Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Crtc1'

23438

Institutional Source

Beutler Lab

Gene Symbol

Crtc1

Ensembl Gene

ENSMUSG00000003575

Gene Name

CREB regulated transcription coactivator 1

Synonyms

Mect1, TORC1

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

R0196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70835005-70892229 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70838871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 599 (D599G)

Ref Sequence

ENSEMBL: ENSMUSP00000075916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003659] [ENSMUST00000076615]

AlphaFold

Q68ED7

Predicted Effect

probably benign
Transcript: ENSMUST00000003659

SMART Domains

Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:COMP	28	72	6.2e-22	PFAM
EGF	88	124	8.19e-2	SMART
EGF_CA	125	177	5.08e-7	SMART
EGF_CA	178	220	1.73e-9	SMART
EGF	226	265	7.53e-1	SMART
Pfam:TSP_3	299	334	6.1e-16	PFAM
Pfam:TSP_3	358	393	1.2e-15	PFAM
Pfam:TSP_3	393	416	2.7e-6	PFAM
Pfam:TSP_3	417	454	1.6e-14	PFAM
Pfam:TSP_3	455	490	3.7e-14	PFAM
Pfam:TSP_3	491	526	6.1e-15	PFAM
Pfam:TSP_C	544	741	2.6e-101	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076615
AA Change: D599G

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

SMART Domains

Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575
AA Change: D599G

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: ENSMUST00000142769

Predicted Effect

probably benign
Transcript: ENSMUST00000212488

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	probably damaging	Het

Other mutations in Crtc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Crtc1	APN	8	70,892,172 (GRCm39)	missense	probably benign	0.01
IGL01361:Crtc1	APN	8	70,840,253 (GRCm39)	missense	probably damaging	1.00
IGL02883:Crtc1	APN	8	70,858,775 (GRCm39)	missense	probably benign	0.28
R0049:Crtc1	UTSW	8	70,844,509 (GRCm39)	critical splice donor site	probably null
R0514:Crtc1	UTSW	8	70,855,079 (GRCm39)	critical splice donor site	probably null
R0588:Crtc1	UTSW	8	70,892,199 (GRCm39)	missense	probably damaging	0.99
R0744:Crtc1	UTSW	8	70,845,663 (GRCm39)	missense	probably benign	0.00
R0833:Crtc1	UTSW	8	70,845,663 (GRCm39)	missense	probably benign	0.00
R0836:Crtc1	UTSW	8	70,845,663 (GRCm39)	missense	probably benign	0.00
R0905:Crtc1	UTSW	8	70,843,905 (GRCm39)	missense	probably damaging	1.00
R1016:Crtc1	UTSW	8	70,844,769 (GRCm39)	nonsense	probably null
R1300:Crtc1	UTSW	8	70,840,189 (GRCm39)	critical splice donor site	probably null
R1533:Crtc1	UTSW	8	70,850,949 (GRCm39)	missense	probably damaging	1.00
R1843:Crtc1	UTSW	8	70,840,802 (GRCm39)	missense	probably benign	0.00
R2393:Crtc1	UTSW	8	70,840,808 (GRCm39)	missense	probably benign
R4867:Crtc1	UTSW	8	70,855,164 (GRCm39)	missense	probably damaging	1.00
R5339:Crtc1	UTSW	8	70,850,383 (GRCm39)	splice site	probably benign
R6062:Crtc1	UTSW	8	70,858,839 (GRCm39)	missense	probably damaging	1.00
R6342:Crtc1	UTSW	8	70,892,207 (GRCm39)	start codon destroyed	probably null	0.95
R6912:Crtc1	UTSW	8	70,850,961 (GRCm39)	missense	probably damaging	1.00
R7910:Crtc1	UTSW	8	70,840,251 (GRCm39)	missense	probably benign	0.08
R8852:Crtc1	UTSW	8	70,840,805 (GRCm39)	missense	probably damaging	1.00
R8860:Crtc1	UTSW	8	70,840,805 (GRCm39)	missense	probably damaging	1.00
R8985:Crtc1	UTSW	8	70,855,092 (GRCm39)	missense	probably damaging	0.96
R9539:Crtc1	UTSW	8	70,892,115 (GRCm39)	missense	probably benign
R9738:Crtc1	UTSW	8	70,840,205 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATAGCCAGCCTAGTACACAGCG -3'
(R):5'- GTTGAGCCATGTCATTTGTCCCCAC -3'

Sequencing Primer
(F):5'- GCAGCATTGCAAGCTCAG -3'
(R):5'- ATTTGTCCCCACCCAACAGTG -3'

Posted On

2013-04-16