Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Tbcel'

225685

Institutional Source

Beutler Lab

Gene Symbol

Tbcel

Ensembl Gene

ENSMUSG00000037287

Gene Name

tubulin folding cofactor E-like

Synonyms

E130107N23Rik, Lrrc35

MMRRC Submission

040005-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42412316-42507809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42451661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 29 (G29W)

Ref Sequence

ENSEMBL: ENSMUSP00000116616 (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: G29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: G29W

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: G47W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: G47W

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: G29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: G29W

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: G29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: G29W

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: G29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000138506
AA Change: G29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: G29W

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc129	T	C	6: 55,968,709	I805T	probably benign	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dcbld2	A	C	16: 58,456,332	E495D	probably benign	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Dpysl4	A	G	7: 139,096,770	I379V	probably benign	Het
Eral1	C	T	11: 78,074,489	G367S	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Fbxo40	T	C	16: 36,969,869	D293G	probably damaging	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,715,974	D868Y	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	probably damaging	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
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
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'- CAGCCAATCTGGAAGACTCAG -3'
(R):5'- CAGCCTCCTTCCTTGTGAATAAG -3'

Sequencing Primer
(F):5'- ATCTGGAAGACTCAGTTCTCCGAG -3'
(R):5'- CTCCTTCCTTGTGAATAAGAATTCG -3'

Posted On

2014-08-25