Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Tbcel'

668176

Institutional Source

Beutler Lab

Gene Symbol

Tbcel

Ensembl Gene

ENSMUSG00000037287

Gene Name

tubulin folding cofactor E-like

Synonyms

E130107N23Rik, Lrrc35

MMRRC Submission

067924-MU

Accession Numbers

Essential gene?

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

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42323612-42383534 bp(-) (GRCm39)

Type of Mutation

splice site (8145 bp from exon)

DNA Base Change (assembly)

G to A at 42375169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066148] [ENSMUST00000066179] [ENSMUST00000128959] [ENSMUST00000134374] [ENSMUST00000138506]

AlphaFold

Q8C5W3

Predicted Effect

probably benign
Transcript: ENSMUST00000066148

SMART Domains

Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287

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

SMART Domains

Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287

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 null
Transcript: ENSMUST00000128959

SMART Domains

Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287

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: ENSMUST00000134374

Predicted Effect

probably benign
Transcript: ENSMUST00000138506

SMART Domains

Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287

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

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	G	A	15: 101,108,720 (GRCm39)	V499M	possibly damaging	Het
Adam5	G	A	8: 25,294,475 (GRCm39)	Q375*	probably null	Het
Adgrf1	G	A	17: 43,606,055 (GRCm39)	E60K	probably benign	Het
Alb	T	C	5: 90,610,630 (GRCm39)	V70A	probably damaging	Het
Aph1b	T	A	9: 66,695,709 (GRCm39)		probably benign	Het
Aste1	G	A	9: 105,274,189 (GRCm39)	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,274,995 (GRCm39)	T351S	probably damaging	Het
Bace2	T	A	16: 97,214,670 (GRCm39)	L286Q	probably damaging	Het
Bach1	G	A	16: 87,516,163 (GRCm39)	G235R	probably damaging	Het
Bpnt2	C	T	4: 4,769,376 (GRCm39)	M246I	probably benign	Het
Brwd1	A	T	16: 95,848,630 (GRCm39)	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,842,486 (GRCm39)		probably null	Het
Cdh22	T	A	2: 164,988,646 (GRCm39)	E236D	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Col11a1	A	G	3: 113,975,043 (GRCm39)	D1234G	probably benign	Het
Cplane1	C	A	15: 8,216,942 (GRCm39)	P720Q	possibly damaging	Het
Cpt2	A	G	4: 107,764,957 (GRCm39)	I269T	probably damaging	Het
Dcaf7	T	A	11: 105,945,619 (GRCm39)	S323T	probably benign	Het
Ddias	G	T	7: 92,508,608 (GRCm39)	Q436K	probably benign	Het
Dlec1	G	A	9: 118,972,335 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,073,859 (GRCm39)	I294F	probably benign	Het
Fat2	A	T	11: 55,173,794 (GRCm39)	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,424,280 (GRCm39)	D626V	probably damaging	Het
Gm6563	A	G	19: 23,653,290 (GRCm39)	T27A	probably benign	Het
Hadhb	T	C	5: 30,373,568 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,551,029 (GRCm39)	W406R	probably null	Het
Ighv1-66	C	T	12: 115,557,002 (GRCm39)	G27R	possibly damaging	Het
Krt26	T	C	11: 99,228,426 (GRCm39)	E102G	probably damaging	Het
Krt34	T	A	11: 99,930,971 (GRCm39)		probably null	Het
Krt36	T	C	11: 99,993,635 (GRCm39)	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,518,827 (GRCm39)	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,633,802 (GRCm39)	N758S	probably damaging	Het
Mrtfb	A	T	16: 13,202,056 (GRCm39)		probably null	Het
Muc4	C	T	16: 32,574,421 (GRCm39)	T957I	probably benign	Het
Naip5	T	C	13: 100,358,743 (GRCm39)	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,678,859 (GRCm39)	V829E	probably benign	Het
Nmnat1	G	A	4: 149,557,827 (GRCm39)	L72F	possibly damaging	Het
Or4f14d	A	T	2: 111,960,330 (GRCm39)	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,286,407 (GRCm39)	V1161E	probably damaging	Het
Raver1	A	G	9: 21,001,576 (GRCm39)	Y86H	probably benign	Het
Recql4	G	T	15: 76,588,705 (GRCm39)	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,411,284 (GRCm39)	M814K	probably benign	Het
Sh3d19	T	G	3: 85,992,184 (GRCm39)	W71G	probably benign	Het
Sidt1	T	C	16: 44,065,529 (GRCm39)	Y759C	probably damaging	Het
Spg11	G	T	2: 121,943,560 (GRCm39)	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Ssc5d	A	T	7: 4,939,328 (GRCm39)	D588V	probably damaging	Het
Supt20	C	A	3: 54,614,537 (GRCm39)	T181K	probably damaging	Het
Szt2	A	T	4: 118,244,015 (GRCm39)	S1363R	probably benign	Het
Ube2e3	T	C	2: 78,749,158 (GRCm39)	L169P	probably damaging	Het
Wrn	A	G	8: 33,778,796 (GRCm39)	F595S	probably benign	Het
Zfp473	G	T	7: 44,382,323 (GRCm39)	P670Q	probably damaging	Het
Zw10	C	T	9: 48,986,299 (GRCm39)	A660V	probably benign	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
R0849:Tbcel	UTSW	9	42,348,453 (GRCm39)	missense	probably damaging	1.00
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
S24628:Tbcel	UTSW	9	42,355,796 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TGAATGCCAACCTCAGAGC -3'
(R):5'- CGTCAGGGCTTTAAACTTTTGC -3'

Sequencing Primer
(F):5'- TGCCAACCTCAGAGCACAGG -3'
(R):5'- AGGGCCATCTCCTGTTAAATAC -3'

Posted On

2021-03-19