Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02883:Crtc1'

362867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Crtc1

Ensembl Gene

ENSMUSG00000003575

Gene Name

CREB regulated transcription coactivator 1

Synonyms

Mect1, TORC1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.446) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

70382355-70439579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70406125 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 112 (G112S)

Ref Sequence

ENSEMBL: ENSMUSP00000075916 (fasta)

Gene Model

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

AlphaFold

Q68ED7

Predicted Effect

probably benign
Transcript: ENSMUST00000076615
AA Change: G112S

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: G112S

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: ENSMUST00000125273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153632

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	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
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
R0588:Crtc1	UTSW	8	70439549	missense	probably damaging	0.99
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
R8852:Crtc1	UTSW	8	70388155	missense	probably damaging	1.00
R8860:Crtc1	UTSW	8	70388155	missense	probably damaging	1.00
R8985:Crtc1	UTSW	8	70402442	missense	probably damaging	0.96
R9539:Crtc1	UTSW	8	70439465	missense	probably benign
R9738:Crtc1	UTSW	8	70387555	missense	probably damaging	1.00

Posted On

2015-12-18