GRCm39)	N629K	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,363 (GRCm39)	Y409C	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,674,142 (GRCm39)	Y400C	probably damaging	Het

Other mutations in Tbcel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Tbcel	APN	9	42,354,333 (GRCm39)	missense	probably benign	0.03
IGL01432:Tbcel	APN	9	42,355,817 (GRCm39)	missense	possibly damaging	0.79
IGL02223:Tbcel	APN	9	42,363,014 (GRCm39)	missense	probably benign	0.14
IGL03336:Tbcel	APN	9	42,350,427 (GRCm39)	missense	probably benign	0.17
R0346:Tbcel	UTSW	9	42,348,539 (GRCm39)	splice site	probably benign
R0415:Tbcel	UTSW	9	42,355,796 (GRCm39)	missense	probably benign	0.43
R1203:Tbcel	UTSW	9	42,362,947 (GRCm39)	missense	probably damaging	1.00
R1370:Tbcel	UTSW	9	42,361,358 (GRCm39)	missense	probably damaging	1.00
R1617:Tbcel	UTSW	9	42,372,589 (GRCm39)	intron	probably benign
R1995:Tbcel	UTSW	9	42,362,957 (GRCm39)	missense	probably damaging	1.00
R3196:Tbcel	UTSW	9	42,327,248 (GRCm39)	missense	probably damaging	0.99
R3618:Tbcel	UTSW	9	42,372,591 (GRCm39)	intron	probably benign
R4681:Tbcel	UTSW	9	42,361,268 (GRCm39)	missense	probably damaging	1.00
R5008:Tbcel	UTSW	9	42,327,419 (GRCm39)	missense	probably damaging	1.00
R5497:Tbcel	UTSW	9	42,363,041 (GRCm39)	start codon destroyed	possibly damaging	0.59
R5838:Tbcel	UTSW	9	42,327,168 (GRCm39)	missense	probably damaging	0.98
R5976:Tbcel	UTSW	9	42,350,499 (GRCm39)	missense	possibly damaging	0.95
R6993:Tbcel	UTSW	9	42,327,413 (GRCm39)	nonsense	probably null
R8480:Tbcel	UTSW	9	42,375,169 (GRCm39)	splice site	probably null
S24628:Tbcel	UTSW	9	42,355,796 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TTTCTCAGCAGACGCTGTCACC -3'
(R):5'- AGTCTTCAACAGGAGCAACGCC -3'

Sequencing Primer
(F):5'- ctgtcacccactgagcc -3'
(R):5'- ACGCCCCTCCAGCTATG -3'

Posted On

2013-10-16