Mutagenetix > Incidental Mutations

Incidental Mutation 'R0588:Crtc1'

55839

Institutional Source

Beutler Lab

Gene Symbol

Crtc1

Ensembl Gene

ENSMUSG00000003575

Gene Name

CREB regulated transcription coactivator 1

Synonyms

Mect1, TORC1

MMRRC Submission

038778-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R0588 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70382355-70439579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70439549 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 4 (S4P)

Ref Sequence

ENSEMBL: ENSMUSP00000075916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076615]

Predicted Effect

probably damaging
Transcript: ENSMUST00000076615
AA Change: S4P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: S4P

Domain	Start	End	E-Value	Type
Pfam:TORC_N	6	66	1.1e-26	PFAM
Pfam:TORC_M	148	289	4.8e-64	PFAM
low complexity region	359	394	N/A	INTRINSIC
Pfam:TORC_C	555	630	9.2e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142769

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (25/25)

MGI Phenotype

PHENOTYPE: Mice homozygous for an inactivating mutation in this gene are hyperphagic, obese and infertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,603,061	K1299*	probably null	Het
Adamts2	G	T	11: 50,776,664	W476C	probably damaging	Het
Ankrd13c	T	C	3: 158,005,817	F525L	probably damaging	Het
Arg1	T	C	10: 24,920,624	S102G	probably damaging	Het
Atp2a3	A	T	11: 72,973,024	D192V	possibly damaging	Het
Cabin1	T	C	10: 75,745,337	E385G	possibly damaging	Het
Cacna1h	A	T	17: 25,387,564	D1020E	probably damaging	Het
Calcb	C	T	7: 114,720,126	H48Y	probably benign	Het
Dcaf6	A	G	1: 165,420,223	I147T	possibly damaging	Het
Ears2	T	C	7: 122,044,291		probably benign	Het
Fas	T	C	19: 34,327,140	V267A	probably damaging	Het
Fus	T	C	7: 127,985,574	L84P	probably damaging	Het
Fyb	T	C	15: 6,580,459	V171A	probably benign	Het
Gdap2	T	A	3: 100,170,001	M1K	probably null	Het
Gprc5b	T	A	7: 118,983,995	Q217L	probably benign	Het
Lrrc69	A	G	4: 14,704,001	I273T	possibly damaging	Het
Map4k4	C	A	1: 40,004,864	Q556K	possibly damaging	Het
Npy6r	T	A	18: 44,275,821	V103E	possibly damaging	Het
Olfr1449	A	G	19: 12,934,747	Y3C	probably benign	Het
Shisa9	A	G	16: 12,267,774	T416A	probably damaging	Het
Slc26a9	C	A	1: 131,754,011		probably benign	Het
Sostdc1	G	T	12: 36,317,021		probably benign	Het
St18	T	A	1: 6,817,738	F510L	probably damaging	Het
Zdhhc7	A	G	8: 120,083,367		probably benign	Het

Other mutations in Crtc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Crtc1	APN	8	70439522	missense	probably benign	0.01
IGL01361:Crtc1	APN	8	70387603	missense	probably damaging	1.00
IGL02883:Crtc1	APN	8	70406125	missense	probably benign	0.28
R0049:Crtc1	UTSW	8	70391859	critical splice donor site	probably null
R0196:Crtc1	UTSW	8	70386221	missense	probably damaging	1.00
R0514:Crtc1	UTSW	8	70402429	critical splice donor site	probably null
R0744:Crtc1	UTSW	8	70393013	missense	probably benign	0.00
R0833:Crtc1	UTSW	8	70393013	missense	probably benign	0.00
R0836:Crtc1	UTSW	8	70393013	missense	probably benign	0.00
R0905:Crtc1	UTSW	8	70391255	missense	probably damaging	1.00
R1016:Crtc1	UTSW	8	70392119	nonsense	probably null
R1300:Crtc1	UTSW	8	70387539	critical splice donor site	probably null
R1533:Crtc1	UTSW	8	70398299	missense	probably damaging	1.00
R1843:Crtc1	UTSW	8	70388152	missense	probably benign	0.00
R2393:Crtc1	UTSW	8	70388158	missense	probably benign
R4867:Crtc1	UTSW	8	70402514	missense	probably damaging	1.00
R5339:Crtc1	UTSW	8	70397733	splice site	probably benign
R6062:Crtc1	UTSW	8	70406189	missense	probably damaging	1.00
R6342:Crtc1	UTSW	8	70439557	start codon destroyed	probably null	0.95
R6912:Crtc1	UTSW	8	70398311	missense	probably damaging	1.00
R7910:Crtc1	UTSW	8	70387601	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGGGACCACCTGTCAAGTCCAAAG -3'
(R):5'- TGGAGTCCAGTGAATGCAGGCATC -3'

Sequencing Primer
(F):5'- GTCAAGTCCAAAGAGCAATCTCG -3'
(R):5'- CAGTGAATGCAGGCATCAGTTC -3'

Posted On

2013-07-11