Mutagenetix > Incidental Mutation

Incidental Mutation 'R1203:Tbcel'

100264

Institutional Source

Beutler Lab

Gene Symbol

Tbcel

Ensembl Gene

ENSMUSG00000037287

Gene Name

tubulin folding cofactor E-like

Synonyms

E130107N23Rik, Lrrc35

MMRRC Submission

039273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1203 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

42412316-42507809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 42451651 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 50 (V50G)

Ref Sequence

ENSEMBL: ENSMUSP00000065125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066148] [ENSMUST00000066179] [ENSMUST00000125995] [ENSMUST00000128959] [ENSMUST00000134374] [ENSMUST00000138506]

AlphaFold

Q8C5W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000066148
AA Change: V32G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: V32G

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: V50G

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

SMART Domains

Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: V50G

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: V32G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: V32G

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: V32G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: V32G

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: ENSMUST00000134374
AA Change: V32G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000138506
AA Change: V32G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: V32G

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

Meta Mutation Damage Score

0.6796

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 89.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,518,594	R78S	probably damaging	Het
Aadacl3	T	C	4: 144,463,570	T54A	probably benign	Het
Adcy8	A	G	15: 64,746,931	I791T	probably damaging	Het
Aldh1b1	A	G	4: 45,803,359	D299G	probably damaging	Het
Aoah	A	G	13: 20,816,594	E66G	probably damaging	Het
Atl2	G	T	17: 79,852,905	H418N	probably damaging	Het
Atp6v1d	A	G	12: 78,861,440	I7T	possibly damaging	Het
Calhm3	C	T	19: 47,155,400	V155M	probably damaging	Het
Carmil1	A	T	13: 24,099,006	I105K	probably damaging	Het
Csrp3	C	A	7: 48,839,530	M1I	probably null	Het
Dnah10	T	A	5: 124,760,014		probably null	Het
Dnah11	T	C	12: 117,933,812	N3561S	possibly damaging	Het
Dzip3	A	T	16: 48,951,817	D496E	probably damaging	Het
Eif2ak1	T	C	5: 143,883,979	V246A	probably benign	Het
Fam171b	T	A	2: 83,812,969	V74E	probably benign	Het
Gm14137	C	T	2: 119,175,124	R55W	probably damaging	Het
Gm4950	T	C	18: 51,865,758	I42V	probably benign	Het
Gpr35	T	C	1: 92,983,148	V194A	probably damaging	Het
Kdm5d	C	T	Y: 941,011	S1132F	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Ncln	A	G	10: 81,496,193	V24A	possibly damaging	Het
Nphp4	A	G	4: 152,488,832	K76E	probably damaging	Het
Nsf	CAATAATAATAATAATA	CAATAATAATAATAATAATA	11: 103,926,126		probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr649	A	T	7: 104,189,853	L118*	probably null	Het
Pabpc1l	G	T	2: 164,037,171	V313F	possibly damaging	Het
Pcbd2	G	A	13: 55,733,068		probably null	Het
Rapgef6	T	A	11: 54,691,699	V1479D	probably benign	Het
Rnf43	T	C	11: 87,727,475		probably benign	Het
Robo3	A	G	9: 37,418,682	W1113R	probably damaging	Het
Sall1	A	T	8: 89,031,934	V514E	probably damaging	Het
Sgpp1	A	G	12: 75,716,282	I375T	probably benign	Het
Strc	T	C	2: 121,372,123	N1187S	possibly damaging	Het
Tbc1d17	G	A	7: 44,843,471	R363W	probably damaging	Het
Tbcd	A	G	11: 121,475,625	Q242R	probably benign	Het
Tead3	C	T	17: 28,341,562	A23T	probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tmem136	A	G	9: 43,111,480	V193A	probably benign	Het
Tmem241	G	T	18: 12,083,978		probably benign	Het
Tmtc3	G	T	10: 100,476,744	T79K	probably damaging	Het
Utrn	A	G	10: 12,486,537	V241A	probably damaging	Het
Vps8	A	T	16: 21,511,557	I729F	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

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
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
S24628:Tbcel	UTSW	9	42444500	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- ATGCCTCCAGCCAATCTGGAAGAC -3'
(R):5'- GTTACACACTTCTCCAGTACCCAGC -3'

Sequencing Primer
(F):5'- TGGAAGACTCAGTTCTCCGAG -3'
(R):5'- CCTTCCTTGTGAATAAGAATTCGTTC -3'

Posted On

2014-01-15